toIPA
Home
Blog
Category
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
/ˌlukəˈtraɪin ˈsiˈfɔr ˈsɪnˌθeɪz dəˈfɪʃənsi/
/ˌluːkəʊˈtrʌɪiːn C4 ˈsɪnθeɪz dɪˈfɪʃənsi/
Categories
disease
inherited metabolic disorder
rare disease