| Metadata | |
|---|---|
| ID | DOID:0110995 |
| Name | Joubert syndrome 26 |
| Definition | A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12. https://www.ncbi.nlm.nih.gov/pubmed/26714646 |
| Xrefs | |
| Synonyms |
JBTS26 [EXACT] |
| Parent Relationships |
is_a Joubert syndrome |