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Joubert syndrome 16

Disease Summary
Associated Targets (1)


Mondo Description Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene.
Uniprot Description An autosomal recessive disorder characterized by oculomotor apraxia, variable coloboma, and rare kidney involvement. Neuroradiologically, it is characterized by an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and polydactyly.
Mondo Term and Equivalent IDs
MONDO:0013764:  Joubert syndrome 16