Congenital Myasthenic Syndromes With Glycosylation Defect

Clinical Features

Top most frequent phenotypes and symptoms related to Congenital Myasthenic Syndromes With Glycosylation Defect

  • Generalized hypotonia
  • Scoliosis
  • Ptosis
  • Flexion contracture
  • High palate
  • Motor delay
  • Myopathy
  • Areflexia
  • Elevated serum creatine phosphokinase
  • Pes planus

And another 26 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.

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.

Congenital Myasthenic Syndromes With Glycosylation Defect Recommended genes panels

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

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
20 %
ALG2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ALG2
Specificity
100 %
Genes
20 %
ALG2 Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ALG2
Specificity
100 %
Genes
20 %
ALG2 Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ALG2
Specificity
100 %
Genes
20 %
ALG2 Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ALG2
Specificity
100 %
Genes
20 %
ALG2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ALG2
Specificity
100 %
Genes
20 %
Congenital Disorders of Glycosylation Panel.

By Baylor Miraca Genetics Laboratories (United States).

SLC35A1, ALG9, ALG1, ATP6V0A2, COG7, COG8, ALG12, SLC35C1, ALG3, ALG6, ALG2, ALG8, DOLK, GNE, MOGS, SRD5A3, DPAGT1, DPM1, DPM3, RFT1 , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
40 %
Congenital Contractures Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
20 %

You can get up to 125 more panels with our dedicated tool

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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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