Kahrizi syndrome

Term ID

DOID:0050807

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. (2)

References

• MESH:C567196
• OMIM:612713
• ORDO:168972

Ontology

Human Disease   ( DOID:0050807 )