hypotonia-failure to thrive-microcephaly syndrome
LTC4 synthase deficiency
exact
leukotriene C4 synthase deficiency
exact
Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.
MONDO:0019052
inborn errors of metabolism
is_a