GM1 gangliosidosis type 2
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(Orphanet:79256)
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GM1 gangliosidosis type 3
|
(Orphanet:79257)
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Hypodontia - dysplasia of nails
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(Orphanet:2228)
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MESOMELIC DWARFISM OF HYPOPLASTIC TIBIA AND RADIUS TYPE
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(OMIM:156230)
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METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
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(OMIM:250460)
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Mesomelic dwarfism, Reinhardt-Pfeiffer type
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(Orphanet:2634)
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Spondylometaphyseal dysplasia - cone-rod dystrophy
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(Orphanet:85167)
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Spondylometaphyseal dysplasia, Kozlowski type
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(Orphanet:93314)
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X-linked spondyloepimetaphyseal dysplasia
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(Orphanet:93349)
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