Myotubular Myopathy With Abnormal Genital Development

Description

X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.

Clinical Features

Phenotypes and symptoms related to Myotubular Myopathy With Abnormal Genital Development

  • Myopathy
  • Hypospadias
  • Micropenis
  • Bifid scrotum
  • Scrotal hypospadias

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Myotubular Myopathy With Abnormal Genital Development Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

TRIM32, NEB, DNM2, TTN, MYH7, SELENON, RYR1, MYBPC3, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
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
50 %
Myotubular Myopathy, X-linked.

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

MTM1
Specificity
100 %
Genes
50 %
Neuromuscular Disorders Panel.

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

ATP7A, TWNK, GAA, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, CRYAB, VCP, AGK, CAVIN1, DPM3, SUCLA2, PNPLA2, REEP1, POLG2, TK2, DPM1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
50 %
X-Linked Centronuclear Myopathy.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital in United States.

MTM1
Specificity
100 %
Genes
50 %
Comprehensive Neuromuscular Panel.

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

GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
50 %
Congenital Muscular Myopathy.

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

NEB, DNM2, MYH7, SELENON, RYR1, TPM3, ACTA1, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, MYF6
Specificity
7 %
Genes
50 %
MTM1 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

MTM1
Specificity
100 %
Genes
50 %
Neuromuscular Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

GAA, GNE, TRIM32, CRYAB, VCP, DPM3, DPM1, ALG2, CHAT, PYGM, GBE1, DPAGT1, DMD, HRAS, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
50 %
MTM1 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

MTM1
Specificity
100 %
Genes
50 %
Congenital Myopathy Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

HRAS, NEB, DNM2, SCN4A, TTN, MYH7, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
50 %
Congenital Myopathy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

HRAS, NEB, DNM2, SCN4A, TTN, MYH7, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
50 %
Centronuclear Myopathy Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

DNM2, RYR1, CCDC78, MTM1, BIN1, MYF6, SPEG
Specificity
15 %
Genes
50 %
MTM1. Complete sequencing.

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

MTM1
Specificity
100 %
Genes
50 %
X-Linked Centronuclear Myopathy (sequence analysis of MTM1 gene).

By CGC Genetics in Portugal.

MTM1
Specificity
100 %
Genes
50 %
Congenital myopathy (NGS panel of 19 genes).

By CGC Genetics in Portugal.

NEB, DNM2, MYH7, FHL1, SELENON, RYR1, ACTA1, CCDC78, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, MYF6, MTMR14, MAMLD1
Specificity
12 %
Genes
100 %
Congenital myopathy (NGS panel of 19 genes).

By CGC Genetics in Portugal.

NEB, DNM2, MYH7, FHL1, SELENON, RYR1, ACTA1, CCDC78, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, MYF6, MTMR14, MAMLD1
Specificity
12 %
Genes
100 %
X-Linked Centronuclear Myopathy.

By Mersey Regional Genetics Laboratories Liverpool Women's Hospital in United Kingdom.

MTM1
Specificity
100 %
Genes
50 %
Congenital Myopathy Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

NEB, DNM2, LMNA, TTN, KLHL9, MYH7, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
50 %
Centronuclear Myopathy, X-Linked via MTM1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MTM1
Specificity
100 %
Genes
50 %
Comprehensive Neuromuscular Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

AGL, GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, ISCU, CHAT, PFKM, PYGM, GBE1, DPAGT1, DMD, CHRNE , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
50 %
X-Linked Centronuclear Myopathy.

By MGZ Medical Genetics Center in Germany.

MTM1
Specificity
100 %
Genes
50 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
50 %
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
50 %
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
50 %
Histological Structural Myopathy (Nemaline / Core / Centronuclear), Congenital Myopathy.

By MGZ Medical Genetics Center in Germany.

NEB, DNM2, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, KBTBD13, CFL2, TPM2, TNNT1, MTM1, BIN1, MTMR14
Specificity
7 %
Genes
50 %
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
50 %
Newborn: “Floppy Infant “.

By MGZ Medical Genetics Center in Germany.

GAA, GARS, MFN2, ALG2, CHAT, GBE1, DPAGT1, CHRNE, DOK7, FKTN, NEB, POMGNT1, RAPSN, GDAP1, TRPV4, MPZ, NEFL, EGR2, DNM2, LMNA , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
50 %
Muscle Disease with Ptosis / External Ophthalmoplegia.

By MGZ Medical Genetics Center in Germany.

TWNK, TUBB3, POLG, SLC25A4, RRM2B, POLG2, ALG2, CHAT, KIF21A, DPAGT1, CHRNE, DOK7, RAPSN, DNM2, RYR1, MTM1, COLQ, MUSK, GFPT1, AGRN , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Muscle Weakness (Myopathy, Muscular Dystrophy).

By MGZ Medical Genetics Center in Germany.

TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
50 %
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR).

By MGZ Medical Genetics Center in Germany.

ACADM, AGL, ACADVL, GAA, CPT2, GNE, TRIM32, POLG, RRM2B, CRYAB, HADHA, VCP, PNPLA2, TK2, HADHB, PUS1, ABHD5, LPIN1, ISCU, PYGM , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
50 %
Myotubular myopathy X-linked.

By Centogene AG - the Rare Disease Company in Germany.

MTM1
Specificity
100 %
Genes
50 %
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 %
Congenital and Distal Myopathies Panel.

By CeGaT GmbH in Germany.

YARS2, TWNK, OPA1, GNE, TRIM32, POLG, RRM2B, CRYAB, VCP, SUCLA2, POLG2, TK2, PUS1, ISCU, NEB, DNM2, PABPN1, CAV3, DYSF, TTN , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
50 %
Single gene testing MTM1.

By CeGaT GmbH in Germany.

MTM1
Specificity
100 %
Genes
50 %
MTM1 - Gene sequencing.

By Clinical Genetics Academic Medical Center in Netherlands.

MTM1
Specificity
100 %
Genes
50 %
Congenital Myopathy and Distal Myopathy NGS panel.

By Asper Biogene Asper Biogene LLC in Estonia.

GNE, CRYAB, VCP, SQSTM1, NEB, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, SELENON , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
50 %
Invitae Comprehensive Neuromuscular Disorders Panel.

By Invitae in United States.

GAA, CPT2, GNE, TRIM32, CRYAB, VCP, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, TAZ, CHAT, DPAGT1, DMD, SMN1, CHRNE, DOK7, FKTN, NEB , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
50 %
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel.

By Invitae in United States.

TTR, AGL, GAA, EYA4, CPT2, GNE, TRIM32, DSP, CRYAB, RAF1, VCP, DPM3, PNPLA2, DPM1, SQSTM1, TAZ, SLC22A5, DOLK, DMD, GLA , (...)

View the complete list with 93 more genes
Specificity
1 %
Genes
50 %
Invitae Congenital Myopathy Panel.

By Invitae in United States.

NEB, DNM2, TTN, MYH7, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, COL6A2, COL6A3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Invitae Centronuclear Myopathy Panel.

By Invitae in United States.

DNM2, TTN, RYR1, CCDC78, MTM1, BIN1
Specificity
17 %
Genes
50 %
Invitae Comprehensive Myopathy Panel.

By Invitae in United States.

CPT2, GNE, CRYAB, VCP, SQSTM1, NEB, DNM2, LMNA, CAV3, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
50 %
Myotubular myopahy, X-linked: MTM1 gene sequence analysis.

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

MTM1
Specificity
100 %
Genes
50 %
Myotubular myopahy, X-linked: MTM1 gene deletions-duplications analysis (MLPA).

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

MTM1
Specificity
100 %
Genes
50 %
NEMALINE MYOPATHY.

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

NEB, TPM3, ACTA1, CFL2, TPM2, TNNT1, MTM1
Specificity
15 %
Genes
50 %
X-Linked Myotubular Myopathy: MTM1 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTM1
Specificity
100 %
Genes
50 %
X-Linked Myotubular Myopathy: MTM1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTM1
Specificity
100 %
Genes
50 %
Expanded Neuromuscular Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
50 %
Expanded Neuromuscular Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
50 %
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
50 %
MTM1.

By Fulgent Genetics Fulgent Genetics in United States.

MTM1
Specificity
100 %
Genes
50 %
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
2 %
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
50 %
Comprehensive Muscular Dystrophy / Myopathy Panel.

By Blueprint Genetics in Finland.

GAA, TRIM32, POLG, CRYAB, PNPLA2, SEPT9, DMD, FKTN, NEB, SGCA, SGCB, SGCG, CAPN3, LMNA, PABPN1, FKRP, CAV3, DYSF, TTN, DES , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
50 %
Nemaline Myopathy Panel.

By Blueprint Genetics in Finland.

NEB, KLHL40, TPM3, ACTA1, KBTBD13, CFL2, TPM2, TNNT1, MTM1, KLHL41, LMOD3
Specificity
10 %
Genes
50 %
Arthrogryposes Panel.

By Blueprint Genetics in Finland.

FKBP10, RARS2, TK2, PLOD2, SCO2, CHAT, GBE1, PMM2, DPAGT1, GBA, CHRNE, DOK7, FKTN, NEB, RAPSN, TRPV4, MPZ, EGR2, FHL1, SELENON , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
50 %
X-linked centronuclear myopathy.

By Bioarray in Spain.

MTM1
Specificity
100 %
Genes
50 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
50 %
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
2 %
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
2 %
Genes
100 %
MYOTUBULAR / CENTRONUCLEAR MYOPATHY (X-LINKED).

By Laboratorio de Genetica Clinica SL in Spain.

MTM1
Specificity
100 %
Genes
50 %
X-Linked Myotubular Myopathy , Sequencing MTM1 Gene.

By Reference Laboratory Genetics in Spain.

MTM1
Specificity
100 %
Genes
50 %
X-Linked Myotubular Myopathy , Deletions-Duplications (MLPA) MTM1 Gene.

By Reference Laboratory Genetics in Spain.

MTM1
Specificity
100 %
Genes
50 %
Nemaline Myopathy, Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

NEB, TPM3, ACTA1, CFL2, TPM2, TNNT1, MTM1
Specificity
15 %
Genes
50 %
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes.

By Reference Laboratory Genetics in Spain.

GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, PHKA1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, PEX2, PEX7 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
50 %
Centronuclear Myopathy , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

DNM2, RYR1, MTM1, BIN1, MYF6
Specificity
20 %
Genes
50 %
Centronuclear Myopathy: gene deletion/duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTM1
Specificity
100 %
Genes
50 %
Centronuclear Myopathy: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTM1
Specificity
100 %
Genes
50 %
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
50 %
Hypospadias Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

WT1, HNF1B, PITX2, MKKS, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, SOX2, FGFR3, AR, ARX, CREBBP, DHCR7, PTPN11, FGFR2, CDKN1C, GPC3, HBA1 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
50 %
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
50 %
Hypospadias 2, X-linked (sequence analysis of MAMLD1 gene).

By CGC Genetics in Portugal.

MAMLD1
Specificity
100 %
Genes
50 %
Female Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, GALT, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1 , (...)

View the complete list with 83 more genes
Specificity
1 %
Genes
50 %
Male Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1, HESX1 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
50 %
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
50 %
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
50 %
Hypospadias 2, X-linked.

By Centogene AG - the Rare Disease Company in Germany.

MAMLD1
Specificity
100 %
Genes
50 %
qGenEx Sex development disorders.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

STAR, WT1, MKKS, CYP11B1, HSD3B2, CYP11A1, CYB5A, CYP17A1, AR, ARX, DHCR7, SRY, NR0B1, LHCGR, ATRX, SOX3, POR, SOX9, RIPK4, NR5A1 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
50 %
MAMLD1.

By Fulgent Genetics Fulgent Genetics in United States.

MAMLD1
Specificity
100 %
Genes
50 %
Abnormal Genitalia/ Disorders of Sex Development Panel.

By Blueprint Genetics in Finland.

STAR, WT1, CYP11B1, HSD3B2, CYP11A1, BCOR, MKS1, CYP17A1, AR, ARX, CHD7, CREBBP, DHCR7, SRY, CDKN1C, FIG4, NR0B1, FGFR1, LHCGR, TACR3 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
50 %
FAMILIAL HYPOSPADIAS.

By Laboratorio de Genetica Clinica SL in Spain.

AR, MAMLD1
Specificity
50 %
Genes
50 %
X-Linked Familial Hypospadias , Panel Massive Sequencing (NGS) AR, MAMLD1 Genes.

By Reference Laboratory Genetics in Spain.

AR, MAMLD1
Specificity
50 %
Genes
50 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
50 %

Alternate names

Myotubular Myopathy With Abnormal Genital Development Is also known as ;xq28 contiguous gene deletion syndrome.



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