Adult polyglucosan body disease
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(Orphanet:206583)
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ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY
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(OMIM:615924)
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FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1
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(OMIM:105550)
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Frontotemporal dementia with motor neuron disease
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(Orphanet:275872)
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Hyperlysinemia, type I
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(OMIM:238700)
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Multiple acyl-CoA dehydrogenase deficiency
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(Orphanet:26791)
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Necrotizing encephalomyelopathy, subacute, of Leigh, adult
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(OMIM:161700)
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OCULODENTODIGITAL DYSPLASIA
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(OMIM:164200)
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Oculodentodigital dysplasia
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(Orphanet:2710)
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PAGET DISEASE OF BONE
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(OMIM:602080)
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PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE
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(OMIM:608097)
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PORENCEPHALY 1
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(OMIM:175780)
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Porencephaly
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(Orphanet:2940)
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Purine nucleoside phosphorylase deficiency
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(Orphanet:760)
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Spondyloepiphyseal dysplasia, Reardon type
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(Orphanet:163662)
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