Spinocerebellar Ataxia, Autosomal Recessive 22; Scar22
Table of contents:
Genes related to Spinocerebellar Ataxia, Autosomal Recessive 22; Scar22
- VWA3B
Clinical Features
Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 22; Scar22
- Intellectual disability
- Ataxia
- Nystagmus
- Spasticity
- Hyperreflexia
- Dysarthria
- Tremor
- Hypoplasia of the corpus callosum
- Cerebellar atrophy
- Abnormal pyramidal sign
And another 7 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.Spinocerebellar Ataxia, Autosomal Recessive 22; Scar22 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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![]() 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 % |
![]() 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 % |
![]() By Fulgent Genetics Fulgent Genetics (United States).
VWA3B
Specificity
100 %
Genes
100 % |
You can get up to -5 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like IMMUNODEFICIENCY 10; IMD10 IMMUNODEFICIENCY 50; IMD50 GREENBERG DYSPLASIA; GRBGD SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21; SCAR21 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B; ARCI4B L-2-HYDROXYGLUTARIC ACIDURIA; L2HGA MECKEL SYNDROME 13; MKS13