Squalene Synthase Deficiency (SQSD)

Squalene Synthase Deficiency, also known as neurodevelopmental disorder with low cholesterol and abnormal urine organic acids, is related to chromosome 2q35 duplication syndrome and smith-lemli-opitz syndrome. An important gene associated with Squalene Synthase Deficiency is FDFT1 (Farnesyl-Diphosphate Farnesyltransferase 1), and among its related pathways/superpathways is 8p23.1 copy number variation syndrome. Affiliated tissues include brain and skin, and related phenotypes are seizure and constipation