Mental Retardation, X-linked 93; Mrx93

Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation, X-linked 93; Mrx93

  • Intellectual disability
  • Generalized hypotonia
  • Muscular hypotonia
  • Cryptorchidism
  • Delayed speech and language development
  • Macrocephaly
  • Frontal bossing
  • Intellectual disability, mild
  • Kyphosis
  • Pectus excavatum

And another 9 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.

Alternative names

Mental Retardation, X-linked 93; Mrx93 Is also known as mental retardation, x-linked, with macrocephaly.

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, X-linked 93; Mrx93 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS XLID Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711 , (...)

View the complete list with 94 more genes
Specificity
1 %
Genes
100 %
X-Linked Intellectual Disabilities Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
X-linked Intellectual Disabilities Sequencing.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
100 %
Macrocephaly Deletion/Duplication Panel.

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

MED12, NSD1, RAB39B, BRWD3, SETD2, RIN2, UPF3B, TBC1D7, RNF125, RNF135, CUL4B, OFD1, HEPACAM, EZH2, GLI3, GPC3, HERC1, KPTN, NFIA, NFIX , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
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 %
X-linked Non-Specific Intellectual Disability Panel.

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

RPL10, RPS6KA3, SLC16A2, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS, CDKL5, SYN1, SYP, TSPAN7, MED12, UBE2A, ZNF41, ZNF711, ZNF81, FTSJ1, NSDHL, PCDH19 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Macrocephaly Sequencing Panel.

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

MED12, NSD1, RAB39B, BRWD3, SETD2, RIN2, UPF3B, TBC1D7, RNF125, RNF135, CUL4B, OFD1, HEPACAM, EZH2, GLI3, GPC3, HERC1, KPTN, NFIA, NFIX , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Search Engine

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