All individuals with variants in gene FOCAD

24 entries on 1 page. Showing entries 1 - 24.
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00011681 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me F - Germany - - 1 - - polyposis colorectal adenomatous polyposis 1 1 Sukanya Horpaopan
00016138 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me F - Germany - - 1 - - polyposis colorectal adenomatous polyposis 1 1 Sukanya Horpaopan
00016276 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me M ? Germany - - 1 - - polyposis colorectal adenomatous polyposis 1 1 Sukanya Horpaopan
00017613 - PubMed: Dusi 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs F yes Italy - - - - - NBIA1 birth weight: 3,850 g; No history of perinatal complications;Normal early developmental 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 1 1 Marianne Vos (LOVD-team)
00239032 - - - M no Spain European Non-Finish 69y - - - FAP HP:0005227 1 1 Mariona Terradas
00239142 - - - M no Spain European Non-Finish 71y - - - FAP HP:0005227 HP:0003003 1 1 Mariona Terradas
00239143 - - - M ? Spain - 67y - - - FAP HP:0003003 HP:0005227 1 1 Mariona Terradas
00239144 - - - M no Spain European Non-Finish 61y - - - FAP HP:0005227 HP:0003003 1 1 Mariona Terradas
00301684 - - - ? ? Spain Non-finish European >71y - - - HNPCC (Lynch) 1st degree relatives: CRC (55y); CRC (69y); CRC (64y) Non-carrier: Son, cancer-free, polyps (41y) 1 1 Mariona Terradas
00301685 - - - ? ? Spain Non-finish European ? - - - HNPCC (Lynch) - 1 1 Mariona Terradas
00415966 Fam1PatII1 PubMed: Moreno Traspas 2022, Journal: Moreno Traspas 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M no India - - - - - NDD 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) 3 1 Johan den Dunnen
00415967 Fam2PatII2 PubMed: Moreno Traspas 2022, Journal: Moreno Traspas 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M no France - - - - - NDD 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) 2 1 Johan den Dunnen
00415968 Fam3PatII1 PubMed: Moreno Traspas 2022, Journal: Moreno Traspas 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M no United States - 7m - - - NDD 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) 2 1 Johan den Dunnen
00415969 Fam4PatII1 PubMed: Moreno Traspas 2022, Journal: Moreno Traspas 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M yes Saudi Arabia - 3m15d - - - NDD 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) 1 1 Johan den Dunnen
00415970 Fam5PatII1 PubMed: Moreno Traspas 2022, Journal: Moreno Traspas 2022 2 generation family, 3 affected (2F, M), unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - NDD 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) 1 3 Johan den Dunnen
00415971 Fam5PatII2 PubMed: Moreno Traspas 2022, Journal: Moreno Traspas 2022 sister F yes Saudi Arabia - - - - - NDD 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) 1 1 Johan den Dunnen
00415972 Fam5PatII3 PubMed: Moreno Traspas 2022, Journal: Moreno Traspas 2022 brother M yes Saudi Arabia - - - - - NDD 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) 1 1 Johan den Dunnen
00415973 Fam6PatII3 PubMed: Moreno Traspas 2022, Journal: Moreno Traspas 2022 2 generation family, 3 affected (3M), unaffected heterozygous carrier parents M yes Saudi Arabia - 1y - - - NDD 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) 1 3 Johan den Dunnen
00415974 Fam6PatII4 PubMed: Moreno Traspas 2022, Journal: Moreno Traspas 2022 brother M yes Saudi Arabia - - - - - NDD 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) 1 1 Johan den Dunnen
00415975 Fam6PatII6 PubMed: Moreno Traspas 2022, Journal: Moreno Traspas 2022 nephew M yes Saudi Arabia - 8m - - - NDD 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) 1 1 Johan den Dunnen
00415976 Fam7PatII3 PubMed: Moreno Traspas 2022, Journal: Moreno Traspas 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents F yes Pakistan - 10y - - - NDD 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) 1 1 Johan den Dunnen
00415977 Fam8PatII3 PubMed: Moreno Traspas 2022, Journal: Moreno Traspas 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - Portugal - 3m - - - NDD 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) 1 1 Johan den Dunnen
00415978 Fam9PatII2 PubMed: Moreno Traspas 2022, Journal: Moreno Traspas 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M yes Brazil - - - - - NDD 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) 1 1 Johan den Dunnen
00415979 Fam10PatII2 PubMed: Moreno Traspas 2022, Journal: Moreno Traspas 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M yes Brazil - - - - - NDD 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) 1 1 Johan den Dunnen
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