Metadata | |
---|---|
ID | DOID:0110987 |
Name | Joubert syndrome 18 |
Definition | A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24. https://www.ncbi.nlm.nih.gov/pubmed/22883145 |
Xrefs | |
Synonyms |
JBTS18 [EXACT] |
Parent Relationships |
is_a Joubert syndrome |