Mental Retardation, Autosomal Dominant 39; Mrd39

Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation, Autosomal Dominant 39; Mrd39

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Feeding difficulties
  • Delayed speech and language development
  • Obesity
  • Brachycephaly
  • Autism
  • Neonatal hypotonia
  • Aggressive behavior

And another 2 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.


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Mental Retardation, Autosomal Dominant 39; Mrd39 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BDNF, RPS6KA3, SCN2A, SCN8A, SLC16A2, SLC2A1, SLC6A8, SLC9A6, SMC1A, KDM5C, STXBP1, TBR1, TCF4, TSPAN7, TRIO, UBA7, UBE2A, ZNF711, BCL11A, FTSJ1 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
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 %
Intellectual Disability via MYT1L Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

MYT1L
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 %
MYT1L.

By Fulgent Genetics Fulgent Genetics (United States).

MYT1L
Specificity
100 %
Genes
100 %
Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes.

By Reference Laboratory Genetics (Spain).

RPS6KA3, ST3GAL3, SLC6A8, SMARCA4, SMARCB1, ARID1A, KDM5C, STXBP1, SYNGAP1, SYP, TAF2, TSPAN7, MED12, TRIO, VLDLR, ZBTB18, ZNF711, FTSJ1, ERLIN2, CA8 , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
100 %
Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes.

By Reference Laboratory Genetics (Spain).

SMARCA4, SMARCB1, ARID1A, SYNGAP1, TRIO, ZBTB18, CACNG2, DEAF1, SETBP1, ADNP, ZMYND11, CDH15, ARID1B, POGZ, MBD5, KIRREL3, KANSL1, EHMT1, CTNNB1, TBL1XR1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %

We have -1 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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