RNF113A
ring finger protein 113A
OMIM: 300951, Gene2Phenotype
6 panels
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RNF113A in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
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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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RNF113A in White matter disorders and cerebral calcification - childhood onset
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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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RNF113A 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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RNF113A in DDG2P
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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RNF113A in Early onset or syndromic epilepsy
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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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RNF113A 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) |
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Phenotypes
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