Adducted thumbs - arthrogryposis, Christian type
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(Orphanet:2952)
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BROWN-VIALETTO-VAN LAERE SYNDROME 1
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(OMIM:211530)
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Barth syndrome
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(Orphanet:111)
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CHROMOSOME 15q25 DELETION SYNDROME
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(OMIM:614294)
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Congenital multicore myopathy with external ophthalmoplegia
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(Orphanet:98905)
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Congenital muscular dystrophy with intellectual disability and severe epilepsy
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(Orphanet:329178)
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Congenital myopathy with excess of thin filaments
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(Orphanet:98904)
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Early-onset myopathy with fatal cardiomyopathy
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(Orphanet:289377)
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Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
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(Orphanet:137681)
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Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
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(Orphanet:79091)
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Hyaline body myopathy
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(Orphanet:53698)
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MARFANOID HABITUS WITH SITUS INVERSUS
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(OMIM:609008)
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MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
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(OMIM:616158)
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MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14
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(OMIM:615351)
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Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
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(Orphanet:254864)
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Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1
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(OMIM:600462)
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NEMALINE MYOPATHY 2
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(OMIM:256030)
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NEMALINE MYOPATHY 4
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(OMIM:609285)
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Native American myopathy
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(Orphanet:168572)
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Nemaline myopathy
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(Orphanet:607)
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Noonan syndrome
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(Orphanet:648)
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Oculopharyngodistal myopathy
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(Orphanet:98897)
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Riboflavin transporter deficiency
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(Orphanet:97229)
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TEMPLE-BARAITSER SYNDROME
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(OMIM:611816)
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X-linked creatine transporter deficiency
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(Orphanet:52503)
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X-linked distal arthrogryposis multiplex congenita
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(Orphanet:1145)
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