BCL6 corepressor
OMIM: 300485, Gene2Phenotype
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BCOR in Glaucoma (developmental)
Level 3: Anterior segment abnormalities
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review | Not set |
Sources
Phenotypes
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BCOR 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) |
Sources
Phenotypes
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BCOR in Cytopenias and congenital anaemias
Level 3: Anaemias and red cell disorders
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review | Unknown |
Sources
Phenotypes
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BCOR 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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BCOR 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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BCOR in Clefting
Level 3: Dysmorphic 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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BCOR 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) |
Sources
Phenotypes
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BCOR 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) |
Sources
Phenotypes
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BCOR in Retinal disorders
Level 3: Posterior segment abnormalities
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review | Not set |
Sources
Phenotypes
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BCOR 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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BCOR 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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