Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay; Srmmd

Clinical Features

Top most frequent phenotypes and symptoms related to Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay; Srmmd

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Cataract
  • Cryptorchidism

And another 22 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.

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.

Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay; Srmmd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ARCN1.

By Fulgent Genetics Fulgent Genetics (United States).

ARCN1
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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