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Metadata
ID DOID:0110989
Name Joubert syndrome 20
Definition A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23.
https://www.ncbi.nlm.nih.gov/pubmed/23012439
Xrefs

OMIM:614970

Synonyms

JBTS20 [EXACT]

Parent Relationships

is_a Joubert syndrome

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