Disease Directory

Joubert syndrome is a rare condition that affects brain development. It involves a congenital malformation of the brainstem and issues with the cerebe...

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 INPP5...

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...

Joubert syndrome 11 is a rare disease. Detailed information about this condition is currently limited in medical literature.

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...

Joubert syndrome 14 is a rare genetic condition that is part of the Joubert syndrome family. It is specifically caused by a mutation in the TMEM237 ge...

Joubert syndrome 15 is a rare genetic condition that is part of the Joubert syndrome group. This condition is caused when there is a mutation in the C...

Joubert syndrome 16 is a rare form of Joubert syndrome caused by a mutation in the TMEM138 gene. The condition is recognized as one of several types o...

Joubert syndrome 17 is a type of Joubert syndrome that occurs due to a mutation in the CPLANE1 gene. This condition is one of several types of Joubert...

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 TCTN...

Joubert syndrome 19 is a rare disease. Detailed information about this condition is currently limited in medical literature.

Joubert syndrome 2 is a form of Joubert syndrome that occurs when there is a mutation in the TMEM216 gene. This condition is part of a group of disord...

Joubert syndrome 20 is a rare condition that is a part of the Joubert syndrome group. This particular form is caused by a mutation in the TMEM231 gene...

Joubert syndrome 21 is a rare genetic condition where a mutation in the CSPP1 gene leads to the development of the disease. It is one of the types of...

Joubert syndrome 22 is a rare genetic condition that is a type of Joubert syndrome. It is caused by a mutation in the PDE6D gene, which impacts normal...

Joubert syndrome 23 is a rare genetic condition that is part of the Joubert syndrome group. This condition is caused by a mutation in the KIAA0586 gen...

Joubert syndrome 24 is a type of Joubert syndrome that occurs due to a mutation in the TCTN2 gene. Joubert syndrome is a rare condition that affects b...

Joubert syndrome 25 is a form of Joubert syndrome where the cause is a mutation in the CEP104 gene. Joubert syndrome refers to a group of conditions t...

Joubert syndrome 26 is a rare genetic condition that is part of the Joubert syndrome spectrum. It is defined by a mutation in the KIAA0556 gene, which...

Joubert syndrome 27 is a type of Joubert syndrome that is caused by a mutation in the B9D1 gene. Joubert syndrome is a group of rare, genetic disorder...