Term Name: | Kahrizi syndrome |
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Synonyms: | intellectual disability, Kahrizi type, intellectual disability-cataract-coloboma-kyphosis syndrome, KHRZ |
Definition: | A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene. |
Ontology: | Human Disease [DOID:0050807] ( DOID:0050807 ) |