Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3; Peob3

Clinical Features

Top most frequent phenotypes and symptoms related to Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3; Peob3

  • Muscle weakness
  • Ptosis
  • Dysarthria
  • Skeletal muscle atrophy
  • Dysphagia
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness
  • Facial palsy
  • Ophthalmoplegia

And another 8 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

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3; Peob3 Is also known as progressive external ophthalmoplegia, autosomal recessive 3.

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.

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3; Peob3 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
100 %
TK2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

TK2
Specificity
100 %
Genes
100 %
TK2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TK2
Specificity
100 %
Genes
100 %
TK2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TK2
Specificity
100 %
Genes
100 %
mtDNA Depletion/Integrity Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

SLC25A4, SUCLA2, SUCLG1, SUCLG2, TWNK, TK2, MGME1, RRM2B, DGUOK, TYMP, MPV17, OPA1, OPA3, POLG, POLG2
Specificity
7 %
Genes
100 %
TK2 DNA Sequencing Test (Related to mtDNA depletion).

By Athena Diagnostics Inc (United States).

TK2
Specificity
100 %
Genes
100 %
Miochondrial Encephalomyopathic Evaluation (TK2, RRM2B, POLG).

By Athena Diagnostics Inc (United States).

TK2, RRM2B, POLG
Specificity
34 %
Genes
100 %
Mitochondrial Depletion Panel.

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

SLC25A4, SPG7, SUCLA2, SUCLG1, TWNK, TFAM, TK2, FBXL4, APTX, MGME1, MFN2, RRM2B, AGK, ABAT, DGUOK, DNA2, TYMP, GFER, MPV17, OPA1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %

You can get up to 55 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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