Ablepharon macrostomia syndrome
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(Orphanet:920)
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Ankyloblepharon - ectodermal defects - cleft lip/palate
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(Orphanet:1071)
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Bartsocas-Papas syndrome
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(Orphanet:1234)
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Cardiofaciocutaneous syndrome
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(Orphanet:1340)
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ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE
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(OMIM:602032)
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FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE
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(OMIM:227260)
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Fraser syndrome
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(Orphanet:2052)
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Glomerulonephritis - sparse hair - telangiectasis
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(Orphanet:2087)
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Hypotrichosis - lymphedema - telangiectasia
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(Orphanet:69735)
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ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
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(OMIM:602540)
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Ichthyosis follicularis - alopecia - photophobia
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(Orphanet:2273)
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Keratosis follicularis - dwarfism - cerebral atrophy
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(Orphanet:2339)
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Neu-Laxova syndrome
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(Orphanet:2671)
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Neuroectodermal syndrome, Johnson type
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(Orphanet:2316)
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PARC syndrome
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(Orphanet:2825)
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Pseudoprogeria syndrome
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(Orphanet:2985)
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Pure hair and nail ectodermal dysplasia
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(Orphanet:69084)
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Spastic paraplegia - neuropathy - poikiloderma
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(Orphanet:2821)
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