Metadata | |
---|---|
ID | DOID:0110991 |
Name | Joubert syndrome 22 |
Definition | A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37. https://www.ncbi.nlm.nih.gov/pubmed/24166846 |
Xrefs | |
Synonyms |
JBTS22 [EXACT] |
Parent Relationships |
is_a Joubert syndrome |