Term Name: | Meckel syndrome 4 |
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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 ) |