Term Name: | Meckel syndrome 8 |
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Synonyms: | Meckel-Gruber syndrome, type 8, MKS8 |
Definition: | A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TCTN2 gene on chromosome 12q24.31. |
Ontology: | Human Disease [DOID:0070122] ( DOID:0070122 ) |