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hypotonia-failure to thrive-microcephaly syndrome

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description 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 Term and Equivalent IDs
MONDO:0013539:  hypotonia-failure to thrive-microcephaly syndrome
MESH:C565439: 
Orphanet:79507: 
SCTID:717185008: 
UMLS:C3279662: