Sensory Ataxic Neuropathy-dysarthria-ophthalmoparesis Syndrome

Description

Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.

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

Sensory Ataxic Neuropathy-dysarthria-ophthalmoparesis Syndrome Is also known as sando.

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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Sensory Ataxic Neuropathy-dysarthria-ophthalmoparesis Syndrome 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 %
POLG Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

POLG
Specificity
100 %
Genes
50 %
POLG Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

POLG
Specificity
100 %
Genes
50 %
POLG Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

POLG
Specificity
100 %
Genes
50 %
POLG Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

POLG
Specificity
100 %
Genes
50 %
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
14 %
Genes
100 %
PEO Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

SLC25A4, TWNK, MGME1, RRM2B, OPA1, OPA3, POLG, POLG2
Specificity
25 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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