Acro-renal-ocular syndrome
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(Orphanet:959)
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CEDNIK syndrome
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(Orphanet:66631)
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CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
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(OMIM:614437)
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Diaphragmatic defect - limb deficiency - skull defect
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(Orphanet:2141)
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ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNELDEFICIENCY
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(OMIM:614520)
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Hirsutism - skeletal dysplasia - intellectual deficit
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(Orphanet:2156)
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Intellectual deficit, X-linked, Snyder type
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(Orphanet:3063)
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Mulibrey nanism
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(Orphanet:2576)
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Okihiro syndrome
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(Orphanet:93293)
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Peroxisomal acyl-CoA oxidase deficiency
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(Orphanet:2971)
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X-linked intellectual deficit, Najm type
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(Orphanet:163937)
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