Joubert syndrome 1

Joubert syndrome 1 is a rare genetic disorder that is a specific form of Joubert syndrome. This condition occurs when there is a mutation in the INPP5E gene. Joubert syndrome affects brain development and can influence a range of neurological functions. Although detailed information about the full range of symptoms is not provided, the condition is recognized as a distinct subset of Joubert syndrome based on its genetic cause.

Information about symptoms is currently limited for this condition.

Joubert syndrome 1 is caused by mutations in the INPP5E gene. This genetic alteration is the defining factor for this specific form of Joubert syndrome. More detailed information on additional risk factors is not available.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

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