Mental Retardation, Autosomal Dominant 49; Mrd49

Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation, Autosomal Dominant 49; Mrd49

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape
  • High palate
  • Delayed speech and language development
  • Depressed nasal bridge

And another 14 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Mental Retardation, Autosomal Dominant 49; Mrd49 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Autism Spectrum Disorders via TRIP12 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TRIP12
Specificity
100 %
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 %
TRIP12.

By Fulgent Genetics Fulgent Genetics (United States).

TRIP12
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 %

We have -4 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RIDDLE SYNDROME MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC; CMS7 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT HYPERCALCEMIA, INFANTILE, 2; HCINF2 BLOOD GROUP--LUTHERAN INHIBITOR; INLU ZIMMERMANN-LABAND SYNDROME 1; ZLS1 CHARGE SYNDROME

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more