phosphate regulating endopeptidase homolog X-linked
OMIM: 300550, Gene2Phenotype
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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) |
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Phenotypes
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PHEX in Nephrocalcinosis or nephrolithiasis
Level 3: Disorders of function
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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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PHEX in Skeletal dysplasia
Level 3: Skeletal dysplasias
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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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PHEX in Unexplained young onset end-stage renal 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) |
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Phenotypes
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PHEX in Rare syndromic craniosynostosis or isolated multisuture synostosis
Level 3: Craniosynostosis syndromes
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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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PHEX in Osteogenesis imperfecta
Level 3: Skeletal dysplasias
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review | Not set |
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Phenotypes
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PHEX in Monogenic hearing loss
Level 3: Non-syndromic hearing loss
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review | Not set |
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PHEX in Severe Paediatric Disorders
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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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