bromodomain and WD repeat domain containing 3
OMIM: 300553, Gene2Phenotype
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BRWD3 in Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth 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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BRWD3 in Fetal anomalies
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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BRWD3 in Rare syndromic craniosynostosis or isolated multisuture synostosis
Level 3: Craniosynostosis syndromes
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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BRWD3 in DDG2P
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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BRWD3 in Intellectual disability - microarray and sequencing
Level 3: Neurodevelopmental disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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BRWD3 in Severe Paediatric Disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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