Mental Retardation, Autosomal Dominant 51; Mrd51

Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation, Autosomal Dominant 51; Mrd51

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cryptorchidism
  • Delayed speech and language development
  • Motor delay
  • Epicanthus
  • Macrocephaly

And another 13 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.

Mental Retardation, Autosomal Dominant 51; Mrd51 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 via KMT5B (SUV420H1) Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

KMT5B
Specificity
100 %
Genes
100 %
KMT5B.

By Fulgent Genetics Fulgent Genetics (United States).

KMT5B
Specificity
100 %
Genes
100 %
SUV420H1.

By Fulgent Genetics Fulgent Genetics (United States).

KMT5B
Specificity
100 %
Genes
100 %
Autism Spectrum Disorders Panel.

By Blueprint Genetics (Finland).

RPL10, TCF20, TRIP12, TSC1, TSC2, BCL11A, CACNA1C, NSD1, NLGN4X, NLGN3, SHANK3, ADNP, POGZ, CNTN6, COL4A3BP, KMT5B, CTNND2, PTCHD1, DHCR7, CC2D1A , (...)

View the complete list with 6 more genes
Specificity
4 %
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 %

You can get up to -2 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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