| Metadata | |
|---|---|
| ID | DOID:0070118 |
| Name | Meckel syndrome 4 |
| Definition | A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32. https://www.ncbi.nlm.nih.gov/pubmed/17564974 |
| Xrefs | |
| Synonyms |
Meckel-Gruber syndrome, type 4 [EXACT] MKS4 [EXACT] |
| Parent Relationships |
is_a Meckel syndrome |