MTM1
myotubularin 1
OMIM: 300415, Gene2Phenotype
7 panels
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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) |
Sources
Phenotypes
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MTM1 in Arthrogryposis
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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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MTM1 in Congenital myopathy
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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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MTM1 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
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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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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) |
Sources
Phenotypes
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MTM1 in DDG2P
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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MTM1 in Intellectual disability
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review | Not set |
Sources
Phenotypes
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