Warsaw Breakage Syndrome

Description

A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations

Clinical Features

Top most frequent phenotypes and symptoms related to Warsaw Breakage Syndrome

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape
  • High palate

And another 25 symptoms. If you need more information about this disease we can help you.

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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

Warsaw Breakage Syndrome Is also known as wabs.

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.

Warsaw Breakage Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Warsaw breakage syndrome.

By Centogene AG - the Rare Disease Company (Germany).

DDX11
Specificity
100 %
Genes
100 %
DDX11.

By Fulgent Genetics Fulgent Genetics (United States).

DDX11
Specificity
100 %
Genes
100 %

You can get up to -6 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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