Acrocapitofemoral dysplasia
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(Orphanet:63446)
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Apert syndrome
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(Orphanet:87)
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Autosomal dominant brachyolmia
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(Orphanet:93304)
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Brachyolmia type 1, Hobaek type
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(Orphanet:93301)
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CHST3-related skeletal dysplasia
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(Orphanet:263463)
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CYSTINOSIS, NEPHROPATHIC
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(OMIM:219800)
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Coffin-Lowry syndrome
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(Orphanet:192)
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DK1-CDG
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(Orphanet:91131)
|
OSTEOGENESIS IMPERFECTA, TYPE V
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(OMIM:610967)
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OSTEOGENESIS IMPERFECTA, TYPE VII
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(OMIM:610682)
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OSTEOGENESIS IMPERFECTA, TYPE XI
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(OMIM:610968)
|
Prader-Willi syndrome
|
(Orphanet:739)
|
Spondyloepiphyseal dysplasia, Cantu type
|
(Orphanet:163654)
|
TRICHORHINOPHALANGEAL SYNDROME, TYPE I
|
(OMIM:190350)
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TRICHORHINOPHALANGEAL SYNDROME, TYPE III
|
(OMIM:190351)
|