Mental Retardation, Autosomal Dominant 52; Mrd52

Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation, Autosomal Dominant 52; Mrd52

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Strabismus

And another 30 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 52; Mrd52 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 %
Autism Spectrum Disorders/Intellectual Disability via ASH1L Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ASH1L
Specificity
100 %
Genes
100 %
ASH1L.

By Fulgent Genetics Fulgent Genetics (United States).

ASH1L
Specificity
100 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
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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