Tremor-ataxia-central Hypomyelination Syndrome

Clinical Features

Top most frequent phenotypes and symptoms related to Tremor-ataxia-central Hypomyelination Syndrome

  • Global developmental delay
  • Short stature
  • Ataxia
  • Nystagmus
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Myopia
  • Optic atrophy
  • Dysphagia

And another 31 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

Tremor-ataxia-central Hypomyelination Syndrome Is also known as tach 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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Tremor-ataxia-central Hypomyelination Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
POLIII- Related Leukodystrophies.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children (United States).

POLR3A, POLR3B
Specificity
50 %
Genes
100 %
POLR3A. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

POLR3A
Specificity
100 %
Genes
100 %
Leukodystrophy hypomyelinating type 7 (sequence analysis of POLR3A gene).

By CGC Genetics (Portugal).

POLR3A
Specificity
100 %
Genes
100 %
Leukodystrophy hypomyelinating (NGS panel for 3 genes).

By CGC Genetics (Portugal).

TUBB4A, POLR3A, POLR3B
Specificity
34 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SCP2, AIMP1, SDHB, SLC16A2, SLC17A5, SLC25A1, SLC25A12, SLC25A4, SOX10, SPG11, SPG7, SUCLA2, SURF1, TWNK, ACOX1, TREX1, TUFM, TYROBP, WARS2, MCOLN1 , (...)

View the complete list with 135 more genes
Specificity
1 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
Epilepsy and Hypomyelination.

By MGZ Medical Genetics Center (Germany).

SPTAN1, TUBB4A, FAM126A, POLR3A, POLR3B, EIF2B3, FOLR1, PLP1
Specificity
13 %
Genes
100 %

We have 21 more panels available in our App

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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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