Joubert syndrome 18

Joubert syndrome 18 is a rare genetic condition that is part of the Joubert syndrome spectrum. It is defined by the presence of a mutation in the TCTN3 gene which leads to this specific form of the disorder. Individuals with this condition experience characteristics that place it within the group of Joubert syndromes, although detailed clinical features can vary. This summary highlights that Joubert syndrome 18 is caused by a mutation in the TCTN3 gene, distinguishing it from other types of Joubert syndrome. Further research is ongoing to better understand the full range of symptoms and variations in clinical presentation among people with this condition.

Information about symptoms is currently limited for this condition.

Joubert syndrome 18 is caused by a mutation in the TCTN3 gene. Genetic changes in TCTN3 interfere with normal development, which is a key factor in the development of this condition. It is one of several genetic subtypes of Joubert syndrome, and its identification relies on genetic testing for the TCTN3 gene.

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.