Joubert syndrome 1

MONDO:0008944

Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene.

Also known as: CORS1, CPD4, INPP5E Joubert syndrome, JBTS1, Joubert syndrome 1, Joubert syndrome caused by mutation in INPP5E, Joubert syndrome type 1, cerebellooculorenal syndrome 1

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Broader categories

Disease (680) Hereditary disease (176) Syndromic disease (25) Human disease (14) Ciliopathy (2) Disease by molecular mechanism (2) Disease of genetic or genomic mechanism (2) Joubert syndrome (2) Disease by body system or component (0) Disease by developmental or physiological process (0)

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