Metadata | |
---|---|
ID | DOID:0111001 |
Name | Joubert syndrome 6 |
Definition | A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22. https://www.ncbi.nlm.nih.gov/pubmed/17160906 |
Xrefs | |
Synonyms |
JBTS6 [EXACT] |
Parent Relationships |
is_a Joubert syndrome |