Mental Retardation, X-linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance

Description

X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation, X-linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus
  • Motor delay
  • Muscular hypotonia
  • Abnormal facial shape
And another 48 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Mental Retardation, X-linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability.

By Athena Diagnostics Inc in United States.

ADSL, HSD17B10, MECP2, ABAT, GAMT, GATM, ALG9, SLC9A6, SLC6A8, ARX, CDKL5, CHRNA7, PCDH19, PLP1, SMC1A, GPC3, DPYD, SLC35A2, FOLR1, GABRB2 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %
Syndromic Autism Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, STXBP1, TUBA1A, AMT, SLC9A6, ALDH5A1, TMLHE, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, FOXG1, MEF2C , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
100 %
NGS XLID Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, ARX , (...)

View the complete list with 94 more genes
Specificity
1 %
Genes
100 %
Rett-Angelman Syndrome 2nd-Tier Sequencing Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

UBE3A, MECP2, SLC9A6, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, FOLR1, MBD5, PQBP1, NRXN1, PNKP, TCF4, CNTNAP2, ATRX, OPHN1, ZEB2, EHMT1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

MTHFR, UBE3A, ADSL, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3, ARX , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
100 %
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance.

By Center for Human Genetics, Inc in United States.

OPHN1
Specificity
100 %
Genes
100 %
Autsim Panel.

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

FMR1, UBE3A, PTEN, ADSL, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
100 %
Comprehensive Brain Malformation Panel.

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

UBE3A, PTEN, TUBB3, CC2D2A, OTX2, TMEM67, NPHP1, CEP290, SHH, SLC25A19, MECP2, TUBA1A, RARS2, MRPS16, SLC9A6, MKS1, SOX2, HESX1, ARX, CDKL5 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Epilepsy/Seizure.

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

MTHFR, UBE3A, BTD, ADSL, MMACHC, ADGRV1, POLG, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %
X-Linked Intellectual Disabilities Deletion/Duplication.

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

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, ARX, CDKL5 , (...)

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 in United States.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, ARX, CDKL5 , (...)

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 in United States.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, SLC9A6, BCOR, NDUFA1, ARX, CDKL5, DMD , (...)

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

By Genetic Services Laboratory University of Chicago in United States.

UBE3A, MECP2, SLC9A6, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, FOLR1, MBD5, NRXN1, DYRK1A, PNKP, TCF4, CNTNAP2, ATRX, OPHN1, ZEB2, EHMT1
Specificity
5 %
Genes
100 %
Abnormal/Ambiguous Genitalia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

STAR, WT1, MKKS, CYP11B1, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, MKS1, CYP17A1, AR, ARX, CHD7, CREBBP, DHCR7, PTPN11, SRY, CDKN1C, FIG4 , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
OPHN1 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

OPHN1
Specificity
100 %
Genes
100 %
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

WT1, CYP11A1, HCCS, CYB5A, CYP17A1, AR, ARX, DHCR7, SRY, LHCGR, ATRX, OPHN1, SOX9, NR5A1, HSD17B3, SRD5A2, GATA4, B3GLCT, AKR1C2, DYNC2H1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, UBE3A, HSD17B10, OCRL, HPRT1, NHS, MECP2, IDH2, STXBP1, TUBA1A, TUSC3, ALG6, D2HGDH, PDHA1, MAOA, ACSL4, SLC9A6, BCOR, ALDH5A1, L2HGDH , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
OPHN1 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

OPHN1
Specificity
100 %
Genes
100 %
X-linked Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, HSD17B10, OCRL, HPRT1, NHS, MECP2, PDHA1, MAOA, ACSL4, SLC9A6, BCOR, SLC6A8, ARX, CDKL5, PCDH19, PLP1, SMC1A, L1CAM, DCX, PQBP1 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Cerebellar/Pontocerebellar Hypoplasia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBB3, TUBA1A, RARS2, VRK1, RELN, TUBA8, TSEN54, TUBB2B, OPHN1, CASK, EXOSC3, TSEN34, TSEN2, CHMP1A, VLDLR, CDK5, AMPD2, SEPSECS
Specificity
6 %
Genes
100 %
Rett/Angelman Syndrome Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

UBE3A, ADSL, MECP2, SLC9A6, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, FOLR1, MBD5, WDR45, NRXN1, DYRK1A, PNKP, TCF4, CNTNAP2, ATRX, OPHN1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Cerebellar/Pontocerebellar Hypoplasia Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBB3, TUBA1A, RARS2, VRK1, RELN, TUBA8, TSEN54, TUBB2B, OPHN1, CASK, EXOSC3, TSEN34, TSEN2, CHMP1A, VLDLR, CDK5, AMPD2, SEPSECS
Specificity
6 %
Genes
100 %
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

WT1, CYP11A1, HCCS, CYB5A, CYP17A1, AR, ARX, DHCR7, SRY, LHCGR, ATRX, OPHN1, SOX9, NR5A1, HSD17B3, SRD5A2, GATA4, B3GLCT, AKR1C2, DYNC2H1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
Comprehensive Brain Malformations Panel.

By GeneDx in United States.

TUBB3, INPP5E, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Autism/Intellectual Disability/Multiple Anomalies.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MKKS, RAF1, MECP2, TUBA1A, SLC9A6, FGFR3, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, HRAS , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
CustomNext: Neuro.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
Neurodevelopment-Expanded.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
OPHN1 gene sequence and deletion/duplication.

By Ambry Genetics in United States.

OPHN1
Specificity
100 %
Genes
100 %
IDNext.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, MECP2, GAMT, GATM, TUSC3, SLC25A22, OTC, PDHA1, TIMM8A, MAOA, ACSL4, SLC9A6, ABCD1 , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
100 %
OPHN1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

OPHN1
Specificity
100 %
Genes
100 %
Angelman/Rett Seq.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

UBE3A, MECP2, SLC9A6, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, FOLR1, MBD5, DYRK1A, PNKP, TCF4, ATRX, OPHN1, ZEB2, EHMT1
Specificity
6 %
Genes
100 %
Angelman/Rett Del/Dup.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

UBE3A, MECP2, SLC9A6, ARX, CDKL5, FOXG1, MEF2C, PCDH19, FOLR1, MBD5, DYRK1A, PNKP, TCF4, ATRX, OPHN1, ZEB2, EHMT1
Specificity
6 %
Genes
100 %
Angelman/ Rett Seq + Del/Dup.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

UBE3A, MECP2, SLC9A6, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, FOLR1, MBD5, DYRK1A, PNKP, TCF4, ATRX, OPHN1, ZEB2, EHMT1
Specificity
6 %
Genes
100 %
X-linked mental retardation (deletion/duplication analysis, multiple genes).

By CGC Genetics in Portugal.

FMR1, ACSL4, SLC6A8, ARX, DCX, PQBP1, PAK3, OPHN1, HUWE1, AGTR2, AFF2, TSPAN7, GDI1, RPS6KA3, ARHGEF6, IL1RAPL1
Specificity
7 %
Genes
100 %
Mental retardation with cerebellar hypoplasia, X-linked (sequence analysis of OPHN1 gene).

By CGC Genetics in Portugal.

OPHN1
Specificity
100 %
Genes
100 %
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes).

By CGC Genetics in Portugal.

SLC25A19, DNM1L, RARS2, WDR62, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, DYRK1A, PNKP, OPHN1 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Mental retardation, X-linked (NGS panel for 89 genes).

By CGC Genetics in Portugal.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, SLC6A8 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
X-Linked Intellectual Disability Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FMR1, HSD17B10, NDP, HPRT1, NHS, MECP2, OTC, PDHA1, GK, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, TMLHE, SLC6A8, ARX, CDKL5, IDS , (...)

View the complete list with 108 more genes
Specificity
1 %
Genes
100 %
Mental Retardation with Cerebellar Hypoplasia and Distinctive Facial Appearance via the OPHN1 Gene.

By PreventionGenetics PreventionGenetics in United States.

OPHN1
Specificity
100 %
Genes
100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, GALT, BBS7 , (...)

View the complete list with 186 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, BBS7, BBS5 , (...)

View the complete list with 138 more genes
Specificity
1 %
Genes
100 %
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MECP2, STXBP1, TUSC3, ACSL4, SLC9A6, SLC6A8, ARX, FOXG1, MEF2C, SLC2A1, SMC1A, SCN2A, GRIN2B, CHD2, MBD5, TBC1D24, DEAF1, PQBP1, SCN8A, GRIN1 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
X-Linked Mental Retardation.

By MGZ Medical Genetics Center in Germany.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, SLC6A8 , (...)

View the complete list with 93 more genes
Specificity
1 %
Genes
100 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
100 %
Epileptic syndromes with epilepsy and intellectual disability panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

UBE3A, HSD17B10, MECP2, STXBP1, SLC9A6, SLC6A8, ARX, CDKL5, FOXG1, MEF2C, PLP1, SYNGAP1, SMC1A, GPC3, GRIN2B, GRIN2A, MBD5, TBC1D24, DCX, PQBP1 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Pontocerebellar hypoplasia panel.

By Centogene AG - the Rare Disease Company in Germany.

RARS2, VRK1, TSEN54, OPHN1, CASK, EXOSC3, TSEN34, TSEN2, CHMP1A
Specificity
12 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance.

By Centogene AG - the Rare Disease Company in Germany.

OPHN1
Specificity
100 %
Genes
100 %
Epilepsy and X-linked Mental Retardation with Seizures Panel.

By CeGaT GmbH in Germany.

HSD17B10, MECP2, SLC9A6, ARX, CDKL5, PCDH19, OFD1, SMS, ATRX, IQSEC2, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Single gene testing OPHN1.

By CeGaT GmbH in Germany.

OPHN1
Specificity
100 %
Genes
100 %
Spinocerebellar Ataxia.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, TWNK, PRKCG, WFS1, ELOVL4, AFG3L2, ACO2, COQ8A, DARS2, POLG2, FLVCR1, ABCB7, SLC9A6, PHYH, FXN, CYP27A1, APTX, TPP1, WWOX, NPC1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Brain malformations.

By Asper Biogene Asper Biogene LLC in Estonia.

TUBB3, INPP5E, CC2D2A, ATP6V0A2, SRD5A3, TMEM67, NPHP1, CEP290, DLD, SLC25A19, MECP2, PDHB, TUBA1A, RARS2, PDP1, GCSH, GLDC, AMT, PDHA1, DLAT , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
100 %
Mental retardation, X-linked, non-syndromic.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MECP2, ACSL4, SLC6A8, ARX, PQBP1, ATRX, FGD1, SYP, PAK3, KDM5C, OPHN1, CASK, AP1S2, NLGN4X, HUWE1, AGTR2, AFF2, ZNF711, ZNF41, DLG3 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
XLMR with Cerebellar Hypoplasia and Distinctive Facial Appearance: OPHN1 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

OPHN1
Specificity
100 %
Genes
100 %
XLMR with Cerebellar Hypoplasia and Distinctive Facial Appearance: OPHN1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

OPHN1
Specificity
100 %
Genes
100 %
Epilepsy and Seizure Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH5A1, ALDH7A1, NDUFA1, CYP27A1 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, ARX, CDKL5 , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
100 %
Autism Spectrum Disorders: Tier 2 Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, UBE3A, PTEN, ADSL, HPRT1, NHS, MECP2, SLC9A6, ALDH5A1, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
Brain Malformations: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TUBB3, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, WDR62, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Neurology: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

UBE3A, ADSL, TUBB3, CC2D2A, TMEM67, NPHP1, ADGRV1, CEP290, SHH, POLG, SLC25A19, MECP2, LIAS, GAMT, GATM, STXBP1, TUBA1A, RARS2, CTSD, SLC25A22 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
100 %
Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, SLC2A1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Brain Malformations: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TUBB3, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, WDR62, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Epilepsy and Seizure Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
100 %
Pontocerebellar Hypoplasia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RARS2, VRK1, TSEN54, OPHN1, CASK, TSEN34, TSEN2, SEPSECS
Specificity
13 %
Genes
100 %
Autism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, TSC2 , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
100 %
Cerebellar Hypoplasia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RARS2, VRK1, TSEN54, OPHN1, CASK, TSEN34, TSEN2, SEPSECS
Specificity
13 %
Genes
100 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
Rett-Angelman Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

UBE3A, MECP2, SLC9A6, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, PNKP, TCF4, CNTNAP2, ATRX, OPHN1, ZEB2, CAV1, MED17, TRAPPC9
Specificity
6 %
Genes
100 %
XLID NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
100 %
OPHN1.

By Fulgent Genetics Fulgent Genetics in United States.

OPHN1
Specificity
100 %
Genes
100 %
Idiopathic Generalized Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

UBE3A, ADSL, HSD17B10, ME2, MECP2, STXBP1, SLC9A6, ALDH7A1, ARX, CDKL5, FOXG1, MEF2C, PCDH19, PLP1, SLC2A1, SYNGAP1, SMC1A, GPC3, CSTB, SCN1A , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...)

View the complete list with 140 more genes
Specificity
1 %
Genes
100 %
Microcephaly and Pontocerebellar Hypoplasia Panel.

By Blueprint Genetics in Finland.

RARS2, GFM1, WDR62, MRE11, PHGDH, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, KANSL1, DYRK1A , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Ataxia Panel.

By Blueprint Genetics in Finland.

FMR1, ABHD12, TWNK, PRKCG, PAX6, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, POLG, NDUFS4, AFG3L2 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
100 %
X-linked Intellectual Disability Panel.

By Blueprint Genetics in Finland.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, SLC6A8 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
100 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance.

By Bioarray in Spain.

OPHN1
Specificity
100 %
Genes
100 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
INTELLECTUAL DEFICIT AND EPILEPSY (X-LINKED).

By Laboratorio de Genetica Clinica SL in Spain.

ARX, OPHN1, ATP6AP2
Specificity
34 %
Genes
100 %
X-Linked Intellectual Disability - Cerebellar Hypoplasia, Sequencing OPHN1 Gene.

By Reference Laboratory Genetics in Spain.

OPHN1
Specificity
100 %
Genes
100 %
Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes.

By Reference Laboratory Genetics in Spain.

MECP2, STXBP1, TUSC3, ACSL4, SLC6A8, ARX, MEF2C, SYNGAP1, KIF1A, DYNC1H1, GRIN2B, MBD5, DEAF1, PQBP1, TBL1XR1, ST3GAL3, KANSL1, NRXN1, GRIN1, DYRK1A , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
100 %
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes.

By Reference Laboratory Genetics in Spain.

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, TSC2 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes.

By Reference Laboratory Genetics in Spain.

TUBB3, TUBA1A, ARX, FOXG1, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, LAMA2, LARGE1, ASPM, COL4A1, ARFGEF2, DCX, NDE1, RELN, TUBA8 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Pontocerebellar Hypoplasia , Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

RARS2, VRK1, TSEN54, OPHN1, CASK, EXOSC3, TSEN34, TSEN2
Specificity
13 %
Genes
100 %
X-Linked Nonsyndromic Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes.

By Reference Laboratory Genetics in Spain.

MECP2, ACSL4, SLC6A8, ARX, PQBP1, ATRX, FGD1, SYP, PAK3, KDM5C, OPHN1, CASK, AP1S2, NLGN4X, HUWE1, AGTR2, AFF2, ZNF711, ZNF41, DLG3 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %

Alternate names

Mental Retardation, X-linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance Is also known as mental retardation, x-linked 60, formerly;mrx60, formerly;ophn1 syndrome; oligophrenin-1 syndrome.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like LIPOID CONGENITAL ADRENAL HYPERPLASIA; LCAH FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1; F5F8D1 MULTIPLE OSTEOCHONDROMAS CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1 SPINOCEREBELLAR ATAXIA 17; SCA17 MEVALONIC ACIDURIA; MEVA EPILEPSY, PYRIDOXINE-DEPENDENT; EPD

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