Leber Optic Atrophy And Dystonia

Clinical Features

Top most frequent phenotypes and symptoms related to Leber Optic Atrophy And Dystonia

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Strabismus
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy

And another 27 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

Leber Optic Atrophy And Dystonia Is also known as leber hereditary optic neuropathy with dystonia, ldyt, dystonia, familial, with visual failure and striatal lucencies, marsden syndrome.

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.


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Leber Optic Atrophy And Dystonia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
LHON mtDNA Evaluation.

By Athena Diagnostics Inc (United States).

MT-ND1, MT-ND4, MT-ND6
Specificity
100 %
Genes
75 %
Leber Hereditary Optic Neuropathy.

By Center for Human Genetics, Inc (United States).

MT-ND1, MT-ND4
Specificity
100 %
Genes
50 %
Mitochondrial diseases.

By Center for Human Genetics, Inc (United States).

MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2
Specificity
34 %
Genes
100 %
Comprehensive Mitochondrial Metabolic Panel.

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

BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A , (...)

View the complete list with 173 more genes
Specificity
3 %
Genes
100 %
MT-ND1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

MT-ND1
Specificity
100 %
Genes
25 %
Mitochondrial Genome Sequence.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH , (...)

View the complete list with 15 more genes
Specificity
12 %
Genes
100 %
Comprehensive Cardiomyopathy Panel.

By GeneDx (United States).

RYR2, SCN5A, SGCD, BRAF, SOS1, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, MYOZ2, JPH2, ACTC1, CAV3, LDB3 , (...)

View the complete list with 56 more genes
Specificity
3 %
Genes
50 %
DCM/LVNC Sequencing Panel.

By GeneDx (United States).

SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, ACTC1, LDB3, ANKRD1, ACTN2, CSRP3, RBM20, DES, NEXN, EMD , (...)

View the complete list with 17 more genes
Specificity
6 %
Genes
50 %

We have 43 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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