| Metadata | |
|---|---|
| ID | DOID:0070122 |
| Name | Meckel syndrome 8 |
| Definition | A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TCTN2 gene on chromosome 12q24.31. https://www.ncbi.nlm.nih.gov/pubmed/21462283 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Meckel-Gruber syndrome, type 8 [EXACT] MKS8 [EXACT] |
| Parent Relationships |
is_a Meckel syndrome |