Autosomal dominant spastic paraplegia type 9
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(Orphanet:100990)
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DYGGVE-MELCHIOR-CLAUSEN DISEASE
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(OMIM:223800)
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DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED
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(OMIM:304950)
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Dyggve-Melchior-Clausen disease
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(Orphanet:239)
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Hurler-Scheie syndrome
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(Orphanet:93476)
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IVIC syndrome
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(Orphanet:2307)
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Metaphyseal dysostosis - intellectual deficit - conductive deafness
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(Orphanet:2502)
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Mucolipidosis type 2
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(Orphanet:576)
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Mucolipidosis type 3
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(Orphanet:577)
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Pseudoachondroplasia
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(Orphanet:750)
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Spondyloepimetaphyseal dysplasia with multiple dislocations
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(Orphanet:93360)
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Spondyloepimetaphyseal dysplasia, Geneviève type
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(Orphanet:168454)
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Spondyloepiphyseal dysplasia, Cantu type
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(Orphanet:163654)
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Spondylometaphyseal dysplasia, Kozlowski type
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(Orphanet:93314)
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Spondylometaphyseal dysplasia, Schmidt type
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(Orphanet:93316)
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Thrombocytopenia - absent radius
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(Orphanet:3320)
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Wolcott-Rallison syndrome
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(Orphanet:1667)
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