Kahrizi syndrome
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
KHRZ
related
Kahrizi syndrome
exact
mental retardation, cataract, coloboma, and kyphosis, autosomal recessive
related
SPAC7D4.09c