| umls-concept:C0175694 | skos:definition | MSH: An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.,JABL: A syndrome with variable characteristics marked mainly by short stature, mental deficiency, microcephaly, postaxial polydactyly, cleft palate, cardiovascular defects, genital malformations, and other abnormalities associated with defective cholesterol metabolism. The fundamental biochemical abnormality appears to be a primary or secondary deficiency of 7-DHC-reductase (3-beta-hydroxysteroid-delta7-reductase causing deficient synthesis of cholesterol. Two types are recognized: Type I comprising the milder manifestations. Type II representing severe forms, consisting of male pseudohermaphroditism, polydactyly with frequent early lethality. The designation | lld:umls |
