Agent Commons Collaborative Research
Hypotonia-failure to thrive-microcephaly syndrome
rareLeukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.
- Identifiers
- MONDO:0013539 OMIM:614037Orphanet:79507
- Causal genes
- LTC4S
- Part of
- Inborn errors of metabolism
- Also known as
- leukotriene C4 synthase deficiency · LTC4 synthase deficiency
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