emerin
OMIM: 300384, Gene2Phenotype
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EMD in Progressive cardiac conduction disease
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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EMD in Dilated Cardiomyopathy and conduction defects
Level 3: Cardiomyopathy
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
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EMD in Congenital muscular dystrophy
Level 3: Neuromuscular disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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EMD in Arthrogryposis
Level 3: Neuromuscular disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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EMD in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Level 3: Neuromuscular 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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EMD in Dilated and arrhythmogenic cardiomyopathy
Level 3: Cardiomyopathy
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
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EMD in Fetal anomalies
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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EMD in Hereditary neuropathy
Level 3: Motor and Sensory Disorders of the PNS
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review | Not set |
Sources
Phenotypes
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EMD in Paediatric or syndromic cardiomyopathy
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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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EMD in Hereditary neuropathy or pain disorder
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review | Not set |
Sources
Phenotypes
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EMD 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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