Combined Oxidative Phosphorylation Defect Type 15
Description
Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.
Genes related to Combined Oxidative Phosphorylation Defect Type 15
- MTFMT
Clinical Features
Top most frequent phenotypes and symptoms related to Combined Oxidative Phosphorylation Defect Type 15
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
- Ataxia
- Nystagmus
- Strabismus
- Spasticity
- Cognitive impairment
And another 22 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 15 Is also known as coxpd15.
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 15 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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![]() By Baylor Miraca Genetics Laboratories (United States).
MTFMT
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
MTFMT
Specificity
100 %
Genes
100 % |
![]() By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A , (...)
View the complete list with 173 more genes
Specificity
1 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)
View the complete list with 457 more genes
Specificity
1 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
MTFMT
Specificity
100 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
MTFMT
Specificity
100 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
SCP2, AIMP1, SDHB, SLC16A2, SLC17A5, SLC25A1, SLC25A12, SLC25A4, SOX10, SPG11, SPG7, SUCLA2, SURF1, TWNK, ACOX1, TREX1, TUFM, TYROBP, WARS2, MCOLN1 , (...)
View the complete list with 135 more genes
Specificity
1 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
NDUFAF5, NDUFA13, NDUFAF1, NUBPL, NDUFA11, NDUFAF4, ACAD9, NDUFA12, FOXRED1, NDUFAF2, NDUFAF6, MTFMT, NDUFAF3, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFB9, NDUFS1 , (...)
View the complete list with 9 more genes
Specificity
4 %
Genes
100 % |
You can get up to 22 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like STARGARDT DISEASE 4; STGD4 HEPATOERYTHROPOIETIC PORPHYRIA 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP