211600.1.2

Saudi Arabia

Cholestasis; Short stature

Male

Yes

Yes

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

Cousin of 211600.1.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
211600.1.1	Saudi Arabia	Cholestasis; Sclerosing cholangitis; Short stature	Female	Yes	Yes	Patient had a similarly affected deceased brother