Spinocerebellar Ataxia 42, Early-onset, Severe, With Neurodevelopmental Deficits; Sca42nd

Clinical Features

Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia 42, Early-onset, Severe, With Neurodevelopmental Deficits; Sca42nd

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia
  • Hypertelorism
  • Strabismus
  • Spasticity
  • Hyperreflexia

And another 28 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.


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Spinocerebellar Ataxia 42, Early-onset, Severe, With Neurodevelopmental Deficits; Sca42nd 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 %
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 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH (Germany).

RPIA, SACS, ATXN1, ATXN10, ATXN2, ATXN7, SCN2A, SLC17A5, SLC1A3, SLC6A1, SLC9A1, SNAP25, BTD, SPG7, SPR, SPTBN2, STUB1, TBP, TWNK, ACO2 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
Ataxia, autosomal dominant and X-linked Panel.

By CeGaT GmbH (Germany).

ATXN1, ATXN10, ATXN2, ATXN7, SLC1A3, SPG7, SPTBN2, TBP, VAMP1, VLDLR, CACNA1A, CACNA1G, CACNB4, ELOVL4, NOP56, TGM6, TTBK2, CCDC88C, ELOVL5, BEAN1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
CACNA1G.

By Fulgent Genetics Fulgent Genetics (United States).

CACNA1G
Specificity
100 %
Genes
100 %
SPINOCEREBELLAR ATAXIA NGS PANEL.

By Laboratorio de Genetica Clinica SL (Spain).

SPTBN2, STUB1, TWNK, TTPA, WWOX, CA8, CACNA1A, CACNA1G, ELOVL4, APTX, TGM6, COQ8A, SYNE1, PMPCA, CAMTA1, TDP1, GBA2, TTBK2, CCDC88C, TPP1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes.

By Reference Laboratory Genetics (Spain).

RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC25A3, SLC6A4, SNTA1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TSFM, TTN, TTR , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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