| Term Name: | Meckel syndrome 4 |
|---|---|
| Synonyms: | Meckel-Gruber syndrome, type 4, MKS4 |
| Definition: | A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32. |
| Ontology: | Human Disease [DOID:0070118] ( DOID:0070118 ) |