Metadata | |
---|---|
ID | DOID:0110997 |
Name | Joubert syndrome 28 |
Definition | A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23. https://www.ncbi.nlm.nih.gov/pubmed/24886560 |
Xrefs | |
Synonyms |
JBTS28 [EXACT] |
Parent Relationships |
is_a Joubert syndrome |