Hypotonia-failure to thrive-microcephaly syndrome
ORPHA:79507· ICD-10 E88.8
Definition
Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal