Kahrizi syndrome
KHRZ
related
Kahrizi syndrome
exact
mental retardation, cataract, coloboma, and kyphosis, autosomal recessive
related
An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene.
MONDO:0006025
autosomal recessive disease
is_a
SPAC7D4.09c