Purpose: Alagille syndrome is an autosomal dominant condition characterized by a paucity of interlobular bile ducts and chronic cholestasis, cardiac disease, skeletal abnormalities, ocular ...

Autosomal inheritance is when a parent passes down a condition to a child via autosomes, a type of chromosome. In autosomal inheritance, a copy of a faulty gene from one parent can cause a condition ...

Retinitis pigmentosa (RP) is an eye condition that can be genetic. In this way, people usually need to inherit two copies of a genetic variation that causes RP, one coming from each parent. RP may ...

Hereditary hearing impairment is genetically heterogeneous, exhibiting patterns of inheritance that include: autosomal recessive, autosomal dominant, X-linked and mitochondrial. Nonsyndromic deafness ...

Some health problems are passed down through families. There are different ways this can happen. To have a child born with what’s called an “autosomal recessive disease” like sickle cell disease or ...