Kahrizi syndrome

info · Syndrome

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.

Signs and symptoms

Wide nasal bridge
Short stature
Motor delay
Severe intellectual disability
Knee flexion contracture
Cataract
Thick vermilion border
Bulbous nose
Thoracic kyphosis
Elbow contracture

Also known as: KHRZ; intellectual disability, Kahrizi type; intellectual disability-cataract-coloboma-kyphosis syndrome