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Joubert syndrome 1

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E 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.
Mondo Term and Equivalent IDs
MONDO:0008944:  Joubert syndrome 1
UMLS:CN119531: