Bardet-Biedl syndrome 13

Bardet-Biedl syndrome 13 is a form of Bardet-Biedl syndrome caused by a mutation in the MKS1 gene. This condition is part of a group of disorders known as ciliopathies, which affect the cilia—small structures on cells that help with various functions. Variation in the genetic cause, such as that found in MKS1, leads to this specific subtype of the syndrome. People with this condition may face several challenges related to multiple body systems. The description of the condition is based on a mutation in the MKS1 gene, and further details about its clinical features can be explored through genetic studies and research databases.

Information about symptoms is currently limited for this condition.

Bardet-Biedl syndrome 13 is caused by a mutation in the MKS1 gene. This genetic mutation leads to changes in the function of the protein made by the MKS1 gene. The condition is inherited, meaning it is passed on through families, though details about inheritance patterns are not fully described in the available information.

Information about treatment options and management approaches is currently limited for this condition.

Information about prognosis and quality of life considerations is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.