Spondyloepimetaphyseal Dysplasia, X-linked, With Mental Deterioration

Description

Spondyloepimetaphyseal dysplasia, Bieganski type is a rare primary bone dysplasia disorder characterized by infantile-onset, progressive, multiple skeletal deformities in association with slowly progressive central and peripheral neurodegeneration. Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. Imaging shows abnormally-shaped vertebral bodies, small, flat epiphyses, and widened metaphyses, as well as cerebral and cerebellar atrophy and progressive axonal-hypomyelinating neuropathy.

Clinical Features

Top most frequent phenotypes and symptoms related to Spondyloepimetaphyseal Dysplasia, X-linked, With Mental Deterioration

  • Seizures
  • Short stature
  • Hypertelorism
  • Flexion contracture
  • Low-set ears
  • Depressed nasal bridge
  • High palate
  • Brachydactyly
  • Short neck
  • Hypoplasia of the corpus callosum
And another 31 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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Spondyloepimetaphyseal Dysplasia, X-linked, With Mental Deterioration Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

ABHD12, USH1G, USH1C, ANKH, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 151 more genes
Specificity
1 %
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 %
Charcot-Marie-Tooth Hereditary Neuropathy Panel.

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

GARS, KIF1B, MFN2, VCP, HARS, KARS, AIFM1, SURF1, NEFH, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States.

USH1G, USH1C, TWNK, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
Charcot Marie Tooth Panel.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

TTR, GARS, KIF1B, MFN2, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ATP7A, FBLN5, GARS, KIF1B, MFN2, HARS, KARS, SPTLC2, REEP1, AIFM1, HEXA, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ATP7A, FBLN5, GARS, KIF1B, MFN2, HARS, KARS, SPTLC2, REEP1, AIFM1, HEXA, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Combined oxidative phosphorylation deficiency type 6 (sequence analysis of AIFM1 gene).

By CGC Genetics in Portugal.

AIFM1
Specificity
100 %
Genes
100 %
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes).

By CGC Genetics in Portugal.

TTR, ABHD12, TWNK, C12orf65, GARS, KIF1B, MFN2, KARS, SPTLC2, REEP1, TYMP, AIFM1, PHYH, HK1, SEPT9, ELP1, SLC12A6, NDRG1, SBF2, PRX , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
100 %
Charcot-Marie-Tooth disease (NGS panel for 43 genes).

By CGC Genetics in Portugal.

C12orf65, GARS, KIF1B, MFN2, KARS, AIFM1, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FBLN5, GARS, MFN2, KARS, AIFM1, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GARS, MFN2, KARS, AIFM1, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, NEFL, HSPB8, RAB7A, HSPB1, DNM2 , (...)

View the complete list with 18 more genes
Specificity
3 %
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 %
AIFM1-Related Disorders via the AIFM1 Gene.

By PreventionGenetics PreventionGenetics in United States.

AIFM1
Specificity
100 %
Genes
100 %
Comprehensive Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TTR, ATP7A, FBLN5, GARS, MFN2, KARS, SPTLC2, REEP1, AIFM1, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1 , (...)

View the complete list with 51 more genes
Specificity
2 %
Genes
100 %
Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UQCRQ, BCS1L, C12orf65, DLD, POLG, NDUFS4, FOXRED1, NDUFAF2, COQ9, PDSS2, NDUFA12, LIAS, NDUFA9, PDHB, TTC19, NDUFA10, NUBPL, SUCLA2, TSFM, GFM1 , (...)

View the complete list with 43 more genes
Specificity
2 %
Genes
100 %
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AARS2, ACAD9, YARS2, UQCRQ, UQCRB, ATP5F1E, ATPAF2, BCS1L, TWNK, C12orf65, ELAC2, OPA1, TRMU, DLD, POLG, NDUFS4, SLC25A4, GARS, AFG3L2, FOXRED1 , (...)

View the complete list with 154 more genes
Specificity
1 %
Genes
100 %
Atrial fibrillation Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

C12orf65, GARS, HADHB, AIFM1, GLA, FIG4, FGD4, GDAP1, EGR2, HSPB1, DNM2, GJB1, BSCL2, DYNC1H1, COX6A1, GNB4, DHTKD1, AARS, ATP1A1
Specificity
6 %
Genes
100 %
Atrioventricular block Comprehensive test.

By Connective Tissue Gene Tests in United States.

C12orf65, GAA, AIFM1, GLA, BSCL2, COX6A1, AARS, ATP1A1
Specificity
13 %
Genes
100 %
Atrioventricular block NGS test.

By Connective Tissue Gene Tests in United States.

C12orf65, GAA, AIFM1, GLA, BSCL2, COX6A1, AARS, ATP1A1
Specificity
13 %
Genes
100 %
Atrial fibrillation Comprehensive test.

By Connective Tissue Gene Tests in United States.

C12orf65, GARS, HADHB, AIFM1, GLA, FIG4, FGD4, GDAP1, EGR2, HSPB1, DNM2, GJB1, BSCL2, DYNC1H1, COX6A1, GNB4, DHTKD1, AARS, ATP1A1
Specificity
6 %
Genes
100 %
Atrial fibrillation NGS test.

By Connective Tissue Gene Tests in United States.

C12orf65, GARS, HADHB, AIFM1, GLA, FIG4, FGD4, GDAP1, EGR2, HSPB1, DNM2, GJB1, BSCL2, DYNC1H1, COX6A1, GNB4, DHTKD1, AARS, ATP1A1
Specificity
6 %
Genes
100 %
Charcot-Marie-Tooth disease Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

C12orf65, GARS, KIF1B, MFN2, KARS, HADHB, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Charcot-Marie-Tooth disease NGS panel.

By Connective Tissue Gene Tests in United States.

C12orf65, GARS, KIF1B, MFN2, KARS, HADHB, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Charcot-Marie-Tooth disease Comprehensive panel.

By Connective Tissue Gene Tests in United States.

C12orf65, GARS, KIF1B, MFN2, KARS, HADHB, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8 , (...)

View the complete list with 23 more genes
Specificity
3 %
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 %
Neuropathy.

By MGZ Medical Genetics Center in Germany.

TTR, ABHD12, ATP7A, C12orf65, GAA, FBLN5, OPTN, AMACR, POLG, GARS, MFN2, HADHA, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, SQSTM1 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Depletion.

By MGZ Medical Genetics Center in Germany.

TWNK, POLG, RRM2B, DGUOK, GFER, SUCLA2, TK2, TYMP, AIFM1, MPV17, SUCLG1, MGME1
Specificity
9 %
Genes
100 %
Vascular and connective tissue diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AGL, B4GALT7, ADSL, COL1A1, COL1A2, COL3A1, AMACR, POLG, AFG3L2, FBN1, AGK, SLC39A13, COQ8A, OTC, AIFM1, CBS, COL5A1, COL5A2, GLA , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
100 %
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
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 %
Mitochondrial Diseases.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, UQCRB, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SDHAF2, CPT2, OPA1, TRMU , (...)

View the complete list with 148 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, YARS2, PC, UQCRQ, UQCRB, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, SDHAF2, OPA1, TRMU, WFS1, DLD, POLG, NDUFS4, SLC25A19, SLC25A4 , (...)

View the complete list with 111 more genes
Specificity
1 %
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 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Combined oxidative phosphorylation deficiency 6.

By Centogene AG - the Rare Disease Company in Germany.

AIFM1
Specificity
100 %
Genes
100 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Charcot-Marie-Tooth and Sensory Neuropathies Panel.

By CeGaT GmbH in Germany.

TTR, ABHD12, TWNK, C12orf65, FBLN5, OPA1, POLG, GARS, KIF1B, MFN2, HADHA, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Mitochondrial Diseases (mtDNA and 133 nuclear genes).

By Asper Biogene Asper Biogene LLC in Estonia.

AARS2, ACAD9, ACADL, ACADM, ACADS, ACADVL, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB, HLCS, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SLC37A4 , (...)

View the complete list with 112 more genes
Specificity
1 %
Genes
100 %
Charcot-Marie-Tooth Disease.

By Asper Biogene Asper Biogene LLC in Estonia.

C12orf65, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, TYMP, AIFM1, SURF1, NAGLU, HK1, ARSA, NDRG1, SBF2, PRX, FIG4 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
100 %
Invitae Comprehensive Neuropathies Panel.

By Invitae in United States.

TTR, ATP7A, GARS, MFN2, HARS, SPTLC2, REEP1, AIFM1, ELP1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Invitae Charcot-Marie-Tooth Disease Comprehensive Panel.

By Invitae in United States.

GARS, MFN2, HARS, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Invitae Charcot-Marie-Tooth Disease X-linked Panel.

By Invitae in United States.

AIFM1, GJB1, PRPS1, PDK3
Specificity
25 %
Genes
100 %
Hearing Loss: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, USH1G, USH1C, BTD, EYA1, COL2A1, EYA4, HSD17B4, OPA1, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO , (...)

View the complete list with 111 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 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
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 %
AIFM1.

By Fulgent Genetics Fulgent Genetics in United States.

AIFM1
Specificity
100 %
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 %
Comprehensive Hearing Loss and Deafness Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, EYA4, HSD17B4, TRMU, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15 , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
100 %
Charcot-Marie-Tooth Neuropathy Panel.

By Blueprint Genetics in Finland.

TTR, ATP7A, C12orf65, FBLN5, AMACR, GNE, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Panel.

By Blueprint Genetics in Finland.

PSAP, HSPD1, FOXRED1, NFU1, TTC19, NUBPL, DARS2, GFM1, D2HGDH, AIFM1, ABCD1, ALDH3A2, COX15, SDHAF1, NDUFAF5, HIBCH, GALC, L2HGDH, COX6B1, CYP27A1 , (...)

View the complete list with 54 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 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
X-Linked Hereditary Deafness , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

TIMM8A, AIFM1, POU3F4, COL4A5, COL4A6, PRPS1, SMPX
Specificity
15 %
Genes
100 %

Alternate names

Spondyloepimetaphyseal Dysplasia, X-linked, With Mental Deterioration Is also known as semd, x-linked, with mental deterioration;.


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