Mental Retardation, Autosomal Dominant 50; Mrd50

Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation, Autosomal Dominant 50; Mrd50

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Abnormal facial shape
  • Feeding difficulties
  • Delayed speech and language development
  • Motor delay

And another 8 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

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.


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Mental Retardation, Autosomal Dominant 50; Mrd50 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Autism Spectrum Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SCN1A, SCN2A, SGSH, BRAF, SLC6A1, SLC9A6, SPAST, CDKL5, STXBP1, SYN2, TBR1, TCF20, TCF4, TSC1, TSC2, UBE3A, BCL11A, CNTNAP2, CACNA1C, CSMD1 , (...)

View the complete list with 85 more genes
Specificity
1 %
Genes
100 %
Congenital Heart Defects Panel.

By CeGaT GmbH (Germany).

SEMA3E, TBX1, TBX20, TBX3, TBX5, TFAP2B, TLL1, ZIC3, ACTC1, CRELD1, GATA5, ZFPM2, TAB2, ACVR2B, CFC1, CITED2, CHD7, MED13L, NKX2-5, CFAP53 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
NAA15.

By Fulgent Genetics Fulgent Genetics (United States).

NAA15
Specificity
100 %
Genes
100 %
Congenital Structural Heart Disease Panel.

By Blueprint Genetics (Finland).

BMPR2, SOS2, TBX1, TBX20, TBX5, TFAP2B, TLL1, ZIC3, ACTA2, ACTB, ADAMTS10, NSD1, ACTC1, ACTG1, CRELD1, CBL, GATA5, SALL4, ZFPM2, TAB2 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %

We have -4 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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