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Meckel syndrome 4
Summary
- Synonym
-
- MKS4
- Meckel-Gruber syndrome, type 4
- Definition
- A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32.
- Super Class
- Meckel syndrome
External Links
- Disease Ontology
- DOID:0070118
- Mondo Disease Ontology
- OMIM
