/Joubert syndrome 2

Joubert syndrome 2

Rare Disease

MONDO:0011963

Also Known As

CORS2JBTS2Joubert syndrome 2Joubert syndrome caused by mutation in TMEM216Joubert syndrome type 2TMEM216 Joubert syndromecerebellooculorenal syndrome 2Cerebellooculorenal syndrome 2

Definition

Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene.

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Associated Genes

TMEM216 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:608091 ↗

GARD

GARD:10167 ↗

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