cilia and flagella associated protein 47
OMIM: 301057,
ClinGen,
DECIPHER
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CFAP47 in Mendeliome
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3 reviews | 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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CFAP47 in Renal Macrocystic Disease
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1 review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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CFAP47 in Infertility and Recurrent Pregnancy Loss
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2 reviews | 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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