| Metadata | |
|---|---|
| ID | DOID:0061338 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061338 Copy |
| Name | Joubert syndrome 36 |
| Definition | A Joubert syndrome that is characterized by global developmental delay, ocular movement abnormalities, and mesoaxial polydactyly and that has_material_basis_in homozygous mutation in the FAM149B1 gene on chromosome 10q22.2. https://pubmed.ncbi.nlm.nih.gov/30905400/ |
| Xrefs | |
| SKOS |
narrowMatch ORDO:475 |
| Synonyms |
JBTS36 [EXACT] |
| Parent Relationships |
is_a Joubert syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |