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 ...

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 ...

Von Willebrand disease (VWD) is a bleeding disorder in which the blood does not clot as it should. Usually, people have VWD due to their genes, which may come from a male or female parent. Blood ...

The genetic etiology for many forms of hearing impairment (HI) is very diverse. Non-syndromic HI (NSHI) is one of the most heterogeneous traits known. Autosomal recessive forms of prelingual HI ...

Blue diaper syndrome (BDS), also known as Drummond's Syndrome, is an extremely rare metabolic disorder, first described in 1964. It is a genetic disorder with an autosomal or x-linked recessive ...

Jervell and Lange Nielsen syndrome (JLNS) is a rare cardio-auditory disorder with an autosomal recessive pattern of inheritance. JLNS was first reported in Norway in 1957. Bilateral sensorineural ...