Mental Retardation, Autosomal Recessive 56; Mrt56

Clinical Features

Phenotypes and symptoms related to Mental Retardation, Autosomal Recessive 56; Mrt56

  • Intellectual disability

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 Recessive 56; Mrt56 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago (United States).

RPS6KA3, CLIP1, SCN2A, ST3GAL3, SLC16A2, SLC25A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX11, CDKL5, STXBP1, SYN1, SYNGAP1, SYP , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
Autosomal Recessive Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago (United States).

ST3GAL3, SLC25A1, STXBP1, VLDLR, ERLIN2, CA8, CNTNAP2, ARFGEF2, PCNT, L2HGDH, ZC3H14, VPS13B, ALG6, MED23, NSUN2, D2HGDH, DDHD2, ZNF526, C12orf57, CRBN , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
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 %
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 %
ZC3H14.

By Fulgent Genetics Fulgent Genetics (United States).

ZC3H14
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 Recessive Mental Retardation, Panel Massive Sequencing (NGS) 32 Genes.

By Reference Laboratory Genetics (Spain).

ST3GAL3, STXBP1, TAF2, VLDLR, ERLIN2, CA8, CNTNAP2, FMN2, ZC3H14, CRADD, MED23, NSUN2, TTI2, WASHC4, SOBP, CRBN, CC2D1A, TUSC3, TRAPPC9, LINS1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %

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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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