Joubert syndrome 13

Joubert syndrome 13 is a rare condition that is a part of the Joubert syndrome group. This condition is identified by changes in the TCTN1 gene. It is one of several types of Joubert syndrome which are characterized by certain brain and developmental features. People with this condition may share some similarities with other forms of Joubert syndrome but are specifically affected by a mutation in the TCTN1 gene. The condition is known under several names including JBTS13, Joubert syndrome caused by mutation in TCTN1, Joubert syndrome type 13, and TCTN1 Joubert syndrome. This variety of names helps identify the specific genetic cause and distinguishes it from other types. Further research is continuing to advance the understanding of how this gene mutation affects the health and development of those with the condition.

Information about symptoms is currently limited for this condition.

Joubert syndrome 13 is caused by a mutation in the TCTN1 gene. Changes or mutations in this gene affect how the gene functions. This alteration is the primary cause leading to the condition. The role of the TCTN1 gene helps in understanding the genetic cause of the syndrome.

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

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

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