Metadata | |
---|---|
ID | DOID:0110996 |
Name | Joubert syndrome 27 |
Definition | A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11. https://www.ncbi.nlm.nih.gov/pubmed/24886560 |
Xrefs | |
Synonyms |
JBTS27 [EXACT] |
Parent Relationships |
is_a Joubert syndrome |