myotubularin 1
OMIM: 300415, Gene2Phenotype
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MTM1 in Hydrocephalus
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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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MTM1 in Other rare neuromuscular disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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MTM1 in Arthrogryposis
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) |
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Phenotypes
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MTM1 in Congenital myopathy
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) |
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Phenotypes
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MTM1 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) |
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Phenotypes
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MTM1 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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MTM1 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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MTM1 in Intellectual disability - microarray and sequencing
Level 3: Neurodevelopmental disorders
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review | Not set |
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Phenotypes
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MTM1 in Severe Paediatric 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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