PHD finger protein 6
OMIM: 300414, Gene2Phenotype
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PHF6 in Severe early-onset obesity
Level 3: Obesity 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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PHF6 in Pigmentary skin 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) |
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Phenotypes
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PHF6 in Cytopenias and congenital anaemias
Level 3: Anaemias and red cell disorders
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review | Unknown |
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Phenotypes
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PHF6 in Skeletal dysplasia
Level 3: Skeletal dysplasias
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review | Not set |
SourcesPhenotypes
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PHF6 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) |
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Phenotypes
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PHF6 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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PHF6 in Intellectual disability - microarray and sequencing
Level 3: Neurodevelopmental 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) |
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Phenotypes
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PHF6 in Severe Paediatric Disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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