Metadata | |
---|---|
ID | DOID:0110998 |
Name | Joubert syndrome 3 |
Definition | A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3. https://www.ncbi.nlm.nih.gov/pubmed/15322546 |
Xrefs | |
Synonyms |
JBTS3 [EXACT] |
Parent Relationships |
is_a Joubert syndrome |