Disease Directory

Joubert syndrome 28 is a rare genetic condition that is part of the Joubert syndrome family. It is caused by a mutation in the MKS1 gene. Joubert synd...

Joubert syndrome 29 is a rare disease. Detailed information about this condition is currently limited in medical literature.

Joubert syndrome 3 is a rare condition that is part of the Joubert syndrome family. It is specifically caused by changes in the AHI1 gene, which is im...

Joubert syndrome 30 (also known as JBTS30) is a rare genetic condition. Information about the overall definition and detailed clinical presentation is...

Joubert syndrome 31, also known as JBTS31, is a rare genetic disorder. Detailed information about the overall clinical presentation and progression of...

Joubert syndrome 32, also known as JBTS32, is a rare condition that is part of the group of disorders referred to as Joubert syndrome. Conditions in t...

Joubert syndrome 33 (JBTS33) is a rare condition that is recognized in scientific literature through its association with the PIBF1 gene and its OMIM...

Joubert syndrome 34 is a rare disease. Detailed information about this condition is currently limited in medical literature.

Information about Joubert syndrome 35 is currently limited for this condition. At this time, there is not enough detailed information available to pro...

Joubert syndrome 36 is a rare genetic condition. Information about this condition is currently limited, but it has been documented with the OMIM ident...

Joubert syndrome 37 (also known as JBTS37) is a rare condition that has been linked to changes in the TOGARAM1 gene. Information about the overall cli...

Joubert syndrome 38 (also known as JBTS38) is a rare genetic condition. Information about its overall features and definition is currently limited. It...

Joubert syndrome 39 (JBTS39) is a rare genetic condition that is recognized in medical databases. Information about the overall characteristics of thi...

Joubert syndrome 40, also known as JBTS40, is a rare genetic condition. Although a detailed definition is not available, resources indicate that this...

Joubert syndrome 5 is a rare form of Joubert syndrome that is caused by a mutation in the CEP290 gene. This condition is part of a group of disorders...

Joubert syndrome 6 is a rare inherited condition that is part of the Joubert syndrome family of disorders. This condition is caused by mutations in th...

Joubert syndrome 7 is a form of Joubert syndrome that is caused by a mutation in the RPGRIP1L gene. It is one of a group of conditions under the Joube...

Joubert syndrome 8 is a rare genetic disorder that is part of the Joubert syndrome spectrum. This condition is specifically caused by a mutation in th...

Joubert syndrome 9 is a rare condition that is caused by a mutation in the CC2D2A gene. It is one of the forms of Joubert syndrome and has several syn...

Joubert syndrome and related disorders (JSRD) are a group of conditions that involve developmental delay and multiple congenital anomalies. A key find...