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 )

Relationships
is a type of: autosomal recessive disease syndrome