| Metadata | |
|---|---|
| ID | DOID:0061337 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061337 Copy |
| Name | Joubert syndrome 35 |
| Definition | A Joubert syndrome that is characterized by brain malformations that result in developmental delay, oculomotor apraxia, and hypotonia and that has_material_basis_in homozygous mutation in the ARL3 gene on chromosome 10q24.32. https://pubmed.ncbi.nlm.nih.gov/30269812/ |
| Xrefs | |
| SKOS |
narrowMatch ORDO:475 |
| Synonyms |
JBTS35 [EXACT] |
| Parent Relationships |
is_a Joubert syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |