/cataract-hypertrichosis-intellectual disability syndrome

cataract-hypertrichosis-intellectual disability syndrome

Rare Disease

MONDO:0008894

Also Known As

CAHMR syndromecataract, hypertrichosis, intellectual disability syndromecataract, hypertrichosis, mental retardation 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.