ectodysplasin A
OMIM: 300451, Gene2Phenotype
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EDA in Peeling skin syndrome
Level 3: Skin fragility disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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EDA in Epidermolysis bullosa and congenital skin fragility
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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EDA in Ectodermal dysplasia
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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EDA in Ectodermal dysplasia without a known gene mutation
Level 3: Ectodermal dysplasias
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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EDA in Rare genetic inflammatory skin disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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EDA 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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EDA in DDG2P
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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EDA in Intellectual disability
Level 3: Neurodevelopmental disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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EDA 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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