CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
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(OMIM:122860)
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Cap myopathy
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(Orphanet:171881)
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Combined oxidative phosphorylation defect type 7
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(Orphanet:254930)
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Corpus callosum agenesis - neuronopathy
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(Orphanet:1496)
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Craniodiaphyseal dysplasia
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(Orphanet:1513)
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FAZIO-LONDE DISEASE
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(OMIM:211500)
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LETHAL CONGENITAL CONTRACTURE SYNDROME 7
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(OMIM:616286)
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LETHAL CONGENITAL CONTRACTURE SYNDROME 8
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(OMIM:616287)
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MELAS
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(Orphanet:550)
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Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
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(Orphanet:1933)
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Mitochondrial DNA depletion syndrome, myopathic form
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(Orphanet:254875)
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Moebius syndrome
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(Orphanet:570)
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NEMALINE MYOPATHY 1
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(OMIM:609284)
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NEMALINE MYOPATHY 4
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(OMIM:609285)
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Steinert myotonic dystrophy
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(Orphanet:273)
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Tangier disease
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(Orphanet:31150)
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