Tay-sachs Disease; Tsd
Description
Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years.
Clinical Features
Top most frequent phenotypes and symptoms related to Tay-sachs Disease; Tsd
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Ataxia
- Muscle weakness
- Spasticity
- Peripheral neuropathy
- Dysarthria
- Skeletal muscle atrophy
And another 75 symptoms. If you need more information about this disease we can help you.
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
Tay-sachs Disease; Tsd Is also known as b variant gm2-gangliosidosis, gm2-gangliosidosis, type i, hexosaminidase a deficiency, hexa deficiency.
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.Tay-sachs Disease; Tsd Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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MitoMet®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 % |
Ashkenazic Genetic Disease Panel.
By Baylor Miraca Genetics Laboratories (United States).
CFTR, HEXA, ELP1, ASPA
Specificity
25 %
Genes
100 % |
HEXA Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
HEXA
Specificity
100 %
Genes
100 % |
HEXA Sequence Analysis (Familial Mutation/Variant Analysis).
By Baylor Miraca Genetics Laboratories (United States).
HEXA
Specificity
100 %
Genes
100 % |
HEXA Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
HEXA
Specificity
100 %
Genes
100 % |
Tay - Sachs Disease Ashkenazic Mutation Panel.
By Baylor Miraca Genetics Laboratories (United States).
HEXA
Specificity
100 %
Genes
100 % |
GeneAware Complete Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)
View the complete list with 139 more genes
Specificity
1 %
Genes
100 % |
GeneAware Complete Panel Version 2 (Male).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)
View the complete list with 129 more genes
Specificity
1 %
Genes
100 % |
You can get up to 118 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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