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.
And another 22 symptoms. If you need more information about this disease we can help you.
Combined Oxidative Phosphorylation Defect Type 15 Is also known as coxpd15.
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 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 TANGIER DISEASE JOUBERT SYNDROME 32; JBTS32 BARTTER SYNDROME, TYPE 3; BARTS3 DOYNE HONEYCOMB RETINAL DYSTROPHY; DHRD HEIMLER SYNDROME 1; HMLR1