Moebius Syndrome

Table of contents:

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

Description

Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.

Genes related to Moebius Syndrome

REV3L
PLXND1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Moebius Syndrome

Hearing impairment
Micrognathia
Strabismus
Muscular hypotonia
Cleft palate
Ptosis
High palate
Visual impairment
Motor delay
Epicanthus

And another 31 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

Moebius Syndrome Is also known as mÖbius syndrome, congenital facial diplegia.

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.

Moebius Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mental Retardation and Dysmorphology - panels. By MGZ Medical Genetics Center (Germany). RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...) View the complete list with 322 more genes Panel complete gene list RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, KDM5C, SMPD1, SMS, SOS1, SOS2, SOX10, SOX3, CDKL5, SYN1, SYNGAP1, SYP, TBX3, TBX5, TCF4, TCOF1, TFAP2A, TIMM8A, TSPAN7, MED12, TRPS1, TSC1, TSC2, TWIST1, UBE2A, UBE3A, KDM6A, WNT5A, KAT6A, ZMYM3, ZNF41, ZNF711, ZNF81, ACTB, BCL11A, LMBR1, FTSJ1, HDAC8, MCOLN1, NSDHL, DCHS1, CTCF, CNTNAP2, FOXP2, CACNG2, NSD1, RAB23, PCDH19, NLGN4X, NLGN3, ACTG1, NPC2, ARHGEF9, ZEB2, ALX1, CASK, SNX14, CBL, SHOC2, MBTPS2, CBS, SETBP1, CCND2, SALL4, TP63, RAB39B, UBR1, SRCAP, MLC1, WAC, BRWD3, CDH15, ZNF674, PORCN, CDKN1C, ARID1B, ARX, PHF6, ATP6AP2, SETD2, ZDHHC9, NAA10, THOC2, DOCK6, CHRNA7, CHD8, POLR1C, CLCN4, SPRED1, ZDHHC15, SUMF1, POLR1D, UPF3B, MBD5, CHD7, CLIC2, PHF8, BCOR, CUL7, TBC1D7, RNF135, ANKRD11, VPS13B, MED13L, PEX26, GNPTG, FAT4, A2ML1, CREBBP, MED23, TCTN3, C2CD3, KANSL1, EHMT1, SMC3, CTNNB1, CCDC8, RAB40AL, CUL4B, OFD1, LAS1L, CPLANE1, NFATC2IP, NSUN2, CTC1, HEPACAM, PTCHD1, HGSNAT, DCX, DDX3X, CCNQ, EOGT, DHCR7, DIS3L2, DHODH, NIPBL, MAGT1, DKC1, CCDC22, WDR45, WASHC5, DLG3, SPECC1L, IQSEC2, OBSL1, DLL4, SHROOM4, ARHGAP31, DMD, EPG5, NEXMIF, GPSM2, C12orf57, GNPTAB, DNMT3A, PACS1, STRADA, CRBN, CC2D1A, KIF7, TXNL4A, SRPX2, GATAD2B, TRAPPC9, DVL1, EFTUD2, HUWE1, DYRK1A, EDN3, EDNRA, EDNRB, AGL, EFNB1, EIF2B5, EIF2S3, EMD, EP300, EPB41L1, AGTR2, ERCC6, ERCC8, EZH2, ACSL4, FANCB, FGD1, FGFR1, FGFR2, FGFR3, FHL1, FLNA, FLNB, FMR1, AFF2, FOXG1, FOXP1, AKT1, AKT3, FUCA1, G6PC, SLC37A4, GAA, GALNS, GBA, GBE1, GDI1, GFAP, GK, GLB1, GLI3, GNAQ, GNAS, GNS, GPC3, ALX3, ALX4, TECR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GUSB, HSD17B10, HCCS, HCFC1, HERC2, HEXA, HEXB, ANK3, HOXD13, HPRT1, HRAS, IDH1, IDH2, IDS, IDUA, IGBP1, AP1S2, ABCC6, RBPJ, IKBKG, IL1RAPL1, ABCC9, INSR, IRF6, JAG1, KCNJ10, KLF8, KPTN, KRAS, L1CAM, LAMP2, LRP5, LZTR1, MAGEL2, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, ARHGEF6, MECP2, MEF2C, MID1, MITF, KMT2D, MTM1, TRIM37, ASPA, MYH7, NAGLU, NDP, NDUFA1, NF1, NFIX, NHS, NOG, NOTCH2, NPC1, NRAS, NRXN1, NXF5, OCRL, OPHN1, OTC, PAK3, PAX3, ATP7A, AIFM1, PDHA1, PEX1, PEX10, PEX12, PEX6, ATRX, KIF1A, PGK1, PHKA1, PHKA2, PHKB, PHKG2, PIK3CA, PIK3R2, PITX1, PLP1, PLXND1, POR, PQBP1, PRPS1, PTCH1, PTEN, PTPN11, PEX2, PYGL, PYGM, RAD21, RAF1, RAI1, RASA1, RASA2, RBM10, RECQL4, REV3L Specificity 1 % Genes 100 %
Syndromal Diseases - panels. By MGZ Medical Genetics Center (Germany). RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...) View the complete list with 321 more genes Panel complete gene list RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, KDM5C, SMPD1, SMS, SOS1, SOS2, SOX10, SOX3, CDKL5, SYN1, SYNGAP1, SYP, TBX3, TBX5, TCF4, TCOF1, TFAP2A, TIMM8A, TSPAN7, MED12, TRPS1, TSC1, TSC2, TWIST1, UBE2A, UBE3A, KDM6A, WNT5A, KAT6A, ZMYM3, ZNF41, ZNF711, ZNF81, ACTB, BCL11A, LMBR1, FTSJ1, HDAC8, MCOLN1, NSDHL, DCHS1, CTCF, CNTNAP2, FOXP2, CACNG2, NSD1, RAB23, PCDH19, NLGN4X, NLGN3, ACTG1, NPC2, ARHGEF9, ZEB2, ALX1, CASK, SNX14, CBL, SHOC2, MBTPS2, CBS, SETBP1, CCND2, SALL4, TP63, RAB39B, UBR1, SRCAP, MLC1, WAC, BRWD3, CDH15, ZNF674, PORCN, CDKN1C, ARID1B, ARX, PHF6, ATP6AP2, SETD2, ZDHHC9, NAA10, THOC2, DOCK6, CHRNA7, CHD8, POLR1C, CLCN4, SPRED1, ZDHHC15, SUMF1, POLR1D, UPF3B, MBD5, CHD7, CLIC2, PHF8, BCOR, CUL7, TBC1D7, RNF135, ANKRD11, VPS13B, MED13L, PEX26, GNPTG, FAT4, A2ML1, CREBBP, MED23, TCTN3, C2CD3, KANSL1, EHMT1, SMC3, CTNNB1, CCDC8, RAB40AL, CUL4B, OFD1, LAS1L, CPLANE1, NFATC2IP, NSUN2, HEPACAM, PTCHD1, HGSNAT, DCX, DDX3X, CCNQ, EOGT, DHCR7, DIS3L2, DHODH, NIPBL, MAGT1, DKC1, CCDC22, WDR45, WASHC5, DLG3, SPECC1L, IQSEC2, OBSL1, DLL4, SHROOM4, ARHGAP31, DMD, EPG5, NEXMIF, GPSM2, C12orf57, GNPTAB, DNMT3A, PACS1, STRADA, CRBN, CC2D1A, KIF7, TXNL4A, SRPX2, GATAD2B, TRAPPC9, DVL1, EFTUD2, HUWE1, DYRK1A, EDN3, EDNRA, EDNRB, AGL, EFNB1, EIF2B5, EIF2S3, EMD, EP300, EPB41L1, AGTR2, ERCC6, ERCC8, EZH2, ACSL4, FANCB, FGD1, FGFR1, FGFR2, FGFR3, FHL1, FLNA, FLNB, FMR1, AFF2, FOXG1, FOXP1, AKT1, AKT3, FUCA1, G6PC, SLC37A4, GAA, GALNS, GBA, GBE1, GDI1, GFAP, GK, GLB1, GLI3, GNAQ, GNAS, GNS, GPC3, ALX3, ALX4, TECR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GUSB, HSD17B10, HCCS, HCFC1, HERC2, HEXA, HEXB, ANK3, HOXD13, HPRT1, HRAS, IDH1, IDH2, IDS, IDUA, IGBP1, AP1S2, ABCC6, RBPJ, IKBKG, IL1RAPL1, ABCC9, INSR, IRF6, JAG1, KCNJ10, KLF8, KPTN, KRAS, L1CAM, LAMP2, LRP5, LZTR1, MAGEL2, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, ARHGEF6, MECP2, MEF2C, MID1, MITF, KMT2D, MTM1, TRIM37, ASPA, MYH7, NAGLU, NDP, NDUFA1, NF1, NFIX, NHS, NOG, NOTCH2, NPC1, NRAS, NRXN1, NXF5, OCRL, OPHN1, OTC, PAK3, PAX3, ATP7A, AIFM1, PDHA1, PEX1, PEX10, PEX12, PEX6, ATRX, KIF1A, PGK1, PHKA1, PHKA2, PHKB, PHKG2, PIK3CA, PIK3R2, PITX1, PLP1, PLXND1, POR, PQBP1, PRPS1, PTCH1, PTEN, PTPN11, PEX2, PYGL, PYGM, RAD21, RAF1, RAI1, RASA1, RASA2, RBM10, RECQL4, REV3L Specificity 1 % Genes 100 %
REV3L. By Fulgent Genetics Fulgent Genetics (United States). REV3L Specificity 100 % Genes 50 %
PLXND1. By Fulgent Genetics Fulgent Genetics (United States). PLXND1 Specificity 100 % Genes 50 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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