Source:http://linkedlifedata.com/resource/umls/id/C0740342
NCI: A hereditary condition characterized by sparse and brittle hair, short stature, and mental retardation.,JABL: A trichothiodystrophy syndrome (sulfur-deficient brittle hair), short stature, mental deficiency poor sexual maturation, and infertility originally observed in the Amish kindred. This syndrome has the main characteristics of Tay syndrome (brittle hair, impaired intelligence, decreased fertility, and short stature), except for ichthyosis. Originally observed in an Amish family (hence its name) in Indiana, the syndrome was later reported in other groups, including a Moroccan family.,NCI: A rare, autosomal recessive inherited syndrome characterized by brittle hair, mental and physical retardation, and decreased fertility.