Hypotonia-failure To Thrive-microcephaly Syndrome

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.

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

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.


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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 %

We have -7 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

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