Severe Canavan Disease
Description
Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.
Clinical Features
Top most frequent phenotypes and symptoms related to Severe Canavan Disease
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Muscular hypotonia
- Spasticity
- Macrocephaly
- Optic atrophy
- Dysphagia
- Visual loss
And another 6 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
Severe Canavan Disease Is also known as neonatal canavan disease, infantile canavan disease.
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.Severe Canavan Disease Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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![]() By Baylor Miraca Genetics Laboratories (United States).
ASPA
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
CFTR, HEXA, ELP1, ASPA
Specificity
25 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
SMPD1, FANCC, GBA, ELP1, ASPA
Specificity
20 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
SMPD1, FANCC, GBA, ELP1, ASPA
Specificity
20 %
Genes
100 % |
![]() 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 % |
![]() 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 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, DMD, FAH, FANCC , (...)
View the complete list with 19 more genes
Specificity
3 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
BLM, SMN1, SMPD1, MCOLN1, CFTR, FANCC, GBA, HBA1, HBA2, HBB, HEXA, ELP1, ASPA
Specificity
8 %
Genes
100 % |
You can get up to 83 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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