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Hypotonia-failure to thrive-microcephaly syndrome

^ http://www.orpha.net/ORDO/Orphanet_79507


Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.

Synonyms: LTC4 synthase deficiency, Leukotriene C4 synthase deficiency

Term info

database cross reference
  • UMLS:C3279662 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:614037 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

OMIM:614037, UMLS:C3279662

notation

ORPHA:79507