HUWE1
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
OMIM: 300697, Gene2Phenotype
4 panels
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HUWE1 in Fetal anomalies
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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HUWE1 in Rare syndromic craniosynostosis or isolated multisuture synostosis
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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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HUWE1 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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HUWE1 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) |
Sources
Phenotypes
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