Phenotype #0000307744

Individual ID	00415973
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	SCOLIV
Phenotype details	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)
Inheritance	Familial, autosomal recessive
Age/Examination	1y (1 year)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-08-19 13:43:04 +02:00 (CEST)
Date last edited	N/A