### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WDHD1) # 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}}" "WDHD1" "WD repeat and HMG-box DNA binding protein 1" "14" "q22.2" "unknown" "NC_000014.8" "UD_132319787183" "" "https://www.LOVD.nl/WDHD1" "" "1" "23170" "11169" "608126" "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/WDHD1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-05-06 11:44:38" "00006" "2026-05-07 13:55:17" ## 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}}" "00022735" "WDHD1" "transcript variant 1" "002" "NM_007086.3" "" "NP_009017.1" "" "" "" "-90" "5942" "3390" "55493819" "55405656" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00277" "DWFP" "dwarfism, primordial (DWFP)" "" "" "" "" "" "00006" "2013-11-22 16:21:08" "00006" "2015-12-07 07:11:25" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00408885" "" "" "" "1" "" "00000" "{PMID:Wyatt-2008:18781617}" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "1" "00478395" "" "" "" "1" "" "00006" "{PMID:Tibbe 2026:41962535}" "2-generation family, affected fetus (terminated pregnancy), unaffected heterozygous carrier parents" "M" "yes" "" "24wg+5" "0" "" "" "" "Fam1Pat1" "00478396" "" "" "" "2" "" "00006" "{PMID:Tibbe 2026:41962535}" "2-generation family, 2 affected prenatal death fetuses, unaffected heterozygous carrier parents" "M" "yes" "" "22wg+5" "0" "" "" "" "Fam2Pat2" "00478397" "" "" "00478396" "1" "" "00006" "{PMID:Tibbe 2026:41962535}" "sib prenatal death fetus" "F" "yes" "" "26wg+3" "0" "" "" "" "Fam2Pat3" "00478398" "" "" "" "2" "" "00006" "{PMID:Tibbe 2026:41962535}" "2-generation family, affected prenatal death fetus/sister, unaffected heterozygous carrier parents" "M" "" "" "27wg+3" "0" "" "" "" "Fam3Pat4" "00478399" "" "" "00478398" "1" "" "00006" "{PMID:Tibbe 2026:41962535}" "sister" "F" "" "" "35d" "0" "" "" "" "Fam3Pat5" "00478400" "" "" "" "1" "" "00006" "{PMID:Tibbe 2026:41962535}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "" "9d" "0" "" "" "" "Fam4Pat6" "00478401" "" "" "" "1" "" "00006" "{PMID:Tibbe 2026:41962535}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "" "2.5m" "0" "" "" "" "Fam5Pat7" "00478402" "" "" "" "2" "" "00006" "{PMID:Tibbe 2026:41962535}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "yes" "" "2m" "0" "" "" "" "Fam6Pat8" "00478403" "" "" "00478402" "1" "" "00006" "{PMID:Tibbe 2026:41962535}" "sister" "F" "yes" "" "105d" "0" "" "" "" "Fam6Pat9" "00478404" "" "" "" "1" "" "00006" "{PMID:Tibbe 2026:41962535}" "2-generation family, 1 affected, unaffected parents" "M" "yes" "" "2d" "0" "" "" "" "Fam7Pat10" "00478405" "" "" "" "1" "" "00006" "{PMID:Tibbe 2026:41962535}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "" "Fam8Pat11" "00478406" "" "" "" "1" "" "00006" "{PMID:Tibbe 2026:41962535}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "" "Fam9Pat12" "00478407" "" "" "" "1" "" "00006" "{PMID:Tibbe 2026:41962535}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "" "Fam10Pat13" "00478408" "" "" "" "1" "" "00006" "{PMID:Tibbe 2026:41962535}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "" "Fam11Pat14" "00478409" "" "" "" "1" "" "00006" "{PMID:Tibbe 2026:41962535}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam12Pat15" "00478410" "" "" "" "1" "" "00006" "{PMID:Tibbe 2026:41962535}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "" "Fam13Pat16" "00478411" "" "" "" "1" "" "00006" "{PMID:Tibbe 2026:41962535}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "" "Fam14Pat17" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00408885" "04214" "00478395" "00277" "00478396" "00277" "00478397" "00277" "00478398" "00277" "00478399" "00277" "00478400" "00277" "00478401" "00277" "00478402" "00277" "00478403" "00277" "00478404" "00277" "00478405" "00277" "00478406" "00277" "00478407" "00277" "00478408" "00277" "00478409" "00277" "00478410" "00277" "00478411" "00277" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00277, 04214 ## Count = 18 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Growth/Height_SDS}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000301003" "04214" "00408885" "00000" "Unknown" "1y7m" "Extreme Microphthalmia" "" "" "" "" "" "" "" "" "" "" "Congenital anophthalmia and microphthalmia (AM)" "0000362910" "00277" "00478395" "00006" "Familial, autosomal recessive" "<0d" "see paper; ..., 24wg+5 terminated pregnancy; intrauterine growth retardation, decreased fetal movements, borderline oligohydramnios; microcephaly; prenatal ultrasound no brain abnormality found; no anomaly eyes; normal mouth; hypoplastic left heart, abnormal heart morphology; normal endocrine system; ambiguous genitalia, male" "14y" "" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "0000362911" "00277" "00478396" "00006" "Familial, autosomal recessive" "<0d" "see paper; ..., 22wg+5 prenatal death fetus; intrauterine growth retardation, oligohydramnios; microcephaly; brain cavum septum pellucidum, cerebellar hypoplasia, dysplastic corpus callosum, enlarged fetal cisterna magna, small cerebral cortex; microphthalmia; ventricular septal defect; normal digestive system" "16y" "" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "0000362912" "00277" "00478397" "00006" "Familial, autosomal recessive" "<0d" "see paper; ..., 26wg+3 prenatal death fetus; intrauterine growth retardation; microcephaly, clover-leaf skull; brsin abnormal lateral ventricle morphology, cerebral hypoplasia, lissencephaly; wide nose; small apical ventricular septal defect; abnormality gastrointestinal tract; hyperechogenic right kidney; dolichocephaly" "40y" "" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "0000362913" "00277" "00478398" "00006" "Familial, autosomal recessive" "<0d" "see paper; ..., 27wg+3 prenatal death fetus; intrauterine growth retardation, oligohydramnios, abnormal umbilical artery doppler waveform during pregnancy; microcephaly; prenatal MRI brain hypoplasia corpus callosum; ears not opened; microphthalmia, downslanted palpebral fissures, short palpebral fissure, hypertelorism, epicanthus; cleft palate, furrowed tongue; mild retrognathia; hypoplastic heart, abnormal anatomic location heart (left rotated), left ventricular dilatation; hypoplasia thymus; hypoplastic spleen; abnormal intestine morphology (malrotated); hepatic fibrosis, hepatic cysts; enlarged kidneys; sandal gap; 2-3 toe syndactyly (right foot)" "10y" "" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "0000362914" "00277" "00478399" "00006" "Familial, autosomal recessive" "35d" "see paper; ..., 35d-deceased; intrauterine growth retardation, oligohydramnios, abnormal umbilical artery doppler waveform during pregnancy; no microcephaly; birth 33wk5d; generalized hypotonia; ultrasound brain hypoplasia corpus callosum, frontal pachygyria; anomaly face; low-set ears, pointed ear; microphthalmia, down-slanted palpebral fissures, short palpebral fissure, hypertelorism, epicanthus; bulbous nose, wide nose; narrow mouth; mild retrognathia; normal hair morphology; cataract (bilateral), abnormal retinal vascular morphology, microcornea; patent foramen ovale; respiratory insufficiency, highflow support; hyperinsulinemia, congenital hypothyroidism; recurrent infections; abnormal intestine morphology (pathological thickening mucosa), mild ascites, rectal prolapse; decreased liver function, abnormal liver morphology (inhomogeneous), hepatic arterioportal fistulas, hypoplastic, intrahepatic gallbladder; increased circulating lactate concentration, hypoglycemia; vesicoureteral reflux (right), right-sided hydroureter, aplasia uterus; hip dislocation (bilateral); 2-4 toe syndactyly; hypoesthesia" "13y" "" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "0000362915" "00277" "00478400" "00006" "Familial, autosomal recessive" "9d" "see paper; ..., 9d-deceased; intrauterine growth retardation; thickened nuchal skin fold; birth 39wk3d; neonatal hypotonia; brain immature gyration, lateral ventricular asymmetry; low-set ears; deeply set eyes; short chin; patent ductus arteriosus; respiratory insufficiency, highflow support; normal endocrine system; normal digestive system; acute hepatic failure, cirrhosis, elevated hepatic iron concentration, giant cell hepatitis, cholestasis, suspected biliary atresia; normal genitourinary system; normal skeletal morphology" "14y" "" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "0000362916" "00277" "00478401" "00006" "Familial, autosomal recessive" "2.5m" "see paper; ..., 6w-deceased; intrauterine growth retardation; no microcephaly; birth 37wk4d; motpr delay; EEG intermittent flattening brain wave pattern; generalized hypotonia; brain relatively immature gyration, narrow symmetrical ventricular system; anomaly face; no anomaly ears; optic atrophy; minimal pericardial effusion; neonatal respiratory distress, respiratory distress; hyperinsulinemia; anti-herpes simplex antibody positivity, mild leukopenia; ascites; cirrhosis, acute hepatic failure, elevated hepatic iron concentration, giant cell hepatitis, hepatosplenomegaly; hypoglycemia, abnormality of amino acid metabolism, hyperammonemia; normal genitourinary system; skeletal dysplasia; abnormal foot morphology (hook feet); mild thrombocytopenia; short stature" "7y" "" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "0000362917" "00277" "00478402" "00006" "Familial, autosomal recessive" "2m" "see paper; ..., 8w-deceased; intrauterine growth retardation; microcephaly; birth 38wk; seizure; generalized hypotonia; ultrasound brain normal; small face; no anomaly forehead; no anomaly ears; microphthalmia; normal nose; normal mouth; mild retrognathia; cataract, retinal dystrophy, iris malposition; normal heart morphology; respiratory insufficiency (mech. ventilated); normal endocrine system; normal immune system; feeding difficulties, tube feeding; cirrhosis (biopsy), acute hepatic failure, elevated hepatic iron concentration; hypoglycemia; normal genitourinary system; normal skeletal morphology; 2-3 toe syndactyly (left foot)" "2y" "" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "0000362918" "00277" "00478403" "00006" "Familial, autosomal recessive" "105d" "see paper; ..., 15w-deceased; intrauterine growth retardation; microcephaly; birth 35wk1d; seizure; generalized hypotonia; MRI brain abnormal morphology, abnormal myelination, cerebral edema, abnormal cortical gyration (reduced); small face; no anomaly forehead; no anomaly ears; microphthalmia; normal nose; normal mouth; normal chin; retinal dystrophy; normal heart morphology; respiratory insufficiency (mech. ventilated); normal endocrine system; normal immune system; feeding difficulties, tube feeding; cirrhosis (biopsy at 6 wks), acute hepatic failure, elevated hepatic iron concentration; hypoglycemia; normal genitourinary system; normal skeletal morphology; normal limbs" "57y" "" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "0000362919" "00277" "00478404" "00006" "Familial, autosomal recessive" "2d" "see paper; ..., 2d-deceased; intrauterine growth retardation, oligohydramnios, decreased fetal movement; retrognathia, bilateral dilatation orenal pelvis, hyperechogenic kidneys; birth 38wk2d; neonatal hypotonia; abnormal brain morphology; cleft palate; retrognathia; normal hair morphology; abnormal heart morphology; normal liver; ambiguous genitalia, male; short long bones; malposition of feet with external rotation;" "10y" "" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "0000362920" "00277" "00478405" "00006" "Familial, autosomal recessive" "5y11m" "see paper; ..., intrauterine growth retardation, oligohydramnios; limited antenatal care; birth 34wk; mild gross motor delay, fine motor delay; 20m-walk; mild-moderate receptive/expressive speech delay, articulation difficulties; 3y-first words; speaks in short sentences, both Kurdish/German; mild-moderate intellectul disability; normal muscle tone; brain choroid fissure cysts; small face, low posterior hairline; no anomaly forehead; no anomaly ears; short palpebral fissure, long eyelashes; wide nasal bridge; thin vermilion border, carious teeth; pointed chin; hypertrichosis; myopic astigmatism, visual acuity appropriate for age, requires prescription glasses; functionally bicuspid aortic valve, mildly dilated ascending aorta; neonatal respiratory distress; normal endocrine system; recurrent infections; feeding difficulties, tube feeding, right inguinal hernia; abnormal liver morphology, suggested focal hepatic focal nodular hyperplasia, slightly raised liver enzymes, nb resolved on latest scan and blood aged 6 years; very slightly raised ammonia; cryptorchidism; slender long bones, moderate thoracic kyphosis with bullet shaped appearance to thoracic vertebrae but normal interpedicular distances; clinodactyly 5th finger; high pitched voice; dental caries, demineralised teeth" "1y" "" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "0000362921" "00277" "00478406" "00006" "Familial, autosomal recessive" "8y10m" "see paper; ..., intrauterine growth retardation, oligohydramnios; birth 27wk5d; mild gross motor delay; 22m-walk; mild-moderate receptive/expressive speech delay; 2y5m single words; 8y-speaks in short sentences, both Kurdish/German; intellectul disability; no seizure; normal muscle tone; brain lateral ventricular asymmetry, aqueductal stenosis; small face; small forehead; no anomaly ears; microphthalmia (left eye), small upslanted palpebral fissures, synophrys, hypertelorism; bulbous nose; delayed eruption of primary teeth; pointed chin; normal hair morphology; no hearing impairment; exotropia, microcornea, secondary cataract with synechiae, exudative retinal detachment (right); normal heart morphology; normal respiratory system; congenital hypothyroidism; recurrent infections gastrointestinal tract; feeding difficulties, tube feeding, recurrent vomiting, percutaneous endoscopic jejunostomy (pej); intermittently elevated liver enzymes; normal genitourinary system; hip dislocation (bilateral), marked delay in bone age, vertebral fusion (partial c5-c7); normal limbs; high pitched voice" "" "" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "0000362922" "00277" "00478407" "00006" "Familial, autosomal recessive" "10y7m" "see paper; ..., intrauterine growth retardation, oligohydramnios, small placenta; microcephaly, webbed neck, wide intermamillary distance, aplasia/hypoplasia patella; birth 31wk; motor delay; 3y-walk; mild delayed speech development; 2y-first words; normal number of words; mild intellectul disability; generalized hypotonia; MRI brain normal (shortly after birth, not repeated); small face; high forehead; low-set ears; hypertelorism, downslanted palpebral fissures; bulbous nose; high palate; mild retrognathia, pointed chin; normal hair morphology; no hearing impairment; optic atrophy, glaucoma, abnormality fovea; patent foramen ovale; laryngotracheal stenosis; anterior hypopituitarism, hypogonadotropic hypogonadism, growth hormone deficiency, treated with growth hormone since the age of 4 months; feeding difficulties; neonatal hypoglycemia; normal genitourinary system; congenital hip dislocation, abnormality of skeletal maturation, epiphyseal dysplasia; aplasia/hypoplasia patella; high pitched voice" "35y" "" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "0000362923" "00277" "00478408" "00006" "Familial, autosomal recessive" "3y1m" "see paper; ..., intrauterine growth retardation, oligohydramnios, small placenta (281g), abnormal umbilical cord blood vessel morphology; microcephaly; birth 34wk1d; motor delay; 18m-walk; mild delayed speech development; 2y-first words; speaks words, no sentences; intellectul disability, speech receptive, moderate expressive, short attention span; no seizure; normal muscle tone; ultrasound brain normal (after birth); small face; high forehead; no anomaly ears; short palpebral fissures; bulbous tip nose; normal palate, thin upper lip, late dentition (first teeth 16 months); mild retroganthia; normal hair morphology; no hearing impairment; optic atrophy; normal heart morphology; neonatal respiratory distress (surfactant, extubation after 5h, cpap 3 days); low igf1, treated with growth hormone from 21 month; feeding difficulties; normal liver; neonatal hypoglycemia; small genitalia; congenital dislocation of right hip, abnormality of skeletal maturation; small patella; high pitched voice" "3y" "" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "0000362924" "00277" "00478409" "00006" "Familial, autosomal recessive" "11y9m" "see paper; ..., intrauterine growth retardation; microcephaly; birth 39wk; motor delay; delayed speech development; 3y-first words; speaks in short sentences; mild intellectul disability; neonatal hypotonia; MRI brain left temporal lobe cyst; narrow face; high forehead; microphthalmia, deeply set eyes, narrow palpebral fissure, microcornea, strabismus; normal nose; normal mouth; pointed chin; normal hair morphology; stenosis external auditory canal; optic atrophy; neonatal respiratory distress; central hypothyroidism, central adrenal insufficiency, growth hormone deficiency, treated with growth hormone since the age of 3 y; normal immune system; normal digestive system; normal liver; hypoglycemia; bilateral cryptorchidism; hip dislocation (bilateral); normal limbs; high pitched voice; microdontia" "53y" "" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "0000362925" "00277" "00478410" "00006" "Familial, autosomal recessive" "16y9m" "see paper; ..., intrauterine growth retardation; microcephaly; birth 37wk; no motor delay; 14m-walk; no delayed speech development; 10m-first words; completed basic education; no intellectul disability; MRI brain pituitary hypoplasia without other abnormalities; small face; high forehead; no anomaly ears; puffy eyes, myopia; bulbous nose; thin vermilion border, high palate; retrognathia; normal hair morphology; no hearing impairment; no visual impairment; normal heart morphology; normal respiratory system; congenital hypothyroidism, treated with rhgh from 2 to 9 months without effective response (normal gh secretion); normal immune system; normal digestive system; normal liver; normal metabolism/homeostasis; normal genitourinary system; hip dislocation (bilateral); normal limbs; high pitched voice" "5y" "" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "0000362926" "00277" "00478411" "00006" "Familial, autosomal recessive" "9y" "see paper; ..., intrauterine growth retardation; small for gestational age; birth 33wk6d; fine motor delay, gross motor delay; 22m-walk; delayed speech development, articulation difficulties; 15m-first words; speaks in sentences, follows main-stream education; developmental quotient 1st percentile; generalized hypotonia; MRI brain supratentorial white matter signal abnormality most prominently involving frontal lobes/temporal poles; no anomaly face; high forehead; no anomaly ears; hypertelorism, blepharophimosis, strabismus, epicanthus; broad nose; thin vermillion border, carious teeth; pointed chin; sparse hair; no hearing impairment; myopia; normal heart morphology; laryngotracheomalacia; normal endocrine system; normal immune system; normal digestive system; normal liver; normal metabolism/homeostasis; glandular hypospadias, bilateral cryptorchidism, small scrotum, chordee; hip dislocation (bilateral), slender long bones, delayed bone age, possible epiphyseal dysplasia; lower limb asymmetry; high pitched voice" "" "" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000410150" "00408885" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "MLPA;FISH;arrayCGH" "DNA" "" "" "0000480042" "00478395" "1" "00006" "00006" "2026-05-07 13:55:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000480043" "00478396" "1" "00006" "00006" "2026-05-07 13:55:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000480044" "00478397" "1" "00006" "00006" "2026-05-07 13:55:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000480045" "00478398" "1" "00006" "00006" "2026-05-07 13:55:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000480046" "00478399" "1" "00006" "00006" "2026-05-07 13:55:15" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000480047" "00478400" "1" "00006" "00006" "2026-05-07 13:55:15" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000480048" "00478401" "1" "00006" "00006" "2026-05-07 13:55:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000480049" "00478402" "1" "00006" "00006" "2026-05-07 13:55:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000480050" "00478403" "1" "00006" "00006" "2026-05-07 13:55:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000480051" "00478404" "1" "00006" "00006" "2026-05-07 13:55:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000480052" "00478405" "1" "00006" "00006" "2026-05-07 13:55:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000480053" "00478406" "1" "00006" "00006" "2026-05-07 13:55:15" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000480054" "00478407" "1" "00006" "00006" "2026-05-07 13:55:15" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000480055" "00478408" "1" "00006" "00006" "2026-05-07 13:55:15" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000480056" "00478409" "1" "00006" "00006" "2026-05-07 13:55:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000480057" "00478410" "1" "00006" "00006" "2026-05-07 13:55:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000480058" "00478411" "1" "00006" "00006" "2026-05-07 13:55:15" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000410150" "OTX2" ## 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 = 25 "{{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}}" "0000315377" "0" "30" "14" "55429916" "55429916" "del" "0" "02326" "WDHD1_000001" "g.55429916del" "" "" "" "WDHD1(NM_007086.4):c.2311-13delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54963198del" "" "likely benign" "" "0000323692" "0" "30" "14" "55451527" "55451527" "subst" "0.00114457" "01804" "WDHD1_000002" "g.55451527C>G" "" "" "" "WDHD1(NM_001008396.2):c.1451G>C (p.(Gly484Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54984809C>G" "" "likely benign" "" "0000847412" "0" "70" "14" "53758044" "56834649" "del" "0" "00000" "ATG14_000012" "g.53758044_56834649del" "" "" "" "Whole gene deletion" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001076084" "3" "90" "14" "55462357" "55462357" "subst" "0" "00006" "WDHD1_000013" "g.55462357G>A" "" "{PMID:Tibbe 2026:41962535}" "" "" "" "Germline" "" "" "0" "" "" "g.54995639G>A" "" "pathogenic (recessive)" "" "0001076085" "3" "90" "14" "55451579" "55451579" "subst" "0" "00006" "WDHD1_000008" "g.55451579C>G" "" "{PMID:Tibbe 2026:41962535}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54984861C>G" "" "pathogenic (recessive)" "" "0001076086" "3" "90" "14" "55451579" "55451579" "subst" "0" "00006" "WDHD1_000008" "g.55451579C>G" "" "{PMID:Tibbe 2026:41962535}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54984861C>G" "" "pathogenic (recessive)" "" "0001076087" "3" "90" "14" "55451579" "55451579" "subst" "0" "00006" "WDHD1_000008" "g.55451579C>G" "" "{PMID:Tibbe 2026:41962535}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54984861C>G" "" "pathogenic (recessive)" "" "0001076088" "3" "90" "14" "55451579" "55451579" "subst" "0" "00006" "WDHD1_000008" "g.55451579C>G" "" "{PMID:Tibbe 2026:41962535}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54984861C>G" "" "pathogenic (recessive)" "" "0001076089" "3" "90" "14" "55451579" "55451579" "subst" "0" "00006" "WDHD1_000008" "g.55451579C>G" "" "{PMID:Tibbe 2026:41962535}" "" "" "" "Germline" "" "" "0" "" "" "g.54984861C>G" "" "pathogenic (recessive)" "" "0001076090" "3" "90" "14" "55451579" "55451579" "subst" "0" "00006" "WDHD1_000008" "g.55451579C>G" "" "{PMID:Tibbe 2026:41962535}" "" "" "" "Germline" "" "" "0" "" "" "g.54984861C>G" "" "pathogenic (recessive)" "" "0001076091" "3" "90" "14" "55451579" "55451579" "subst" "0" "00006" "WDHD1_000008" "g.55451579C>G" "" "{PMID:Tibbe 2026:41962535}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54984861C>G" "" "pathogenic (recessive)" "" "0001076092" "3" "90" "14" "55451579" "55451579" "subst" "0" "00006" "WDHD1_000008" "g.55451579C>G" "" "{PMID:Tibbe 2026:41962535}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54984861C>G" "" "pathogenic (recessive)" "" "0001076093" "3" "90" "14" "55422358" "55422358" "subst" "0" "00006" "WDHD1_000005" "g.55422358C>A" "" "{PMID:Tibbe 2026:41962535}" "" "" "" "Germline" "" "" "0" "" "" "g.54955640C>A" "" "pathogenic (recessive)" "" "0001076094" "3" "90" "14" "55451579" "55451579" "subst" "0" "00006" "WDHD1_000008" "g.55451579C>G" "" "{PMID:Tibbe 2026:41962535}" "" "" "" "Germline" "" "" "0" "" "" "g.54984861C>G" "" "pathogenic (recessive)" "" "0001076095" "3" "90" "14" "55451579" "55451579" "subst" "0" "00006" "WDHD1_000008" "g.55451579C>G" "" "{PMID:Tibbe 2026:41962535}" "" "" "" "Germline" "" "" "0" "" "" "g.54984861C>G" "" "pathogenic (recessive)" "" "0001076096" "21" "90" "14" "55457925" "55457926" "inv" "0" "00006" "WDHD1_000010" "g.55457925_55457926inv" "" "{PMID:Tibbe 2026:41962535}" "" "" "" "Germline" "" "" "0" "" "" "g.54991207_54991208inv" "" "pathogenic (recessive)" "" "0001076097" "11" "90" "14" "55457925" "55457926" "inv" "0" "00006" "WDHD1_000010" "g.55457925_55457926inv" "" "{PMID:Tibbe 2026:41962535}" "" "" "" "Germline" "" "" "0" "" "" "g.54991207_54991208inv" "" "pathogenic (recessive)" "" "0001076098" "11" "90" "14" "55457986" "55457986" "del" "0" "00006" "WDHD1_000012" "g.55457986del" "" "{PMID:Tibbe 2026:41962535}" "" "" "" "Germline" "" "" "0" "" "" "g.54991268del" "" "pathogenic (recessive)" "" "0001076099" "21" "90" "14" "55429669" "55429669" "subst" "4.07166E-6" "00006" "WDHD1_000006" "g.55429669C>T" "" "{PMID:Tibbe 2026:41962535}" "" "" "" "Germline" "" "" "0" "" "" "g.54962951C>T" "" "pathogenic (recessive)" "" "0001076100" "11" "90" "14" "55455936" "55455936" "subst" "5.76393E-5" "00006" "WDHD1_000009" "g.55455936A>T" "" "{PMID:Tibbe 2026:41962535}" "" "" "" "Germline" "" "" "0" "" "" "g.54989218A>T" "" "pathogenic (recessive)" "" "0001076101" "11" "90" "14" "55408409" "55408409" "subst" "0" "00006" "WDHD1_000003" "g.55408409C>T" "" "{PMID:Tibbe 2026:41962535}" "" "" "" "De novo" "" "" "0" "" "" "g.54941691C>T" "" "pathogenic (recessive)" "" "0001076102" "21" "90" "14" "55411082" "55411082" "subst" "0.000104878" "00006" "WDHD1_000004" "g.55411082G>A" "" "{PMID:Tibbe 2026:41962535}" "" "" "" "Germline" "" "" "0" "" "" "g.54944364G>A" "" "pathogenic (recessive)" "" "0001076103" "21" "90" "14" "55429862" "55429862" "subst" "0" "00006" "WDHD1_000007" "g.55429862C>T" "" "{PMID:Tibbe 2026:41962535}" "" "" "" "Germline" "" "" "0" "" "" "g.54963144C>T" "" "pathogenic (recessive)" "" "0001076104" "11" "90" "14" "55457926" "55457926" "subst" "2.30481E-5" "00006" "WDHD1_000011" "g.55457926C>A" "" "{PMID:Tibbe 2026:41962535}" "" "" "" "Germline" "" "" "0" "" "" "g.54991208C>A" "" "pathogenic (recessive)" "" "0001076105" "21" "90" "14" "55474094" "55474094" "subst" "0" "00006" "WDHD1_000014" "g.55474094C>T" "" "{PMID:Tibbe 2026:41962535}" "" "" "" "Germline" "" "" "0" "" "" "g.55007376C>T" "" "pathogenic (recessive)" "" ## 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 WDHD1 ## Count = 25 "{{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}}" "0000315377" "00022735" "30" "2311" "-13" "2311" "-13" "c.2311-13del" "r.(=)" "p.(=)" "" "0000323692" "00022735" "30" "1820" "0" "1820" "0" "c.1820G>C" "r.(?)" "p.(Gly607Ala)" "" "0000847412" "00022735" "70" "-90" "-1340830" "5942" "1647612" "c.-1340920_*1650164del" "r.0?" "p.0?" "" "0001076084" "00022735" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Ter)" "" "0001076085" "00022735" "90" "1769" "-1" "1769" "-1" "c.1769-1G>C" "r.(1769_1774del)" "p.(Thr591_Gly592del)" "" "0001076086" "00022735" "90" "1769" "-1" "1769" "-1" "c.1769-1G>C" "r.(1769_1774del)" "p.(Thr591_Gly592del)" "" "0001076087" "00022735" "90" "1769" "-1" "1769" "-1" "c.1769-1G>C" "r.(1769_1774del)" "p.(Thr591_Gly592del)" "" "0001076088" "00022735" "90" "1769" "-1" "1769" "-1" "c.1769-1G>C" "r.1769_1774del" "p.Thr591_Gly592del" "" "0001076089" "00022735" "90" "1769" "-1" "1769" "-1" "c.1769-1G>C" "r.1769_1774del" "p.Thr591_Gly592del" "" "0001076090" "00022735" "90" "1769" "-1" "1769" "-1" "c.1769-1G>C" "r.(1769_1774del)" "p.(Thr591_Gly592del)" "" "0001076091" "00022735" "90" "1769" "-1" "1769" "-1" "c.1769-1G>C" "r.(1769_1774del)" "p.(Thr591_Gly592del)" "" "0001076092" "00022735" "90" "1769" "-1" "1769" "-1" "c.1769-1G>C" "r.(1769_1774del)" "p.(Thr591_Gly592del)" "" "0001076093" "00022735" "90" "2971" "0" "2971" "0" "c.2971G>T" "r.[(2971G>T,2970_3050del)]" "p.[(Glu991Ter,Glu991_Arg1017del)]" "" "0001076094" "00022735" "90" "1769" "-1" "1769" "-1" "c.1769-1G>C" "r.1769_1774del" "p.Thr591_Gly592del" "" "0001076095" "00022735" "90" "1769" "-1" "1769" "-1" "c.1769-1G>C" "r.1769_1774del" "p.Thr591_Gly592del" "" "0001076096" "00022735" "90" "1341" "5" "1341" "6" "c.1341+5_1341+6inv" "r.1341_1342ins[GTAATC;1341+7_1341+30]" "p.Val448_Trp449insIleLeuGlySerThrLeuAsnPheLeuVal" "" "0001076097" "00022735" "90" "1341" "5" "1341" "6" "c.1341+5_1341+6inv" "r.1341_1342ins[GTAATC;1341+7_1341+30]" "p.Val448_Trp449insIleLeuGlySerThrLeuAsnPheLeuVal" "" "0001076098" "00022735" "90" "1287" "0" "1287" "0" "c.1287del" "r.(?)" "p.(Gln430LysfsTer37)" "" "0001076099" "00022735" "90" "2531" "1" "2531" "1" "c.2531+1G>A" "r.spl" "p.?" "" "0001076100" "00022735" "90" "1342" "-6" "1342" "-6" "c.1342-6T>A" "r.1342_1526del" "p.Val448GlnfsTer8" "" "0001076101" "00022735" "90" "3190" "-1" "3190" "-1" "c.3190-1G>A" "r.3190del" "p.Val1064CysfsTer41" "" "0001076102" "00022735" "90" "3157" "0" "3157" "0" "c.3157C>T" "r.3157C>T" "p.(Arg1053Ter)" "" "0001076103" "00022735" "90" "2339" "0" "2339" "0" "c.2339G>A" "r.(?)" "p.(Arg780His)" "" "0001076104" "00022735" "90" "1341" "5" "1341" "5" "c.1341+5G>T" "r.spl" "p.?" "" "0001076105" "00022735" "90" "505" "-1" "505" "-1" "c.505-1G>A" "r.505_600del" "p.Thr169_200del" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000410150" "0000847412" "0000480042" "0001076084" "0000480043" "0001076085" "0000480044" "0001076086" "0000480045" "0001076087" "0000480046" "0001076088" "0000480047" "0001076089" "0000480048" "0001076090" "0000480049" "0001076091" "0000480050" "0001076092" "0000480051" "0001076093" "0000480052" "0001076094" "0000480053" "0001076095" "0000480054" "0001076096" "0000480054" "0001076101" "0000480055" "0001076097" "0000480055" "0001076102" "0000480056" "0001076098" "0000480056" "0001076103" "0000480057" "0001076099" "0000480057" "0001076104" "0000480058" "0001076100" "0000480058" "0001076105"