| Term Name: | Kahrizi syndrome |
|---|---|
| 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 ) |