Combined Oxidative Phosphorylation Deficiency 29; Coxpd29
Genes related to Combined Oxidative Phosphorylation Deficiency 29; Coxpd29
- TXN2
Clinical Features
Top most frequent phenotypes and symptoms related to Combined Oxidative Phosphorylation Deficiency 29; Coxpd29
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Spasticity
- Feeding difficulties
- Peripheral neuropathy
- Optic atrophy
- Cerebellar atrophy
- Dystonia
And another 15 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.)— The onset for some of the known clinical features related to this disease may vary, including juvenile 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.Combined Oxidative Phosphorylation Deficiency 29; Coxpd29 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Neurogenetic Disorders - panels.
By MGZ Medical Genetics Center (Germany).
BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)
View the complete list with 572 more genes
Specificity
1 %
Genes
100 % |
Nuclear-Mito NGS Panel.
By Fulgent Genetics Fulgent Genetics (United States).
RNASEL, BCS1L, RPL35A, MRPL3, RYR1, RYR2, SACS, ACSM3, SARDH, ATXN7, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCO1, SCO2, SCP2, SDHA, SDHB , (...)
View the complete list with 476 more genes
Specificity
1 %
Genes
100 % |
TXN2.
By Fulgent Genetics Fulgent Genetics (United States).
TXN2
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.
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