holocytochrome c synthase
OMIM: 300056, Gene2Phenotype
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HCCS in Glaucoma (developmental)
Level 3: Anterior segment abnormalities
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review | Not set |
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Phenotypes
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HCCS 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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HCCS in Bilateral congenital or childhood onset cataracts
Level 3: Anterior segment 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) |
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Phenotypes
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HCCS in Ocular coloboma
Level 3: Ocular malformations
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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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HCCS in Mosaic skin disorders - deep sequencing
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review | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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Phenotypes
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HCCS 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) |
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Phenotypes
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HCCS in Likely inborn error of metabolism - targeted testing not possible
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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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HCCS 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) |
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Phenotypes
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HCCS 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) |
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HCCS 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) |
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Phenotypes
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HCCS in Anophthalmia or microphthalmia
Level 3: Ocular malformations
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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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HCCS in Early onset or syndromic epilepsy
Level 3: Inherited Epilepsy Syndromes
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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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HCCS in Intellectual disability - microarray and sequencing
Level 3: Neurodevelopmental 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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HCCS in Mitochondrial disorders
Level 3: Mitochondrial
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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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HCCS in Retinal disorders
Level 3: Posterior segment 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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HCCS 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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HCCS in Childhood onset dystonia, chorea or related movement disorder
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review | Not set |
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HCCS in Severe Paediatric 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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