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Joubert syndrome 2

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene.
Uniprot Description A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. 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 retinal dystrophy and renal disease.
Disease Ontology Description A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2.
Mondo Term and Equivalent IDs
MONDO:0011963:  Joubert syndrome 2
GARD:0010167: 
MESH:C536294: 
UMLS:C1842577: