Microcephaly, Short Stature, And Impaired Glucose Metabolism 2; Mssgm2

Clinical Features

Top most frequent phenotypes and symptoms related to Microcephaly, Short Stature, And Impaired Glucose Metabolism 2; Mssgm2

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Sensorineural hearing impairment
  • Cryptorchidism
  • Spasticity

And another 45 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.

Microcephaly, Short Stature, And Impaired Glucose Metabolism 2; Mssgm2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Microcephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

STIL, SLC1A4, SLC2A1, SLC9A6, SOX11, PLK4, CDKL5, TCF4, UBE3A, USP18, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, NIN, PPP1R15B, CASK, TSEN34, ZNF335 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
PPP1R15B.

By Fulgent Genetics Fulgent Genetics (United States).

PPP1R15B
Specificity
100 %
Genes
100 %

You can get up to -5 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

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