| Term Name: | Joubert syndrome 26 |
|---|---|
| Synonyms: | JBTS26 |
| 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. |
| Ontology: | Human Disease [DOID:0110995] ( DOID:0110995 ) |