Autosomal Recessive Spinocerebellar Ataxia-blindness-deafness Syndrome

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Recessive Spinocerebellar Ataxia-blindness-deafness Syndrome

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Optic atrophy
  • Blindness
  • Gait ataxia
  • Difficulty walking
  • Sensory neuropathy
  • Progressive cerebellar ataxia
  • Sensorimotor neuropathy

And another 10 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

Autosomal Recessive Spinocerebellar Ataxia-blindness-deafness Syndrome Is also known as scabd, scar3, autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome, autosomal recessive spinocerebellar ataxia type 3, spinocerebellar ataxia with blindness and deafness.

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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Autosomal Recessive Spinocerebellar Ataxia-blindness-deafness Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

View the complete list with 149 more genes
Specificity
1 %
Genes
50 %
Non-immune Hydrops Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
50 %
NGS Peroxisome Biogenesis Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

PEX26, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX19, PEX2, PEX5
Specificity
9 %
Genes
50 %
Lysosomal Storage Disease Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
50 %
Zellweger Spectrum Disorder NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

PEX26, DNM1L, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX19, PEX2, PEX5
Specificity
8 %
Genes
50 %
Zelweger Spectrum Disorder and Beta-Oxidation Defect NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

SCP2, ACOX1, PEX26, DNM1L, HSD17B4, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX19, PEX2, PEX5
Specificity
7 %
Genes
50 %
Peroxisomal Disorders Comprehensive NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

SCP2, ACOX1, CAT, PEX26, DNM1L, AGPS, AGXT, GNPAT, AMACR, HSD17B4, TRIM37, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics (United States).

ROR1, SIX1, SIX5, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TWNK, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN , (...)

View the complete list with 130 more genes
Specificity
1 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Genetic Syndrome Finder

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