high mobility group box 3
OMIM: 300193, Gene2Phenotype
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HMGB3 in Ocular coloboma
Level 3: Ocular malformations
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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HMGB3 in DDG2P
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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HMGB3 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 |
Sources
Phenotypes
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HMGB3 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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