Spinocerebellar Ataxia 14; Sca14

Clinical Features

Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia 14; Sca14

  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Gait disturbance
  • Dysphagia
  • Cerebellar atrophy
  • Dystonia

And another 17 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Spinocerebellar Ataxia 14; Sca14 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 %
PRKCG Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PRKCG
Specificity
100 %
Genes
100 %
PRKCG Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

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

By Baylor Miraca Genetics Laboratories (United States).

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

By Baylor Miraca Genetics Laboratories (United States).

PRKCG
Specificity
100 %
Genes
100 %
Ataxia, Comprehensive Evaluation.

By Athena Diagnostics Inc (United States).

SACS, ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, TTPA, VAMP1, CACNA1A, CACNB4, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, SYT14 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Ataxia, Supplemental Dominant Evaluation.

By Athena Diagnostics Inc (United States).

SLC1A3, SPTBN2, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3, KCND3, PDYN, PRKCG
Specificity
7 %
Genes
100 %
Ataxia, Complete Dominant Evaluation.

By Athena Diagnostics Inc (United States).

ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, ATN1, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %

You can get up to 45 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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