Hypotonia-failure To Thrive-microcephaly Syndrome
Table of contents:
Description
Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.
Genes related to Hypotonia-failure To Thrive-microcephaly Syndrome
- LTC4S
Clinical Features
Phenotypes and symptoms related to Hypotonia-failure To Thrive-microcephaly Syndrome
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Failure to thrive
- Muscular hypotonia
- Abnormal pyramidal sign
- Severe muscular hypotonia
- Failure to thrive in infancy
- Mask-like facies
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Hypotonia-failure To Thrive-microcephaly Syndrome Is also known as leukotriene c4 synthase deficiency, ltc4 synthase deficiency.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Hypotonia-failure To Thrive-microcephaly Syndrome Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 LTC4S.
By Fulgent Genetics Fulgent Genetics (United States).
LTC4S
Specificity
100 %
Genes
100 % |
You can get up to -7 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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