Distal 17p13.3 microdeletion syndrome |
Isolated cytochrome C oxidase deficiency |
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INTERACTOME ASSOCIATIONS (click on a score value to see the evidence) |
YWHAE
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Citations in the biomedical literature:
Distal 17p13.3 microdeletion syndrome |
Isolated cytochrome C oxidase deficiency |
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Synonym(s): - Distal del(17)(p13.3 ) - Distal monosomy 17p13.3
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Synonym(s): - Isolated COX deficiency - Isolated mitochondrial respiratory chain complex IV deficiency
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Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease
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Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease
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Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -
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Classification (ICD10): (no data available)
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Epidemiological data: (no data available)
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Epidemiological data: (no data available)
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External references: No OMIM references No MeSH references | |
External references: 1 OMIM reference - No MeSH references
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No signs/symptoms info available.