Diseases of the digestive system
Diseases of liver
Autosomal recessive
9q21.11
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615219.7 | Kuwait | Male | No | Yes | Macrocephaly; Iris coloboma; Hypotonia; ... Macrocephaly; Iris coloboma; Hypotonia; Intrahepatic cholestasis with episodic jaundice; Multicystic kidney dysplasia  | NM_001170416.1:c.570_574dup | Homozygous | Autosomal, Recessive | Shaheen et al. 2017 | Patient has 2 distin... |