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Leukotriene c4 synthase deficiency
Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly
Pronunciation
/ˌluːkəʊˈtrʌɪiːn C4 ˈsɪnθeɪz dɪˈfɪʃənsi/
/ˌlukəˈtraɪin ˈsiˈfɔr ˈsɪnˌθeɪz dəˈfɪʃənsi/
Categories
disease
inherited metabolic disorder
rare disease