Bardet-Biedl syndrome 14

Bardet-Biedl syndrome 14 is a condition that falls within a group of disorders known as Bardet-Biedl syndromes. It has a material basis in a homozygous mutation in the CEP290 gene located on chromosome 12q21. This genetic change plays a key role in the development of the condition. People with this condition have a genetic mutation in the CEP290 gene, which is important for proper cellular function. Details about the full range of features remain to be fully described, and additional research may provide more information about the typical presentation and progression of this syndrome.

Information about symptoms is currently limited for this condition.

Bardet-Biedl syndrome 14 is caused by a homozygous mutation in the CEP290 gene on chromosome 12q21. This genetic mutation disrupts the normal function of the gene, playing a central role in the development of the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.