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

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

Cystic fibrosis (CF) is an autosomal recessive condition. This means that a person will have CF only if they receive the affected gene from both parents at conception. Share on Pinterest Dalibor ...

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 ...

The autosomal recessive cerebellar ataxias are a group of little known and often neglected diseases that are best understood by following a practical, multidisciplinary approach that focuses on ...

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 ...