Combined Oxidative Phosphorylation Defect Type 27
Genes related to Combined Oxidative Phosphorylation Defect Type 27
- CARS2
Clinical Features
Top most frequent phenotypes and symptoms related to Combined Oxidative Phosphorylation Defect Type 27
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Failure to thrive
- Feeding difficulties
- Visual impairment
- Hypoplasia of the corpus callosum
- Cerebellar atrophy
- Dystonia
And another 24 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
Combined Oxidative Phosphorylation Defect Type 27 Is also known as coxpd27.
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 Defect Type 27 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By PreventionGenetics PreventionGenetics (United States).
RORB, SCN10A, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL3, ST3GAL5, SLC17A5, SLC1A2, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMARCA2, SMC1A, SNAP25, SON, SPTAN1 , (...)
View the complete list with 133 more genes
Specificity
1 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
RORB, RYR3, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SGCE, ST3GAL3, ST3GAL5, SLC25A12, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMC1A , (...)
View the complete list with 202 more genes
Specificity
1 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB , (...)
View the complete list with 154 more genes
Specificity
1 %
Genes
100 % |
![]() 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 % |
![]() By Fulgent Genetics Fulgent Genetics (United States).
CARS2
Specificity
100 %
Genes
100 % |
You can get up to -3 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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