Hypotonia-failure to thrive-microcephaly syndrome
Hypotonia-failure to thrive-microcephaly syndrome
Definition
Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.
Also known as leukotriene C4 synthase deficiency, LTC4 synthase deficiency — per MONDO