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Joubert syndrome 14

Disease Summary
Associated Targets (1)


Mondo Description Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene.
Uniprot Description An autosomal recessive disorder characterized by severe mental retardation, hypotonia, breathing abnormalities in infancy, and dysmorphic facial features. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include renal disease, abnormal eye movements, and postaxial polydactyly.
Mondo Term and Equivalent IDs
MONDO:0013745:  Joubert syndrome 14