PHEX
phosphate regulating endopeptidase homolog X-linked
OMIM: 300550, Gene2Phenotype
8 panels
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PHEX in Hypophosphataemia or rickets
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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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PHEX in Nephrocalcinosis or nephrolithiasis
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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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PHEX in Skeletal dysplasia
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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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PHEX in Fetal anomalies
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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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PHEX 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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PHEX in Osteogenesis imperfecta
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review | Not set |
Sources
Phenotypes
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PHEX 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) |
Sources
Phenotypes
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PHEX in Monogenic hearing loss
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review | Not set |
Sources
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