Total: 18893 cases
199(37.3%)
DECIPHER:285797
Abnormality of the intrahepatic bile duct Hypotelorism
DECIPHER:279825
Pigment gallstones Psychosis
DECIPHER:285761
Biliary atresia Long eyelashes
DECIPHER:284400
Aplasia/Hypoplasia of the gallbladder Axillary freckling
DECIPHER:249591
Abnormality of the gallbladder Abnormality of the pancreas Aplasia of the uterus
DECIPHER:285906
Absent gallbladder Hypertelorism
DECIPHER:328104
Cyst of the ductus choledochus Recurrent urinary tract infections
UDN:056
Cholelithiasis Neurogenic bladder
209(37.3%)
MyGene2:1427
Abnormal abdomen morphology Abnormality of head or neck Abnormality of the integument
210(37.0%)
MyGene2:1688
Abnormal abdomen morphology Abnormality of metabolism/homeostasis
MyGene2:1693
MyGene2:1701
MyGene2:1759
MyGene2:2089
DECIPHER:331173
Ascites Cleft palate Hydrops fetalis
MyGene2:1756
Abnormal abdomen morphology Abnormality of metabolism/homeostasis Abnormality of prenatal development or birth
MyGene2:1757
MyGene2:1758
DECIPHER:268480
Ascites Edema Vaginal atresia
220(36.7%)
MyGene2:1581
Congenital hypothyroidism Eczema Eosinophilia