Metadata | |
---|---|
ID | DOID:0111003 |
Name | Joubert syndrome 8 |
Definition | A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2. https://www.ncbi.nlm.nih.gov/pubmed/18674751 |
Xrefs | |
Synonyms |
JBTS8 [EXACT] |
Parent Relationships |
is_a Joubert syndrome |