hypotonia-failure to thrive-microcephaly syndrome
MONDO:0013539Mondo
Findings
No curated finding names hypotonia-failure to thrive-microcephaly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0013539), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Failure to thrive in infancyHPOHP:0001531
- Global developmental delayHPOHP:0001263
- HypotoniaHPOHP:0001252
- MicrocephalyHPOHP:0000252
- Reduced circulating leukotriene C4 concentrationHPOHP:0030390
Where it sits
- A kind of
Other names
2 names
Resolves to: hypotonia-failure to thrive-microcephaly syndrome
- Also called
- leukotriene C4 synthase deficiencyLTC4 synthase deficiency