COX7B
cytochrome c oxidase subunit 7B
OMIM: 300885, Gene2Phenotype
14 panels
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COX7B in Pigmentary skin disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Phenotypes
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COX7B in Mosaic skin disorders - deep sequencing
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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COX7B in Mitochondrial disorder with complex IV deficiency
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Phenotypes
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COX7B in Undiagnosed metabolic disorders
Level 3: Specific metabolic abnormalities
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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COX7B in Likely inborn error of metabolism
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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COX7B in Possible mitochondrial disorder - nuclear genes
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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COX7B in Ehlers Danlos syndrome with a likely monogenic cause
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review | Not set |
Sources
Phenotypes
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COX7B in Fetal anomalies
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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COX7B in DDG2P
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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COX7B in Intellectual disability
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Phenotypes
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COX7B in Mitochondrial disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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COX7B in Structural eye disease
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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COX7B in Paediatric or syndromic cardiomyopathy
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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COX7B in Childhood onset dystonia, chorea or related movement disorder
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review | Not set |
Sources
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