| Metadata | |
|---|---|
| ID | DOID:0110984 |
| Name | Joubert syndrome 15 |
| Definition | A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32. https://www.ncbi.nlm.nih.gov/pubmed/22246503 |
| Xrefs | |
| Synonyms |
JBTS15 [EXACT] |
| Parent Relationships |
is_a digenic disease is_a Joubert syndrome |