Combined Oxidative Phosphorylation Deficiency 19; Coxpd19
Genes related to Combined Oxidative Phosphorylation Deficiency 19; Coxpd19
Clinical FeaturesTop most frequent phenotypes and symptoms related to Combined Oxidative Phosphorylation Deficiency 19; Coxpd19
- Generalized hypotonia
- Growth delay
- Failure to thrive
- Feeding difficulties
- Respiratory distress
- Gastroesophageal reflux
- Neonatal hypotonia
- Elevated hepatic transaminase
And another 3 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.
Researches and researchersCurrently, 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 19; Coxpd19 Recommended genes panels
|Panel Name, Specifity and genes Tested/covered|
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.
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
Combined oxidative phosphorylation deficiency type 19.
By Centogene AG - the Rare Disease Company (Germany).
Nuclear encoded Mitochondriopathies Panel.
By CeGaT GmbH (Germany).
RMRP, BCS1L, MRPL3, SACS, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC19A2, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC6A8, BTD , (...)
View the complete list with 260 more genes
You can get up to -5 more panels with our dedicated toolLearn more
Sources and references
You can check the following sources for additional information.OMIM Rare Disease Symptoms Checker
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THREE M SYNDROME 3; 3M3 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE ECTOPIA LENTIS ET PUPILLAE DENTAL ANOMALIES AND SHORT STATURE; DASS