### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PRMT7) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "PRMT7" "protein arginine methyltransferase 7" "16" "q22.1" "unknown" "NC_000016.9" "UD_132378528755" "" "https://www.LOVD.nl/PRMT7" "" "1" "25557" "54496" "610087" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PRMT7_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-01-03 17:05:29" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00016869" "PRMT7" "transcript variant 1" "001" "NM_019023.2" "" "NP_061896.1" "" "" "" "-344" "2121" "2079" "68344877" "68391169" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06298" "SBIDDS" "Short stature, brachydactyly, intellectual developmental disability, and seizures" "AR" "617157" "" "bi-frontal narrowing, prominent supraorbital ridges, sparse eyebrows, short nose with full/broad nasal tip, thin upper lip, full and everted lower lip and a prominent or squared-off jaw; global developmental delay (HP:0001263); intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); short stature (HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297)" "" "00006" "2021-12-10 23:20:41" "00006" "2023-01-03 20:01:36" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PRMT7" "06298" ## Individuals ## Do not remove or alter this header ## ## Count = 55 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00295739" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00306249" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00307964" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "familial" "F" "" "" "" "0" "" "" "" "16DG0201" "00391873" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "104P" "00428418" "" "" "" "2" "" "00006" "{PMID:Cali 2022:36399134}" "family, 2 affected, unaffected heterozygous carrier parents" "M" "yes" "Iran" "" "0" "" "" "Persia" "Fam1Pat1" "00428419" "" "" "00428418" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "F" "yes" "Iran" "" "0" "" "" "Persia" "Fam1Pat2" "00428420" "" "" "" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "F" "no" "Bangladesh" "" "0" "" "" "" "Fam2Pat3" "00428421" "" "" "" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "F" "yes" "Sudan" "" "0" "" "" "Arab" "Fam3Pat4" "00428422" "" "" "" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "M" "no" "" "" "0" "" "" "Hispanic" "Fam4Pat5" "00428423" "" "" "" "2" "" "00006" "{PMID:Cali 2022:36399134}" "family, 2 affected" "F" "" "Switzerland" "" "0" "" "" "" "Fam5Pat6" "00428424" "" "" "00428423" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "M" "" "Switzerland" "" "0" "" "" "" "Fam5Pat7" "00428425" "" "" "" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "F" "yes" "" "" "0" "" "" "Latina" "Fam6Pat8" "00428426" "" "" "" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "M" "yes" "France;Italy" "" "0" "" "" "" "Fam7Pat9" "00428427" "" "" "" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "F" "no" "" "" "0" "" "" "white" "Fam8Pat10" "00428428" "" "" "" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "M" "no" "" "" "0" "" "" "Europe-N;Mayan;Spain;Africa" "Fam9Pat11" "00428429" "" "" "" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "M" "no" "" "" "0" "" "" "Hispanic" "Fam10Pat12" "00428430" "" "" "" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "M" "no" "" "" "0" "" "" "white" "Fam11Pat13" "00428431" "" "" "" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "M" "yes" "Iraq" "" "0" "" "" "" "Fam12Pat14" "00428432" "" "" "" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "F" "yes" "" "" "0" "" "" "" "Fam13Pat15" "00428433" "" "" "" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "F" "no" "" "" "0" "" "" "" "Fam14Pat16" "00428434" "" "" "" "2" "" "00006" "{PMID:Cali 2022:36399134}" "family, 2 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "Arab" "Fam15Pat17" "00428435" "" "" "00428434" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "F" "yes" "" "" "0" "" "" "Arab" "Fam15Pat18" "00428436" "" "" "" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "F" "no" "" "" "0" "" "" "" "Fam16Pat19" "00428437" "" "" "" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "F" "yes" "" "" "0" "" "" "Kurdish" "Fam17Pat20" "00428438" "" "" "" "2" "" "00006" "{PMID:Cali 2022:36399134}" "family, 2 affected, unaffected heterozygous carrier parents" "M" "yes" "Afghanistan" "" "0" "" "" "" "Fam18Pat21" "00428439" "" "" "00428438" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "F" "yes" "Afghanistan" "" "0" "" "" "" "Fam18Pat22" "00428440" "" "" "" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "F" "no" "Canada;Russia" "" "0" "" "" "white" "Fam19Pat23" "00428441" "" "" "" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "M" "no" "" "" "0" "" "" "white" "Fam20Pat24" "00428442" "" "" "" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "F" "yes" "Iran" "" "0" "" "" "" "Fam21Pat25" "00428443" "" "" "" "2" "" "00006" "{PMID:Cali 2022:36399134}" "family, 2 affected, unaffected heterozygous carrier parents" "M" "yes" "Iran" "" "0" "" "" "" "Fam22Pat26" "00428444" "" "" "00428443" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "F" "yes" "Iran" "" "0" "" "" "" "Fam22Pat27" "00428445" "" "" "" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "M" "no" "Iran" "" "0" "" "" "" "Fam23Pat28" "00428446" "" "" "" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "M" "no" "Iraq" "" "0" "" "" "Jew-Ashkenazi" "Fam24Pat29" "00428447" "" "" "" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "M" "no" "Austria" "" "0" "" "" "Europe" "Fam25Pat30" "00428448" "" "" "" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "M" "no" "" "" "0" "" "" "white" "Fam26Pat31" "00428449" "" "" "" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "F" "no" "" "" "0" "" "" "Arab" "Fam27Pat32" "00428450" "" "" "" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "M" "no" "" "" "0" "" "" "Arab" "Fam27Pat33" "00428451" "" "" "" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "F" "no" "" "" "0" "" "" "Arab" "Fam27Pat34" "00428452" "" "" "" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "F" "yes" "" "" "0" "" "" "Arab" "Fam28Pat35" "00428453" "" "" "" "1" "" "00006" "{PMID:Cali 2022:36399134}" "" "F" "no" "Netherlands" "" "0" "" "" "" "Fam29Pat36" "00428454" "" "" "" "1" "" "00006" "{PMID:Agolini 2018:28902392}, {PMID:Cali 2022:36399134}" "" "M" "yes" "" "" "0" "" "" "white" "Fam1PatII2;Fam30Pat37" "00428455" "" "" "" "2" "" "00006" "{PMID:Agolini 2018:28902392}, {PMID:Cali 2022:36399134}" "family, 2 affected, unaffected heterozygous carrier parents" "M" "yes" "Tunisia" "" "0" "" "" "" "Fam2PatII1;Fam31Pat38" "00428456" "" "" "00428455" "1" "" "00006" "{PMID:Agolini 2018:28902392}, {PMID:Cali 2022:36399134}" "" "F" "yes" "Tunisia" "" "0" "" "" "" "Fam2PatII2;Fam31Pat39" "00428457" "" "" "" "2" "" "00006" "{PMID:Akawi 2015:26437029}, {PMID:Cali 2022:36399134}" "family, 2 affected" "F" "" "" "" "0" "" "" "mixed" "?;Fam32Pat40" "00428458" "" "" "00428457" "1" "" "00006" "{PMID:Akawi 2015:26437029}, {PMID:Cali 2022:36399134}" "" "F" "" "" "" "0" "" "" "mixed" "?;Fam32Pat41" "00428459" "" "" "" "3" "" "00006" "{PMID:Akawi 2015:26437029}, {PMID:Cali 2022:36399134}" "family, 3 affected" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "?;Fam33Pat42" "00428460" "" "" "00428459" "1" "" "00006" "{PMID:Akawi 2015:26437029}, {PMID:Cali 2022:36399134}" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "?;Fam33Pat43" "00428461" "" "" "00428459" "1" "" "00006" "{PMID:Akawi 2015:26437029}, {PMID:Cali 2022:36399134}" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "?;Fam33Pat44" "00428462" "" "" "" "1" "" "00006" "{PMID:Valenzuela 2019:30006058}, {PMID:Cali 2022:36399134}" "" "F" "no" "" "" "0" "" "" "white" "patient;Fam34Pat45" "00428463" "" "" "" "1" "" "00006" "{PMID:Akawi 2015:26437029}, {PMID:Cali 2022:36399134}" "" "F" "" "" "" "0" "" "" "" "?;Fam35Pat46" "00428464" "" "" "" "2" "" "00006" "{PMID:Poquerusse 2022:34244600}, {PMID:Cali 2022:36399134}" "family, 2 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "Middle East" "FamPat1;Fam36Pat47" "00428465" "" "" "00428464" "1" "" "00006" "{PMID:Poquerusse 2022:34244600}, {PMID:Cali 2022:36399134}" "brother" "M" "yes" "" "" "0" "" "" "Middle East" "FamPat2;Fam36Pat48" "00428466" "" "" "" "1" "" "00006" "{PMID:Kernohan 2016:27718516}" "" "M" "yes" "Afghanistan" "" "0" "" "" "" "patient(Pat49)" "00428467" "" "" "" "2" "" "00006" "{PMID:Birnbaum 2019:30513135}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "Jew-Bucharian" "FamPatI2(Pat50)" "00428468" "" "" "00428467" "1" "" "00006" "{PMID:Birnbaum 2019:30513135}" "brother" "M" "no" "" "" "0" "" "" "Jew-Bucharian" "FamPatI3(Pat51)" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 55 "{{individualid}}" "{{diseaseid}}" "00295739" "00198" "00306249" "00198" "00307964" "00139" "00391873" "00139" "00428418" "05611" "00428419" "05611" "00428420" "05611" "00428421" "05611" "00428422" "05611" "00428423" "05611" "00428424" "05611" "00428425" "05611" "00428426" "05611" "00428427" "05611" "00428428" "05611" "00428429" "05611" "00428430" "05611" "00428431" "05611" "00428432" "05611" "00428433" "05611" "00428434" "05611" "00428435" "05611" "00428436" "05611" "00428437" "05611" "00428438" "05611" "00428439" "05611" "00428440" "05611" "00428441" "05611" "00428442" "05611" "00428443" "05611" "00428444" "05611" "00428445" "05611" "00428446" "05611" "00428447" "05611" "00428448" "05611" "00428449" "05611" "00428450" "05611" "00428451" "05611" "00428452" "05611" "00428453" "05611" "00428454" "05611" "00428455" "05611" "00428456" "05611" "00428457" "05611" "00428458" "05611" "00428459" "05611" "00428460" "05611" "00428461" "05611" "00428462" "05611" "00428463" "05611" "00428464" "05611" "00428465" "05611" "00428466" "05611" "00428467" "05611" "00428468" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05611, 06298 ## Count = 54 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000223257" "00198" "00295739" "01164" "Unknown" "" "Visual impairment (HP:0000505); Short stature (HP:0004322); Global developmental delay (HP:0001263); Abnormality of the face (HP:0000271)" "" "" "" "" "" "" "" "" "" "" "" "0000232095" "00198" "00306249" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Muscular hypotonia (HP:0001252); Nystagmus (HP:0000639); Short stature (HP:0004322)" "" "" "" "" "" "" "" "" "" "" "" "0000233387" "00139" "00307964" "00006" "Familial, autosomal recessive" "4y2m" "see paper; ..., Intellectual disability, Hypotonia, Microcephaly; Brachydactyly" "" "" "" "" "" "" "" "" "" "intellectual diability" "" "0000319323" "05611" "00428418" "00006" "Familial, autosomal recessive" "" "no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); normal length at birth; no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); short stature (HP:0004322); no overweight (-HP:0025502); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); abnormal skull morphology (HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); seizure (HP:0001250); no hypotonia (-HP:0001252); abnormal brain morphology (HP:0012443), slightly enlarged lateral ventricles; no abnormality eye (-HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); no abnormality genitourinary system (-HP:0000119); no abnormality respiratory system (-HP:0002086); dolichocephaly (HP:0000268); face, coarse (HP:0000280); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, broad (HP:0011822); chin, tall (HP:0400000); eyes, widely spaced (HP:0000316); eyebrow, highly arched (HP:0002553); ala nasi, flared (HP:0000454); columella, low hanging (HP:0009765); nose, prominent (HP:0000448); philtrum, short (HP:0000322); vermilion, upper lip, thin (HP:0000219); mouth, wide (HP:0000154); finger, radial deviation of (HP:0009466); finger, short (HP:0009381); metatarsal, short (HP:0010743); thumb, broad (HP:0011304); toes, overlapping (HP:0001845);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319324" "05611" "00428419" "00006" "Familial, autosomal recessive" "" "no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); normal length at birth; no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); short stature (HP:0004322); no overweight (-HP:0025502); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); abnormal skull morphology (HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); seizure (HP:0001250); no hypotonia (-HP:0001252); abnormal brain morphology (HP:0012443), slightly enlarged lateral ventricles; no abnormality eye (-HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); no abnormality genitourinary system (-HP:0000119); no abnormality respiratory system (-HP:0002086); dolichocephaly (HP:0000268); face, coarse (HP:0000280); supraorbital ridges, prominent (HP:0000336); prognathism (HP:0000303); chin, broad (HP:0011822); chin, tall (HP:0400000); eyebrow, highly arched (HP:0002553); eyebrow, thick (HP:0000574); proptosis (HP:0000520); synophrys (HP:0000664); ala nasi, flared (HP:0000454); columella, low hanging (HP:0009765); nose, prominent (HP:0000448); philtrum, short (HP:0000322); vemilion, upper lip, tented (HP:0010804); vermilion, upper lip, thick (HP:0000215); mouth, wide (HP:0000154); finger, short (HP:0009381); finger, tapered (HP:0001182); metatarsal, short (HP:0010743); toes, overlapping (HP:0001845);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319325" "05611" "00428420" "00006" "Familial, autosomal recessive" "" "no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); feeding difficulties (HP:0008872); failure to thrive (HP:0001508); no short stature (-HP:0004322); obesity (HP:0001513); microcephaly (HP:0000252); abnormal skull morphology (HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality hand (HP:0001155); global developmental delay (HP:0001263); moderate intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), possible ischemic damage of head of caudate nucleus; no abnormality eye (-HP:0000478); brachycephaly (HP:0000248); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, broad (HP:0011822); chin, tall (HP:0400000); eyebrow, interrupted; palpebral fissure, upslanted (HP:0000582); palpebral fissure, short (HP:0012745); nose, short (HP:0003196); vermilion, lower lip, everted (HP:0000232); vermilion, lower lip, thick (HP:0000179); vemilion, upper lip, tented (HP:0010804); vermilion, upper lip, thick (HP:0000215); central incisor, prominent (HP:0000675); finger, short (HP:0009381); finger, tapered (HP:0001182); thumb, broad (HP:0011304);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319326" "05611" "00428421" "00006" "Familial, autosomal recessive" "" "no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); feeding difficulties (HP:0008872); no failure to thrive (-HP:0001508); no short stature (-HP:0004322); no overweight (-HP:0025502); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), mild dilation of left temporal cistern; no hearing impairment (-HP:0000365); abnormality respiratory system (HP:0002086); hairline, high anterior (HP:0009890); forehead, high (HP:0000348); supraorbital ridges, prominent (HP:0000336); prognathism (HP:0000303); chin, broad (HP:0011822); chin, tall (HP:0400000); epicanthus (HP:0000286); palpebral fissure, upslanted (HP:0000582); columella, short (HP:0002000); anteverted nares (HP:0000463); nasal bridge, depressed (HP:0005280); nose, short (HP:0003196); vermilion, lower lip, thick (HP:0000179); central incisor, prominent (HP:0000675);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319327" "05611" "00428422" "00006" "Familial, autosomal recessive" "" "no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); feeding difficulties (HP:0008872); short stature (HP:0004322); no overweight (-HP:0025502); microcephaly (HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); seizure (HP:0001250); abnormal brain morphology (HP:0012443), cavum septum pellucidum, FLAIR hyperintensity within convexity sulci (maybe due to anesthesia); no abnormality eye (-HP:0000478); abnormality endocrine system (HP:0000818); microcephaly (HP:0000252); hairline, high anterior (HP:0009890); forehead, high (HP:0000348); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, broad (HP:0011822); chin, tall (HP:0400000); eyes, widely spaced (HP:0000316); deeply set eyes (HP:0000490); palpebral fissure, short (HP:0012745); nasal bridge, wide (HP:0000431); nasal tip, broad (HP:0000455); philtrum, short (HP:0000322); vermilion, lower lip, everted (HP:0000232); vermilion, lower lip, thick (HP:0000179); vemilion, upper lip, tented (HP:0010804); vermilion, upper lip, thick (HP:0000215); camptodactyly of finger (HP:0100490); finger, short (HP:0009381); hallux, valgus (HP:0001822); metatarsal, short (HP:0010743); thumb, broad (HP:0011304); toes, overlapping (HP:0001845);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319328" "05611" "00428423" "00006" "Familial, autosomal recessive" "" "no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); short length at birth; no feeding difficulties (-HP:0008872); failure to thrive (HP:0001508); short stature (HP:0004322); obesity (HP:0001513); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); abnormal skull morphology (HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); moderate intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), enlarged ventricles, asymmetry of occipital lobes; abnormality eye (HP:0000478); hearing impairment (HP:0000365); no abnormality endocrine system (-HP:0000818); abnormality genitourinary system (HP:0000119); no abnormality respiratory system (-HP:0002086); brachycephaly (HP:0000248); frontal bossing (HP:0002007); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, tall (HP:0400000); eyes, widely spaced (HP:0000316); deeply set eyes (HP:0000490); eyebrow, low-set; eyebrow, horizontal (HP:0011228); eyebrow, sparse (HP:0045075); palpebral fissure, upslanted (HP:0000582); palpebral fissure, short (HP:0012745); naris, narrow (HP:0009933); naris, notched (HP:0003191); anteverted nares (HP:0000463); nasal bridge, depressed (HP:0005280); nasal tip, broad (HP:0000455); nose, prominent (HP:0000448); nose, short (HP:0003196); philtrum, short (HP:0000322); philtrum, deep (HP:0002002); vermilion, lower lip, everted (HP:0000232); vermilion, lower lip, thick (HP:0000179); vemilion, upper lip, tented (HP:0010804); mouth, narrow (HP:0000160); high palate (HP:0000218); clinodactyly (HP:0030084); finger, short (HP:0009381); metatarsal, short (HP:0010743); thumb, broad (HP:0011304); thumb, short (HP:0009778); toe, short (HP:0001831); nail, narrow (HP:0011313);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319329" "05611" "00428424" "00006" "Familial, autosomal recessive" "" "not small for gestational age (-HP:0001518); normal length at birth; no feeding difficulties (-HP:0008872); failure to thrive (HP:0001508); short stature (HP:0004322); no overweight (-HP:0025502); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); moderate intellectual disability (HP:0001249); no seizure (-HP:0001250); hypotonia (HP:0001252); abnormality eye (HP:0000478); hearing impairment (HP:0000365); no abnormality endocrine system (-HP:0000818); no abnormality respiratory system (-HP:0002086); supraorbital ridges, prominent (HP:0000336); micrognathia (HP:0000347); chin, broad (HP:0011822); eyes, widely spaced (HP:0000316); deeply set eyes (HP:0000490); eyebrow, sparse (HP:0045075); palpebral fissure, upslanted (HP:0000582); palpebral fissure, short (HP:0012745); columella, low hanging (HP:0009765); anteverted nares (HP:0000463); nasal bridge, wide (HP:0000431); nose, prominent (HP:0000448); nose, short (HP:0003196); philtrum, short (HP:0000322); vermilion, upper lip, thin (HP:0000219); high palate (HP:0000218); clinodactyly (HP:0030084); finger, short (HP:0009381); metatarsal, short (HP:0010743); toe, short (HP:0001831);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319330" "05611" "00428425" "00006" "Familial, autosomal recessive" "" "small for gestational age (HP:0001518); short length at birth; no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); short stature (HP:0004322); obesity (HP:0001513); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); no seizure (-HP:0001250); hypotonia (HP:0001252); normal brain morphology (HP:0012443); abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); abnormality genitourinary system (HP:0000119); no abnormality respiratory system (-HP:0002086); frontal bossing (HP:0002007); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, tall (HP:0400000); epicanthus (HP:0000286); eyebrow, low-set; eyebrow, horizontal (HP:0011228); eyebrow, sparse (HP:0045075); palpebral fissure, upslanted (HP:0000582); palpebral fissure, short (HP:0012745); nasal tip, broad (HP:0000455); nose, short (HP:0003196); philtrum, short (HP:0000322); vermilion, upper lip, thin (HP:0000219); mouth, downturned corners of (HP:0002714); finger, short (HP:0009381); thumb, broad (HP:0011304); nail, short (HP:0001799)" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319331" "05611" "00428426" "00006" "Familial, autosomal recessive" "" "not small for gestational age (-HP:0001518); normal length at birth; short stature (HP:0004322); obesity (HP:0001513); microcephaly birth (HP:0011451); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); no abnormal oral morphology (-HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); global developmental delay (HP:0001263); no seizure (-HP:0001250); hypotonia (HP:0001252); normal brain morphology (HP:0012443); no abnormality eye (-HP:0000478); no hearing impairment (-HP:0000365); abnormality respiratory system (HP:0002086); microcephaly (HP:0000252); face, coarse (HP:0000280); forehead, narrow (HP:0000341); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, broad (HP:0011822); chin, tall (HP:0400000); eyes, widely spaced (HP:0000316); eyebrow, low-set; eyebrow, horizontal (HP:0011228); eyebrow, sparse (HP:0045075); columella, short (HP:0002000); nasal bridge, depressed (HP:0005280); nasal tip, broad (HP:0000455); nose, short (HP:0003196); philtrum, long (HP:0000343); finger, short (HP:0009381);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319332" "05611" "00428427" "00006" "Familial, autosomal recessive" "" "no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); short length at birth; feeding difficulties (HP:0008872); failure to thrive (HP:0001508); short stature (HP:0004322); no overweight (-HP:0025502); microcephaly birth (HP:0011451); microcephaly (HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); moderate intellectual disability (HP:0001249); no seizure (-HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), mild prominence of lateral and third ventricles, mild decrease in cerebral volume; abnormality eye (HP:0000478); hearing impairment (HP:0000365); no abnormality endocrine system (-HP:0000818); no abnormality genitourinary system (-HP:0000119); no abnormality respiratory system (-HP:0002086); microcephaly (HP:0000252); hairline, high anterior (HP:0009890); scalp hair, sparse (HP:0002209); frontal bossing (HP:0002007); forehead, high (HP:0000348); forehead, narrow (HP:0000341); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, tall (HP:0400000); epicanthus (HP:0000286); columella, short (HP:0002000); anteverted nares (HP:0000463); nasal bridge, depressed (HP:0005280); nose, short (HP:0003196); philtrum, long (HP:0000343); philtrum, smooth (HP:0000319); vermilion, upper lip, thin (HP:0000219); finger, short (HP:0009381); thumb, broad (HP:0011304); toes, overlapping (HP:0001845);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319333" "05611" "00428428" "00006" "Familial, autosomal recessive" "" "not small for gestational age (-HP:0001518); no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); short stature (HP:0004322); obesity (HP:0001513); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); no abnormality neck (-HP:0000464); abnormality hand (HP:0001155); no abnormal foot morphology (-HP:0001760); global developmental delay (HP:0001263); mild intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), mild frontal lobe atrophy? uncorroborated data; abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); abnormality genitourinary system (HP:0000119); no abnormality respiratory system (-HP:0002086); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); prognathism (HP:0000303); retrognathia (HP:0000278); chin, tall (HP:0400000); epicanthus (HP:0000286); palpebral fissure, upslanted (HP:0000582); synophrys (HP:0000664); anteverted nares (HP:0000463); nasal tip, broad (HP:0000455); philtrum, long (HP:0000343); vermilion, upper lip, thin (HP:0000219); finger, short (HP:0009381); metacarpal, short (HP:0010049);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319334" "05611" "00428429" "00006" "Familial, autosomal recessive" "" "no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); short length at birth; feeding difficulties (HP:0008872); failure to thrive (HP:0001508); short stature (HP:0004322); obesity (HP:0001513); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), 5 mm cystic appearing structure between the anterior and posterior lobes of the pituitary, pars intermedia cyst, otherwise unremarkable; hearing impairment (HP:0000365); no abnormality genitourinary system (-HP:0000119); no abnormality respiratory system (-HP:0002086); face, coarse (HP:0000280); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); prognathism (HP:0000303); chin, tall (HP:0400000); eyes, widely spaced (HP:0000316); eyebrow, highly arched (HP:0002553); eyebrow, sparse (HP:0045075); palpebral fissure, upslanted (HP:0000582); columella, short (HP:0002000); nasal bridge, wide (HP:0000431); nasal tip, broad (HP:0000455); philtrum, long (HP:0000343); no vermilion, lower lip, everted (-HP:0000232); no vermilion, lower lip, thick (-HP:0000179); no vemilion, upper lip, tented (-HP:0010804); no vermilion, upper lip, thick (-HP:0000215); no vermilion, upper lip, thin (-HP:0000219); mouth, downturned corners of (HP:0002714); finger, short (HP:0009381); metatarsal, short (HP:0010743); thumb, broad (HP:0011304);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319335" "05611" "00428430" "00006" "Familial, autosomal recessive" "" "no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); normal length at birth; no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); short stature (HP:0004322); obesity (HP:0001513); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), enlarged cisterna magna; abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); abnormality genitourinary system (HP:0000119); abnormality respiratory system (HP:0002086); forehead, high (HP:0000348); midface hypoplasia malar flattening (HP:0011800 HP:0000272); chin, broad (HP:0011822); eyes, widely spaced (HP:0000316); deeply set eyes (HP:0000490); palpebral fissure, short (HP:0012745); ptosis (HP:0000508); nasal bridge, wide (HP:0000431); nasal tip, broad (HP:0000455); high palate (HP:0000218); finger, short (HP:0009381); metatarsal, short (HP:0010743);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319336" "05611" "00428431" "00006" "Familial, autosomal recessive" "8y" "not small for gestational age (-HP:0001518); no feeding difficulties (-HP:0008872); failure to thrive (HP:0001508); short stature (HP:0004322); no overweight (-HP:0025502); no microcephaly (-HP:0000252); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal oral morphology (HP:0031816); no abnormal foot morphology (-HP:0001760); global developmental delay (HP:0001263); no seizure (-HP:0001250); hypotonia (HP:0001252); normal brain morphology (HP:0012443); no abnormality eye (-HP:0000478); no hearing impairment (-HP:0000365); no abnormality genitourinary system (-HP:0000119); no abnormality respiratory system (-HP:0002086); prognathism (HP:0000303); chin, tall (HP:0400000); deeply set eyes (HP:0000490); no ala nasi, flared (-HP:0000454); no columella, low hanging (-HP:0009765); no columella, short (-HP:0002000); no naris, narrow (-HP:0009933); no naris, notched (-HP:0003191); no anteverted nares (-HP:0000463); no nasal bridge, depressed (-HP:0005280); no nasal bridge, narrow (-HP:0000446); no nasal bridge, prominent (-HP:0000426); no nasal bridge, wide (-HP:0000431); no nasal tip, broad (-HP:0000455); no nose, prominent (-HP:0000448); no nose, short (-HP:0003196); philtrum, short (HP:0000322); no vermilion, lower lip, everted (-HP:0000232); no vermilion, lower lip, thick (-HP:0000179); no vemilion, upper lip, tented (-HP:0010804); no vermilion, upper lip, thick (-HP:0000215); vermilion, upper lip, thin (HP:0000219); mouth, wide (HP:0000154); no high palate (-HP:0000218); no central incisor, prominent (-HP:0000675); no camptodactyly of finger (-HP:0100490); no finger, radial deviation of (-HP:0009466); no finger, short (-HP:0009381); no finger, tapered (-HP:0001182); no hallux, valgus (-HP:0001822); no metacarpal, short (-HP:0010049); no metatarsal, short (-HP:0010743); no pes cavus (-HP:0001761); no thumb, broad (-HP:0011304); no thumb, short (-HP:0009778); no toes, overlapping (-HP:0001845); no toe, short (-HP:0001831);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319337" "05611" "00428432" "00006" "Familial, autosomal recessive" "7y" "no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); normal length at birth; feeding difficulties (HP:0008872); failure to thrive (HP:0001508); short stature (HP:0004322); overweight (HP:0025502); no microcephaly birth (-HP:0011451); microcephaly (HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); no seizure (-HP:0001250); hypotonia (HP:0001252); normal brain morphology (HP:0012443); abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); no abnormality genitourinary system (-HP:0000119); abnormality respiratory system (HP:0002086); microcephaly (HP:0000252); frontal bossing (HP:0002007); midface hypoplasia malar flattening (HP:0011800 HP:0000272); retrognathia (HP:0000278); chin, broad (HP:0011822); epicanthus (HP:0000286); deeply set eyes (HP:0000490); nasal bridge, wide (HP:0000431); nasal tip, broad (HP:0000455); philtrum, long (HP:0000343); vermilion, upper lip, thin (HP:0000219); high palate (HP:0000218); syndactyly/ webbing of the fingers (HP:0001159); finger, short (HP:0009381); metacarpal, short (HP:0010049); metatarsal, short (HP:0010743);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319338" "05611" "00428433" "00006" "Familial, autosomal recessive" "" "no intra-uterine growth retardation (-HP:0001511); failure to thrive (HP:0001508); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); hypotonia (HP:0001252); abnormality eye (HP:0000478); face, coarse (HP:0000280); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, tall (HP:0400000); eyebrow, sparse (HP:0045075); nasal bridge, prominent (HP:0000426); nose, short (HP:0003196); philtrum, short (HP:0000322); vemilion, upper lip, tented (HP:0010804); vermilion, upper lip, thin (HP:0000219); clinodactyly (HP:0030084); syndactyly/ webbing of the fingers (HP:0001159); hallux, valgus (HP:0001822); metatarsal, short (HP:0010743);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319339" "05611" "00428434" "00006" "Familial, autosomal recessive" "10y" "no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); feeding difficulties (HP:0008872); no failure to thrive (-HP:0001508); short stature (HP:0004322); obesity (HP:0001513); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); global developmental delay (HP:0001263); mild intellectual disability (HP:0001249); no seizure (-HP:0001250); hypotonia (HP:0001252); normal brain morphology (HP:0012443); abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); abnormality genitourinary system (HP:0000119); no abnormality respiratory system (-HP:0002086); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, broad (HP:0011822); chin, tall (HP:0400000); deeply set eyes (HP:0000490); eyebrow, low-set; eyebrow, horizontal (HP:0011228); eyebrow, sparse (HP:0045075); palpebral fissure, short (HP:0012745); anteverted nares (HP:0000463); nasal bridge, depressed (HP:0005280); nasal bridge, wide (HP:0000431); nasal tip, broad (HP:0000455); vermilion, lower lip, everted (HP:0000232); vermilion, lower lip, thick (HP:0000179); vermilion, upper lip, thin (HP:0000219); high palate (HP:0000218); finger, short (HP:0009381); finger, tapered (HP:0001182);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319340" "05611" "00428435" "00006" "Familial, autosomal recessive" "7y" "no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); feeding difficulties (HP:0008872); no failure to thrive (-HP:0001508); short stature (HP:0004322); obesity (HP:0001513); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); global developmental delay (HP:0001263); moderate intellectual disability (HP:0001249); no seizure (-HP:0001250); hypotonia (HP:0001252); normal brain morphology (HP:0012443); abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); no abnormality genitourinary system (-HP:0000119); no abnormality respiratory system (-HP:0002086); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, broad (HP:0011822); chin, tall (HP:0400000); deeply set eyes (HP:0000490); eyebrow, low-set; eyebrow, horizontal (HP:0011228); palpebral fissure, upslanted (HP:0000582); palpebral fissure, short (HP:0012745); anteverted nares (HP:0000463); nasal bridge, depressed (HP:0005280); nasal bridge, wide (HP:0000431); nasal tip, broad (HP:0000455); philtrum, long (HP:0000343); philtrum, smooth (HP:0000319); vermilion, upper lip, thin (HP:0000219); high palate (HP:0000218); finger, short (HP:0009381);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319341" "05611" "00428436" "00006" "Familial, autosomal recessive" "9y" "failure to thrive (HP:0001508); short stature (HP:0004322); microcephaly (HP:0000252); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality hand (HP:0001155); global developmental delay (HP:0001263); hypotonia (HP:0001252); normal brain morphology (HP:0012443); abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); prognathism (HP:0000303); chin, tall (HP:0400000); eyes, widely spaced (HP:0000316); anteverted nares (HP:0000463); nasal bridge, depressed (HP:0005280); philtrum, long (HP:0000343); mouth, downturned corners of (HP:0002714); high palate (HP:0000218); finger, short (HP:0009381);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319342" "05611" "00428437" "00006" "Familial, autosomal recessive" "" "no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); normal length at birth; short stature (HP:0004322); overweight (HP:0025502); no microcephaly birth (-HP:0011451); microcephaly (HP:0000252); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); hypotonia (HP:0001252); abnormality eye (HP:0000478); abnormality respiratory system (HP:0002086); eyes, widely spaced (HP:0000316); anteverted nares (HP:0000463); nose, short (HP:0003196); vermilion, upper lip, thin (HP:0000219);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319343" "05611" "00428438" "00006" "Familial, autosomal recessive" "" "not small for gestational age (-HP:0001518); normal length at birth; no short stature (-HP:0004322); no overweight (-HP:0025502); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), Arnold-Chiari malformation, hydrocephalus; no abnormality eye (-HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); abnormality genitourinary system (HP:0000119); no abnormality respiratory system (-HP:0002086); forehead, narrow (HP:0000341); prognathism (HP:0000303); chin, broad (HP:0011822); chin, tall (HP:0400000); epicanthus (HP:0000286); eyebrow, horizontal (HP:0011228); eyebrow, sparse (HP:0045075); palpebral fissure, downslanted (HP:0000494); synophrys (HP:0000664); columella, short (HP:0002000); nasal tip, broad (HP:0000455); philtrum, long (HP:0000343); vermilion, upper lip, thin (HP:0000219); finger, short (HP:0009381); metatarsal, short (HP:0010743); toe, short (HP:0001831); nail, short (HP:0001799)" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319344" "05611" "00428439" "00006" "Familial, autosomal recessive" "" "short stature (HP:0004322); no overweight (-HP:0025502); microcephaly (HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); normal brain morphology (HP:0012443); no abnormality eye (-HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); no abnormality genitourinary system (-HP:0000119); no abnormality respiratory system (-HP:0002086); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); chin, broad (HP:0011822); epicanthus (HP:0000286); eyebrow, sparse (HP:0045075); nasal bridge, depressed (HP:0005280); nasal bridge, wide (HP:0000431); nasal tip, broad (HP:0000455); philtrum, long (HP:0000343); vermilion, lower lip, everted (HP:0000232); vermilion, lower lip, thick (HP:0000179); vermilion, upper lip, thin (HP:0000219); finger, short (HP:0009381); toe, short (HP:0001831);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319345" "05611" "00428440" "00006" "Familial, autosomal recessive" "" "no intra-uterine growth retardation (-HP:0001511); short stature (HP:0004322); no overweight (-HP:0025502); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); moderate intellectual disability (HP:0001249); seizure (HP:0001250); abnormal brain morphology (HP:0012443), progressively extensive, confluent T2flair signal hyperintensity within the periventricular and subcortical white matter; no hearing impairment (-HP:0000365); hairline, high anterior (HP:0009890); forehead, high (HP:0000348); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, broad (HP:0011822); chin, tall (HP:0400000); deeply set eyes (HP:0000490); eyebrow, sparse (HP:0045075); anteverted nares (HP:0000463); nasal bridge, narrow (HP:0000446); philtrum, long (HP:0000343); philtrum, smooth (HP:0000319); vermilion, lower lip, everted (HP:0000232); vermilion, lower lip, thick (HP:0000179); vermilion, upper lip, thin (HP:0000219); high palate (HP:0000218); finger, short (HP:0009381); metatarsal, short (HP:0010743); pes cavus (HP:0001761); nail, short (HP:0001799)" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319346" "05611" "00428441" "00006" "Familial, autosomal recessive" "" "no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); normal length at birth; no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); no short stature (-HP:0004322); microcephaly birth (HP:0011451); microcephaly (HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), periventricular leukomalacy; abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); abnormality genitourinary system (HP:0000119); no abnormality respiratory system (-HP:0002086); hairline, high anterior (HP:0009890); frontal bossing (HP:0002007); forehead, high (HP:0000348); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); micrognathia (HP:0000347); retrognathia (HP:0000278); chin, broad (HP:0011822); eyebrow, low-set; eyebrow, horizontal (HP:0011228); palpebral fissure, long (HP:0000637); palpebral fissure, upslanted (HP:0000582); naris, narrow (HP:0009933); anteverted nares (HP:0000463); nasal bridge, depressed (HP:0005280); nasal tip, broad (HP:0000455); nose, short (HP:0003196); philtrum, long (HP:0000343); vermilion, upper lip, thin (HP:0000219); central incisor, prominent (HP:0000675); finger, short (HP:0009381); finger, tapered (HP:0001182); thumb, broad (HP:0011304); thumb, short (HP:0009778);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319347" "05611" "00428442" "00006" "Familial, autosomal recessive" "" "no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); normal length at birth; no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); no overweight (-HP:0025502); no microcephaly birth (-HP:0011451); microcephaly (HP:0000252); normal skull morphology (-HP:0000929); no abnormality orbital region (-HP:0000315); no abnormal nasal morphology (-HP:0005105); abnormal oral morphology (HP:0031816); no abnormality neck (-HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), thin corpus callosum; abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); abnormality genitourinary system (HP:0000119); no abnormality respiratory system (-HP:0002086); microcephaly (HP:0000252); scalp hair, sparse (HP:0002209); face, coarse (HP:0000280); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); prognathism (HP:0000303); chin, broad (HP:0011822); chin, tall (HP:0400000); eyebrow, sparse (HP:0045075); palpebral fissure, short (HP:0012745); nasal bridge, prominent (HP:0000426); nasal tip, broad (HP:0000455); philtrum, smooth (HP:0000319); mouth, wide (HP:0000154); central incisor, prominent (HP:0000675); clinodactyly (HP:0030084); syndactyly/ webbing of the fingers (HP:0001159); finger, short (HP:0009381); hallux, valgus (HP:0001822); metatarsal, short (HP:0010743); toe, short (HP:0001831); nail, short (HP:0001799)" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319348" "05611" "00428443" "00006" "Familial, autosomal recessive" "9y" "no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); short stature (HP:0004322); overweight (HP:0025502); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); global developmental delay (HP:0001263); seizure (HP:0001250); hypotonia (HP:0001252); hearing impairment (HP:0000365); abnormality genitourinary system (HP:0000119); hairline, high anterior (HP:0009890); face, coarse (HP:0000280); prognathism (HP:0000303); chin, broad (HP:0011822); chin, tall (HP:0400000); eyebrow, highly arched (HP:0002553); eyebrow, thick (HP:0000574); palpebral fissure, upslanted (HP:0000582); synophrys (HP:0000664); philtrum, short (HP:0000322); thumb, broad (HP:0011304);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319349" "05611" "00428444" "00006" "Familial, autosomal recessive" "6y" "no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); normal skull morphology (-HP:0000929); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); seizure (HP:0001250); hypotonia (HP:0001252); hearing impairment (HP:0000365); no abnormality genitourinary system (-HP:0000119); hairline, high anterior (HP:0009890);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319350" "05611" "00428445" "00006" "Familial, autosomal recessive" "15m" "no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); feeding difficulties (HP:0008872); no failure to thrive (-HP:0001508); short stature (HP:0004322); overweight (HP:0025502); microcephaly (HP:0000252); abnormal skull morphology (HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), narrowing of the fourth ventricle in the AP dimension findings may reflect a cerebellar-posterior fossa size mismatch, mild supratentorial hydrocephalus, slight proportional elongation of the supraocciput without stenosis of the faramen magnum; abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); no abnormality respiratory system (-HP:0002086); brachycephaly (HP:0000248); scalp hair, sparse (HP:0002209); face, coarse (HP:0000280); forehead, high (HP:0000348); forehead, narrow (HP:0000341); eyebrow, horizontal (HP:0011228); palpebral fissure, upslanted (HP:0000582); naris, narrow (HP:0009933); anteverted nares (HP:0000463); philtrum, long (HP:0000343); philtrum, smooth (HP:0000319); philtrum, deep (HP:0002002); vermilion, upper lip, thin (HP:0000219); mouth, downturned corners of (HP:0002714); finger, tapered (HP:0001182);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319351" "05611" "00428446" "00006" "Familial, autosomal recessive" "" "no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); short length at birth; no feeding difficulties (-HP:0008872); failure to thrive (HP:0001508); short stature (HP:0004322); no overweight (-HP:0025502); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); abnormal skull morphology (HP:0000929); no abnormality face (-HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); no abnormality neck (-HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); no seizure (-HP:0001250); no hypotonia (-HP:0001252); abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); no abnormality genitourinary system (-HP:0000119); no abnormality respiratory system (-HP:0002086); epicanthus (HP:0000286); eyes, widely spaced (HP:0000316); columella, low hanging (HP:0009765); nose, short (HP:0003196); finger, short (HP:0009381); finger, tapered (HP:0001182); nail, narrow (HP:0011313);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319352" "05611" "00428447" "00006" "Familial, autosomal recessive" "" "no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); short length at birth; feeding difficulties (HP:0008872); failure to thrive (HP:0001508); no short stature (-HP:0004322); no overweight (-HP:0025502); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); no seizure (-HP:0001250); hypotonia (HP:0001252); abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); abnormality genitourinary system (HP:0000119); abnormality respiratory system (HP:0002086); hairline, high anterior (HP:0009890); scalp hair, sparse (HP:0002209); frontal bossing (HP:0002007); forehead, high (HP:0000348); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); retrognathia (HP:0000278); chin, broad (HP:0011822); chin, tall (HP:0400000); epicanthus (HP:0000286); eyes, widely spaced (HP:0000316); deeply set eyes (HP:0000490); eyebrow, sparse (HP:0045075); palpebral fissure, short (HP:0012745); columella, short (HP:0002000); naris, narrow (HP:0009933); nasal bridge, depressed (HP:0005280); nasal bridge, wide (HP:0000431); nasal tip, broad (HP:0000455); nose, short (HP:0003196); philtrum, long (HP:0000343); vermilion, upper lip, thin (HP:0000219);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319353" "05611" "00428448" "00006" "Familial, autosomal recessive" "" "no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); short length at birth; no feeding difficulties (-HP:0008872); failure to thrive (HP:0001508); no short stature (-HP:0004322); obesity (HP:0001513); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); abnormal skull morphology (HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); moderate intellectual disability (HP:0001249); no seizure (-HP:0001250); hypotonia (HP:0001252); abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); abnormality genitourinary system (HP:0000119); no abnormality respiratory system (-HP:0002086); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); chin, tall (HP:0400000); eyes, widely spaced (HP:0000316); eyebrow, sparse (HP:0045075); ptosis (HP:0000508); columella, short (HP:0002000); naris, narrow (HP:0009933); naris, notched (HP:0003191); anteverted nares (HP:0000463); nasal bridge, prominent (HP:0000426); nasal bridge, wide (HP:0000431); nasal tip, broad (HP:0000455); nose, short (HP:0003196); philtrum, long (HP:0000343); vermilion, upper lip, thick (HP:0000215); central incisor, prominent (HP:0000675); metatarsal, short (HP:0010743); thumb, broad (HP:0011304); toes, overlapping (HP:0001845); toe, short (HP:0001831);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319354" "05611" "00428449" "00006" "Familial, autosomal recessive" "5y3m" "feeding difficulties (HP:0008872); failure to thrive (HP:0001508); short stature (HP:0004322); no overweight (-HP:0025502); microcephaly (HP:0000252); abnormal skull morphology (HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); global developmental delay (HP:0001263); moderate intellectual disability (HP:0001249); seizure (HP:0001250); abnormal brain morphology (HP:0012443), broadened gyri, small posterior staphyloma left eye globe; abnormality eye (HP:0000478); no abnormality respiratory system (-HP:0002086); hairline, high anterior (HP:0009890); forehead, narrow (HP:0000341); chin, broad (HP:0011822); epicanthus (HP:0000286); eyebrow, low-set; eyebrow, horizontal (HP:0011228); palpebral fissure, upslanted (HP:0000582); nasal bridge, depressed (HP:0005280); nasal tip, broad (HP:0000455); vermilion, lower lip, everted (HP:0000232); vermilion, lower lip, thick (HP:0000179);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319355" "05611" "00428450" "00006" "Familial, autosomal recessive" "5y3m" "short stature (HP:0004322); obesity (HP:0001513); abnormal skull morphology (HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); global developmental delay (HP:0001263); moderate intellectual disability (HP:0001249); abnormality eye (HP:0000478); hearing impairment (HP:0000365); face, coarse (HP:0000280); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); chin, broad (HP:0011822); eyebrow, low-set; eyebrow, horizontal (HP:0011228); eyebrow, sparse (HP:0045075); palpebral fissure, upslanted (HP:0000582); proptosis (HP:0000520); columella, short (HP:0002000); nasal bridge, depressed (HP:0005280); nasal tip, broad (HP:0000455); nose, short (HP:0003196); vermilion, lower lip, everted (HP:0000232); vemilion, upper lip, tented (HP:0010804); vermilion, upper lip, thick (HP:0000215);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319356" "05611" "00428451" "00006" "Familial, autosomal recessive" "" "obesity (HP:0001513); abnormal skull morphology (HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); hairline, high anterior (HP:0009890); forehead, high (HP:0000348); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); chin, broad (HP:0011822); palpebral fissure, long (HP:0000637); palpebral fissure, upslanted (HP:0000582); anteverted nares (HP:0000463); nasal tip, broad (HP:0000455); philtrum, short (HP:0000322); vermilion, lower lip, everted (HP:0000232); vermilion, lower lip, thick (HP:0000179); vermilion, upper lip, thin (HP:0000219); central incisor, prominent (HP:0000675);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319357" "05611" "00428452" "00006" "Familial, autosomal recessive" "5m" "short length at birth; feeding difficulties (HP:0008872); short stature (HP:0004322); no overweight (-HP:0025502); microcephaly birth (HP:0011451); microcephaly (HP:0000252); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormality hand (HP:0001155); global developmental delay (HP:0001263); abnormal brain morphology (HP:0012443), brain ultrasound premature gyral pattern indicates patient\'s prematurity; hairline, high anterior (HP:0009890); forehead, narrow (HP:0000341); midface hypoplasia malar flattening (HP:0011800 HP:0000272); chin, broad (HP:0011822); deeply set eyes (HP:0000490); eyebrow, sparse (HP:0045075); columella, short (HP:0002000); naris, narrow (HP:0009933); anteverted nares (HP:0000463); nasal bridge, depressed (HP:0005280); nasal bridge, wide (HP:0000431); nasal tip, broad (HP:0000455); philtrum, smooth (HP:0000319); vermilion, upper lip, thin (HP:0000219); finger, tapered (HP:0001182); hallux, valgus (HP:0001822); metacarpal, short (HP:0010049); thumb, broad (HP:0011304);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319358" "05611" "00428453" "00006" "Familial, autosomal recessive" "" "no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); normal length at birth; no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); short stature (HP:0004322); obesity (HP:0001513); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); abnormal skull morphology (HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); moderate intellectual disability (HP:0001249); seizure (HP:0001250); no hypotonia (-HP:0001252); normal brain morphology (HP:0012443); no abnormality eye (-HP:0000478); no hearing impairment (-HP:0000365); abnormality genitourinary system (HP:0000119); no abnormality respiratory system (-HP:0002086);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319359" "05611" "00428454" "00006" "Familial, autosomal recessive" "" "see paper; ..., no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); short length at birth; feeding difficulties (HP:0008872); failure to thrive (HP:0001508); short stature (HP:0004322); no overweight (-HP:0025502); microcephaly birth (HP:0011451); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), mild enlargement of the lateral ventricles (more on the right) and third ventricle; abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); no abnormality genitourinary system (-HP:0000119); abnormality respiratory system (HP:0002086); microcephaly (HP:0000252); hairline, high anterior (HP:0009890); scalp hair, sparse (HP:0002209); frontal bossing (HP:0002007); forehead, high (HP:0000348); forehead, narrow (HP:0000341); prognathism (HP:0000303); chin, tall (HP:0400000); eyes, widely spaced (HP:0000316); deeply set eyes (HP:0000490); eyebrow, sparse (HP:0045075); palpebral fissure, upslanted (HP:0000582); anteverted nares (HP:0000463); nasal bridge, depressed (HP:0005280); philtrum, long (HP:0000343); vermilion, upper lip, thin (HP:0000219); finger, short (HP:0009381); toe, short (HP:0001831);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319360" "05611" "00428455" "00006" "Familial, autosomal recessive" "" "see paper; ..., no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); normal length at birth; no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); no short stature (-HP:0004322); obesity (HP:0001513); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), left cerebellopontine angle lipoma; no abnormality eye (-HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); abnormality genitourinary system (HP:0000119); no abnormality respiratory system (-HP:0002086); frontal bossing (HP:0002007); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); prognathism (HP:0000303); chin, tall (HP:0400000); deeply set eyes (HP:0000490); anteverted nares (HP:0000463); nose, prominent (HP:0000448); philtrum, long (HP:0000343); philtrum, short (HP:0000322); vermilion, lower lip, everted (HP:0000232); vermilion, lower lip, thick (HP:0000179); vermilion, upper lip, thick (HP:0000215); finger, short (HP:0009381); finger, tapered (HP:0001182); metacarpal, short (HP:0010049); thumb, broad (HP:0011304); thumb, short (HP:0009778);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319361" "05611" "00428456" "00006" "Familial, autosomal recessive" "" "see paper; ..., no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); normal length at birth; no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); short stature (HP:0004322); obesity (HP:0001513); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); global developmental delay (HP:0001263); moderate intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); normal brain morphology (HP:0012443); abnormality eye (HP:0000478); hearing impairment (HP:0000365); abnormality endocrine system (HP:0000818); no abnormality genitourinary system (-HP:0000119); no abnormality respiratory system (-HP:0002086); hairline, high anterior (HP:0009890); frontal bossing (HP:0002007); forehead, high (HP:0000348); supraorbital ridges, prominent (HP:0000336); prognathism (HP:0000303); chin, tall (HP:0400000); deeply set eyes (HP:0000490); palpebral fissure, upslanted (HP:0000582); anteverted nares (HP:0000463); nasal tip, broad (HP:0000455); nose, prominent (HP:0000448); vermilion, lower lip, everted (HP:0000232); vermilion, lower lip, thick (HP:0000179); finger, short (HP:0009381); finger, tapered (HP:0001182); metacarpal, short (HP:0010049); thumb, broad (HP:0011304); thumb, short (HP:0009778);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319362" "05611" "00428457" "00006" "Familial, autosomal recessive" "" "small for gestational age (HP:0001518); short stature (HP:0004322); obesity (HP:0001513); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormal nasal morphology (HP:0005105); abnormality hand (HP:0001155); global developmental delay (HP:0001263); mild intellectual disability (HP:0001249); no seizure (-HP:0001250); abnormal brain morphology (HP:0012443), mild atrophy with compensatory ventricular dilation Multiple small foci of subcortical and periventricular high signal changes consistent with cerebral ischeamia; abnormality endocrine system (HP:0000818); abnormality genitourinary system (HP:0000119); hairline, high anterior (HP:0009890); scalp hair, sparse (HP:0002209); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); eyes, widely spaced (HP:0000316); columella, short (HP:0002000); nasal bridge, depressed (HP:0005280); nasal bridge, wide (HP:0000431); nose, short (HP:0003196); vermilion, lower lip, thick (HP:0000179); vemilion, upper lip, tented (HP:0010804); vermilion, upper lip, thick (HP:0000215); finger, short (HP:0009381);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319363" "05611" "00428458" "00006" "Familial, autosomal recessive" "" "short stature (HP:0004322); obesity (HP:0001513); global developmental delay (HP:0001263); mild intellectual disability (HP:0001249); seizure (HP:0001250); abnormality eye (HP:0000478); abnormality endocrine system (HP:0000818); metacarpal, short (HP:0010049);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319364" "05611" "00428459" "00006" "Familial, autosomal recessive" "" "not small for gestational age (-HP:0001518); no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); short stature (HP:0004322); obesity (HP:0001513); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); mild intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); no abnormality genitourinary system (-HP:0000119); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, tall (HP:0400000); eyes, widely spaced (HP:0000316); deeply set eyes (HP:0000490); eyebrow, sparse (HP:0045075); palpebral fissure, upslanted (HP:0000582); ptosis (HP:0000508); anteverted nares (HP:0000463); nasal bridge, depressed (HP:0005280); nasal bridge, wide (HP:0000431); nasal tip, broad (HP:0000455); nose, short (HP:0003196); philtrum, long (HP:0000343); philtrum, smooth (HP:0000319); vermilion, upper lip, thin (HP:0000219); central incisor, prominent (HP:0000675);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319365" "05611" "00428460" "00006" "Familial, autosomal recessive" "" "not small for gestational age (-HP:0001518); feeding difficulties (HP:0008872); failure to thrive (HP:0001508); no short stature (-HP:0004322); obesity (HP:0001513); microcephaly (HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); mild intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), asymmetrical extension of the cystenra magna around the left cerebellar hemisphere, otherwise normal; abnormality eye (HP:0000478); hearing impairment (HP:0000365); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); prognathism (HP:0000303); chin, tall (HP:0400000); eyebrow, sparse (HP:0045075); ptosis (HP:0000508); nasal tip, broad (HP:0000455); philtrum, long (HP:0000343); philtrum, smooth (HP:0000319); finger, short (HP:0009381); finger, tapered (HP:0001182); metacarpal, short (HP:0010049); metatarsal, short (HP:0010743); thumb, short (HP:0009778); toe, short (HP:0001831);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319366" "05611" "00428461" "00006" "Familial, autosomal recessive" "" "not small for gestational age (-HP:0001518); no feeding difficulties (-HP:0008872); failure to thrive (HP:0001508); short stature (HP:0004322); no overweight (-HP:0025502); microcephaly (HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormality hand (HP:0001155); global developmental delay (HP:0001263); mild intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); normal brain morphology (HP:0012443); abnormality eye (HP:0000478); no abnormality genitourinary system (-HP:0000119); prognathism (HP:0000303); chin, tall (HP:0400000); eyebrow, sparse (HP:0045075); ptosis (HP:0000508); nasal tip, broad (HP:0000455); philtrum, long (HP:0000343); mouth, narrow (HP:0000160); finger, short (HP:0009381); metacarpal, short (HP:0010049); metatarsal, short (HP:0010743); thumb, short (HP:0009778); toe, short (HP:0001831);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319367" "05611" "00428462" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); short length at birth; no short stature (-HP:0004322); no overweight (-HP:0025502); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality hand (HP:0001155); global developmental delay (HP:0001263); no seizure (-HP:0001250); hypotonia (HP:0001252); normal brain morphology (HP:0012443); no abnormality eye (-HP:0000478); hearing impairment (HP:0000365); scalp hair, sparse (HP:0002209); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, tall (HP:0400000); eyes, widely spaced (HP:0000316); deeply set eyes (HP:0000490); eyebrow, low-set; eyebrow, horizontal (HP:0011228); palpebral fissure, short (HP:0012745); synophrys (HP:0000664); columella, short (HP:0002000); nasal bridge, depressed (HP:0005280); nasal bridge, wide (HP:0000431); nose, short (HP:0003196); philtrum, long (HP:0000343); vermilion, lower lip, everted (HP:0000232); vermilion, lower lip, thick (HP:0000179); vermilion, upper lip, thin (HP:0000219); mouth, narrow (HP:0000160); metacarpal, short (HP:0010049); metatarsal, short (HP:0010743); toe, short (HP:0001831);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319368" "05611" "00428463" "00006" "Familial, autosomal recessive" "22y" "not small for gestational age (-HP:0001518); short stature (HP:0004322); no overweight (-HP:0025502); microcephaly (HP:0000252); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); mild intellectual disability (HP:0001249); no seizure (-HP:0001250); hypotonia (HP:0001252); normal brain morphology (HP:0012443); abnormality eye (HP:0000478); hearing impairment (HP:0000365); abnormality endocrine system (HP:0000818); microcephaly (HP:0000252); eyes, widely spaced (HP:0000316); palpebral fissure, upslanted (HP:0000582); naris, narrow (HP:0009933); nasal bridge, wide (HP:0000431); nasal tip, broad (HP:0000455); finger, short (HP:0009381); metacarpal, short (HP:0010049); metatarsal, short (HP:0010743); toe, short (HP:0001831);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319369" "05611" "00428464" "00006" "Familial, autosomal recessive" "17y7m" "short stature (HP:0004322); obesity (HP:0001513); microcephaly (HP:0000252); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); seizure (HP:0001250); no hypotonia (-HP:0001252); abnormal brain morphology (HP:0012443), small focus of established gliosis in the right parieto-occipital region (prior hemorrhage), generalized parenchimal atrophy; no abnormality eye (-HP:0000478); no hearing impairment (-HP:0000365); abnormality genitourinary system (HP:0000119); microcephaly (HP:0000252); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); prognathism (HP:0000303); chin, tall (HP:0400000); deeply set eyes (HP:0000490); eyebrow, sparse (HP:0045075); palpebral fissure, long (HP:0000637); palpebral fissure, upslanted (HP:0000582); ptosis (HP:0000508); nasal bridge, depressed (HP:0005280); nasal tip, broad (HP:0000455); vermilion, lower lip, everted (HP:0000232); vermilion, lower lip, thick (HP:0000179); high palate (HP:0000218); central incisor, prominent (HP:0000675); finger, short (HP:0009381); metacarpal, short (HP:0010049); metatarsal, short (HP:0010743); thumb, broad (HP:0011304); thumb, short (HP:0009778); toe, short (HP:0001831);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319370" "05611" "00428465" "00006" "Familial, autosomal recessive" "5y3m" "small for gestational age (HP:0001518); short stature (HP:0004322); overweight (HP:0025502); no microcephaly (-HP:0000252); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormality hand (HP:0001155); no abnormal foot morphology (-HP:0001760); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); abnormality genitourinary system (HP:0000119); forehead, narrow (HP:0000341); prognathism (HP:0000303); retrognathia (HP:0000278); chin, tall (HP:0400000); deeply set eyes (HP:0000490); eyebrow, highly arched (HP:0002553); eyebrow, sparse (HP:0045075); palpebral fissure, long (HP:0000637); ptosis (HP:0000508); nasal bridge, depressed (HP:0005280); nasal bridge, narrow (HP:0000446); nasal bridge, prominent (HP:0000426); vermilion, lower lip, thick (HP:0000179); finger, short (HP:0009381); metatarsal, short (HP:0010743);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319371" "05611" "00428466" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); short length at birth; feeding difficulties (HP:0008872); failure to thrive (HP:0001508); short stature (HP:0004322); no overweight (-HP:0025502); microcephaly birth (HP:0011451); microcephaly (HP:0000252); abnormal skull morphology (HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), delayed myelination, thick corpus callosum; no abnormality eye (-HP:0000478); no hearing impairment (-HP:0000365); abnormality genitourinary system (HP:0000119); abnormality respiratory system (HP:0002086); microcephaly (HP:0000252); face, coarse (HP:0000280); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); retrognathia (HP:0000278); chin, broad (HP:0011822); eyes, widely spaced (HP:0000316); deeply set eyes (HP:0000490); eyebrow, sparse (HP:0045075); palpebral fissure, short (HP:0012745); ptosis (HP:0000508); columella, short (HP:0002000); anteverted nares (HP:0000463); nasal bridge, depressed (HP:0005280); nasal bridge, wide (HP:0000431); nasal tip, broad (HP:0000455); nose, short (HP:0003196); philtrum, long (HP:0000343); vermilion, lower lip, thick (HP:0000179); vermilion, upper lip, thick (HP:0000215); high palate (HP:0000218); finger, short (HP:0009381); thumb, broad (HP:0011304); thumb, short (HP:0009778); nail, short (HP:0001799)" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319372" "05611" "00428467" "00006" "Familial, autosomal recessive" "21m" "see paper; ..., no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); failure to thrive (HP:0001508); short stature (HP:0004322); no overweight (-HP:0025502); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); global developmental delay (HP:0001263); mild intellectual disability (HP:0001249); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), delayed myelination, dysmorphic changes of the anterior horns and lateral ventricles, subtle periventricular calcifications; abnormality eye (HP:0000478); hearing impairment (HP:0000365); abnormality genitourinary system (HP:0000119); frontal bossing (HP:0002007); palpebral fissure, upslanted (HP:0000582); nasal bridge, depressed (HP:0005280); syndactyly/ webbing of the fingers (HP:0001159); finger, short (HP:0009381);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" "0000319373" "05611" "00428468" "00006" "Familial, autosomal recessive" "238d" "see paper; ..., no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); abnormal brain morphology (HP:0012443), pilocitic astrocitoma; abnormality eye (HP:0000478);" "" "" "" "" "" "" "" "" "SBIDDS" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 55 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000296912" "00295739" "1" "01164" "01164" "2020-03-26 12:29:44" "" "" "SEQ-NG-S" "DNA" "" "" "0000307385" "00306249" "1" "01807" "01807" "2020-07-13 13:19:01" "" "" "SEQ" "DNA" "" "" "0000309108" "00307964" "1" "00006" "00006" "2020-08-23 13:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000393114" "00391873" "1" "02494" "02494" "2021-11-19 13:04:43" "" "" "SEQ-NG" "DNA" "" "WES" "0000429830" "00428418" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429831" "00428419" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429832" "00428420" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429833" "00428421" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429834" "00428422" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429835" "00428423" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429836" "00428424" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429837" "00428425" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429838" "00428426" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429839" "00428427" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429840" "00428428" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429841" "00428429" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429842" "00428430" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429843" "00428431" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429844" "00428432" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429845" "00428433" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429846" "00428434" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429847" "00428435" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429848" "00428436" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429849" "00428437" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429850" "00428438" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429851" "00428439" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429852" "00428440" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429853" "00428441" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429854" "00428442" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429855" "00428443" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429856" "00428444" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429857" "00428445" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429858" "00428446" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429859" "00428447" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429860" "00428448" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429861" "00428449" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429862" "00428450" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429863" "00428451" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429864" "00428452" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429865" "00428453" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429866" "00428454" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429867" "00428455" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429868" "00428456" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429869" "00428457" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429870" "00428458" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429871" "00428459" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429872" "00428460" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429873" "00428461" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429874" "00428462" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429875" "00428463" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429876" "00428464" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429877" "00428465" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429878" "00428466" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429879" "00428467" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" "0000429880" "00428468" "1" "00006" "00006" "2023-01-03 19:34:32" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000309108" "PRMT7" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 100 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000324847" "0" "50" "16" "68358686" "68358686" "dup" "0" "01804" "PRMT7_000001" "g.68358686dup" "" "" "" "PRMT7(NM_001184824.1):c.132+3319_132+3320insT (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68324783dup" "" "VUS" "" "0000659561" "0" "90" "16" "68389688" "68389688" "subst" "8.26166E-6" "01164" "PRMT7_000004" "g.68389688C>A" "" "" "" "" "ACMG: PVS1,PM2,PM3" "Germline" "" "" "0" "" "" "g.68355785C>A" "" "pathogenic" "ACMG" "0000659562" "0" "70" "16" "68390602" "68390602" "subst" "0" "01164" "PRMT7_000005" "g.68390602A>G" "" "" "" "" "ACMG: PVS1,PM2" "Germline" "" "" "0" "" "" "g.68356699A>G" "" "likely pathogenic" "ACMG" "0000674008" "3" "70" "16" "68382336" "68382336" "subst" "0" "01807" "PRMT7_000006" "g.68382336T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000680631" "0" "30" "16" "68344265" "68344265" "subst" "8.26501E-6" "01943" "PRMT7_000007" "g.68344265A>C" "" "" "" "SLC7A6OS(NM_032178.3):c.444T>G (p.P148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683571" "3" "90" "16" "68358643" "68358643" "subst" "0" "00006" "PRMT7_000008" "g.68358643C>T" "" "{PMID:Anazi 2017:28940097}" "" "" "ACMG PVS1,PP1,PM2" "Germline" "" "" "0" "" "" "g.68324740C>T" "" "pathogenic (recessive)" "ACMG" "0000807526" "0" "50" "16" "68349971" "68349971" "subst" "2.06259E-5" "01943" "PRMT7_000009" "g.68349971T>C" "" "" "" "PRMT7(NM_001351143.1):c.89T>C (p.I30T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807527" "0" "30" "16" "68390628" "68390628" "subst" "0" "01943" "SMPD3_000003" "g.68390628G>A" "" "" "" "PRMT7(NM_001351143.1):c.1836G>A (p.V612=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807528" "0" "30" "16" "68391047" "68391047" "subst" "0.000329092" "01943" "SMPD3_000004" "g.68391047A>G" "" "" "" "PRMT7(NM_001351143.1):c.1999A>G (p.T667A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000823729" "21" "50" "16" "68380085" "68380085" "subst" "4.0625E-6" "02494" "PRMT7_000010" "g.68380085G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000823730" "11" "70" "16" "68391002" "68391004" "del" "0" "02494" "PRMT7_000011" "g.68391002_68391004del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68357099_68357101del" "" "likely pathogenic" "" "0000893130" "0" "70" "16" "68381151" "68381151" "subst" "0" "02327" "PRMT7_000012" "g.68381151A>C" "" "" "" "PRMT7(NM_019023.5):c.1229A>C (p.(Asp410Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000909463" "3" "90" "16" "68349964" "68349964" "subst" "8.24029E-6" "00006" "PRMT7_000018" "g.68349964C>T" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs763719331" "0" "" "" "g.68316061C>T" "" "pathogenic (recessive)" "ACMG" "0000909464" "3" "90" "16" "68349964" "68349964" "subst" "8.24029E-6" "00006" "PRMT7_000018" "g.68349964C>T" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs763719331" "0" "" "" "g.68316061C>T" "" "pathogenic (recessive)" "ACMG" "0000909465" "3" "90" "16" "68391056" "68391056" "del" "0" "00006" "PRMT7_000052" "g.68391056del" "" "{PMID:Cali 2022:36399134}" "" "2008delT" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.68357153del" "" "pathogenic (recessive)" "ACMG" "0000909466" "3" "50" "16" "68358733" "68358733" "subst" "1.21898E-5" "00006" "PRMT7_000023" "g.68358733G>A" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PM2, PP3,PP2" "Germline" "" "rs749656743" "0" "" "" "g.68324830G>A" "" "VUS" "ACMG" "0000909467" "1" "50" "16" "68363082" "68363082" "subst" "0" "00006" "PRMT7_000026" "g.68363082G>C" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.68329179G>C" "" "VUS" "ACMG" "0000909468" "1" "90" "16" "68373395" "68373398" "del" "0" "00006" "PRMT7_000029" "g.68373395_68373398del" "" "{PMID:Cali 2022:36399134}" "" "675_678delCTGT" "ACMG PVS1, PM2, PP3" "Germline" "" "rs773746102" "0" "" "" "g.68339492_68339495del" "" "pathogenic (recessive)" "ACMG" "0000909469" "1" "90" "16" "68373395" "68373398" "del" "0" "00006" "PRMT7_000029" "g.68373395_68373398del" "" "{PMID:Cali 2022:36399134}" "" "675_678delCTGT" "ACMG PVS1, PM2, PP3" "Germline" "" "rs773746102" "0" "" "" "g.68339492_68339495del" "" "pathogenic (recessive)" "ACMG" "0000909470" "3" "90" "16" "68363008" "68363008" "subst" "1.62451E-5" "00006" "PRMT7_000024" "g.68363008G>T" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs1014959895" "0" "" "" "g.68329105G>T" "" "pathogenic (recessive)" "ACMG" "0000909471" "3" "90" "16" "68380047" "68380047" "subst" "6.93125E-5" "00006" "PRMT7_000035" "g.68380047G>T" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs201824659" "0" "" "" "g.68346144G>T" "" "pathogenic (recessive)" "ACMG" "0000909472" "1" "90" "16" "68380047" "68380047" "subst" "6.93125E-5" "00006" "PRMT7_000035" "g.68380047G>T" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs201824659" "0" "" "" "g.68346144G>T" "" "pathogenic (recessive)" "ACMG" "0000909473" "1" "50" "16" "68373685" "68373685" "subst" "4.06227E-6" "00006" "PRMT7_000031" "g.68373685C>G" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PM2, PM4, PP3" "Germline" "" "rs1328582268" "0" "" "" "g.68339782C>G" "" "VUS" "ACMG" "0000909474" "3" "90" "16" "68363008" "68363008" "subst" "1.62451E-5" "00006" "PRMT7_000024" "g.68363008G>T" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs1014959895" "0" "" "" "g.68329105G>T" "" "pathogenic (recessive)" "ACMG" "0000909475" "1" "90" "16" "68373818" "68373818" "del" "0" "00006" "PRMT7_000033" "g.68373818del" "" "{PMID:Cali 2022:36399134}" "" "874delA" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.68339915del" "" "pathogenic (recessive)" "ACMG" "0000909476" "3" "90" "16" "68380097" "68380097" "subst" "8.12301E-6" "00006" "PRMT7_000038" "g.68380097C>T" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs758354490" "0" "" "" "g.68346194C>T" "" "pathogenic (recessive)" "ACMG" "0000909477" "1" "90" "16" "68389688" "68389688" "subst" "8.26166E-6" "00006" "PRMT7_000004" "g.68389688C>A" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs1251713297" "0" "" "" "g.68355785C>A" "" "pathogenic (recessive)" "ACMG" "0000909478" "1" "90" "16" "68358686" "68358686" "dup" "0" "00006" "PRMT7_000001" "g.68358686dup" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs770132709" "0" "" "" "g.68324783dup" "" "pathogenic (recessive)" "ACMG" "0000909479" "3" "90" "16" "68358643" "68358643" "subst" "0" "00006" "PRMT7_000008" "g.68358643C>T" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.68324740C>T" "" "pathogenic (recessive)" "ACMG" "0000909480" "3" "90" "16" "68358643" "68358643" "subst" "0" "00006" "PRMT7_000008" "g.68358643C>T" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.68324740C>T" "" "pathogenic (recessive)" "ACMG" "0000909481" "1" "50" "16" "68358690" "68358692" "del" "0" "00006" "PRMT7_000022" "g.68358690_68358692del" "" "{PMID:Cali 2022:36399134}" "" "237_239delAAT" "ACMG PM2, PM4, PP3" "Germline" "" "rs1461756216" "0" "" "" "g.68324787_68324789del" "" "VUS" "ACMG" "0000909482" "3" "90" "16" "68382336" "68382336" "subst" "0" "00006" "PRMT7_000006" "g.68382336T>G" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.68348433T>G" "" "pathogenic (recessive)" "ACMG" "0000909483" "3" "90" "16" "68373764" "68373764" "subst" "2.84241E-5" "00006" "PRMT7_000032" "g.68373764C>T" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs372375423" "0" "" "" "g.68339861C>T" "" "pathogenic (recessive)" "ACMG" "0000909484" "3" "90" "16" "68373764" "68373764" "subst" "2.84241E-5" "00006" "PRMT7_000032" "g.68373764C>T" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs372375423" "0" "" "" "g.68339861C>T" "" "pathogenic (recessive)" "ACMG" "0000909485" "1" "90" "16" "68349933" "68349933" "subst" "1.23021E-5" "00006" "PRMT7_000017" "g.68349933G>A" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs1295361744" "0" "" "" "g.68316030G>A" "" "pathogenic (recessive)" "ACMG" "0000909486" "1" "90" "16" "68358601" "68358601" "subst" "0" "00006" "PRMT7_000021" "g.68358601C>T" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.68324698C>T" "" "pathogenic (recessive)" "ACMG" "0000909487" "3" "90" "16" "68349964" "68349964" "subst" "8.24029E-6" "00006" "PRMT7_000018" "g.68349964C>T" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs763719331" "0" "" "" "g.68316061C>T" "" "pathogenic (recessive)" "ACMG" "0000909488" "3" "90" "16" "68349964" "68349964" "subst" "8.24029E-6" "00006" "PRMT7_000018" "g.68349964C>T" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs763719331" "0" "" "" "g.68316061C>T" "" "pathogenic (recessive)" "ACMG" "0000909489" "3" "90" "16" "68349964" "68349964" "subst" "8.24029E-6" "00006" "PRMT7_000018" "g.68349964C>T" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs763719331" "0" "" "" "g.68316061C>T" "" "pathogenic (recessive)" "ACMG" "0000909490" "1" "50" "16" "68371463" "68371463" "subst" "0" "00006" "PRMT7_000028" "g.68371463C>T" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PM2, PP2, BP4" "Germline" "" "" "0" "" "" "g.68337560C>T" "" "VUS" "ACMG" "0000909491" "1" "50" "16" "68389653" "68389653" "subst" "2.09615E-5" "00006" "PRMT7_000046" "g.68389653G>A" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PM2, PM1, PP2, PP3" "Germline" "" "rs770892656" "0" "" "" "g.68355750G>A" "" "VUS" "ACMG" "0000909492" "3" "90" "16" "68373764" "68373764" "subst" "2.84241E-5" "00006" "PRMT7_000032" "g.68373764C>T" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs372375423" "0" "" "" "g.68339861C>T" "" "pathogenic (recessive)" "ACMG" "0000909493" "1" "90" "16" "68355337" "68355337" "dup" "0" "00006" "PRMT7_000020" "g.68355337dup" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.68321434dup" "" "pathogenic (recessive)" "ACMG" "0000909494" "1" "90" "16" "68390956" "68390956" "subst" "0" "00006" "PRMT7_000049" "g.68390956G>T" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.68357053G>T" "" "pathogenic (recessive)" "ACMG" "0000909495" "1" "90" "16" "68390956" "68390956" "subst" "0" "00006" "PRMT7_000049" "g.68390956G>T" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.68357053G>T" "" "pathogenic (recessive)" "ACMG" "0000909496" "1" "90" "16" "68390956" "68390956" "subst" "0" "00006" "PRMT7_000049" "g.68390956G>T" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.68357053G>T" "" "pathogenic (recessive)" "ACMG" "0000909497" "3" "50" "16" "68381150" "68381150" "subst" "0" "00006" "PRMT7_000040" "g.68381150G>A" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PM2, PP2, PP3" "Germline" "" "rs750193958" "0" "" "" "g.68347247G>A" "" "VUS" "ACMG" "0000909498" "1" "90" "16" "68373398" "68373399" "del" "0" "00006" "PRMT7_000030" "g.68373398_68373399del" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.68339495_68339496del" "" "pathogenic (recessive)" "ACMG" "0000909499" "3" "90" "16" "68363008" "68363008" "subst" "1.62451E-5" "00006" "PRMT7_000024" "g.68363008G>T" "" "{PMID:Agolini 2018:28902392}, {PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs1014959895" "0" "" "" "g.68329105G>T" "" "pathogenic (recessive)" "ACMG" "0000909500" "3" "90" "16" "68386227" "68386227" "subst" "2.85663E-5" "00006" "PRMT7_000045" "g.68386227G>A" "" "{PMID:Agolini 2018:28902392}, {PMID:Cali 2022:36399134}" "" "" "ACMG PM1, PM2, PP2" "Germline" "" "rs753756119" "0" "" "" "g.68352324G>A" "" "pathogenic (recessive)" "ACMG" "0000909501" "3" "90" "16" "68386227" "68386227" "subst" "2.85663E-5" "00006" "PRMT7_000045" "g.68386227G>A" "" "{PMID:Agolini 2018:28902392}, {PMID:Cali 2022:36399134}" "" "" "ACMG PM1, PM2, PP2" "Germline" "" "rs753756119" "0" "" "" "g.68352324G>A" "" "pathogenic (recessive)" "ACMG" "0000909502" "1" "90" "16" "68381533" "68381533" "subst" "4.06121E-6" "00006" "PRMT7_000042" "g.68381533G>A" "" "{PMID:Akawi 2015:26437029}, {PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs886039897" "0" "" "" "g.68347630G>A" "" "pathogenic (recessive)" "ACMG" "0000909503" "1" "90" "16" "68381533" "68381533" "subst" "4.06121E-6" "00006" "PRMT7_000042" "g.68381533G>A" "" "{PMID:Akawi 2015:26437029}, {PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs886039897" "0" "" "" "g.68347630G>A" "" "pathogenic (recessive)" "ACMG" "0000909504" "1" "90" "16" "68349977" "68349977" "subst" "1.23977E-5" "00006" "PRMT7_000019" "g.68349977G>C" "" "{PMID:Akawi 2015:26437029}, {PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs149170494" "0" "" "" "g.68316074G>C" "" "pathogenic (recessive)" "ACMG" "0000909505" "1" "90" "16" "68349977" "68349977" "subst" "1.23977E-5" "00006" "PRMT7_000019" "g.68349977G>C" "" "{PMID:Akawi 2015:26437029}, {PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs149170494" "0" "" "" "g.68316074G>C" "" "pathogenic (recessive)" "ACMG" "0000909506" "1" "90" "16" "68349977" "68349977" "subst" "1.23977E-5" "00006" "PRMT7_000019" "g.68349977G>C" "" "{PMID:Akawi 2015:26437029}, {PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs149170494" "0" "" "" "g.68316074G>C" "" "pathogenic (recessive)" "ACMG" "0000909507" "1" "90" "16" "68371401" "68371402" "del" "0" "00006" "PRMT7_000027" "g.68371401_68371402del" "" "{PMID:Valenzuela 2019:30006058}, {PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs1567690011" "0" "" "" "g.68337498_68337499del" "" "pathogenic (recessive)" "ACMG" "0000909508" "1" "90" "16" "68349977" "68349977" "subst" "1.23977E-5" "00006" "PRMT7_000019" "g.68349977G>C" "" "{PMID:Akawi 2015:26437029}, {PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs149170494" "0" "" "" "g.68316074G>C" "" "pathogenic (recessive)" "ACMG" "0000909509" "3" "90" "16" "68380089" "68380089" "subst" "0" "00006" "PRMT7_000037" "g.68380089G>A" "" "{PMID:Poquerusse 2022:34244600}, {PMID:Cali 2022:36399134}" "" "" "ACMG PM2, PM1, PP2, PP3" "Germline" "" "" "0" "" "" "g.68346186G>A" "" "pathogenic (recessive)" "ACMG" "0000909510" "3" "90" "16" "68380089" "68380089" "subst" "0" "00006" "PRMT7_000037" "g.68380089G>A" "" "{PMID:Poquerusse 2022:34244600}, {PMID:Cali 2022:36399134}" "" "" "ACMG PM2, PM1, PP2, PP3" "Germline" "" "" "0" "" "" "g.68346186G>A" "" "pathogenic (recessive)" "ACMG" "0000909511" "3" "70" "16" "68345748" "68361057" "del" "0" "00006" "PRMT7_000014" "g.68345748_68361057del" "" "{PMID:Kernohan 2016:27718516}" "" "hg19 68345747-68361056" "15,309bp del transcription site" "Germline" "" "" "0" "" "" "g.68311845_68327154del" "" "likely pathogenic (recessive)" "ACMG" "0000909512" "3" "90" "16" "68380066" "68380067" "del" "0" "00006" "PRMT7_000036" "g.68380066_68380067del" "" "{PMID:Birnbaum 2019:30513135}" "" "1074_1075delAG" "ACMG PVS1, PM2" "Germline" "" "rs763953657" "0" "" "" "g.68346163_68346164del" "" "pathogenic (recessive)" "ACMG" "0000909513" "3" "90" "16" "68380066" "68380067" "del" "0" "00006" "PRMT7_000036" "g.68380066_68380067del" "" "{PMID:Birnbaum 2019:30513135}" "" "1074_1075delAG" "ACMG PVS1, PM2" "Germline" "" "rs763953657" "0" "" "" "g.68346163_68346164del" "" "pathogenic (recessive)" "ACMG" "0000909514" "2" "50" "16" "68363060" "68363060" "subst" "0" "00006" "PRMT7_000025" "g.68363060A>G" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PM2, PP2, PP3" "Germline" "" "" "0" "" "" "g.68329157A>G" "" "VUS" "ACMG" "0000909515" "2" "70" "16" "68379650" "68379650" "dup" "0" "00006" "PRMT7_000034" "g.68379650dup" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.68345747dup" "" "likely pathogenic (recessive)" "ACMG" "0000909516" "2" "70" "16" "68379650" "68379650" "dup" "0" "00006" "PRMT7_000034" "g.68379650dup" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.68345747dup" "" "likely pathogenic (recessive)" "ACMG" "0000909517" "2" "90" "16" "68373764" "68373764" "subst" "2.84241E-5" "00006" "PRMT7_000032" "g.68373764C>T" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs372375423" "0" "" "" "g.68339861C>T" "" "pathogenic (recessive)" "ACMG" "0000909518" "2" "50" "16" "68389686" "68389686" "subst" "0" "00006" "PRMT7_000047" "g.68389686T>C" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PM1, PM2, PP2, PP3" "Germline" "" "" "0" "" "" "g.68355783T>C" "" "VUS" "ACMG" "0000909519" "2" "70" "16" "68358585" "68363078" "del" "0" "00006" "PRMT7_000015" "g.(68355366_68358585)_(68363078_68371361)del" "" "{PMID:Cali 2022:36399134}" "" "del ex5-6" "" "Germline" "" "" "0" "" "" "g.(68321463_68324682)_(68329175_68337458)del" "" "likely pathogenic (recessive)" "ACMG" "0000909520" "2" "90" "16" "68390602" "68390602" "subst" "0" "00006" "PRMT7_000005" "g.68390602A>G" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.68356699A>G" "" "pathogenic (recessive)" "ACMG" "0000909521" "2" "70" "16" "68305593" "68513886" "del" "0" "00006" "PRMT7_000016" "g.(?_68305593)_(68513886_?)del" "" "{PMID:Cali 2022:36399134}" "" "16q22.1(68,305,593-68,513,886)x1" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000909522" "2" "90" "16" "68380047" "68380047" "subst" "6.93125E-5" "00006" "PRMT7_000035" "g.68380047G>T" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs201824659" "0" "" "" "g.68346144G>T" "" "pathogenic (recessive)" "ACMG" "0000909523" "2" "90" "16" "68382244" "68382244" "subst" "0" "00006" "PRMT7_000043" "g.68382244G>C" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.68348341G>C" "" "pathogenic (recessive)" "ACMG" "0000909524" "2" "90" "16" "68380047" "68380047" "subst" "6.93125E-5" "00006" "PRMT7_000035" "g.68380047G>T" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs201824659" "0" "" "" "g.68346144G>T" "" "pathogenic (recessive)" "ACMG" "0000909525" "2" "90" "16" "68390956" "68390956" "subst" "0" "00006" "PRMT7_000050" "g.68390956G>A" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.68357053G>A" "" "pathogenic (recessive)" "ACMG" "0000909526" "2" "50" "16" "68390963" "68390963" "subst" "0.000229785" "00006" "PRMT7_000051" "g.68390963T>C" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PM1, PM2, PP2" "Germline" "" "rs138108105" "0" "" "" "g.68357060T>C" "" "VUS" "ACMG" "0000909527" "2" "70" "16" "68379650" "68379650" "dup" "0" "00006" "PRMT7_000034" "g.68379650dup" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.68345747dup" "" "likely pathogenic (recessive)" "ACMG" "0000909528" "2" "70" "16" "68389755" "68389756" "del" "8.38314E-6" "00006" "PRMT7_000048" "g.68389755_68389756del" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.68355852_68355853del" "" "likely pathogenic (recessive)" "ACMG" "0000909529" "2" "70" "16" "68389755" "68389756" "del" "8.38314E-6" "00006" "PRMT7_000048" "g.68389755_68389756del" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.68355852_68355853del" "" "likely pathogenic (recessive)" "ACMG" "0000909530" "2" "70" "16" "68389755" "68389756" "del" "8.38314E-6" "00006" "PRMT7_000048" "g.68389755_68389756del" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.68355852_68355853del" "" "likely pathogenic (recessive)" "ACMG" "0000909531" "2" "50" "16" "68381151" "68381151" "subst" "0" "00006" "PRMT7_000012" "g.68381151A>C" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PM2, PP2, PP3" "Germline" "" "" "0" "" "" "g.68347248A>C" "" "VUS" "ACMG" "0000909532" "2" "70" "16" "68386217" "68386217" "subst" "8.14239E-6" "00006" "PRMT7_000044" "g.68386217T>C" "" "{PMID:Akawi 2015:26437029}, {PMID:Cali 2022:36399134}" "" "" "ACMG PS1, PM1, PM2, PP2, PP3" "Germline" "" "rs751670999" "0" "" "" "g.68352314T>C" "" "likely pathogenic (recessive)" "ACMG" "0000909533" "2" "70" "16" "68386217" "68386217" "subst" "8.14239E-6" "00006" "PRMT7_000044" "g.68386217T>C" "" "{PMID:Akawi 2015:26437029}, {PMID:Cali 2022:36399134}" "" "" "ACMG PS1, PM1, PM2, PP2, PP3" "Germline" "" "rs751670999" "0" "" "" "g.68352314T>C" "" "likely pathogenic (recessive)" "ACMG" "0000909534" "2" "90" "16" "68380047" "68380047" "subst" "6.93125E-5" "00006" "PRMT7_000035" "g.68380047G>T" "" "{PMID:Akawi 2015:26437029}, {PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs201824659" "0" "" "" "g.68346144G>T" "" "pathogenic (recessive)" "ACMG" "0000909535" "2" "90" "16" "68380047" "68380047" "subst" "6.93125E-5" "00006" "PRMT7_000035" "g.68380047G>T" "" "{PMID:Akawi 2015:26437029}, {PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs201824659" "0" "" "" "g.68346144G>T" "" "pathogenic (recessive)" "ACMG" "0000909536" "2" "90" "16" "68380047" "68380047" "subst" "6.93125E-5" "00006" "PRMT7_000035" "g.68380047G>T" "" "{PMID:Akawi 2015:26437029}, {PMID:Cali 2022:36399134}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs201824659" "0" "" "" "g.68346144G>T" "" "pathogenic (recessive)" "ACMG" "0000909537" "2" "90" "16" "68381161" "68381168" "dup" "0" "00006" "PRMT7_000041" "g.68381161_68381168dup" "" "{PMID:Valenzuela 2019:30006058}, {PMID:Cali 2022:36399134}" "" "1239_1246dupGCTCTCCG" "ACMG PM1, PM2, PP2, PP3" "Germline" "" "rs1567721991" "0" "" "" "g.68347258_68347265dup" "" "pathogenic (recessive)" "ACMG" "0000909538" "2" "90" "16" "68380151" "68380151" "subst" "4.8729E-5" "00006" "PRMT7_000039" "g.68380151A>G" "" "{PMID:Akawi 2015:26437029}, {PMID:Cali 2022:36399134}" "" "" "ACMG PM1, PM2, PP2, PP3" "Germline" "" "rs762515973" "0" "" "" "g.68346248A>G" "" "pathogenic (recessive)" "ACMG" "0000909539" "1" "50" "16" "68373837" "68373837" "subst" "0" "00006" "PRMT7_000013" "g.68373837C>T" "" "{PMID:Cali 2022:36399134}" "" "" "ACMG PM2, PP2, PP3; variant only listed in SupFig" "Germline" "" "" "0" "" "" "g.68339934C>T" "" "VUS" "ACMG" "0000982000" "0" "50" "16" "68358663" "68358663" "subst" "0.000183117" "01804" "PRMT7_000053" "g.68358663C>T" "" "" "" "PRMT7(NM_001378020.1):c.112C>T (p.(His38Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982001" "0" "50" "16" "68373719" "68373719" "subst" "4.06124E-6" "01804" "PRMT7_000054" "g.68373719T>C" "" "" "" "PRMT7(NM_019023.5):c.775T>C (p.(Ser259Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982002" "0" "30" "16" "68379571" "68379571" "subst" "0.000211754" "01804" "PRMT7_000055" "g.68379571G>A" "" "" "" "PRMT7(NM_019023.5):c.928-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015415" "0" "50" "16" "68387458" "68387458" "subst" "4.56888E-6" "02325" "SMPD3_000007" "g.68387458G>C" "" "" "" "PRMT7(NM_019023.5):c.1639G>C (p.D547H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015416" "0" "50" "16" "68389657" "68389657" "subst" "0.000108799" "02325" "SMPD3_000008" "g.68389657C>G" "" "" "" "PRMT7(NM_019023.5):c.1682C>G (p.(Ala561Gly), p.A561G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041267" "0" "50" "16" "68358725" "68358725" "subst" "5.28073E-5" "01804" "PRMT7_000056" "g.68358725A>G" "" "" "" "PRMT7(NM_019023.5):c.272A>G (p.(Tyr91Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041268" "0" "70" "16" "68380047" "68380047" "subst" "6.93125E-5" "01804" "PRMT7_000035" "g.68380047G>T" "" "" "" "PRMT7(NM_019023.5):c.1056-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001041269" "0" "50" "16" "68381151" "68381151" "subst" "0" "01804" "PRMT7_000012" "g.68381151A>C" "" "" "" "PRMT7(NM_019023.5):c.1229A>C (p.(Asp410Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041270" "0" "50" "16" "68387362" "68387362" "subst" "0" "01804" "SMPD3_000009" "g.68387362G>A" "" "" "" "PRMT7(NM_001351144.3):c.1546G>A (p.(Ala516Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041271" "0" "50" "16" "68389657" "68389657" "subst" "0.000108799" "01804" "SMPD3_000008" "g.68389657C>G" "" "" "" "PRMT7(NM_019023.5):c.1682C>G (p.(Ala561Gly), p.A561G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041272" "0" "50" "16" "68391075" "68391075" "subst" "0" "01804" "SMPD3_000010" "g.68391075C>G" "" "" "" "PRMT7(NM_019023.5):c.2027C>G (p.(Pro676Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PRMT7 ## Count = 100 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000324847" "00016869" "50" "233" "0" "233" "0" "c.233dup" "r.(?)" "p.(Leu78PhefsTer24)" "" "0000659561" "00016869" "90" "1713" "0" "1713" "0" "c.1713C>A" "r.(?)" "p.(Cys571*)" "" "0000659562" "00016869" "70" "1812" "-2" "1812" "-2" "c.1812-2A>G" "r.(?)" "p.(?)" "" "0000674008" "00016869" "70" "1263" "2" "1263" "2" "c.1263+2T>G" "r.(?)" "p.(?)" "" "0000680631" "00016869" "30" "-956" "0" "-956" "0" "c.-956A>C" "r.(?)" "p.(=)" "" "0000683571" "00016869" "90" "190" "0" "190" "0" "c.190C>T" "r.(?)" "p.(Gln64*)" "" "0000807526" "00016869" "50" "89" "0" "89" "0" "c.89T>C" "r.(?)" "p.(Ile30Thr)" "" "0000807527" "00016869" "30" "1836" "0" "1836" "0" "c.1836G>A" "r.(?)" "p.(Val612=)" "" "0000807528" "00016869" "30" "1999" "0" "1999" "0" "c.1999A>G" "r.(?)" "p.(Thr667Ala)" "" "0000823729" "00016869" "50" "1093" "0" "1093" "0" "c.1093G>T" "r.(?)" "p.(Val365Leu)" "" "0000823730" "00016869" "70" "1954" "0" "1956" "0" "c.1954_1956del" "r.(?)" "p.(Phe652del)" "" "0000893130" "00016869" "70" "1229" "0" "1229" "0" "c.1229A>C" "r.(?)" "p.(Asp410Ala)" "" "0000909463" "00016869" "90" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Gln28Ter)" "3" "0000909464" "00016869" "90" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Gln28Ter)" "3" "0000909465" "00016869" "90" "2008" "0" "2008" "0" "c.2008del" "r.(?)" "p.(Tyr670MetfsTer27)" "19" "0000909466" "00016869" "50" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Glu94Lys)" "5" "0000909467" "00016869" "50" "391" "5" "391" "5" "c.391+5G>C" "r.spl" "p.?" "6i" "0000909468" "00016869" "90" "675" "0" "678" "0" "c.675_678del" "r.(?)" "p.(Cys226ThrfsTer4)" "8" "0000909469" "00016869" "90" "675" "0" "678" "0" "c.675_678del" "r.(?)" "p.(Cys226ThrfsTer4)" "8" "0000909470" "00016869" "90" "322" "0" "322" "0" "c.322G>T" "r.(?)" "p.(Glu108Ter)" "6" "0000909471" "00016869" "90" "1056" "-1" "1056" "-1" "c.1056-1G>T" "r.spl" "p.?" "10i" "0000909472" "00016869" "90" "1056" "-1" "1056" "-1" "c.1056-1G>T" "r.spl" "p.?" "10i" "0000909473" "00016869" "50" "747" "-6" "747" "-6" "c.747-6C>G" "r.spl" "p.?" "8i" "0000909474" "00016869" "90" "322" "0" "322" "0" "c.322G>T" "r.(?)" "p.(Glu108Ter)" "6" "0000909475" "00016869" "90" "874" "0" "874" "0" "c.874del" "r.(?)" "p.(Ile292SerfsTer45)" "9" "0000909476" "00016869" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Gln369Ter)" "11" "0000909477" "00016869" "90" "1713" "0" "1713" "0" "c.1713C>A" "r.(?)" "p.(Cys571Ter)" "17" "0000909478" "00016869" "90" "233" "0" "233" "0" "c.233dup" "r.(?)" "p.(Leu78PhefsTer24)" "5" "0000909479" "00016869" "90" "190" "0" "190" "0" "c.190C>T" "r.(?)" "p.(Gln64Ter)" "5" "0000909480" "00016869" "90" "190" "0" "190" "0" "c.190C>T" "r.(?)" "p.(Gln64Ter)" "5" "0000909481" "00016869" "50" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Met81del)" "5" "0000909482" "00016869" "90" "1413" "2" "1413" "2" "c.1413+2T>G" "r.spl" "p.?" "14i" "0000909483" "00016869" "90" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Arg274Ter)" "9" "0000909484" "00016869" "90" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Arg274Ter)" "9" "0000909485" "00016869" "90" "51" "0" "51" "0" "c.51G>A" "r.(?)" "p.(Trp17Ter)" "3" "0000909486" "00016869" "90" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Gln50Ter)" "5" "0000909487" "00016869" "90" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Gln28Ter)" "3" "0000909488" "00016869" "90" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Gln28Ter)" "3" "0000909489" "00016869" "90" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Gln28Ter)" "3" "0000909490" "00016869" "50" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(His165Tyr)" "7" "0000909491" "00016869" "50" "1678" "0" "1678" "0" "c.1678G>A" "r.(?)" "p.(Glu560Lys)" "17" "0000909492" "00016869" "90" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Arg274Ter)" "9" "0000909493" "00016869" "90" "104" "0" "104" "0" "c.104dup" "r.(?)" "p.(Tyr35Ter)" "4" "0000909494" "00016869" "90" "1909" "-1" "1909" "-1" "c.1909-1G>T" "r.spl" "p.?" "18i" "0000909495" "00016869" "90" "1909" "-1" "1909" "-1" "c.1909-1G>T" "r.spl" "p.?" "18i" "0000909496" "00016869" "90" "1909" "-1" "1909" "-1" "c.1909-1G>T" "r.spl" "p.?" "18i" "0000909497" "00016869" "50" "1228" "0" "1228" "0" "c.1228G>A" "r.(?)" "p.(Asp410Asn)" "12" "0000909498" "00016869" "90" "678" "0" "679" "0" "c.678_679del" "r.(?)" "p.(Cys226Ter)" "8" "0000909499" "00016869" "90" "322" "0" "322" "0" "c.322G>T" "r.(?)" "p.(Glu108Ter)" "6" "0000909500" "00016869" "90" "1490" "0" "1490" "0" "c.1490G>A" "r.(?)" "p.(Arg497Gln)" "15" "0000909501" "00016869" "90" "1490" "0" "1490" "0" "c.1490G>A" "r.(?)" "p.(Arg497Gln)" "15" "0000909502" "00016869" "90" "1276" "-1" "1276" "-1" "c.1276-1G>A" "r.spl" "p.?" "12i" "0000909503" "00016869" "90" "1276" "-1" "1276" "-1" "c.1276-1G>A" "r.spl" "p.?" "12i" "0000909504" "00016869" "90" "95" "0" "95" "0" "c.95G>C" "r.(?)" "p.(Arg32Thr)" "3" "0000909505" "00016869" "90" "95" "0" "95" "0" "c.95G>C" "r.(?)" "p.(Arg32Thr)" "3" "0000909506" "00016869" "90" "95" "0" "95" "0" "c.95G>C" "r.(?)" "p.(Arg32Thr)" "3" "0000909507" "00016869" "90" "431" "0" "432" "0" "c.431_432del" "r.(?)" "p.(Glu144ValfsTer3)" "7" "0000909508" "00016869" "90" "95" "0" "95" "0" "c.95G>C" "r.(?)" "p.(Arg32Thr)" "3" "0000909509" "00016869" "90" "1097" "0" "1097" "0" "c.1097G>A" "r.(?)" "p.(Cys366Tyr)" "11" "0000909510" "00016869" "90" "1097" "0" "1097" "0" "c.1097G>A" "r.(?)" "p.(Cys366Tyr)" "11" "0000909511" "00016869" "70" "-218" "-197" "283" "-1912" "c.-218-197_283-1912del" "r.0" "p.0" "1i_5i" "0000909512" "00016869" "90" "1074" "0" "1075" "0" "c.1074_1075del" "r.(?)" "p.(Arg358SerfsTer9)" "11" "0000909513" "00016869" "90" "1074" "0" "1075" "0" "c.1074_1075del" "r.(?)" "p.(Arg358SerfsTer9)" "11" "0000909514" "00016869" "50" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Glu125Gly)" "6" "0000909515" "00016869" "70" "1000" "0" "1000" "0" "c.1000dup" "r.(?)" "p.(Tyr334LeufsTer8)" "10" "0000909516" "00016869" "70" "1000" "0" "1000" "0" "c.1000dup" "r.(?)" "p.(Tyr334LeufsTer8)" "10" "0000909517" "00016869" "90" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Arg274Ter)" "9" "0000909518" "00016869" "50" "1711" "0" "1711" "0" "c.1711T>C" "r.(?)" "p.(Cys571Arg)" "17" "0000909519" "00016869" "70" "133" "-1" "391" "1" "c.(132+1_133-1)_(391+1_392-1)del" "r.?" "p.?" "4i_6i" "0000909520" "00016869" "90" "1812" "-2" "1812" "-2" "c.1812-2A>G" "r.spl" "p.?" "17i" "0000909521" "00016869" "70" "" "0" "" "0" "c.-344_*42{0}" "r.?" "p.?" "" "0000909522" "00016869" "90" "1056" "-1" "1056" "-1" "c.1056-1G>T" "r.spl" "p.?" "10i" "0000909523" "00016869" "90" "1324" "-1" "1324" "-1" "c.1324-1G>C" "r.spl" "p.?" "13i" "0000909524" "00016869" "90" "1056" "-1" "1056" "-1" "c.1056-1G>T" "r.spl" "p.?" "10i" "0000909525" "00016869" "90" "1909" "-1" "1909" "-1" "c.1909-1G>A" "r.spl" "p.?" "18i" "0000909526" "00016869" "50" "1915" "0" "1915" "0" "c.1915T>C" "r.(?)" "p.(Cys639Arg)" "19" "0000909527" "00016869" "70" "1000" "0" "1000" "0" "c.1000dup" "r.(?)" "p.(Tyr334LeufsTer8)" "10" "0000909528" "00016869" "70" "1780" "0" "1781" "0" "c.1780_1781del" "r.(?)" "p.(Leu594ValfsTer105)" "17" "0000909529" "00016869" "70" "1780" "0" "1781" "0" "c.1780_1781del" "r.(?)" "p.(Leu594ValfsTer105)" "17" "0000909530" "00016869" "70" "1780" "0" "1781" "0" "c.1780_1781del" "r.(?)" "p.(Leu594ValfsTer105)" "17" "0000909531" "00016869" "50" "1229" "0" "1229" "0" "c.1229A>C" "r.(?)" "p.(Asp410Ala)" "12" "0000909532" "00016869" "70" "1480" "0" "1480" "0" "c.1480T>C" "r.(?)" "p.(Trp494Arg)" "15" "0000909533" "00016869" "70" "1480" "0" "1480" "0" "c.1480T>C" "r.(?)" "p.(Trp494Arg)" "15" "0000909534" "00016869" "90" "1056" "-1" "1056" "-1" "c.1056-1G>T" "r.spl" "p.?" "10i" "0000909535" "00016869" "90" "1056" "-1" "1056" "-1" "c.1056-1G>T" "r.spl" "p.?" "10i" "0000909536" "00016869" "90" "1056" "-1" "1056" "-1" "c.1056-1G>T" "r.spl" "p.?" "10i" "0000909537" "00016869" "90" "1239" "0" "1246" "0" "c.1239_1246dup" "r.(?)" "p.(Val416GlyfsTer27)" "12" "0000909538" "00016869" "90" "1159" "0" "1159" "0" "c.1159A>G" "r.(?)" "p.(Arg387Gly)" "11" "0000909539" "00016869" "50" "893" "0" "893" "0" "c.893C>T" "r.(?)" "p.(Pro298Leu)" "" "0000982000" "00016869" "50" "210" "0" "210" "0" "c.210C>T" "r.(?)" "p.(=)" "" "0000982001" "00016869" "50" "775" "0" "775" "0" "c.775T>C" "r.(?)" "p.(Ser259Pro)" "" "0000982002" "00016869" "30" "928" "-7" "928" "-7" "c.928-7G>A" "r.(=)" "p.(=)" "" "0001015415" "00016869" "50" "1639" "0" "1639" "0" "c.1639G>C" "r.(?)" "p.(Asp547His)" "" "0001015416" "00016869" "50" "1682" "0" "1682" "0" "c.1682C>G" "r.(?)" "p.(Ala561Gly)" "" "0001041267" "00016869" "50" "272" "0" "272" "0" "c.272A>G" "r.(?)" "p.(Tyr91Cys)" "" "0001041268" "00016869" "70" "1056" "-1" "1056" "-1" "c.1056-1G>T" "r.spl?" "p.?" "" "0001041269" "00016869" "50" "1229" "0" "1229" "0" "c.1229A>C" "r.(?)" "p.(Asp410Ala)" "" "0001041270" "00016869" "50" "1576" "-33" "1576" "-33" "c.1576-33G>A" "r.(=)" "p.(=)" "" "0001041271" "00016869" "50" "1682" "0" "1682" "0" "c.1682C>G" "r.(?)" "p.(Ala561Gly)" "" "0001041272" "00016869" "50" "2027" "0" "2027" "0" "c.2027C>G" "r.(?)" "p.(Pro676Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 83 "{{screeningid}}" "{{variantid}}" "0000296912" "0000659561" "0000296912" "0000659562" "0000307385" "0000674008" "0000309108" "0000683571" "0000393114" "0000823729" "0000393114" "0000823730" "0000429830" "0000909463" "0000429831" "0000909464" "0000429832" "0000909465" "0000429833" "0000909466" "0000429834" "0000909467" "0000429834" "0000909514" "0000429835" "0000909468" "0000429835" "0000909515" "0000429836" "0000909469" "0000429836" "0000909516" "0000429837" "0000909470" "0000429838" "0000909471" "0000429839" "0000909472" "0000429839" "0000909517" "0000429840" "0000909473" "0000429840" "0000909518" "0000429841" "0000909474" "0000429842" "0000909475" "0000429842" "0000909519" "0000429843" "0000909476" "0000429844" "0000909477" "0000429844" "0000909520" "0000429845" "0000909478" "0000429845" "0000909521" "0000429846" "0000909479" "0000429847" "0000909480" "0000429848" "0000909481" "0000429848" "0000909522" "0000429849" "0000909482" "0000429850" "0000909483" "0000429851" "0000909484" "0000429852" "0000909485" "0000429852" "0000909523" "0000429853" "0000909486" "0000429853" "0000909524" "0000429854" "0000909487" "0000429855" "0000909488" "0000429856" "0000909489" "0000429857" "0000909490" "0000429857" "0000909525" "0000429858" "0000909491" "0000429858" "0000909526" "0000429859" "0000909492" "0000429859" "0000909539" "0000429860" "0000909493" "0000429860" "0000909527" "0000429861" "0000909494" "0000429861" "0000909528" "0000429862" "0000909495" "0000429862" "0000909529" "0000429863" "0000909496" "0000429863" "0000909530" "0000429864" "0000909497" "0000429865" "0000909498" "0000429865" "0000909531" "0000429866" "0000909499" "0000429867" "0000909500" "0000429868" "0000909501" "0000429869" "0000909502" "0000429869" "0000909532" "0000429870" "0000909503" "0000429870" "0000909533" "0000429871" "0000909504" "0000429871" "0000909534" "0000429872" "0000909505" "0000429872" "0000909535" "0000429873" "0000909506" "0000429873" "0000909536" "0000429874" "0000909507" "0000429874" "0000909537" "0000429875" "0000909508" "0000429875" "0000909538" "0000429876" "0000909509" "0000429877" "0000909510" "0000429878" "0000909511" "0000429879" "0000909512" "0000429880" "0000909513"