Joubert syndrome 10

Joubert syndrome 10 is a rare condition that is part of the Joubert syndrome family. It is defined as any case of Joubert syndrome where the cause is a mutation in the OFD1 gene. This condition is sometimes known by several names, including JBTS10, Joubert syndrome type 10, and X-linked recessive Joubert syndrome caused by mutation in OFD1. The genetic mutation affects the development and function of parts of the brain that control balance and movement. Because Joubert syndrome 10 is tied to a specific genetic change, it is considered an inherited condition. The mutation in the OFD1 gene is the key factor in causing the condition. While the detailed effects of the mutation on the body are still being studied, understanding the role of the OFD1 gene helps guide current research into how changes in this gene affect neurological development.

Information about symptoms is currently limited for this condition.

Joubert syndrome 10 is caused by a mutation in the OFD1 gene. This genetic change disrupts normal development, and the condition follows an X-linked recessive pattern. This means that the mutation is on the X chromosome, which can have different effects in males and females. More detailed information about how these genetic changes lead to the full spectrum of the condition is still being studied.

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.