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leukotriene C4 synthase deficiency (LTC4 synthase deficiency)
Pathology:
- fatal neurometabolic developmental disorder
Genetics:
- associated with defects in LTC4S
Clinical manifestations:
- muscular hypotonia
- psychomotor retardation
- failure to thrive
- microcephaly
General
lipid metabolism, inborn error; lipid storage disease; lipidosis
Database Correlations
OMIM 246530
References
OMIM :accession 246530