Metadata | |
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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 | |
Synonyms |
JBTS23 [EXACT] |
Parent Relationships |
is_a Joubert syndrome |