BRUCK SYNDROME 1
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(OMIM:259450)
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Connective tissue disorder due to lysyl hydroxylase-3 deficiency
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(Orphanet:300284)
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ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE
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(OMIM:602032)
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ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE
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(OMIM:614929)
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Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
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(Orphanet:238763)
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HYPOTRICHOSIS 7
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(OMIM:604379)
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HYPOTRICHOSIS 8
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(OMIM:278150)
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Hidrotic ectodermal dysplasia
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(Orphanet:189)
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Hidrotic ectodermal dysplasia, Christianson-Fourie type
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(Orphanet:1808)
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Hypopigmentation-punctate palmoplantar keratoderma syndrome
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(Orphanet:324561)
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Hypotrichosis - lymphedema - telangiectasia
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(Orphanet:69735)
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Hypotrichosis with juvenile macular degeneration
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(Orphanet:1573)
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OSTEOGENESIS IMPERFECTA, TYPE I
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(OMIM:166200)
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OSTEOGENESIS IMPERFECTA, TYPE V
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(OMIM:610967)
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Spondyloepimetaphyseal dysplasia - hypotrichosis
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(Orphanet:168443)
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