Metadata | |
---|---|
ID | DOID:0110990 |
Name | Joubert syndrome 21 |
Definition | A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13. https://www.ncbi.nlm.nih.gov/pubmed/24360808 |
Xrefs | |
Synonyms |
JBTS21 [EXACT] |
Parent Relationships |
is_a Joubert syndrome |