### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = FOCAD)
# 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}}"
"FOCAD"	"focadhesin"	"9"	"p21"	"unknown"	"NC_000009.11"	"UD_136020659756"	""	"https://www.LOVD.nl/FOCAD"	""	"1"	"23377"	"54914"	"614606"	"1"	"1"	"1"	"1"	"Change to MANE NM_001375567.1\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"http://databases.lovd.nl/shared/refseq/FOCAD_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2022-08-19 11:46:39"	"00000"	"2025-11-01 13:22:20"


## 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}}"
"00008052"	"FOCAD"	"focadhesin"	"001"	"NM_017794.3"	""	"NP_060264.3"	""	""	""	"-363"	"5732"	"5406"	"20658309"	"20995954"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00314"	"polyposis"	"polyposis"	""	""	""	""	""	"00006"	"2014-01-27 14:59:09"	""	""
"00433"	"NBIA1"	"neurodegeneration, with brain iron accumulation, type 1 (NBIA)"	"AR"	"234200"	""	""	""	"00006"	"2014-06-24 21:43:21"	"00006"	"2021-12-10 21:51:32"
"04280"	"FAP"	"adenomatous polyposis, familial (FAP)"	""	""	""	""	""	"00006"	"2015-06-06 23:26:41"	""	""
"05464"	"HNPCC (Lynch)"	"cancer, colorectal, nonpolyposis, hereditary (Lynch syndrome)"	""	""	""	""	""	"00006"	"2018-08-02 08:56:34"	"00006"	"2025-07-24 09:00:47"
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"
"06957"	"SCOLIV"	"liver disease, severe congenital"	"AR"	"619991"	""	""	""	"00006"	"2022-08-19 11:45:21"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"FOCAD"	"06957"


## Individuals ## Do not remove or alter this header ##
## Count = 24
"{{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}}"
"00011681"	""	""	""	"1"	""	"00661"	""	"detected possibly causative variant but have not yet sufficient evidence to publish - please contact me"	"F"	""	"Germany"	""	"1"	""	""	""	""
"00016138"	""	""	""	"1"	""	"00661"	""	"detected possibly causative variant but have not yet sufficient evidence to publish - please contact me"	"F"	""	"Germany"	""	"1"	""	""	""	""
"00016276"	""	""	""	"1"	""	"00661"	""	"detected possibly causative variant but have not yet sufficient evidence to publish - please contact me"	"M"	"?"	"Germany"	""	"1"	""	""	""	""
"00017613"	""	""	""	"1"	""	"00705"	"{PMID:Dusi 2014:24360804}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs"	"F"	"yes"	"Italy"	""	"0"	""	""	""	""
"00239032"	""	""	""	"1"	""	"03308"	""	""	"M"	"no"	"Spain"	"69y"	"0"	""	""	"European Non-Finish"	""
"00239142"	""	""	""	"1"	""	"03308"	""	""	"M"	"no"	"Spain"	"71y"	"0"	""	""	"European Non-Finish"	""
"00239143"	""	""	""	"1"	""	"03308"	""	""	"M"	"?"	"Spain"	"67y"	"0"	""	""	""	""
"00239144"	""	""	""	"1"	""	"03308"	""	""	"M"	"no"	"Spain"	"61y"	"0"	""	""	"European Non-Finish"	""
"00301684"	""	""	""	"1"	""	"03308"	""	""	"?"	"?"	"Spain"	">71y"	""	""	""	"Non-finish European"	""
"00301685"	""	""	""	"1"	""	"03308"	""	""	"?"	"?"	"Spain"	"?"	""	""	""	"Non-finish European"	""
"00415966"	""	""	""	"1"	""	"00006"	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	"2 generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	"India"	""	"0"	""	""	""	"Fam1PatII1"
"00415967"	""	""	""	"1"	""	"00006"	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	"2 generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	"France"	""	"0"	""	""	""	"Fam2PatII2"
"00415968"	""	""	""	"1"	""	"00006"	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	"2 generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	"United States"	"7m"	"0"	""	""	""	"Fam3PatII1"
"00415969"	""	""	""	"1"	""	"00006"	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	"2 generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"yes"	"Saudi Arabia"	"3m15d"	"0"	""	""	""	"Fam4PatII1"
"00415970"	""	""	""	"3"	""	"00006"	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	"2 generation family, 3 affected (2F, M), unaffected heterozygous carrier parents"	"F"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"Fam5PatII1"
"00415971"	""	""	"00415970"	"1"	""	"00006"	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	"sister"	"F"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"Fam5PatII2"
"00415972"	""	""	"00415970"	"1"	""	"00006"	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	"brother"	"M"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"Fam5PatII3"
"00415973"	""	""	""	"3"	""	"00006"	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	"2 generation family, 3 affected (3M), unaffected heterozygous carrier parents"	"M"	"yes"	"Saudi Arabia"	"1y"	"0"	""	""	""	"Fam6PatII3"
"00415974"	""	""	"00415973"	"1"	""	"00006"	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	"brother"	"M"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"Fam6PatII4"
"00415975"	""	""	"00415973"	"1"	""	"00006"	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	"nephew"	"M"	"yes"	"Saudi Arabia"	"8m"	"0"	""	""	""	"Fam6PatII6"
"00415976"	""	""	""	"1"	""	"00006"	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	"2 generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"yes"	"Pakistan"	"10y"	"0"	""	""	""	"Fam7PatII3"
"00415977"	""	""	""	"1"	""	"00006"	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	"2 generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"Portugal"	"3m"	"0"	""	""	""	"Fam8PatII3"
"00415978"	""	""	""	"1"	""	"00006"	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	"2 generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"yes"	"Brazil"	""	"0"	""	""	""	"Fam9PatII2"
"00415979"	""	""	""	"1"	""	"00006"	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	"2 generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"yes"	"Brazil"	""	"0"	""	""	""	"Fam10PatII2"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 24
"{{individualid}}"	"{{diseaseid}}"
"00011681"	"00314"
"00016138"	"00314"
"00016276"	"00314"
"00017613"	"00433"
"00239032"	"04280"
"00239142"	"04280"
"00239143"	"04280"
"00239144"	"04280"
"00301684"	"05464"
"00301685"	"05464"
"00415966"	"05611"
"00415967"	"05611"
"00415968"	"05611"
"00415969"	"05611"
"00415970"	"05611"
"00415971"	"05611"
"00415972"	"05611"
"00415973"	"05611"
"00415974"	"05611"
"00415975"	"05611"
"00415976"	"05611"
"00415977"	"05611"
"00415978"	"05611"
"00415979"	"05611"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00314, 00433, 04280, 05464, 05611, 06957
## Count = 23
"{{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/Cysts}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Eye/Retina}}"	"{{Phenotype/Neoplasm}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000014858"	"00314"	"00016138"	"00661"	"Isolated (sporadic)"	"52y"	"colorectal adenomatous polyposis"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000014864"	"00314"	"00011681"	"00661"	"Unknown"	"72y"	"colorectal adenomatous polyposis"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000014866"	"00314"	"00016276"	"00661"	"Isolated (sporadic)"	"12y"	"colorectal adenomatous polyposis"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000053525"	"00433"	"00017613"	"00705"	"Familial, autosomal recessive"	"25y"	"birth weight: 3,850 g; No history of perinatal complications;Normal early\r\ndevelopmental milestones; 24 months: parents reported gait difficulties and persistent toe walking; 6y: poor academic ability;15y: Normal general physical examination; Mild oro-mandibular dystonia with dysarthria; spastic dystonic paraparesis; still able to walk unaided; IQ ¼ 49; 20y:unable to ambulate independently; 25y: severe spastic bradykinetic-rigid syndrome associated with mild dystonia with distal areflexia in the lower limbs"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000179366"	"04280"	"00239032"	"03308"	"Unknown"	""	"HP:0005227"	""	"69y"	""	""	""	""	""	""	""	""	""	""	""	""
"0000179367"	"04280"	"00239142"	"03308"	"Unknown"	""	"HP:0005227\r\nHP:0003003"	""	"71y"	""	""	""	""	""	""	""	""	""	""	""	""
"0000179368"	"04280"	"00239143"	"03308"	"Unknown"	""	"HP:0003003\r\nHP:0005227"	""	"67y"	""	""	""	""	""	""	""	""	""	""	""	""
"0000179369"	"04280"	"00239144"	"03308"	"Unknown"	""	"HP:0005227\r\nHP:0003003"	""	"61y"	""	""	""	""	""	""	""	""	""	""	""	""
"0000228785"	"05464"	"00301684"	"03308"	"Unknown"	""	"1st degree relatives: CRC (55y); CRC (69y); CRC (64y)\r\nNon-carrier: Son, cancer-free, polyps (41y)"	""	""	""	""	"MSS"	""	""	""	""	""	""	""	"CRC (71y)"	""
"0000307737"	"05611"	"00415966"	"00006"	"Familial, autosomal recessive"	"5y"	"no intrauterine growth retardation (-HP:0001511) (3.1kg); hepatomegaly (HP:0002240); cirrhosis  (HP:0001394); no elevated hepatic enzymes; no hypoalbuminemia (-HP:0003073); <20m-splenomegaly (HP:0001744); multinodularity; abnormal hepatic echogenicity (HP:0031142); no intrahepatic cholestasis (-HP:0001406); no jaundice (-HP:0000952); elevated alpha-fetoprotein (HP:0006254); no ascites (-HP:0001541); no biliary hyperplasia (-HP:0006560); portal inflammation (HP:0033196); ballooning hepatocyte degeneration (HP:0033193); no hepatic steatosis (-HP:0001397); no elevated hepatic iron concentration (-HP:0012465); increased hepatic glycogen content (HP:0006568); no hepatic encephalopathy (-HP:0002480); no hepatic failure (-HP:0001399); no abdominal distension (-HP:0003270); diarrhea (HP:0002014); no dependency on parenteral nutrition (-HP:0033994); no feeding difficulties (-HP:0011968); no inguinal hernia (-HP:0000023); no umbilical hernia (-HP:0001537); no vomiting (-HP:0002013); no malnutrition (-HP:0004395); no cow milk allergy (-HP:0100327); no chronic gastritis (-HP:0005231); no gastroesophageal reflux (-HP:0002020); no protein-losing enteropathy (-HP:0002243); no peritonitis (-HP:0002586); no exocrine pancreatic insufficiency (-HP:0001738); no hypoplasia of the pancreas (-HP:0100800); no hyperbilirubinemia (-HP:0002904); no increased circulating ferritin concentration (-HP:0003281); no hyperinsulinemic hypoglycemia (-HP:0000825); no abnormal thyroid hormone levels (-HP:0031508); no metabolic acidosis (-HP:0001942); no hyperammonemia (-HP:0001987); no low levels of vitamin D (-HP:0100512); no low levels of vitamin A (-HP:0004905); no low levels of vitamin E (-HP:0100513); no alpha-aminobutyric aciduria (-HP:0025631); no aminoaciduria (-HP:0003355); hyperalaninemia (HP:0003348); no neonatal hypocalcemia (-HP:0002901); no hyponatremia (-HP:0002902); no hypokalemia (-HP:0002900); no abnormality of coagulation (-HP:0001928); no anemia (-HP:0001903); no thrombocytopenia (-HP:0001873); lymphocytosis (HP:0100827); no agranulocytosis (-HP:0012234); no leukopenia (-HP:0001882); no cough (-HP:0012735); pneumonia (HP:0002090); no pulmonary edema (-HP:0100598); no status asthmaticus (-HP:0012653); no systolic heart murmur (-HP:0031664); no patent foramen ovale (-HP:0001655); no patent ductus arteriosus (-HP:0001643); no dilation of the ventricular cavity (-HP:0006698); no ventricular septal defect (-HP:0001629); no left ventricular dysfunction (-HP:0005162); no atrial septal defect (-HP:0001631); no left atrial enlargement (-HP:0031295); no cardiomegaly (-HP:0001640); no supravalvular aortic stenosis (-HP:0004381); no hydronephrosis (-HP:0000126); no hydrocele testis (-HP:0000034); no hyperechogenic kidneys (-HP:0004719); no recurrent urinary tract infections (-HP:0000010); no hypospadias (-HP:0000047); no epicanthus (-HP:0000286); no depressed nasal bridge (-HP:0005280); no narrow nasal ridge (-HP:0000418); no micrognathia (-HP:0000347); no triangular face (-HP:0000325); no high forehead (-HP:0000348); no plagiocephaly (-HP:0001357); no macrocephaly at birth (-HP:0004488); no proptosis (-HP:0000520); no delayed myelination (-HP:0012448); no MRS reduced brain N-acetyl aspartate level(-HP:0012708); no poor fine motor coordination (-HP:0007010); no nystagmus (-HP:0000639); no neurodevelopmental delay (-HP:0012758); no failure to thrive (-HP:0001508); no joint laxity (-HP:0001388); no sepsis (-HP:0100806); no recurrent fever (-HP:0001954); no recurrent otitis media (-HP:0000403); no cholesteatoma (-HP:0009797); no inappropriate crying (-HP:0030215); no irritability (-HP:0000737); no short attention span (-HP:0000736); no delayed speech and language development (-HP:0000750); no dry hair (-HP:0011359); no nail dystrophy (-HP:0008404); no hypotonia (-HP:0001252); no eczema (-HP:0000964); no dermal translucency (-HP:0010648); no blue nevus (-HP:0100814)"	""	""	""	""	""	""	""	""	""	""	""	"SCOLIV"	"neurodevelopmental delay"	""
"0000307738"	"05611"	"00415967"	"00006"	"Familial, autosomal recessive"	"10y"	"intrauterine growth retardation (HP:0001511) (2.2kg); hepatomegaly (HP:0002240); cirrhosis  (HP:0001394); elevated hepatic enzymes; no hypoalbuminemia (-HP:0003073); no splenomegaly (-HP:0001744); multinodularity; no abnormal hepatic echogenicity (-HP:0031142); no intrahepatic cholestasis (-HP:0001406); no jaundice (-HP:0000952); elevated alpha-fetoprotein (HP:0006254); no ascites (-HP:0001541); no biliary hyperplasia (-HP:0006560); no portal inflammation (-HP:0033196); no ballooning hepatocyte degeneration (-HP:0033193); hepatic steatosis (HP:0001397); no elevated hepatic iron concentration (-HP:0012465); increased hepatic glycogen content (HP:0006568); no hepatic encephalopathy (-HP:0002480); no hepatic failure (-HP:0001399); no abdominal distension (-HP:0003270); diarrhea (HP:0002014); no dependency on parenteral nutrition (-HP:0033994); feeding difficulties (HP:0011968); no inguinal hernia (-HP:0000023); no umbilical hernia (-HP:0001537); vomiting (HP:0002013); no malnutrition (-HP:0004395); cow milk allergy (HP:0100327); no chronic gastritis (-HP:0005231); no gastroesophageal reflux (-HP:0002020); no protein-losing enteropathy (-HP:0002243); no peritonitis (-HP:0002586); no exocrine pancreatic insufficiency (-HP:0001738); no hypoplasia of the pancreas (-HP:0100800); no hyperbilirubinemia (-HP:0002904); increased circulating ferritin concentration (HP:0003281); no hyperinsulinemic hypoglycemia (-HP:0000825); no abnormal thyroid hormone levels (-HP:0031508); no metabolic acidosis (-HP:0001942); no hyperammonemia (-HP:0001987); no low levels of vitamin D (-HP:0100512); no low levels of vitamin A (-HP:0004905); no low levels of vitamin E (-HP:0100513); alpha-aminobutyric aciduria (HP:0025631); no aminoaciduria (-HP:0003355); no hyperalaninemia (-HP:0003348); neonatal hypocalcemia (HP:0002901); no hyponatremia (-HP:0002902); no hypokalemia (-HP:0002900); no abnormality of coagulation (-HP:0001928); no anemia (-HP:0001903); no thrombocytopenia (-HP:0001873); no lymphocytosis (-HP:0100827); transient agranulocytosis (HP:0012234); no leukopenia (-HP:0001882); no cough (-HP:0012735); no pneumonia (-HP:0002090); no pulmonary edema (-HP:0100598); status asthmaticus (HP:0012653); no systolic heart murmur (-HP:0031664); no patent foramen ovale (-HP:0001655); no patent ductus arteriosus (-HP:0001643); no dilation of the ventricular cavity (-HP:0006698); no ventricular septal defect (-HP:0001629); no left ventricular dysfunction (-HP:0005162); no atrial septal defect (-HP:0001631); no left atrial enlargement (-HP:0031295); no cardiomegaly (-HP:0001640); supravalvular aortic stenosis (HP:0004381); no hydronephrosis (-HP:0000126); no hydrocele testis (-HP:0000034); no hyperechogenic kidneys (-HP:0004719); no recurrent urinary tract infections (-HP:0000010); hypospadias (HP:0000047); no epicanthus (-HP:0000286); no depressed nasal bridge (-HP:0005280); no narrow nasal ridge (-HP:0000418); no micrognathia (-HP:0000347); triangular face (HP:0000325); high forehead (HP:0000348); plagiocephaly (HP:0001357); no macrocephaly at birth (-HP:0004488); no proptosis (-HP:0000520); no delayed myelination (-HP:0012448); no MRS reduced brain N-acetyl aspartate level(-HP:0012708); poor fine motor coordination (HP:0007010); no nystagmus (-HP:0000639); no neurodevelopmental delay (-HP:0012758); no failure to thrive (-HP:0001508); joint laxity (HP:0001388); no sepsis (-HP:0100806); no recurrent fever (-HP:0001954); recurrent otitis media (HP:0000403); no cholesteatoma (-HP:0009797); no inappropriate crying (-HP:0030215); no irritability (-HP:0000737); short attention span (HP:0000736); no delayed speech and language development (-HP:0000750); no dry hair (-HP:0011359); no nail dystrophy (-HP:0008404); no hypotonia (-HP:0001252); no eczema (-HP:0000964); no dermal translucency (-HP:0010648); no blue nevus (-HP:0100814)"	""	""	""	""	""	""	""	""	""	""	""	"SCOLIV"	"neurodevelopmental delay"	""
"0000307739"	"05611"	"00415968"	"00006"	"Familial, autosomal recessive"	"7m"	"7m-dies from multi-organ failureno intrauterine growth retardation (-HP:0001511) (2.8kg); no hepatomegaly (-HP:0002240); cirrhosis  (HP:0001394); elevated hepatic enzymes; hypoalbuminemia (HP:0003073); mild splenomegaly (HP:0001744); multinodularity; abnormal hepatic echogenicity (HP:0031142); intrahepatic cholestasis (HP:0001406); jaundice (HP:0000952); elevated alpha-fetoprotein (HP:0006254); ascites (HP:0001541); biliary hyperplasia (HP:0006560); portal inflammation (HP:0033196); ballooning hepatocyte degeneration (HP:0033193); hepatic steatosis (HP:0001397); elevated hepatic iron concentration (HP:0012465); no increased hepatic glycogen content (-HP:0006568); no hepatic encephalopathy (-HP:0002480); hepatic failure (HP:0001399),  liver transplant; abdominal distension (HP:0003270); no diarrhea (-HP:0002014); no dependency on parenteral nutrition (-HP:0033994); no feeding difficulties (-HP:0011968); no inguinal hernia (-HP:0000023); no umbilical hernia (-HP:0001537); no vomiting (-HP:0002013); malnutrition (HP:0004395); cow milk allergy (HP:0100327); no chronic gastritis (-HP:0005231); no gastroesophageal reflux (-HP:0002020); no protein-losing enteropathy (-HP:0002243); peritonitis (HP:0002586); no exocrine pancreatic insufficiency (-HP:0001738); hypoplasia of the pancreas (HP:0100800); hyperbilirubinemia (HP:0002904); increased circulating ferritin concentration (HP:0003281); hyperinsulinemic hypoglycemia (HP:0000825); abnormal thyroid hormone levels (HP:0031508); no metabolic acidosis (-HP:0001942); hyperammonemia (HP:0001987); low levels of vitamin D (HP:0100512); low levels of vitamin A (HP:0004905); low levels of vitamin E (HP:0100513); no alpha-aminobutyric aciduria (-HP:0025631); no aminoaciduria (-HP:0003355); no hyperalaninemia (-HP:0003348); no neonatal hypocalcemia (-HP:0002901); hyponatremia (HP:0002902); no hypokalemia (-HP:0002900); abnormality of coagulation (HP:0001928); no anemia (-HP:0001903); no thrombocytopenia (-HP:0001873); no lymphocytosis (-HP:0100827); no agranulocytosis (-HP:0012234); no leukopenia (-HP:0001882); no cough (-HP:0012735); no pneumonia (-HP:0002090); pulmonary edema (HP:0100598); no status asthmaticus (-HP:0012653); no systolic heart murmur (-HP:0031664); no patent foramen ovale (-HP:0001655); no patent ductus arteriosus (-HP:0001643); no dilation of the ventricular cavity (-HP:0006698); no ventricular septal defect (-HP:0001629); no left ventricular dysfunction (-HP:0005162); no atrial septal defect (-HP:0001631); no left atrial enlargement (-HP:0031295); no cardiomegaly (-HP:0001640); no supravalvular aortic stenosis (-HP:0004381); no hydronephrosis (-HP:0000126); no hydrocele testis (-HP:0000034); no hyperechogenic kidneys (-HP:0004719); no recurrent urinary tract infections (-HP:0000010); no hypospadias (-HP:0000047); no epicanthus (-HP:0000286); no depressed nasal bridge (-HP:0005280); no narrow nasal ridge (-HP:0000418); no micrognathia (-HP:0000347); no triangular face (-HP:0000325); no high forehead (-HP:0000348); no plagiocephaly (-HP:0001357); no macrocephaly at birth (-HP:0004488); no proptosis (-HP:0000520); no delayed myelination (-HP:0012448); no MRS reduced brain N-acetyl aspartate level(-HP:0012708); no poor fine motor coordination (-HP:0007010); no nystagmus (-HP:0000639); no neurodevelopmental delay (-HP:0012758); failure to thrive (HP:0001508); no joint laxity (-HP:0001388); no sepsis (-HP:0100806); recurrent fever (HP:0001954); no recurrent otitis media (-HP:0000403); no cholesteatoma (-HP:0009797); no inappropriate crying (-HP:0030215); irritability (HP:0000737); no short attention span (-HP:0000736); no delayed speech and language development (-HP:0000750); no dry hair (-HP:0011359); no nail dystrophy (-HP:0008404); no hypotonia (-HP:0001252); eczema (HP:0000964); no dermal translucency (-HP:0010648); no blue nevus (-HP:0100814)"	""	""	""	""	""	""	""	""	""	""	""	"SCOLIV"	"neurodevelopmental delay"	""
"0000307740"	"05611"	"00415969"	"00006"	"Familial, autosomal recessive"	"3m15d"	"3m15d-died from respiratory failure, hepatic failure; intrauterine growth retardation (HP:0001511) (1.5kg); no hepatomegaly (-HP:0002240); cirrhosis  (HP:0001394); elevated hepatic enzymes; hypoalbuminemia (HP:0003073); mild splenomegaly (HP:0001744); multinodularity; no abnormal hepatic echogenicity (-HP:0031142); intrahepatic cholestasis (HP:0001406); jaundice (HP:0000952); elevated alpha-fetoprotein (HP:0006254); ascites (HP:0001541); biliary hyperplasia (HP:0006560); portal inflammation (HP:0033196); ballooning hepatocyte degeneration (HP:0033193); no hepatic steatosis (-HP:0001397); elevated hepatic iron concentration (HP:0012465); no increased hepatic glycogen content (-HP:0006568); no hepatic encephalopathy (-HP:0002480); hepatic failure (HP:0001399); abdominal distension (HP:0003270); no diarrhea (-HP:0002014); no dependency on parenteral nutrition (-HP:0033994); no feeding difficulties (-HP:0011968); inguinal hernia (HP:0000023); umbilical hernia (HP:0001537); no vomiting (-HP:0002013); no malnutrition (-HP:0004395); no cow milk allergy (-HP:0100327); no chronic gastritis (-HP:0005231); no gastroesophageal reflux (-HP:0002020); no protein-losing enteropathy (-HP:0002243); no peritonitis (-HP:0002586); no exocrine pancreatic insufficiency (-HP:0001738); no hypoplasia of the pancreas (-HP:0100800); no hyperbilirubinemia (-HP:0002904); increased circulating ferritin concentration (HP:0003281); hyperinsulinemic hypoglycemia (HP:0000825); no abnormal thyroid hormone levels (-HP:0031508); no metabolic acidosis (-HP:0001942); hyperammonemia (HP:0001987); no low levels of vitamin D (-HP:0100512); no low levels of vitamin A (-HP:0004905); no low levels of vitamin E (-HP:0100513); no alpha-aminobutyric aciduria (-HP:0025631); no aminoaciduria (-HP:0003355); no hyperalaninemia (-HP:0003348); no neonatal hypocalcemia (-HP:0002901); no hyponatremia (-HP:0002902); no hypokalemia (-HP:0002900); abnormality of coagulation (HP:0001928); no anemia (-HP:0001903); no thrombocytopenia (-HP:0001873); no lymphocytosis (-HP:0100827); no agranulocytosis (-HP:0012234); no leukopenia (-HP:0001882); no cough (-HP:0012735); no pneumonia (-HP:0002090); pulmonary edema (HP:0100598); no status asthmaticus (-HP:0012653); no systolic heart murmur (-HP:0031664); no patent foramen ovale (-HP:0001655); no patent ductus arteriosus (-HP:0001643); dilation of the ventricular cavity (HP:0006698); no ventricular septal defect (-HP:0001629); left ventricular dysfunction (HP:0005162); no atrial septal defect (-HP:0001631); left atrial enlargement (HP:0031295); cardiomegaly (HP:0001640); no supravalvular aortic stenosis (-HP:0004381); hydronephrosis (HP:0000126); no hydrocele testis (-HP:0000034); hyperechogenic kidneys (HP:0004719); no recurrent urinary tract infections (-HP:0000010); no hypospadias (-HP:0000047); no epicanthus (-HP:0000286); no depressed nasal bridge (-HP:0005280); no narrow nasal ridge (-HP:0000418); no micrognathia (-HP:0000347); no triangular face (-HP:0000325); no high forehead (-HP:0000348); no plagiocephaly (-HP:0001357); no macrocephaly at birth (-HP:0004488); no proptosis (-HP:0000520); mild delayed myelination (HP:0012448); MRS reduced brain N-acetyl aspartate level(HP:0012708); no poor fine motor coordination (-HP:0007010); no nystagmus (-HP:0000639); no neurodevelopmental delay (-HP:0012758); failure to thrive (HP:0001508); no joint laxity (-HP:0001388); no sepsis (-HP:0100806); no recurrent fever (-HP:0001954); no recurrent otitis media (-HP:0000403); no cholesteatoma (-HP:0009797); no inappropriate crying (-HP:0030215); no irritability (-HP:0000737); no short attention span (-HP:0000736); no delayed speech and language development (-HP:0000750); no dry hair (-HP:0011359); no nail dystrophy (-HP:0008404); no hypotonia (-HP:0001252); no eczema (-HP:0000964); no dermal translucency (-HP:0010648); blue nevus (HP:0100814)"	""	""	""	""	""	""	""	""	""	""	""	"SCOLIV"	"neurodevelopmental delay"	""
"0000307741"	"05611"	"00415970"	"00006"	"Familial, autosomal recessive"	"4y"	"intrauterine growth retardation (HP:0001511) (1.6kg); hepatomegaly (HP:0002240); cirrhosis  (HP:0001394); no elevated hepatic enzymes; no hypoalbuminemia (-HP:0003073); <y6m-splenomegaly (HP:0001744); multinodularity; no abnormal hepatic echogenicity (-HP:0031142); no intrahepatic cholestasis (-HP:0001406); no jaundice (-HP:0000952); no elevated alpha-fetoprotein (-HP:0006254); no ascites (-HP:0001541); biliary hyperplasia (HP:0006560); no portal inflammation (-HP:0033196); no ballooning hepatocyte degeneration (-HP:0033193); no hepatic steatosis (-HP:0001397); no elevated hepatic iron concentration (-HP:0012465); no increased hepatic glycogen content (-HP:0006568); no hepatic encephalopathy (-HP:0002480); no hepatic failure (-HP:0001399); abdominal distension (HP:0003270); diarrhea (HP:0002014); no dependency on parenteral nutrition (-HP:0033994); feeding difficulties (HP:0011968); inguinal hernia (HP:0000023); no umbilical hernia (-HP:0001537); no vomiting (-HP:0002013); no malnutrition (-HP:0004395); no cow milk allergy (-HP:0100327); no chronic gastritis (-HP:0005231); gastroesophageal reflux (HP:0002020); no protein-losing enteropathy (-HP:0002243); no peritonitis (-HP:0002586); no exocrine pancreatic insufficiency (-HP:0001738); no hypoplasia of the pancreas (-HP:0100800); no hyperbilirubinemia (-HP:0002904); no increased circulating ferritin concentration (-HP:0003281); no hyperinsulinemic hypoglycemia (-HP:0000825); no abnormal thyroid hormone levels (-HP:0031508); no metabolic acidosis (-HP:0001942); no hyperammonemia (-HP:0001987); no low levels of vitamin D (-HP:0100512); no low levels of vitamin A (-HP:0004905); no low levels of vitamin E (-HP:0100513); no alpha-aminobutyric aciduria (-HP:0025631); no aminoaciduria (-HP:0003355); no hyperalaninemia (-HP:0003348); no neonatal hypocalcemia (-HP:0002901); no hyponatremia (-HP:0002902); no hypokalemia (-HP:0002900); no abnormality of coagulation (-HP:0001928); no anemia (-HP:0001903); no thrombocytopenia (-HP:0001873); no lymphocytosis (-HP:0100827); no agranulocytosis (-HP:0012234); no leukopenia (-HP:0001882); cough (HP:0012735); no pneumonia (-HP:0002090); no pulmonary edema (-HP:0100598); no status asthmaticus (-HP:0012653); no systolic heart murmur (-HP:0031664); no patent foramen ovale (-HP:0001655); no patent ductus arteriosus (-HP:0001643); no dilation of the ventricular cavity (-HP:0006698); no ventricular septal defect (-HP:0001629); no left ventricular dysfunction (-HP:0005162); no atrial septal defect (-HP:0001631); no left atrial enlargement (-HP:0031295); no cardiomegaly (-HP:0001640); no supravalvular aortic stenosis (-HP:0004381); no hydronephrosis (-HP:0000126); no hydrocele testis (-HP:0000034); no hyperechogenic kidneys (-HP:0004719); no recurrent urinary tract infections (-HP:0000010); no hypospadias (-HP:0000047); epicanthus (HP:0000286); no depressed nasal bridge (-HP:0005280); no narrow nasal ridge (-HP:0000418); micrognathia (HP:0000347); no triangular face (-HP:0000325); no high forehead (-HP:0000348); no plagiocephaly (-HP:0001357); no macrocephaly at birth (-HP:0004488); no proptosis (-HP:0000520); no delayed myelination (-HP:0012448); no MRS reduced brain N-acetyl aspartate level(-HP:0012708); no poor fine motor coordination (-HP:0007010); no nystagmus (-HP:0000639); no neurodevelopmental delay (-HP:0012758); failure to thrive (HP:0001508); joint laxity (HP:0001388); no sepsis (-HP:0100806); no recurrent fever (-HP:0001954); no recurrent otitis media (-HP:0000403); no cholesteatoma (-HP:0009797); inappropriate crying (HP:0030215); no irritability (-HP:0000737); no short attention span (-HP:0000736); no delayed speech and language development (-HP:0000750); dry hair (HP:0011359); no nail dystrophy (-HP:0008404); no hypotonia (-HP:0001252); no eczema (-HP:0000964); no dermal translucency (-HP:0010648); no blue nevus (-HP:0100814)"	""	""	""	""	""	""	""	""	""	""	""	"SCOLIV"	"neurodevelopmental delay"	""
"0000307742"	"05611"	"00415971"	"00006"	"Familial, autosomal recessive"	"1y"	"no intrauterine growth retardation (-HP:0001511) (1kg); hepatomegaly (HP:0002240); no cirrhosis  (-HP:0001394); no elevated hepatic enzymes; hypoalbuminemia (HP:0003073); no splenomegaly (-HP:0001744); no multinodularity; no abnormal hepatic echogenicity (-HP:0031142); no intrahepatic cholestasis (-HP:0001406); no jaundice (-HP:0000952); no elevated alpha-fetoprotein (-HP:0006254); no ascites (-HP:0001541); no biliary hyperplasia (-HP:0006560); no portal inflammation (-HP:0033196); no ballooning hepatocyte degeneration (-HP:0033193); no hepatic steatosis (-HP:0001397); no elevated hepatic iron concentration (-HP:0012465); no increased hepatic glycogen content (-HP:0006568); no hepatic encephalopathy (-HP:0002480); no hepatic failure (-HP:0001399); abdominal distension (HP:0003270); diarrhea (HP:0002014); no dependency on parenteral nutrition (-HP:0033994); feeding difficulties (HP:0011968); no inguinal hernia (-HP:0000023); umbilical hernia (HP:0001537); no vomiting (-HP:0002013); no malnutrition (-HP:0004395); no cow milk allergy (-HP:0100327); no chronic gastritis (-HP:0005231); no gastroesophageal reflux (-HP:0002020); no protein-losing enteropathy (-HP:0002243); no peritonitis (-HP:0002586); no exocrine pancreatic insufficiency (-HP:0001738); no hypoplasia of the pancreas (-HP:0100800); no hyperbilirubinemia (-HP:0002904); no increased circulating ferritin concentration (-HP:0003281); no hyperinsulinemic hypoglycemia (-HP:0000825); no abnormal thyroid hormone levels (-HP:0031508); no metabolic acidosis (-HP:0001942); no hyperammonemia (-HP:0001987); no low levels of vitamin D (-HP:0100512); no low levels of vitamin A (-HP:0004905); no low levels of vitamin E (-HP:0100513); no alpha-aminobutyric aciduria (-HP:0025631); no aminoaciduria (-HP:0003355); no hyperalaninemia (-HP:0003348); no neonatal hypocalcemia (-HP:0002901); no hyponatremia (-HP:0002902); no hypokalemia (-HP:0002900); no abnormality of coagulation (-HP:0001928); no anemia (-HP:0001903); no thrombocytopenia (-HP:0001873); no lymphocytosis (-HP:0100827); no agranulocytosis (-HP:0012234); no leukopenia (-HP:0001882); cough (HP:0012735); no pneumonia (-HP:0002090); no pulmonary edema (-HP:0100598); no status asthmaticus (-HP:0012653); systolic heart murmur (HP:0031664); patent foramen ovale (HP:0001655); patent ductus arteriosus (HP:0001643); no dilation of the ventricular cavity (-HP:0006698); ventricular septal defect (HP:0001629); no left ventricular dysfunction (-HP:0005162); no atrial septal defect (-HP:0001631); no left atrial enlargement (-HP:0031295); no cardiomegaly (-HP:0001640); no supravalvular aortic stenosis (-HP:0004381); no hydronephrosis (-HP:0000126); no hydrocele testis (-HP:0000034); no hyperechogenic kidneys (-HP:0004719); recurrent urinary tract infections (HP:0000010); no hypospadias (-HP:0000047); epicanthus (HP:0000286); depressed nasal bridge (HP:0005280); no narrow nasal ridge (-HP:0000418); micrognathia (HP:0000347); no triangular face (-HP:0000325); no high forehead (-HP:0000348); no plagiocephaly (-HP:0001357); no macrocephaly at birth (-HP:0004488); no proptosis (-HP:0000520); no delayed myelination (-HP:0012448); no MRS reduced brain N-acetyl aspartate level(-HP:0012708); no poor fine motor coordination (-HP:0007010); no nystagmus (-HP:0000639); no neurodevelopmental delay (-HP:0012758); no failure to thrive (-HP:0001508); no joint laxity (-HP:0001388); no sepsis (-HP:0100806); no recurrent fever (-HP:0001954); recurrent otitis media (HP:0000403); cholesteatoma (HP:0009797); no inappropriate crying (-HP:0030215); no irritability (-HP:0000737); no short attention span (-HP:0000736); no delayed speech and language development (-HP:0000750); no dry hair (-HP:0011359); no nail dystrophy (-HP:0008404); no hypotonia (-HP:0001252); no eczema (-HP:0000964); no dermal translucency (-HP:0010648); no blue nevus (-HP:0100814)"	""	""	""	""	""	""	""	""	""	""	""	"SCOLIV"	"neurodevelopmental delay"	""
"0000307743"	"05611"	"00415972"	"00006"	"Familial, autosomal recessive"	"2y"	"intrauterine growth retardation (HP:0001511) (1.6kg); no hepatomegaly (-HP:0002240); no cirrhosis  (-HP:0001394); elevated hepatic enzymes; hypoalbuminemia (HP:0003073); no splenomegaly (-HP:0001744); no multinodularity; no abnormal hepatic echogenicity (-HP:0031142); no intrahepatic cholestasis (-HP:0001406); no jaundice (-HP:0000952); no elevated alpha-fetoprotein (-HP:0006254); no ascites (-HP:0001541); no biliary hyperplasia (-HP:0006560); no portal inflammation (-HP:0033196); no ballooning hepatocyte degeneration (-HP:0033193); no hepatic steatosis (-HP:0001397); no elevated hepatic iron concentration (-HP:0012465); no increased hepatic glycogen content (-HP:0006568); no hepatic encephalopathy (-HP:0002480); no hepatic failure (-HP:0001399); abdominal distension (HP:0003270); diarrhea (HP:0002014); no dependency on parenteral nutrition (-HP:0033994); no feeding difficulties (-HP:0011968); inguinal hernia (HP:0000023); umbilical hernia (HP:0001537); no vomiting (-HP:0002013); no malnutrition (-HP:0004395); no cow milk allergy (-HP:0100327); no chronic gastritis (-HP:0005231); no gastroesophageal reflux (-HP:0002020); no protein-losing enteropathy (-HP:0002243); no peritonitis (-HP:0002586); no exocrine pancreatic insufficiency (-HP:0001738); no hypoplasia of the pancreas (-HP:0100800); no hyperbilirubinemia (-HP:0002904); no increased circulating ferritin concentration (-HP:0003281); no hyperinsulinemic hypoglycemia (-HP:0000825); transient abnormal thyroid hormone levels (HP:0031508); no metabolic acidosis (-HP:0001942); no hyperammonemia (-HP:0001987); no low levels of vitamin D (-HP:0100512); no low levels of vitamin A (-HP:0004905); no low levels of vitamin E (-HP:0100513); no alpha-aminobutyric aciduria (-HP:0025631); no aminoaciduria (-HP:0003355); no hyperalaninemia (-HP:0003348); no neonatal hypocalcemia (-HP:0002901); no hyponatremia (-HP:0002902); no hypokalemia (-HP:0002900); no abnormality of coagulation (-HP:0001928); no anemia (-HP:0001903); no thrombocytopenia (-HP:0001873); no lymphocytosis (-HP:0100827); no agranulocytosis (-HP:0012234); no leukopenia (-HP:0001882); no cough (-HP:0012735); no pneumonia (-HP:0002090); no pulmonary edema (-HP:0100598); no status asthmaticus (-HP:0012653); no systolic heart murmur (-HP:0031664); no patent foramen ovale (-HP:0001655); no patent ductus arteriosus (-HP:0001643); no dilation of the ventricular cavity (-HP:0006698); no ventricular septal defect (-HP:0001629); no left ventricular dysfunction (-HP:0005162); no atrial septal defect (-HP:0001631); no left atrial enlargement (-HP:0031295); no cardiomegaly (-HP:0001640); no supravalvular aortic stenosis (-HP:0004381); no hydronephrosis (-HP:0000126); hydrocele testis (HP:0000034); no hyperechogenic kidneys (-HP:0004719); no recurrent urinary tract infections (-HP:0000010); no hypospadias (-HP:0000047); no epicanthus (-HP:0000286); no depressed nasal bridge (-HP:0005280); no narrow nasal ridge (-HP:0000418); no micrognathia (-HP:0000347); no triangular face (-HP:0000325); no high forehead (-HP:0000348); no plagiocephaly (-HP:0001357); no macrocephaly at birth (-HP:0004488); no proptosis (-HP:0000520); no delayed myelination (-HP:0012448); no MRS reduced brain N-acetyl aspartate level(-HP:0012708); no poor fine motor coordination (-HP:0007010); no nystagmus (-HP:0000639); no neurodevelopmental delay (-HP:0012758); failure to thrive (HP:0001508); no joint laxity (-HP:0001388); no sepsis (-HP:0100806); no recurrent fever (-HP:0001954); no recurrent otitis media (-HP:0000403); no cholesteatoma (-HP:0009797); no inappropriate crying (-HP:0030215); no irritability (-HP:0000737); no short attention span (-HP:0000736); delayed speech and language development (HP:0000750); no dry hair (-HP:0011359); no nail dystrophy (-HP:0008404); no hypotonia (-HP:0001252); no eczema (-HP:0000964); no dermal translucency (-HP:0010648); no blue nevus (-HP:0100814)"	""	""	""	""	""	""	""	""	""	""	""	"SCOLIV"	"neurodevelopmental delay"	""
"0000307744"	"05611"	"00415973"	"00006"	"Familial, autosomal recessive"	"1y"	"1y-died from multi-organ failure, sepsis; intrauterine growth retardation (HP:0001511) (1.4kg); hepatomegaly (HP:0002240); no cirrhosis  (-HP:0001394); no elevated hepatic enzymes; hypoalbuminemia (HP:0003073); no splenomegaly (-HP:0001744); no multinodularity; abnormal hepatic echogenicity (HP:0031142); no intrahepatic cholestasis (-HP:0001406); no jaundice (-HP:0000952); no elevated alpha-fetoprotein (-HP:0006254); no ascites (-HP:0001541); no biliary hyperplasia (-HP:0006560); no portal inflammation (-HP:0033196); no ballooning hepatocyte degeneration (-HP:0033193); no hepatic steatosis (-HP:0001397); no elevated hepatic iron concentration (-HP:0012465); no increased hepatic glycogen content (-HP:0006568); no hepatic encephalopathy (-HP:0002480); hepatic failure (HP:0001399); abdominal distension (HP:0003270); diarrhea (HP:0002014); dependency on parenteral nutrition (HP:0033994); no feeding difficulties (-HP:0011968); no inguinal hernia (-HP:0000023); no umbilical hernia (-HP:0001537); vomiting (HP:0002013); no malnutrition (-HP:0004395); no cow milk allergy (-HP:0100327); mild chronic gastritis (HP:0005231); no gastroesophageal reflux (-HP:0002020); no protein-losing enteropathy (-HP:0002243); no peritonitis (-HP:0002586); no exocrine pancreatic insufficiency (-HP:0001738); no hypoplasia of the pancreas (-HP:0100800); no hyperbilirubinemia (-HP:0002904); no increased circulating ferritin concentration (-HP:0003281); hyperinsulinemic hypoglycemia (HP:0000825); no abnormal thyroid hormone levels (-HP:0031508); metabolic acidosis (HP:0001942); no hyperammonemia (-HP:0001987); no low levels of vitamin D (-HP:0100512); no low levels of vitamin A (-HP:0004905); no low levels of vitamin E (-HP:0100513); no alpha-aminobutyric aciduria (-HP:0025631); aminoaciduria (HP:0003355); no hyperalaninemia (-HP:0003348); no neonatal hypocalcemia (-HP:0002901); no hyponatremia (-HP:0002902); no hypokalemia (-HP:0002900); no abnormality of coagulation (-HP:0001928); anemia (HP:0001903); mild thrombocytopenia (HP:0001873); no lymphocytosis (-HP:0100827); no agranulocytosis (-HP:0012234); no leukopenia (-HP:0001882); no cough (-HP:0012735); no pneumonia (-HP:0002090); no pulmonary edema (-HP:0100598); no status asthmaticus (-HP:0012653); no systolic heart murmur (-HP:0031664); no patent foramen ovale (-HP:0001655); no patent ductus arteriosus (-HP:0001643); no dilation of the ventricular cavity (-HP:0006698); no ventricular septal defect (-HP:0001629); no left ventricular dysfunction (-HP:0005162); no atrial septal defect (-HP:0001631); no left atrial enlargement (-HP:0031295); no cardiomegaly (-HP:0001640); no supravalvular aortic stenosis (-HP:0004381); no hydronephrosis (-HP:0000126); no hydrocele testis (-HP:0000034); no hyperechogenic kidneys (-HP:0004719); no recurrent urinary tract infections (-HP:0000010); no hypospadias (-HP:0000047); no epicanthus (-HP:0000286); no depressed nasal bridge (-HP:0005280); no narrow nasal ridge (-HP:0000418); no micrognathia (-HP:0000347); no triangular face (-HP:0000325); no high forehead (-HP:0000348); no plagiocephaly (-HP:0001357); no macrocephaly at birth (-HP:0004488); no proptosis (-HP:0000520); no delayed myelination (-HP:0012448); no MRS reduced brain N-acetyl aspartate level(-HP:0012708); no poor fine motor coordination (-HP:0007010); no nystagmus (-HP:0000639); no neurodevelopmental delay (-HP:0012758); failure to thrive (HP:0001508); no joint laxity (-HP:0001388); sepsis (HP:0100806); no recurrent fever (-HP:0001954); no recurrent otitis media (-HP:0000403); no cholesteatoma (-HP:0009797); no inappropriate crying (-HP:0030215); no irritability (-HP:0000737); no short attention span (-HP:0000736); no delayed speech and language development (-HP:0000750); no dry hair (-HP:0011359); no nail dystrophy (-HP:0008404); no hypotonia (-HP:0001252); no eczema (-HP:0000964); no dermal translucency (-HP:0010648); no blue nevus (-HP:0100814)"	""	""	""	""	""	""	""	""	""	""	""	"SCOLIV"	"neurodevelopmental delay"	""
"0000307745"	"05611"	"00415974"	"00006"	"Familial, autosomal recessive"	"2y"	"intrauterine growth retardation (HP:0001511) (1.6kg); no hepatomegaly (-HP:0002240); no cirrhosis  (-HP:0001394); elevated hepatic enzymes; hypoalbuminemia (HP:0003073); splenomegaly (HP:0001744); multinodularity; abnormal hepatic echogenicity (HP:0031142); no intrahepatic cholestasis (-HP:0001406); no jaundice (-HP:0000952); no elevated alpha-fetoprotein (-HP:0006254); ascites (HP:0001541); no biliary hyperplasia (-HP:0006560); no portal inflammation (-HP:0033196); no ballooning hepatocyte degeneration (-HP:0033193); no hepatic steatosis (-HP:0001397); no elevated hepatic iron concentration (-HP:0012465); no increased hepatic glycogen content (-HP:0006568); no hepatic encephalopathy (-HP:0002480); no hepatic failure (-HP:0001399); abdominal distension (HP:0003270); diarrhea (HP:0002014); no dependency on parenteral nutrition (-HP:0033994); no feeding difficulties (-HP:0011968); no inguinal hernia (-HP:0000023); no umbilical hernia (-HP:0001537); no vomiting (-HP:0002013); no malnutrition (-HP:0004395); no cow milk allergy (-HP:0100327); no chronic gastritis (-HP:0005231); no gastroesophageal reflux (-HP:0002020); no protein-losing enteropathy (-HP:0002243); no peritonitis (-HP:0002586); no exocrine pancreatic insufficiency (-HP:0001738); no hypoplasia of the pancreas (-HP:0100800); hyperbilirubinemia (HP:0002904); no increased circulating ferritin concentration (-HP:0003281); no hyperinsulinemic hypoglycemia (-HP:0000825); no abnormal thyroid hormone levels (-HP:0031508); metabolic acidosis (HP:0001942); no hyperammonemia (-HP:0001987); no low levels of vitamin D (-HP:0100512); no low levels of vitamin A (-HP:0004905); no low levels of vitamin E (-HP:0100513); no alpha-aminobutyric aciduria (-HP:0025631); no aminoaciduria (-HP:0003355); no hyperalaninemia (-HP:0003348); no neonatal hypocalcemia (-HP:0002901); no hyponatremia (-HP:0002902); hypokalemia (HP:0002900); abnormality of coagulation (HP:0001928); anemia (HP:0001903); no thrombocytopenia (-HP:0001873); no lymphocytosis (-HP:0100827); no agranulocytosis (-HP:0012234); no leukopenia (-HP:0001882); no cough (-HP:0012735); no pneumonia (-HP:0002090); no pulmonary edema (-HP:0100598); no status asthmaticus (-HP:0012653); no systolic heart murmur (-HP:0031664); no patent foramen ovale (-HP:0001655); no patent ductus arteriosus (-HP:0001643); no dilation of the ventricular cavity (-HP:0006698); no ventricular septal defect (-HP:0001629); no left ventricular dysfunction (-HP:0005162); no atrial septal defect (-HP:0001631); no left atrial enlargement (-HP:0031295); no cardiomegaly (-HP:0001640); no supravalvular aortic stenosis (-HP:0004381); no hydronephrosis (-HP:0000126); no hydrocele testis (-HP:0000034); no hyperechogenic kidneys (-HP:0004719); no recurrent urinary tract infections (-HP:0000010); no hypospadias (-HP:0000047); no epicanthus (-HP:0000286); no depressed nasal bridge (-HP:0005280); no narrow nasal ridge (-HP:0000418); no micrognathia (-HP:0000347); no triangular face (-HP:0000325); no high forehead (-HP:0000348); no plagiocephaly (-HP:0001357); no macrocephaly at birth (-HP:0004488); no proptosis (-HP:0000520); no delayed myelination (-HP:0012448); no MRS reduced brain N-acetyl aspartate level(-HP:0012708); no poor fine motor coordination (-HP:0007010); no nystagmus (-HP:0000639); no neurodevelopmental delay (-HP:0012758); failure to thrive (HP:0001508); no joint laxity (-HP:0001388); no sepsis (-HP:0100806); no recurrent fever (-HP:0001954); no recurrent otitis media (-HP:0000403); no cholesteatoma (-HP:0009797); no inappropriate crying (-HP:0030215); no irritability (-HP:0000737); no short attention span (-HP:0000736); no delayed speech and language development (-HP:0000750); no dry hair (-HP:0011359); no nail dystrophy (-HP:0008404); no hypotonia (-HP:0001252); no eczema (-HP:0000964); no dermal translucency (-HP:0010648); no blue nevus (-HP:0100814)"	""	""	""	""	""	""	""	""	""	""	""	"SCOLIV"	"neurodevelopmental delay"	""
"0000307746"	"05611"	"00415975"	"00006"	"Familial, autosomal recessive"	"8m"	"8m-died from multi-organ failure, sepsis; intrauterine growth retardation (HP:0001511) (1.6kg); hepatomegaly (HP:0002240); no cirrhosis  (-HP:0001394); elevated hepatic enzymes; hypoalbuminemia (HP:0003073); mild splenomegaly (HP:0001744); no multinodularity; no abnormal hepatic echogenicity (-HP:0031142); no intrahepatic cholestasis (-HP:0001406); no jaundice (-HP:0000952); no elevated alpha-fetoprotein (-HP:0006254); no ascites (-HP:0001541); no biliary hyperplasia (-HP:0006560); no portal inflammation (-HP:0033196); no ballooning hepatocyte degeneration (-HP:0033193); no hepatic steatosis (-HP:0001397); no elevated hepatic iron concentration (-HP:0012465); no increased hepatic glycogen content (-HP:0006568); no hepatic encephalopathy (-HP:0002480); hepatic failure (HP:0001399); abdominal distension (HP:0003270); diarrhea (HP:0002014); no dependency on parenteral nutrition (-HP:0033994); feeding difficulties (HP:0011968); no inguinal hernia (-HP:0000023); no umbilical hernia (-HP:0001537); no vomiting (-HP:0002013); no malnutrition (-HP:0004395); no cow milk allergy (-HP:0100327); no chronic gastritis (-HP:0005231); no gastroesophageal reflux (-HP:0002020); protein-losing enteropathy (HP:0002243); no peritonitis (-HP:0002586); no exocrine pancreatic insufficiency (-HP:0001738); no hypoplasia of the pancreas (-HP:0100800); hyperbilirubinemia (HP:0002904); increased circulating ferritin concentration (HP:0003281); no hyperinsulinemic hypoglycemia (-HP:0000825); no abnormal thyroid hormone levels (-HP:0031508); metabolic acidosis (HP:0001942); no hyperammonemia (-HP:0001987); no low levels of vitamin D (-HP:0100512); no low levels of vitamin A (-HP:0004905); no low levels of vitamin E (-HP:0100513); no alpha-aminobutyric aciduria (-HP:0025631); no aminoaciduria (-HP:0003355); no hyperalaninemia (-HP:0003348); no neonatal hypocalcemia (-HP:0002901); no hyponatremia (-HP:0002902); no hypokalemia (-HP:0002900); abnormality of coagulation (HP:0001928); anemia (HP:0001903); no thrombocytopenia (-HP:0001873); no lymphocytosis (-HP:0100827); no agranulocytosis (-HP:0012234); no leukopenia (-HP:0001882); no cough (-HP:0012735); no pneumonia (-HP:0002090); no pulmonary edema (-HP:0100598); no status asthmaticus (-HP:0012653); no systolic heart murmur (-HP:0031664); no patent foramen ovale (-HP:0001655); no patent ductus arteriosus (-HP:0001643); mild dilation left ventricular cavity (HP:0006698); no ventricular septal defect (-HP:0001629); no left ventricular dysfunction (-HP:0005162); atrial septal defect (HP:0001631); no left atrial enlargement (-HP:0031295); no cardiomegaly (-HP:0001640); no supravalvular aortic stenosis (-HP:0004381); mild hydronephrosis left (HP:0000126); no hydrocele testis (-HP:0000034); no hyperechogenic kidneys (-HP:0004719); no recurrent urinary tract infections (-HP:0000010); no hypospadias (-HP:0000047); no epicanthus (-HP:0000286); no depressed nasal bridge (-HP:0005280); no narrow nasal ridge (-HP:0000418); no micrognathia (-HP:0000347); no triangular face (-HP:0000325); no high forehead (-HP:0000348); no plagiocephaly (-HP:0001357); no macrocephaly at birth (-HP:0004488); no proptosis (-HP:0000520); no delayed myelination (-HP:0012448); no MRS reduced brain N-acetyl aspartate level(-HP:0012708); no poor fine motor coordination (-HP:0007010); no nystagmus (-HP:0000639); no neurodevelopmental delay (-HP:0012758); failure to thrive (HP:0001508); no joint laxity (-HP:0001388); sepsis (HP:0100806); no recurrent fever (-HP:0001954); no recurrent otitis media (-HP:0000403); no cholesteatoma (-HP:0009797); no inappropriate crying (-HP:0030215); no irritability (-HP:0000737); no short attention span (-HP:0000736); no delayed speech and language development (-HP:0000750); no dry hair (-HP:0011359); no nail dystrophy (-HP:0008404); no hypotonia (-HP:0001252); no eczema (-HP:0000964); no dermal translucency (-HP:0010648); no blue nevus (-HP:0100814)"	""	""	""	""	""	""	""	""	""	""	""	"SCOLIV"	"neurodevelopmental delay"	""
"0000307747"	"05611"	"00415976"	"00006"	"Familial, autosomal recessive"	"10y"	"10y-died from multi-organ failure; no intrauterine growth retardation (-HP:0001511) (3.2kg); hepatomegaly (HP:0002240); cirrhosis  (HP:0001394); elevated hepatic enzymes; hypoalbuminemia (HP:0003073); splenomegaly (HP:0001744); no multinodularity; abnormal hepatic echogenicity (HP:0031142); intrahepatic cholestasis (HP:0001406); jaundice (HP:0000952); no elevated alpha-fetoprotein (-HP:0006254); ascites (HP:0001541); no biliary hyperplasia (-HP:0006560); no portal inflammation (-HP:0033196); no hepatic steatosis (-HP:0001397); no elevated hepatic iron concentration (-HP:0012465); no increased hepatic glycogen content (-HP:0006568); hepatic encephalopathy (HP:0002480); hepatic failure (HP:0001399); abdominal distension (HP:0003270); no diarrhea (-HP:0002014); no dependency on parenteral nutrition (-HP:0033994); no feeding difficulties (-HP:0011968); no inguinal hernia (-HP:0000023); no umbilical hernia (-HP:0001537); no vomiting (-HP:0002013); malnutrition (HP:0004395); no cow milk allergy (-HP:0100327); no chronic gastritis (-HP:0005231); no gastroesophageal reflux (-HP:0002020); no protein-losing enteropathy (-HP:0002243); no peritonitis (-HP:0002586); no hypoplasia of the pancreas (-HP:0100800); hyperbilirubinemia (HP:0002904); no increased circulating ferritin concentration (-HP:0003281); no hyperinsulinemic hypoglycemia (-HP:0000825); no abnormal thyroid hormone levels (-HP:0031508); no metabolic acidosis (-HP:0001942); no hyperammonemia (-HP:0001987); low levels of vitamin D (HP:0100512); no aminoaciduria (-HP:0003355); no neonatal hypocalcemia (-HP:0002901); no hyponatremia (-HP:0002902); no hypokalemia (-HP:0002900); abnormality of coagulation (HP:0001928); anemia (HP:0001903); thrombocytopenia (HP:0001873); no lymphocytosis (-HP:0100827); no agranulocytosis (-HP:0012234); leukopenia (HP:0001882); no cough (-HP:0012735); pneumonia (HP:0002090); no pulmonary edema (-HP:0100598); no status asthmaticus (-HP:0012653); no systolic heart murmur (-HP:0031664); no patent foramen ovale (-HP:0001655); no patent ductus arteriosus (-HP:0001643); no dilation of the ventricular cavity (-HP:0006698); no ventricular septal defect (-HP:0001629); no left ventricular dysfunction (-HP:0005162); no atrial septal defect (-HP:0001631); no left atrial enlargement (-HP:0031295); no cardiomegaly (-HP:0001640); no supravalvular aortic stenosis (-HP:0004381); no hydronephrosis (-HP:0000126); no hydrocele testis (-HP:0000034); no hyperechogenic kidneys (-HP:0004719); no recurrent urinary tract infections (-HP:0000010); no hypospadias (-HP:0000047); no epicanthus (-HP:0000286); no depressed nasal bridge (-HP:0005280); no narrow nasal ridge (-HP:0000418); no micrognathia (-HP:0000347); no triangular face (-HP:0000325); no high forehead (-HP:0000348); no plagiocephaly (-HP:0001357); no macrocephaly at birth (-HP:0004488); no proptosis (-HP:0000520); no delayed myelination (-HP:0012448); no MRS reduced brain N-acetyl aspartate level(-HP:0012708); no poor fine motor coordination (-HP:0007010); no nystagmus (-HP:0000639); no neurodevelopmental delay (-HP:0012758); failure to thrive (HP:0001508); no joint laxity (-HP:0001388); no sepsis (-HP:0100806); recurrent fever (HP:0001954); no recurrent otitis media (-HP:0000403); no cholesteatoma (-HP:0009797); no inappropriate crying (-HP:0030215); no irritability (-HP:0000737); no short attention span (-HP:0000736); no delayed speech and language development (-HP:0000750); no dry hair (-HP:0011359); no nail dystrophy (-HP:0008404); no hypotonia (-HP:0001252); no eczema (-HP:0000964); no dermal translucency (-HP:0010648); no blue nevus (-HP:0100814)"	""	""	""	""	""	""	""	""	""	""	""	"SCOLIV"	"neurodevelopmental delay"	""
"0000307748"	"05611"	"00415977"	"00006"	"Familial, autosomal recessive"	"3m"	"3m-died from hepatic failure; intrauterine growth retardation (HP:0001511) (0.95kg); hepatomegaly (HP:0002240); cirrhosis  (HP:0001394); elevated hepatic enzymes; hypoalbuminemia (HP:0003073); splenomegaly (HP:0001744); multinodularity; abnormal hepatic echogenicity (HP:0031142); intrahepatic cholestasis (HP:0001406); jaundice (HP:0000952); elevated alpha-fetoprotein (HP:0006254); no ascites (-HP:0001541); biliary hyperplasia (HP:0006560); no portal inflammation (-HP:0033196); no ballooning hepatocyte degeneration (-HP:0033193); no hepatic steatosis (-HP:0001397); elevated hepatic iron concentration (HP:0012465); no hepatic encephalopathy (-HP:0002480); hepatic failure (HP:0001399); abdominal distension (HP:0003270); no diarrhea (-HP:0002014); no dependency on parenteral nutrition (-HP:0033994); transitory feeding difficulties (HP:0011968); no inguinal hernia (-HP:0000023); umbilical hernia (HP:0001537); no vomiting (-HP:0002013); no malnutrition (-HP:0004395); no cow milk allergy (-HP:0100327); no chronic gastritis (-HP:0005231); no gastroesophageal reflux (-HP:0002020); no protein-losing enteropathy (-HP:0002243); no peritonitis (-HP:0002586); no exocrine pancreatic insufficiency (-HP:0001738); no hypoplasia of the pancreas (-HP:0100800); hyperbilirubinemia (HP:0002904); increased circulating ferritin concentration (HP:0003281); hyperinsulinemic hypoglycemia with normal insulin (-HP:0000825); abnormal thyroid hormone levels (HP:0031508); no metabolic acidosis (-HP:0001942); no hyperammonemia (-HP:0001987); no alpha-aminobutyric aciduria (-HP:0025631); no aminoaciduria (-HP:0003355); no hyperalaninemia (-HP:0003348); no neonatal hypocalcemia (-HP:0002901); no hyponatremia (-HP:0002902); no hypokalemia (-HP:0002900); abnormality of coagulation (HP:0001928); anemia (HP:0001903); thrombocytopenia (HP:0001873); no lymphocytosis (-HP:0100827); no agranulocytosis (-HP:0012234); no leukopenia (-HP:0001882); no cough (-HP:0012735); no pneumonia (-HP:0002090); no pulmonary edema (-HP:0100598); no status asthmaticus (-HP:0012653); systolic heart murmur (HP:0031664); patent foramen ovale (HP:0001655); mild patent ductus arteriosus (HP:0001643); no dilation of the ventricular cavity (-HP:0006698); no ventricular septal defect (-HP:0001629); no left ventricular dysfunction (-HP:0005162); no atrial septal defect (-HP:0001631); no left atrial enlargement (-HP:0031295); no cardiomegaly (-HP:0001640); no supravalvular aortic stenosis (-HP:0004381); no hydronephrosis (-HP:0000126); hydrocele testis (HP:0000034); no hyperechogenic kidneys (-HP:0004719); no recurrent urinary tract infections (-HP:0000010); no hypospadias (-HP:0000047); no epicanthus (-HP:0000286); no depressed nasal bridge (-HP:0005280); no narrow nasal ridge (-HP:0000418); no micrognathia (-HP:0000347); no triangular face (-HP:0000325); no high forehead (-HP:0000348); no plagiocephaly (-HP:0001357); no macrocephaly at birth (-HP:0004488); no proptosis (-HP:0000520); no delayed myelination (-HP:0012448); no MRS reduced brain N-acetyl aspartate level(-HP:0012708); no nystagmus (-HP:0000639); no neurodevelopmental delay (-HP:0012758); no failure to thrive (-HP:0001508); no joint laxity (-HP:0001388); no sepsis (-HP:0100806); no recurrent fever (-HP:0001954); no recurrent otitis media (-HP:0000403); no cholesteatoma (-HP:0009797); no inappropriate crying (-HP:0030215); no irritability (-HP:0000737); no delayed speech and language development (-HP:0000750); no dry hair (-HP:0011359); no nail dystrophy (-HP:0008404); no hypotonia (-HP:0001252); no eczema (-HP:0000964); no dermal translucency (-HP:0010648); no blue nevus (-HP:0100814)"	""	""	""	""	""	""	""	""	""	""	""	"SCOLIV"	"neurodevelopmental delay"	""
"0000307749"	"05611"	"00415978"	"00006"	"Familial, autosomal recessive"	"1y"	"no intrauterine growth retardation (-HP:0001511) (1.26kg); hepatomegaly (HP:0002240); cirrhosis  (HP:0001394); no elevated hepatic enzymes; hypoalbuminemia (HP:0003073); splenomegaly (HP:0001744); no multinodularity; no abnormal hepatic echogenicity (-HP:0031142); no intrahepatic cholestasis (-HP:0001406); jaundice, only 1d (HP:0000952); no elevated alpha-fetoprotein (-HP:0006254); no ascites (-HP:0001541); no biliary hyperplasia (-HP:0006560); portal inflammation (HP:0033196); ballooning hepatocyte degeneration (HP:0033193); hepatic steatosis (HP:0001397); no elevated hepatic iron concentration (-HP:0012465); no increased hepatic glycogen content (-HP:0006568); no hepatic encephalopathy (-HP:0002480); no hepatic failure (-HP:0001399); abdominal distension (HP:0003270); no diarrhea (-HP:0002014); no dependency on parenteral nutrition (-HP:0033994); feeding difficulties (HP:0011968); no inguinal hernia (-HP:0000023); no umbilical hernia (-HP:0001537); vomiting (HP:0002013); malnutrition (HP:0004395); cow milk allergy (HP:0100327); chronic gastritis (HP:0005231); no gastroesophageal reflux (-HP:0002020); no protein-losing enteropathy (-HP:0002243); no peritonitis (-HP:0002586); no exocrine pancreatic insufficiency (-HP:0001738); no hypoplasia of the pancreas (-HP:0100800); no hyperbilirubinemia (-HP:0002904); no increased circulating ferritin concentration (-HP:0003281); no hyperinsulinemic hypoglycemia (HP:0000825); abnormal thyroid hormone levels (HP:0031508); no metabolic acidosis (-HP:0001942); no hyperammonemia (-HP:0001987); no alpha-aminobutyric aciduria (-HP:0025631); no aminoaciduria (-HP:0003355); no hyperalaninemia (-HP:0003348); no neonatal hypocalcemia (-HP:0002901); no hyponatremia (-HP:0002902); no hypokalemia (-HP:0002900); no abnormality of coagulation (-HP:0001928); no anemia (-HP:0001903); no thrombocytopenia (-HP:0001873); no lymphocytosis (-HP:0100827); no agranulocytosis (-HP:0012234); no leukopenia (-HP:0001882); no cough (-HP:0012735); no pneumonia (-HP:0002090); no pulmonary edema (-HP:0100598); no status asthmaticus (-HP:0012653); no systolic heart murmur (-HP:0031664); no patent foramen ovale (-HP:0001655); no patent ductus arteriosus (-HP:0001643); no dilation of the ventricular cavity (-HP:0006698); no ventricular septal defect (-HP:0001629); no left ventricular dysfunction (-HP:0005162); no atrial septal defect (-HP:0001631); no left atrial enlargement (-HP:0031295); no cardiomegaly (-HP:0001640); no supravalvular aortic stenosis (-HP:0004381); no hydronephrosis (-HP:0000126); no hydrocele testis (-HP:0000034); no hyperechogenic kidneys (-HP:0004719); no recurrent urinary tract infections (-HP:0000010); no hypospadias (-HP:0000047); no epicanthus (-HP:0000286); depressed nasal bridge (HP:0005280); narrow nasal ridge (HP:0000418); no micrognathia (-HP:0000347); no triangular face (-HP:0000325); no high forehead (-HP:0000348); no plagiocephaly (-HP:0001357); no macrocephaly at birth (-HP:0004488); no proptosis (-HP:0000520); no delayed myelination (-HP:0012448); no MRS reduced brain N-acetyl aspartate level(-HP:0012708); no poor fine motor coordination (-HP:0007010); nystagmus (HP:0000639); neurodevelopmental delay (HP:0012758); failure to thrive (HP:0001508); no joint laxity (-HP:0001388); sepsis (HP:0100806); no recurrent fever (-HP:0001954); no recurrent otitis media (-HP:0000403); no cholesteatoma (-HP:0009797); no inappropriate crying (-HP:0030215); no irritability (-HP:0000737); no short attention span (-HP:0000736); no delayed speech and language development (-HP:0000750); no dry hair (-HP:0011359); no nail dystrophy (-HP:0008404); no hypotonia (-HP:0001252); no eczema (-HP:0000964); no dermal translucency (-HP:0010648); no blue nevus (-HP:0100814)"	""	""	""	""	""	""	""	""	""	""	""	"SCOLIV"	"neurodevelopmental delay"	""
"0000307750"	"05611"	"00415979"	"00006"	"Familial, autosomal recessive"	"5y"	"intrauterine growth retardation (HP:0001511) (2.23); hepatomegaly (HP:0002240); cirrhosis  (HP:0001394); elevated hepatic enzymes; no hypoalbuminemia (-HP:0003073); splenomegaly (HP:0001744); multinodularity; abnormal hepatic echogenicity (HP:0031142); no intrahepatic cholestasis (-HP:0001406); no jaundice (-HP:0000952); <1y-elevated alpha-fetoprotein (HP:0006254); no ascites (-HP:0001541); no biliary hyperplasia (-HP:0006560); no portal inflammation (-HP:0033196); no ballooning hepatocyte degeneration (-HP:0033193); no hepatic steatosis (-HP:0001397); no elevated hepatic iron concentration (-HP:0012465); no increased hepatic glycogen content (-HP:0006568); no hepatic encephalopathy (-HP:0002480); no hepatic failure (-HP:0001399); no abdominal distension (-HP:0003270); no diarrhea (-HP:0002014); no dependency on parenteral nutrition (-HP:0033994); no feeding difficulties (-HP:0011968); inguinal hernia (HP:0000023); no umbilical hernia (-HP:0001537); no vomiting (-HP:0002013); <1y-malnutrition (HP:0004395); no cow milk allergy (-HP:0100327); no chronic gastritis (-HP:0005231); no gastroesophageal reflux (-HP:0002020); no protein-losing enteropathy (-HP:0002243); no peritonitis (-HP:0002586); no exocrine pancreatic insufficiency (-HP:0001738); no hypoplasia of the pancreas (-HP:0100800); no hyperbilirubinemia (-HP:0002904); no increased circulating ferritin concentration (-HP:0003281); hyperinsulinemic hypoglycemia (HP:0000825); no abnormal thyroid hormone levels (-HP:0031508); no metabolic acidosis (-HP:0001942); no hyperammonemia (-HP:0001987); no low levels of vitamin D (-HP:0100512); no low levels of vitamin A (-HP:0004905); no low levels of vitamin E (-HP:0100513); no aminoaciduria (-HP:0003355); no hyperalaninemia (-HP:0003348); no hypokalemia (-HP:0002900); no abnormality of coagulation (-HP:0001928); no anemia (-HP:0001903); no thrombocytopenia (-HP:0001873); no lymphocytosis (-HP:0100827); no agranulocytosis (-HP:0012234); no leukopenia (-HP:0001882); no cough (-HP:0012735); no pneumonia (-HP:0002090); no pulmonary edema (-HP:0100598); no status asthmaticus (-HP:0012653); systolic heart murmur (HP:0031664); no patent foramen ovale (-HP:0001655); no patent ductus arteriosus (-HP:0001643); no dilation of the ventricular cavity (-HP:0006698); no ventricular septal defect (-HP:0001629); no left ventricular dysfunction (-HP:0005162); no atrial septal defect (-HP:0001631); no left atrial enlargement (-HP:0031295); no cardiomegaly (-HP:0001640); no supravalvular aortic stenosis (-HP:0004381); no hydronephrosis (-HP:0000126); no hydrocele testis (-HP:0000034); no hyperechogenic kidneys (-HP:0004719); no recurrent urinary tract infections (-HP:0000010); no hypospadias (-HP:0000047); no epicanthus (-HP:0000286); no depressed nasal bridge (-HP:0005280); narrow nasal ridge (HP:0000418); no micrognathia (-HP:0000347); no triangular face (-HP:0000325); no high forehead (-HP:0000348); no plagiocephaly (-HP:0001357); macrocephaly at birth (HP:0004488); proptosis (HP:0000520); no delayed myelination (-HP:0012448); no MRS reduced brain N-acetyl aspartate level(-HP:0012708); no poor fine motor coordination (-HP:0007010); no nystagmus (-HP:0000639); no neurodevelopmental delay (-HP:0012758); failure to thrive (HP:0001508); joint laxity (HP:0001388); no sepsis (-HP:0100806); no recurrent fever (-HP:0001954); no recurrent otitis media (-HP:0000403); no cholesteatoma (-HP:0009797); no inappropriate crying (-HP:0030215); no irritability (-HP:0000737); no short attention span (-HP:0000736); no delayed speech and language development (-HP:0000750); no dry hair (-HP:0011359); nail dystrophy (HP:0008404); hypotonia (HP:0001252); no eczema (-HP:0000964); dermal translucency (HP:0010648); no blue nevus (-HP:0100814)"	""	""	""	""	""	""	""	""	""	""	""	"SCOLIV"	"neurodevelopmental delay"	""


## Screenings ## Do not remove or alter this header ##
## Count = 24
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000011596"	"00011681"	"1"	"00661"	"00661"	"2014-02-19 18:23:39"	""	""	"SEQ"	"DNA"	"leukocyte"	""
"0000016060"	"00016138"	"1"	"00661"	"00661"	"2014-02-26 16:07:49"	""	""	"SEQ"	"DNA"	"leukocyte"	""
"0000016194"	"00016276"	"1"	"00661"	"00006"	"2014-03-01 16:18:55"	""	""	"SEQ"	"DNA"	"leukocyte"	""
"0000017596"	"00017613"	"1"	"00705"	"00705"	"2014-06-24 14:06:02"	""	""	"SEQ"	"DNA"	""	""
"0000240144"	"00239032"	"1"	"03308"	"03308"	"2019-05-31 11:40:59"	""	""	"SEQ"	"DNA"	""	""
"0000240246"	"00239142"	"1"	"03308"	"03308"	"2019-06-03 08:43:07"	""	""	"SEQ"	"DNA"	""	""
"0000240247"	"00239143"	"1"	"03308"	"03308"	"2019-06-03 09:15:56"	""	""	"SEQ"	"DNA"	""	""
"0000240248"	"00239144"	"1"	"03308"	"03308"	"2019-06-03 09:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000302809"	"00301684"	"1"	"03308"	"03308"	"2020-05-20 10:44:01"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000302810"	"00301685"	"1"	"03308"	"03308"	"2020-05-20 10:47:21"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000417246"	"00415966"	"1"	"00006"	"00006"	"2022-08-19 13:43:04"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000417247"	"00415967"	"1"	"00006"	"00006"	"2022-08-19 13:43:04"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000417248"	"00415968"	"1"	"00006"	"00006"	"2022-08-19 13:43:04"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000417249"	"00415969"	"1"	"00006"	"00006"	"2022-08-19 13:43:04"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000417250"	"00415970"	"1"	"00006"	"00006"	"2022-08-19 13:43:04"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000417251"	"00415971"	"1"	"00006"	"00006"	"2022-08-19 13:43:04"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000417252"	"00415972"	"1"	"00006"	"00006"	"2022-08-19 13:43:04"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000417253"	"00415973"	"1"	"00006"	"00006"	"2022-08-19 13:43:04"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000417254"	"00415974"	"1"	"00006"	"00006"	"2022-08-19 13:43:04"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000417255"	"00415975"	"1"	"00006"	"00006"	"2022-08-19 13:43:04"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000417256"	"00415976"	"1"	"00006"	"00006"	"2022-08-19 13:43:04"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000417257"	"00415977"	"1"	"00006"	"00006"	"2022-08-19 13:43:04"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000417258"	"00415978"	"1"	"00006"	"00006"	"2022-08-19 13:43:04"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000417259"	"00415979"	"1"	"00006"	"00006"	"2022-08-19 13:43:04"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 10
"{{screeningid}}"	"{{geneid}}"
"0000011596"	"FOCAD"
"0000016060"	"FOCAD"
"0000016194"	"FOCAD"
"0000017596"	"COASY"
"0000240144"	"FOCAD"
"0000240246"	"FOCAD"
"0000240247"	"FOCAD"
"0000240248"	"FOCAD"
"0000302809"	"FOCAD"
"0000302810"	"FOCAD"


## 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 = 57
"{{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}}"
"0000031253"	"0"	"75"	"9"	"20929349"	"20929349"	"subst"	"0"	"00661"	"FOCAD_000001"	"g.20929349T>A"	"1/192 cases"	""	""	""	"variant marked as interesting (probably affects gene function with phenotypic consequences) but have not yet sufficient evidence to publish - please contact me"	"Germline"	""	""	"1"	""	""	"g.20929350T>A"	""	"likely pathogenic"	""
"0000035742"	"0"	"95"	"9"	"20770046"	"20770046"	"subst"	"0"	"00661"	"FOCAD_000002"	"g.20770046C>T"	"1/192 cases"	""	""	""	"variant marked as interesting (probably affects gene function with phenotypic consequences) but have not yet sufficient evidence to publish - please contact me"	"Germline"	""	""	"1"	""	""	"g.20770047C>T"	""	"pathogenic"	""
"0000035917"	"1"	"55"	"9"	"20923757"	"20923757"	"subst"	"3.66987E-5"	"00661"	"FOCAD_000003"	"g.20923757G>A"	"1/192 cases"	""	""	""	"variant marked as interesting (probably affects gene function with phenotypic consequences) but have not yet sufficient evidence to publish - please contact me"	"Unknown"	""	""	"1"	""	""	"g.20923758G>A"	""	"VUS"	""
"0000117672"	"3"	"30"	"9"	"20885216"	"20885216"	"subst"	"0.000209185"	"00006"	"FOCAD_000004"	"g.20885216C>T"	""	"{PMID:Dusi 2014:24360804}"	""	""	""	"Germline"	""	"rs187654100"	"0"	""	""	"g.20885217C>T"	""	"likely benign"	""
"0000287832"	"0"	"50"	"9"	"20881888"	"20881888"	"subst"	"0.00138215"	"01943"	"FOCAD_000005"	"g.20881888C>T"	""	""	""	"FOCAD(NM_017794.4):c.2336C>T (p.T779I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.20881889C>T"	""	"VUS"	""
"0000484154"	"0"	"50"	"9"	"20758097"	"20758097"	"subst"	"0.000159277"	"03308"	"FOCAD_000006"	"g.20758097C>T"	""	""	""	""	""	"Germline"	"?"	"rs143814736"	"0"	""	""	"g.20758098C>T"	""	"VUS"	""
"0000484272"	"0"	"50"	"9"	"20789545"	"20789545"	"subst"	"0.000915148"	"03308"	"FOCAD_000007"	"g.20789545G>A"	""	""	""	""	""	"Germline"	"no"	"rs112541381"	"0"	""	""	"g.20789546G>A"	""	"VUS"	""
"0000484273"	"0"	"50"	"9"	"20923667"	"20923667"	"subst"	"0.000382322"	"03308"	"FOCAD_000008"	"g.20923667C>T"	""	""	""	""	""	"Germline"	"-"	"rs200166806"	"0"	""	""	"g.20923668C>T"	""	"VUS"	""
"0000484274"	"0"	"50"	"9"	"20926379"	"20926379"	"subst"	"0.00145917"	"03308"	"FOCAD_000009"	"g.20926379A>G"	""	""	""	""	""	"Germline"	"?"	"rs137931934"	"0"	""	""	"g.20926380A>G"	""	"VUS"	""
"0000537774"	"0"	"50"	"9"	"20770059"	"20770059"	"subst"	"3.25142E-5"	"01943"	"FOCAD_000011"	"g.20770059C>T"	""	""	""	"FOCAD(NM_017794.4):c.728C>T (p.A243V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.20770060C>T"	""	"VUS"	""
"0000537780"	"0"	"30"	"9"	"20862589"	"20862589"	"subst"	"4.48346E-5"	"01943"	"FOCAD_000012"	"g.20862589C>T"	""	""	""	"FOCAD(NM_017794.4):c.1933C>T (p.R645C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.20862590C>T"	""	"likely benign"	""
"0000537785"	"0"	"50"	"9"	"20881950"	"20881950"	"subst"	"0"	"01943"	"FOCAD_000013"	"g.20881950G>A"	""	""	""	"FOCAD(NM_017794.4):c.2398G>A (p.G800R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.20881951G>A"	""	"VUS"	""
"0000537787"	"0"	"50"	"9"	"20885231"	"20885231"	"subst"	"6.74197E-5"	"02327"	"FOCAD_000014"	"g.20885231T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.20885232T>C"	""	"VUS"	""
"0000537788"	"0"	"10"	"9"	"20885240"	"20885240"	"subst"	"0.588672"	"02327"	"FOCAD_000015"	"g.20885240G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.20885241G>A"	""	"benign"	""
"0000537789"	"0"	"50"	"9"	"20907172"	"20907172"	"subst"	"0"	"01943"	"FOCAD_000016"	"g.20907172G>A"	""	""	""	"FOCAD(NM_017794.4):c.2649G>A (p.W883*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.20907173G>A"	""	"VUS"	""
"0000537790"	"0"	"50"	"9"	"20929426"	"20929426"	"subst"	"8.13127E-6"	"01943"	"FOCAD_000017"	"g.20929426C>G"	""	""	""	"FOCAD(NM_017794.4):c.3148C>G (p.L1050V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.20929427C>G"	""	"VUS"	""
"0000537792"	"0"	"10"	"9"	"20933030"	"20933030"	"subst"	"0.0105879"	"01943"	"FOCAD_000019"	"g.20933030A>C"	""	""	""	"FOCAD(NM_001375567.1):c.3335A>C (p.(Glu1112Ala)), FOCAD(NM_017794.4):c.3335A>C (p.E1112A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.20933031A>C"	""	"benign"	""
"0000537796"	"0"	"30"	"9"	"20981542"	"20981542"	"subst"	"0.00368147"	"01943"	"FOCAD_000023"	"g.20981542C>T"	""	""	""	"FOCAD(NM_017794.4):c.4495C>T (p.P1499S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.20981543C>T"	""	"likely benign"	""
"0000537797"	"0"	"10"	"9"	"20981684"	"20981684"	"subst"	"0.000903457"	"01943"	"FOCAD_000024"	"g.20981684G>A"	""	""	""	"FOCAD(NM_017794.4):c.4637G>A (p.R1546Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.20981685G>A"	""	"benign"	""
"0000537798"	"0"	"30"	"9"	"20995555"	"20995555"	"subst"	"0.00130192"	"01943"	"FOCAD_000025"	"g.20995555C>T"	""	""	""	"FOCAD(NM_017794.4):c.5333C>T (p.A1778V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.20995556C>T"	""	"likely benign"	""
"0000612057"	"0"	"50"	"9"	"20820368"	"20820368"	"subst"	"2.45676E-5"	"01943"	"FOCAD_000026"	"g.20820368A>G"	""	""	""	"FOCAD(NM_017794.4):c.1606A>G (p.T536A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.20820369A>G"	""	"VUS"	""
"0000612058"	"0"	"50"	"9"	"20926306"	"20926306"	"subst"	"0.000391039"	"01943"	"FOCAD_000027"	"g.20926306C>A"	""	""	""	"FOCAD(NM_017794.4):c.2968C>A (p.P990T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.20926307C>A"	""	"VUS"	""
"0000666166"	"0"	"50"	"9"	"20881990"	"20881990"	"subst"	"5.29135E-5"	"03308"	"FOCAD_000028"	"g.20881990T>A"	""	""	""	""	""	"Germline"	"?"	"rs758778522"	"0"	""	""	"g.20881991T>A"	""	"VUS"	""
"0000666167"	"0"	"50"	"9"	"20929574"	"20929574"	"subst"	"6.10362E-5"	"03308"	"FOCAD_000029"	"g.20929574G>A"	""	""	""	""	""	"Germline"	"?"	"rs200667588"	"0"	""	""	"g.20929575G>A"	""	"VUS"	""
"0000678649"	"0"	"30"	"9"	"20781774"	"20781774"	"subst"	"4.06197E-6"	"01943"	"FOCAD_000030"	"g.20781774C>G"	""	""	""	"FOCAD(NM_017794.4):c.1043C>G (p.S348C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000690506"	"0"	"50"	"9"	"20720434"	"20720434"	"subst"	"4.06293E-6"	"01943"	"FOCAD_000031"	"g.20720434G>C"	""	""	""	"FOCAD(NM_017794.4):c.188G>C (p.R63P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000722467"	"0"	"50"	"9"	"20885204"	"20885204"	"subst"	"0"	"01943"	"FOCAD_000032"	"g.20885204A>T"	""	""	""	"FOCAD(NM_017794.4):c.2600A>T (p.Q867L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000876857"	"11"	"50"	"9"	"20820964"	"20820964"	"subst"	"2.03676E-5"	"00006"	"FOCAD_000038"	"g.20820964C>T"	""	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.20820965C>T"	""	"VUS"	""
"0000876858"	"11"	"90"	"9"	"20907199"	"20907199"	"dup"	"0"	"00006"	"FOCAD_000041"	"g.20907199dup"	""	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	""	"2675dupC"	""	"Germline"	""	""	"0"	""	""	"g.20907200dup"	""	"pathogenic (recessive)"	""
"0000876859"	"11"	"70"	"9"	"20798138"	"20988206"	"del"	"0"	"00006"	"FOCAD_000036"	"g.20798138_20988206del"	""	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.20798139_20988207del"	""	"likely pathogenic (recessive)"	""
"0000876860"	"3"	"50"	"9"	"20995561"	"20995561"	"subst"	"0"	"00006"	"FOCAD_000046"	"g.20995561T>C"	""	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.20995562T>C"	""	"VUS"	""
"0000876861"	"3"	"70"	"9"	"20764956"	"20764956"	"subst"	"1.6259E-5"	"00006"	"FOCAD_000035"	"g.20764956C>T"	""	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.20764957C>T"	""	"likely pathogenic (recessive)"	""
"0000876862"	"3"	"70"	"9"	"20764956"	"20764956"	"subst"	"1.6259E-5"	"00006"	"FOCAD_000035"	"g.20764956C>T"	""	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.20764957C>T"	""	"likely pathogenic (recessive)"	""
"0000876863"	"3"	"70"	"9"	"20764956"	"20764956"	"subst"	"1.6259E-5"	"00006"	"FOCAD_000035"	"g.20764956C>T"	""	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.20764957C>T"	""	"likely pathogenic (recessive)"	""
"0000876864"	"3"	"70"	"9"	"20978419"	"20978419"	"del"	"0"	"00006"	"FOCAD_000044"	"g.20978419del"	""	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	""	"4343delT"	""	"Germline"	""	""	"0"	""	""	"g.20978420del"	""	"likely pathogenic (recessive)"	""
"0000876865"	"3"	"70"	"9"	"20978419"	"20978419"	"del"	"0"	"00006"	"FOCAD_000044"	"g.20978419del"	""	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	""	"4343delT"	""	"Germline"	""	""	"0"	""	""	"g.20978420del"	""	"likely pathogenic (recessive)"	""
"0000876866"	"3"	"70"	"9"	"20978419"	"20978419"	"del"	"0"	"00006"	"FOCAD_000044"	"g.20978419del"	""	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	""	"4343delT"	""	"Germline"	""	""	"0"	""	""	"g.20978420del"	""	"likely pathogenic (recessive)"	""
"0000876867"	"3"	"50"	"9"	"20944747"	"20944747"	"subst"	"0.000105893"	"00006"	"FOCAD_000042"	"g.20944747G>A"	""	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.20944748G>A"	""	"VUS"	""
"0000876868"	"3"	"70"	"9"	"20758156"	"20758156"	"subst"	"0"	"00006"	"FOCAD_000034"	"g.20758156C>T"	""	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.20758157C>T"	""	"likely pathogenic (recessive)"	""
"0000876869"	"3"	"70"	"9"	"20866927"	"20866927"	"subst"	"0"	"00006"	"FOCAD_000039"	"g.20866927G>A"	""	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.20866928G>A"	""	"likely pathogenic (recessive)"	""
"0000876870"	"3"	"70"	"9"	"20820425"	"20820425"	"subst"	"0"	"00006"	"FOCAD_000037"	"g.20820425G>A"	""	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.20820426G>A"	""	"likely pathogenic (recessive)"	""
"0000876871"	"11"	"50"	"9"	"20948288"	"20948288"	"subst"	"0"	"00006"	"FOCAD_000043"	"g.20948288G>C"	""	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.20948289G>C"	""	"VUS"	""
"0000876872"	"21"	"90"	"9"	"20988428"	"20988428"	"subst"	"0"	"00006"	"FOCAD_000045"	"g.20988428G>C"	""	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.20988429G>C"	""	"pathogenic (recessive)"	""
"0000876873"	"21"	"90"	"9"	"20717792"	"20717792"	"subst"	"0"	"00006"	"FOCAD_000033"	"g.20717792G>A"	""	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.20717793G>A"	""	"pathogenic (recessive)"	""
"0000876874"	"21"	"70"	"9"	"20885191"	"20885191"	"subst"	"0"	"00006"	"FOCAD_000040"	"g.20885191C>T"	""	"{PMID:Moreno Traspas 2022:35864190}, {DOI:Moreno Traspas 2022:10.1038/s41588-022-01120-0}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.20885192C>T"	""	"likely pathogenic (recessive)"	""
"0000949256"	"0"	"90"	"9"	"20758182"	"20758182"	"subst"	"0"	"02329"	"FOCAD_000047"	"g.20758182C>A"	""	""	""	"FOCAD(NM_017794.5):c.486C>A (p.C162*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000949257"	"0"	"90"	"9"	"20982399"	"20982399"	"subst"	"0"	"02329"	"FOCAD_000048"	"g.20982399T>G"	""	""	""	"FOCAD(NM_017794.5):c.4682T>G (p.L1561*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000978649"	"0"	"30"	"9"	"20933030"	"20933030"	"subst"	"0.0105879"	"01804"	"FOCAD_000019"	"g.20933030A>C"	""	""	""	"FOCAD(NM_001375567.1):c.3335A>C (p.(Glu1112Ala)), FOCAD(NM_017794.4):c.3335A>C (p.E1112A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997810"	"0"	"30"	"9"	"20819871"	"20819871"	"subst"	"1.4259E-5"	"01804"	"FOCAD_000050"	"g.20819871A>G"	""	""	""	"FOCAD(NM_017794.3):c.1532A>G (p.(Tyr511Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997811"	"0"	"30"	"9"	"20823022"	"20823022"	"subst"	"1.25281E-5"	"01804"	"FOCAD_000051"	"g.20823022A>G"	""	""	""	"FOCAD(NM_017794.3):c.1828A>G (p.(Ile610Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037435"	"0"	"30"	"9"	"20715312"	"20715312"	"subst"	"0.0469453"	"01804"	"FOCAD_000052"	"g.20715312T>C"	""	""	""	"FOCAD(NM_001375567.1):c.-32-9T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037439"	"0"	"70"	"9"	"20885171"	"20885172"	"del"	"0"	"01804"	"FOCAD_000053"	"g.20885171_20885172del"	""	""	""	"FOCAD(NM_001375567.1):c.2567_2568del (p.(Arg856Thrfs*19))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001037440"	"0"	"70"	"9"	"20885230"	"20885230"	"subst"	"0"	"01804"	"FOCAD_000054"	"g.20885230G>T"	""	""	""	"FOCAD(NM_001375567.1):c.2625+1G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001037441"	"0"	"50"	"9"	"20986282"	"20986283"	"ins"	"0"	"01804"	"FOCAD_000055"	"g.20986282_20986283insTTTTTTTTTTTTTTTTTTTTTTTTT"	""	""	""	"FOCAD(NM_001375567.1):c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTTTTTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037442"	"0"	"50"	"9"	"20986282"	"20986283"	"ins"	"0"	"01804"	"FOCAD_000056"	"g.20986282_20986283insTTTTTTTTTTTTTTTTTTTTTTTTTT"	""	""	""	"FOCAD(NM_001375567.1):c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTTTTTTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001053216"	"0"	"50"	"9"	"20986271"	"20986282"	"dup"	"0"	"01804"	"FOCAD_000057"	"g.20986271_20986282dup"	""	""	""	"FOCAD(NM_001375567.1):c.4729-16_4729-5dup"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001053217"	"0"	"30"	"9"	"20986282"	"20986283"	"ins"	"0"	"01804"	"FOCAD_000058"	"g.20986282_20986283insTTTTTTTTTTTTTTTTTTTTT"	""	""	""	"FOCAD(NM_001375567.1):c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""


## 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 FOCAD
## Count = 57
"{{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}}"
"0000031253"	"00008052"	"75"	"3079"	"-8"	"3079"	"-8"	"c.3079-8T>A"	"r.(spl?)"	"p.(=)"	"28i"
"0000035742"	"00008052"	"75"	"715"	"0"	"715"	"0"	"c.715C>T"	"r.(?)"	"p.(Gln239*)"	"10"
"0000035917"	"00008052"	"55"	"2951"	"0"	"2951"	"0"	"c.2951G>A"	"r.(?)"	"p.(Gly984Glu)"	"24"
"0000117672"	"00008052"	"30"	"2612"	"0"	"2612"	"0"	"c.2612C>T"	"r.(?)"	"p.(Ala871Val)"	""
"0000287832"	"00008052"	"50"	"2336"	"0"	"2336"	"0"	"c.2336C>T"	"r.(?)"	"p.(Thr779Ile)"	""
"0000484154"	"00008052"	"50"	"401"	"0"	"401"	"0"	"c.401C>T"	"r.(?)"	"p.(Pro134Leu)"	""
"0000484272"	"00008052"	"50"	"1393"	"0"	"1393"	"0"	"c.1393G>A"	"r.(?)"	"p.(Gly465Arg)"	""
"0000484273"	"00008052"	"50"	"2861"	"0"	"2861"	"0"	"c.2861C>T"	"r.(?)"	"p.(Pro954Leu)"	""
"0000484274"	"00008052"	"50"	"3041"	"0"	"3041"	"0"	"c.3041A>G"	"r.(?)"	"p.(Tyr1014Cys)"	""
"0000537774"	"00008052"	"50"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000537780"	"00008052"	"30"	"1933"	"0"	"1933"	"0"	"c.1933C>T"	"r.(?)"	"p.(Arg645Cys)"	""
"0000537785"	"00008052"	"50"	"2398"	"0"	"2398"	"0"	"c.2398G>A"	"r.(?)"	"p.(Gly800Arg)"	""
"0000537787"	"00008052"	"50"	"2625"	"2"	"2625"	"2"	"c.2625+2T>C"	"r.spl?"	"p.?"	""
"0000537788"	"00008052"	"10"	"2625"	"11"	"2625"	"11"	"c.2625+11G>A"	"r.(=)"	"p.(=)"	""
"0000537789"	"00008052"	"50"	"2649"	"0"	"2649"	"0"	"c.2649G>A"	"r.(?)"	"p.(Trp883Ter)"	""
"0000537790"	"00008052"	"50"	"3148"	"0"	"3148"	"0"	"c.3148C>G"	"r.(?)"	"p.(Leu1050Val)"	""
"0000537792"	"00008052"	"10"	"3335"	"0"	"3335"	"0"	"c.3335A>C"	"r.(?)"	"p.(Glu1112Ala)"	""
"0000537796"	"00008052"	"30"	"4495"	"0"	"4495"	"0"	"c.4495C>T"	"r.(?)"	"p.(Pro1499Ser)"	""
"0000537797"	"00008052"	"10"	"4637"	"0"	"4637"	"0"	"c.4637G>A"	"r.(?)"	"p.(Arg1546Gln)"	""
"0000537798"	"00008052"	"30"	"5333"	"0"	"5333"	"0"	"c.5333C>T"	"r.(?)"	"p.(Ala1778Val)"	""
"0000612057"	"00008052"	"50"	"1606"	"0"	"1606"	"0"	"c.1606A>G"	"r.(?)"	"p.(Thr536Ala)"	""
"0000612058"	"00008052"	"50"	"2968"	"0"	"2968"	"0"	"c.2968C>A"	"r.(?)"	"p.(Pro990Thr)"	""
"0000666166"	"00008052"	"50"	"2438"	"0"	"2438"	"0"	"c.2438T>A"	"r.(?)"	"p.(Ile813Asn)"	""
"0000666167"	"00008052"	"50"	"3296"	"0"	"3296"	"0"	"c.3296G>A"	"r.(?)"	"p.(Arg1099His)"	""
"0000678649"	"00008052"	"30"	"1043"	"0"	"1043"	"0"	"c.1043C>G"	"r.(?)"	"p.(Ser348Cys)"	""
"0000690506"	"00008052"	"50"	"188"	"0"	"188"	"0"	"c.188G>C"	"r.(?)"	"p.(Arg63Pro)"	""
"0000722467"	"00008052"	"50"	"2600"	"0"	"2600"	"0"	"c.2600A>T"	"r.(?)"	"p.(Gln867Leu)"	""
"0000876857"	"00008052"	"50"	"1687"	"0"	"1687"	"0"	"c.1687C>T"	"r.(?)"	"p.(Arg563Cys)"	""
"0000876858"	"00008052"	"90"	"2675"	"0"	"2675"	"0"	"c.2675dup"	"r.(?)"	"p.(Trp893LeufsTer32)"	""
"0000876859"	"00008052"	"70"	"1820"	"-24876"	"4496"	"6663"	"c.1820-24876_4496+6663del"	"r.?"	"p.?"	""
"0000876860"	"00008052"	"50"	"5339"	"0"	"5339"	"0"	"c.5339T>C"	"r.(?)"	"p.(Leu1780Pro)"	""
"0000876861"	"00008052"	"70"	"583"	"0"	"583"	"0"	"c.583C>T"	"r.(?)"	"p.(Arg195Ter)"	""
"0000876862"	"00008052"	"70"	"583"	"0"	"583"	"0"	"c.583C>T"	"r.(?)"	"p.(Arg195Ter)"	""
"0000876863"	"00008052"	"70"	"583"	"0"	"583"	"0"	"c.583C>T"	"r.(?)"	"p.(Arg195Ter)"	""
"0000876864"	"00008052"	"70"	"4343"	"0"	"4343"	"0"	"c.4343del"	"r.(?)"	"p.(Leu1448CysfsTer3)"	""
"0000876865"	"00008052"	"70"	"4343"	"0"	"4343"	"0"	"c.4343del"	"r.(?)"	"p.(Leu1448CysfsTer3)"	""
"0000876866"	"00008052"	"70"	"4343"	"0"	"4343"	"0"	"c.4343del"	"r.(?)"	"p.(Leu1448CysfsTer3)"	""
"0000876867"	"00008052"	"50"	"3529"	"0"	"3529"	"0"	"c.3529G>A"	"r.(?)"	"p.(Gly1177Arg)"	""
"0000876868"	"00008052"	"70"	"460"	"0"	"460"	"0"	"c.460C>T"	"r.(?)"	"p.(Gln154Ter)"	""
"0000876869"	"00008052"	"70"	"2107"	"-1"	"2107"	"-1"	"c.2107-1G>A"	"r.spl"	"p.?"	""
"0000876870"	"00008052"	"70"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.spl"	"p.?"	""
"0000876871"	"00008052"	"50"	"3694"	"0"	"3694"	"0"	"c.3694G>C"	"r.(?)"	"p.(Ala1232Pro)"	""
"0000876872"	"00008052"	"90"	"5004"	"0"	"5004"	"0"	"c.5004G>C"	"r.(?)"	"p.(Lys1668Asn)"	""
"0000876873"	"00008052"	"90"	"58"	"-1"	"58"	"-1"	"c.58-1G>A"	"r.spl"	"p.?"	""
"0000876874"	"00008052"	"70"	"2587"	"0"	"2587"	"0"	"c.2587C>T"	"r.(?)"	"p.(Arg863Ter)"	""
"0000949256"	"00008052"	"90"	"486"	"0"	"486"	"0"	"c.486C>A"	"r.(?)"	"p.(Cys162*)"	""
"0000949257"	"00008052"	"90"	"4682"	"0"	"4682"	"0"	"c.4682T>G"	"r.(?)"	"p.(Leu1561*)"	""
"0000978649"	"00008052"	"30"	"3335"	"0"	"3335"	"0"	"c.3335A>C"	"r.(?)"	"p.(Glu1112Ala)"	""
"0000997810"	"00008052"	"30"	"1532"	"0"	"1532"	"0"	"c.1532A>G"	"r.(?)"	"p.(Tyr511Cys)"	""
"0000997811"	"00008052"	"30"	"1828"	"0"	"1828"	"0"	"c.1828A>G"	"r.(?)"	"p.(Ile610Val)"	""
"0001037435"	"00008052"	"30"	"-32"	"-9"	"-32"	"-9"	"c.-32-9T>C"	"r.(=)"	"p.(=)"	""
"0001037439"	"00008052"	"70"	"2567"	"0"	"2568"	"0"	"c.2567_2568del"	"r.(?)"	"p.(Arg856Thrfs*19)"	""
"0001037440"	"00008052"	"70"	"2625"	"1"	"2625"	"1"	"c.2625+1G>T"	"r.spl?"	"p.?"	""
"0001037441"	"00008052"	"50"	"4729"	"-5"	"4729"	"-4"	"c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTTTTTT"	"r.spl?"	"p.?"	""
"0001037442"	"00008052"	"50"	"4729"	"-5"	"4729"	"-4"	"c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTTTTTTT"	"r.spl?"	"p.?"	""
"0001053216"	"00008052"	"50"	"4729"	"-16"	"4729"	"-5"	"c.4729-16_4729-5dup"	"r.spl?"	"p.?"	""
"0001053217"	"00008052"	"30"	"4729"	"-5"	"4729"	"-4"	"c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTT"	"r.spl?"	"p.?"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 28
"{{screeningid}}"	"{{variantid}}"
"0000011596"	"0000031253"
"0000016060"	"0000035742"
"0000016194"	"0000035917"
"0000017596"	"0000117672"
"0000240144"	"0000484154"
"0000240246"	"0000484272"
"0000240247"	"0000484273"
"0000240248"	"0000484274"
"0000302809"	"0000666166"
"0000302810"	"0000666167"
"0000417246"	"0000876857"
"0000417246"	"0000876871"
"0000417246"	"0000876874"
"0000417247"	"0000876858"
"0000417247"	"0000876872"
"0000417248"	"0000876859"
"0000417248"	"0000876873"
"0000417249"	"0000876860"
"0000417250"	"0000876861"
"0000417251"	"0000876862"
"0000417252"	"0000876863"
"0000417253"	"0000876864"
"0000417254"	"0000876865"
"0000417255"	"0000876866"
"0000417256"	"0000876867"
"0000417257"	"0000876868"
"0000417258"	"0000876869"
"0000417259"	"0000876870"