| Metadata | |
|---|---|
| ID | DOID:0110993 |
| Name | Joubert syndrome 24 |
| Definition | A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24. https://www.ncbi.nlm.nih.gov/pubmed/21565611, https://www.ncbi.nlm.nih.gov/pubmed/25118024 |
| Xrefs | |
| Synonyms |
JBTS24 [EXACT] |
| Parent Relationships |
is_a Joubert syndrome |