cataract-hypertrichosis-intellectual disability syndrome
Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0019280
hypertrichosis
is_a
MONDO:0019287
ectodermal dysplasia syndrome
is_a
CAHMR syndrome
exact
cataract, hypertrichosis, mental retardation syndrome
related