Diseases of the digestive system
Diseases of liver
Autosomal recessive
8q12.3
Congenital bile acid synthesis defect-3 (CBAS3) is an autosomal recessive disorder characterized by prolonged jaundice after birth, hepatomegaly, conjugated hyperbilirubinemia, elevations in characteristic abnormal bile acids, and progressive intrahepatic cholestasis with liver fibrosis. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613812.1 | Saudi Arabia | Male | Cholestasis; Cirrhosis Cholestasis; Cirrhosis  | NM_004820.5:c.1057G>T | Homozygous | Autosomal, Recessive | Monies et al. 2017 |