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Kahrizi syndrome
Summary
- Synonym
-
- KHRZ
- intellectual disability, Kahrizi type
- intellectual disability-cataract-coloboma-kyphosis syndrome
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0050807
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001270 | Motor delay |
| HP:0000431 | Wide nasal bridge |
| HP:0004322 | Short stature |
| HP:0000329 | Facial hemangioma |
| HP:0003577 | Congenital onset |
| HP:0010864 | Intellectual disability, severe |
| HP:0000612 | Iris coloboma |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002942 | Thoracic kyphosis |
| HP:0006380 | Knee flexion contracture |
