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Metadata
ID DOID:0110982
Name Joubert syndrome 13
Definition A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24.
https://www.ncbi.nlm.nih.gov/pubmed/21725307
Xrefs

OMIM:614173

Synonyms

JBTS13 [EXACT]

Parent Relationships

is_a Joubert syndrome

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