211600.1.1

Saudi Arabia

Cholestasis; Sclerosing cholangitis; Short stature

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_014634.4:c.904C>T	2		Cholestasis, Progressive Familial Intrahepatic, 1

Patient had a similarly affected deceased brother

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
211600.1.2	Saudi Arabia	Cholestasis; Short stature	Male	Yes	Yes	Cousin of 211600.1.1