Mental Retardation, X-linked 21; Mrx21

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

This form of nonsyndromic X-linked mental retardation is characterized by a spectrum of cognitive neurologic impairments or disabilities ranging from moderate mental retardation to high-functioning autism. Males are typically severely affected, but some carrier females may manifest milder deficits (summary by Piton et al., 2008).

Genes related to Mental Retardation, X-linked 21; Mrx21

IL1RAPL1

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Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation, X-linked 21; Mrx21

Intellectual disability
Seizures
Short stature
Generalized hypotonia
Hypertelorism
Strabismus
Macrocephaly
Intellectual disability, mild
Short nose
Obesity

And another 27 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 21; Mrx21 Is also known as mental retardation, x-linked 34, mrx34.

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, X-linked 21; Mrx21 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 Panel complete gene list RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711, ZNF81, FTSJ1, HDAC8, NSDHL, PCDH19, NLGN4X, NLGN3, WDR13, ARHGEF9, CASK, MBTPS2, RAB39B, BRWD3, PORCN, ARX, PHF6, ATP6AP2, ZDHHC9, NAA10, THOC2, CNKSR2, CLCN4, ZDHHC15, UPF3B, CLIC2, PHF8, BCOR, ZC4H2, RAB40AL, CUL4B, OFD1, LAS1L, PTCHD1, FAAH2, DCX, ZCCHC12, MAGT1, DKC1, CCDC22, FRMPD4, DLG3, IQSEC2, SHROOM4, DMD, NEXMIF, SRPX2, HUWE1, EBP, EIF2S3, AGTR2, ACSL4, FANCB, FGD1, FLNA, FMR1, AFF2, GDI1, GK, GPC3, GRIA3, GSPT2, HSD17B10, HCCS, HCFC1, HPRT1, IDS, IGBP1, AP1S2, IL1RAPL1, ABCD1, KLF8, L1CAM, LAMP2, MAOA, ARHGEF6, MECP2, MID1, MTM1, NDP, NDUFA1, NHS, OCRL, OGT, OPHN1, OTC, PAK3, ATP7A, CDK16, AIFM1, ATRX, PLP1, PQBP1, PRPS1, RBM10 Specificity 1 % Genes 100 %
X-Linked Mental Retardation Types 21/34 (IL1RAPL1). By Center for Human Genetics, Inc (United States). IL1RAPL1 Specificity 100 % 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 Panel complete gene list RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X, NLGN3, ARHGEF9, CASK, MBTPS2, RAB39B, BRWD3, PORCN, ARX, PHF6, ATP6AP2, ZDHHC9, NAA10, CNKSR2, ZDHHC15, UPF3B, CLIC2, PHF8, BCOR, CUL4B, OFD1, PTCHD1, DCX, DKC1, CCDC22, FRMPD4, DLG3, IQSEC2, SHROOM4, DMD, NEXMIF, HUWE1, ACSL4, FANCB, FGD1, FLNA, FMR1, AFF2, GDI1, GK, GPC3, GRIA3, HSD17B10, HCCS, HPRT1, IDS, IGBP1, AP1S2, IL1RAPL1, L1CAM, LAMP2, MAOA, MECP2, MID1, NDP, NDUFA1, NHS, OCRL, OPHN1, OTC, PAK3, ATP7A, PDHA1, ATRX, PGK1, PLP1, PQBP1, PRPS1, RBM10 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 Panel complete gene list RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X, NLGN3, ARHGEF9, CASK, MBTPS2, RAB39B, BRWD3, PORCN, ARX, PHF6, ATP6AP2, ZDHHC9, NAA10, CNKSR2, ZDHHC15, UPF3B, CLIC2, PHF8, BCOR, CUL4B, OFD1, PTCHD1, DCX, DKC1, CCDC22, FRMPD4, DLG3, IQSEC2, SHROOM4, DMD, NEXMIF, HUWE1, ACSL4, FANCB, FGD1, FLNA, FMR1, AFF2, GDI1, GK, GPC3, GRIA3, HSD17B10, HCCS, HPRT1, IDS, IGBP1, AP1S2, IL1RAPL1, L1CAM, LAMP2, MAOA, MECP2, MID1, NDP, NDUFA1, NHS, OCRL, OPHN1, OTC, PAK3, ATP7A, PDHA1, ATRX, PGK1, PLP1, PQBP1, PRPS1, RBM10 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 Panel complete gene list RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X, NLGN3, ARHGEF9, CASK, MBTPS2, RAB39B, BRWD3, PORCN, ARX, PHF6, ATP6AP2, ZDHHC9, NAA10, CNKSR2, ZDHHC15, UPF3B, CLIC2, PHF8, BCOR, CUL4B, OFD1, PTCHD1, DCX, DKC1, CCDC22, FRMPD4, DLG3, IQSEC2, SHROOM4, DMD, NEXMIF, HUWE1, FANCB, FGD1, FLNA, FMR1, AFF2, GDI1, GK, GPC3, GRIA3, HSD17B10, HCCS, HPRT1, IDS, IGBP1, AP1S2, IL1RAPL1, L1CAM, LAMP2, MAOA, MECP2, MID1, NDP, NDUFA1, NHS, OCRL, OPHN1, OTC, PAK3, ATP7A, PDHA1, ATRX, PGK1, PLP1, PQBP1, PRPS1, RBM10 Specificity 2 % 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 Panel complete gene list RPS6KA3, CLIP1, SCN2A, ST3GAL3, SLC16A2, SLC25A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX11, CDKL5, STXBP1, SYN1, SYNGAP1, SYP, TAF2, TCF4, TSPAN7, MED12, UBE2A, UBE3A, EZR, VLDLR, ZNF41, ZNF711, ZNF81, FTSJ1, KIF4A, NSDHL, ERLIN2, CTCF, CA8, CNTNAP2, CACNG2, FMN2, PCDH19, NLGN4X, NLGN3, SHANK3, SHANK2, ARHGEF9, DEAF1, ZEB2, CASK, ADNP, PCNT, RAB39B, FBXO31, ZMYND11, BRWD3, CDH15, ZNF674, ARID1B, ARX, PHF6, ATP6AP2, ZDHHC9, NAA10, ZNF407, ZDHHC15, UPF3B, MBD5, L2HGDH, ZC3H14, CLIC2, PHF8, TUBA1A, BCOR, VPS13B, ALG6, KIRREL3, CRADD, MED23, EHMT1, CTNNB1, ADAT3, CUL4B, SETD5, OFD1, PGAP1, NSUN2, TTI2, PTCHD1, METTL23, DCX, D2HGDH, MAGT1, CCDC22, FRMPD4, DLG3, IQSEC2, DDHD2, WASHC4, SHROOM4, SOBP, ZNF526, NEXMIF, C12orf57, DYNC1H1, DNMT3A, PACS1, CRBN, CC2D1A, TUSC3, SRPX2, GATAD2B, TRAPPC9, HUWE1, DYRK1A, LINS1, SLC6A17, EIF2S3, EPB41L1, AGTR2, ACSL4, FLNA, FMR1, AFF2, FOXG1, FOXP1, ALDH5A1, GDI1, TECR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, HSD17B10, HCFC1, ANK3, HPRT1, IDH2, IGBP1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, IL1RAPL1, KCNJ10, KLF8, KPTN, L1CAM, LRP2, MAN1B1, MAOA, ARHGEF6, MECP2, MEF2C, MID1, MID2, NDST1, NHS, NRXN1, NRXN2, OCRL, OPHN1, PAK3, PDHA1, ATRX, KIF1A, PLP1, PQBP1, PRPS1, PRSS12, PURA, RAI1 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 Panel complete gene list RPL10, RPS6KA3, SLC16A2, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS, CDKL5, SYN1, SYP, TSPAN7, MED12, UBE2A, ZNF41, ZNF711, ZNF81, FTSJ1, NSDHL, PCDH19, NLGN4X, NLGN3, ARHGEF9, CASK, RAB39B, BRWD3, ZNF674, ARX, PHF6, ATP6AP2, ZDHHC9, NAA10, ZDHHC15, UPF3B, CLIC2, PHF8, BCOR, CUL4B, OFD1, PTCHD1, DCX, MAGT1, CCDC22, FRMPD4, DLG3, IQSEC2, SHROOM4, NEXMIF, SRPX2, HUWE1, EIF2S3, AGTR2, ACSL4, FLNA, FMR1, AFF2, GDI1, GRIA3, HSD17B10, HCFC1, HPRT1, IGBP1, AP1S2, IL1RAPL1, KLF8, L1CAM, MAOA, ARHGEF6, MECP2, MID1, NHS, OCRL, OPHN1, PAK3, PDHA1, ATRX, PLP1, PQBP1, PRPS1 Specificity 2 % Genes 100 %
Mental retardation, X-linked type 21 (sequence analysis of IL1RAPL1 gene). By CGC Genetics (Portugal). IL1RAPL1 Specificity 100 % Genes 100 %

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Sources and references

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