ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED
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(OMIM:300158)
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Argininemia
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(Orphanet:90)
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Autosomal dominant Emery-Dreifuss muscular dystrophy
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(Orphanet:98853)
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Autosomal dominant limb-girdle muscular dystrophy type 1B
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(Orphanet:264)
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Autosomal recessive Emery-Dreifuss muscular dystrophy
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(Orphanet:98855)
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Autosomal recessive limb-girdle muscular dystrophy type 2P
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(Orphanet:280333)
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Autosomal recessive spastic paraplegia type 43
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(Orphanet:320370)
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Bethlem myopathy
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(Orphanet:610)
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Bruck syndrome
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(Orphanet:2771)
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Charcot-Marie-Tooth disease type 4J
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(Orphanet:139515)
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DPM1-CDG
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(Orphanet:79322)
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Frontometaphyseal dysplasia
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(Orphanet:1826)
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OTOONYCHOPERONEAL SYNDROME
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(OMIM:259780)
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ROBERTS SYNDROME
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(OMIM:268300)
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Roberts syndrome
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(Orphanet:3103)
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Torg-Winchester syndrome
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(Orphanet:3460)
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X-linked Emery-Dreifuss muscular dystrophy
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(Orphanet:98863)
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