Autoszomális recesszív
A disorder of cholesterol synthesis caused by changes in both copies of DHCR7, with a wide range of severity including growth problems, intellectual disability, characteristic malformations and cataracts.
Mit változtat a diagnózis
Cholesterol supplementation is commonly used, and carrier status is relevant to family planning.
Vizsgált gének
Más néven
7-dehydrocholesterol reductase deficiency; polydactyly, sex reversal, renal hypoplasia, and unilobular lung; RSH syndrome; Rutledge lethal multiple congenital anomaly syndrome; SLO syndrome; SLOS
