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Metadata
ID DOID:0110994
Name Joubert syndrome 25
Definition A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36.
https://www.ncbi.nlm.nih.gov/pubmed/26477546
Xrefs

OMIM:616781

Synonyms

JBTS25 [EXACT]

Parent Relationships

is_a Joubert syndrome

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