Hypotonia-failure to thrive-microcephaly syndrome
- Synonyms
- LTC4 SYNTHASE DEFICIENCY; Leukotriene c4 synthase deficiency
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (4 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of metabolism/homeostasis
- Reduced circulating leukotriene C4 concentration
Reduced circulating leukotriene C4 concentration
- MedGen UID: 1684684
- Concept ID: C5139109
- Finding: Finding
Abnormality of metabolism/homeostasis
- Reduced circulating leukotriene C4 concentration
- Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
- Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
- Growth abnormality
- Failure to thrive in infancy
Failure to thrive in infancy
- MedGen UID: 358083
- Concept ID: C1867873
- Finding: Finding
Growth abnormality
- Failure to thrive in infancy
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