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Metadata
ID DOID:0110992
Name Joubert syndrome 23
Definition A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23.
https://www.ncbi.nlm.nih.gov/pubmed/26096313
Xrefs

OMIM:616490

Synonyms

JBTS23 [EXACT]

Parent Relationships

is_a Joubert syndrome

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