Cataract-hypertrichosis-intellectual disability syndrome
Cataract-hypertrichosis-intellectual disability syndrome
Definition
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.
Also known as CAHMR syndrome — per MONDO