hypotonia-failure to thrive-microcephaly syndrome
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
LTC4 synthase deficiency
exact
leukotriene C4 synthase deficiency
exact