APNEA, OBSTRUCTIVE SLEEP
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(OMIM:107650)
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Autosomal dominant Charcot-Marie-Tooth disease type 2C
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(Orphanet:99937)
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Costello syndrome
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(Orphanet:3071)
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Dysosteosclerosis
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(Orphanet:1782)
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Familial long QT syndrome
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(Orphanet:768)
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Hallermann-Streiff syndrome
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(Orphanet:2108)
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Hurler syndrome
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(Orphanet:93473)
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Hurler-Scheie syndrome
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(Orphanet:93476)
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MARFANOID HABITUS WITH SITUS INVERSUS
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(OMIM:609008)
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Marshall-Smith syndrome
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(Orphanet:561)
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Mitochondrial DNA deletion syndrome with progressive myopathy
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(Orphanet:352470)
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Mucopolysaccharidosis type 2
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(Orphanet:580)
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Rubinstein-Taybi syndrome due to CREBBP mutations
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(Orphanet:353277)
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Scheie syndrome
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(Orphanet:93474)
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Shprintzen-Goldberg syndrome
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(Orphanet:2462)
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XIA-GIBBS SYNDROME
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(OMIM:615829)
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