| 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 | |
| Synonyms |
JBTS25 [EXACT] |
| Parent Relationships |
is_a Joubert syndrome |