Mental Retardation-hypotonic Facies Syndrome, X-linked, 1; Mrxhf1

Table of contents:

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

Description

The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

Genes related to Mental Retardation-hypotonic Facies Syndrome, X-linked, 1; Mrxhf1

ATRX

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Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation-hypotonic Facies Syndrome, X-linked, 1; Mrxhf1

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia
Hearing impairment
Microcephaly
Growth delay
Hypertelorism
Micrognathia

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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-hypotonic Facies Syndrome, X-linked, 1; Mrxhf1 Is also known as smith-fineman-myers syndrome 1, chudley-lowry syndrome, holmes-gang syndrome, mental retardation, x-linked, with growth retardation, deafness, and microgenitalism, xlmr-hypotonic facies syndrome, carpenter-waziri syndrome, sfms, sfm1, jms, juberg-marsidi syndrome.

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-hypotonic Facies Syndrome, X-linked, 1; Mrxhf1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation. By Athena Diagnostics Inc (United States). SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...) View the complete list with 214 more genes Panel complete gene list SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SUCLA2, SYN1, SYNGAP1, SYNJ1, SYP, TBX1, TCF4, TREX1, TSC1, TSC2, TUBA8, UBE3A, WWOX, SLC4A10, CNTNAP2, CACNA1A, CACNA1H, CACNA2D1, CACNA2D2, CACNB4, PCDH19, SLC25A19, ARHGEF9, DEAF1, ZEB2, CASK, CASR, SETBP1, ALG9, ARFGEF2, PANK2, PLCB1, SAMHD1, DNAJC5, SLC19A3, EFHC1, LIAS, RAB39B, SCARB2, HCN4, BCKDK, PRICKLE1, RAB3GAP1, CPA6, CENPJ, ADGRV1, NDE1, FKRP, ARX, SPATA5, PHF6, RBFOX1, ATP6AP2, PRIMA1, SETD2, DEPDC5, ATP6V0A2, RNASEH2A, STX1B, KCNT1, MAGI2, ASPM, VPS13A, POMGNT1, CHD2, DOCK7, CHRNA2, CHRNA4, CHRNA7, CHRNB2, POMT2, SLC25A22, PRICKLE2, MBD5, L2HGDH, TPP1, CLN3, CLN5, TUBA1A, CLN6, CLN8, ANKRD11, NHLRC1, BRAT1, VPS13B, KCTD7, COL4A1, ABAT, SLC13A5, PIGO, CPT2, KIF1BP, CRH, RNASEH2C, WDR62, KANSL1, SMC3, CSTB, CTSD, CTSF, CUL4B, OFD1, RNASEH2B, PIGV, CYP27A1, DCX, TSEN54, MFSD8, NIPBL, WDR45, SZT2, IQSEC2, ADSL, TBC1D24, NEXMIF, ROGDI, TBL1XR1, DYNC1H1, DNM1, DPYD, ATP13A2, PNPO, PRRT2, SRPX2, TUBB2B, ALG13, DYRK1A, EEF1A2, EMX2, EPM2A, FKTN, FGD1, FGFR3, FLNA, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRD, GABRG2, GAMT, GATM, GFAP, GLDC, ALPL, GNAO1, GOSR2, GPC3, ADGRG1, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, AMT, HSD17B10, HCN1, HNRNPU, HPRT1, KCNA1, KCNA2, KCNB1, KCNC1, KCNH2, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, LAMA2, LARGE1, LBR, LGI1, LMNB2, MCPH1, MECP2, MEF2C, KMT2D, ASAH1, NDUFA1, NOTCH3, NR2F1, ATP1A2, NRXN1, ATP1A3, ATP2A2, OPHN1, PAFAH1B1, PAK3, PAX6, ALDH7A1, ATRX, PEX7, PHGDH, SERPINI1, PIGA, PIGN, PLA2G6, PLP1, PNKP, POLG, POMT1, PPT1, PQBP1, PURA, QARS, RAI1, RELN Specificity 1 % Genes 100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability. By Athena Diagnostics Inc (United States). SLC35A2, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS, SNAP25, CDKL5, SYN1, SYP, CACNA2D1, PCDH19, ARHGEF9, DEAF1, CASK, ALG9, RAB39B, BCKDK, ARX, SPATA5 , (...) View the complete list with 36 more genes Panel complete gene list SLC35A2, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS, SNAP25, CDKL5, SYN1, SYP, CACNA2D1, PCDH19, ARHGEF9, DEAF1, CASK, ALG9, RAB39B, BCKDK, ARX, SPATA5, PHF6, RBFOX1, ATP6AP2, SETD2, CHRNA7, ABAT, CUL4B, OFD1, DCX, WDR45, IQSEC2, ADSL, NEXMIF, DPYD, SRPX2, ALG13, DYRK1A, EEF1A2, FGD1, FOLR1, GABRB2, GAMT, GATM, GFAP, GPC3, GRIA3, GRIN2B, HSD17B10, HNRNPU, MECP2, OPHN1, PAK3, ATRX, PLP1, PQBP1, PURA Specificity 2 % Genes 100 %
Syndromic Autism Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...) View the complete list with 63 more genes Panel complete gene list SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1, PCDH19, NLGN4X, NLGN3, SHANK3, ZEB2, CASK, SETBP1, ADNP, RAB39B, UBE3C, BCKDK, SYNE1, ARID1B, ARX, PHF6, TMLHE, SETD2, CHD8, MBD5, CHD7, TUBA1A, VPS13B, KIRREL3, NTNG1, CREBBP, EHMT1, SMC3, CTNNB1, PTCHD1, DHCR7, NIPBL, TBL1XR1, DYRK1A, FGD1, TMEM231, FMR1, FOLR1, FOXG1, FOXP1, ALDH5A1, GABRB3, GRIN2B, AMT, HOXA1, HPRT1, AP1S2, L1CAM, LAMC3, MECP2, MEF2C, MID1, NHS, NRXN1, OPHN1, PAFAH1B1, ATRX, PNKP, PQBP1, PTEN, PTPN11, RAD21, RAI1, RELN Specificity 2 % Genes 100 %
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 %
Rett-Angelman Syndrome 2nd-Tier Sequencing Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SLC2A1, SLC9A6, CDKL5, TCF4, UBE3A, CNTNAP2, PCDH19, ZEB2, ARX, MBD5, EHMT1, CTNNB1, FOLR1, FOXG1, MECP2, MEF2C, NRXN1, OPHN1, ATRX, PNKP , (...) View the complete list with 1 more genes Panel complete gene list SLC2A1, SLC9A6, CDKL5, TCF4, UBE3A, CNTNAP2, PCDH19, ZEB2, ARX, MBD5, EHMT1, CTNNB1, FOLR1, FOXG1, MECP2, MEF2C, NRXN1, OPHN1, ATRX, PNKP, PQBP1 Specificity 5 % Genes 100 %
ATRX syndrome. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). ATRX Specificity 100 % Genes 100 %
Chudley-Lowry/Smith-Fineman-Meyers. By Center for Human Genetics, Inc (United States). ATRX Specificity 100 % Genes 100 %
Comprehensive Brain Malformation Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19 , (...) View the complete list with 86 more genes Panel complete gene list SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19, TMEM237, ZEB2, CASK, TSEN34, ARFGEF2, PCNT, RAB3GAP1, CDON, RAB3GAP2, CENPJ, EXOSC3, FKRP, ARX, PHF6, IER3IP1, CDK5RAP2, ASPM, POMGNT1, DISP1, POMT2, UPF3B, TUBA1A, TUBB3, RARS2, AHI1, COL4A1, KIF1BP, WDR62, TMEM216, ARL13B, CUL4B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, TMEM138, DCX, TSEN54, TMEM67, TSEN2, DHCR7, NIPBL, CEP290, DLL1, RPGRIP1L, CC2D2A, CEP152, KIF7, SRPX2, TUBB2B, EMX2, EOMES, EZH2, FKTN, FGF8, FLNA, FOXG1, FOXH1, GAS1, GLI2, GLI3, ADGRG1, HESX1, L1CAM, LAMC3, LARGE1, MCPH1, MECP2, MKS1, MYCN, NFIX, NODAL, NPHP1, OPHN1, OTX2, PAFAH1B1, ATR, ATRX, PIK3CA, POMT1, PQBP1, PTCH1, PTEN, RBBP8, RELN Specificity 1 % Genes 100 %

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Sources and references

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ORPHANET OMIM Genetic Syndrome Finder

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