ALZHEIMER DISEASE 3
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(OMIM:607822)
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AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
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(OMIM:612069)
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AMYOTROPHIC LATERAL SCLEROSIS 17
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(OMIM:614696)
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Action myoclonus - renal failure syndrome
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(Orphanet:163696)
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Adult-onset dystonia-parkinsonism
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(Orphanet:199351)
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Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
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(Orphanet:313808)
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Alpers syndrome
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(Orphanet:726)
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Autosomal recessive limb-girdle muscular dystrophy type 2Q
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(Orphanet:254361)
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Autosomal recessive lower motor neuron disease with childhood onset
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(Orphanet:206580)
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CLN11 disease
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(Orphanet:314629)
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CLN4B disease
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(Orphanet:228343)
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CLN7 disease
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(Orphanet:228366)
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Charcot-Marie-Tooth disease type 4A
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(Orphanet:99948)
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Congenital nephrotic syndrome, Finnish type
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(Orphanet:839)
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Creutzfeldt-Jakob disease
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(Orphanet:204)
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Distal myopathy with anterior tibial onset
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(Orphanet:178400)
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Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
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(Orphanet:93216)
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Familial steroid-resistant nephrotic syndrome with sensorineural deafness
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(Orphanet:280406)
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Fatal infantile hypertonic myofibrillar myopathy
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(Orphanet:280553)
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Frontotemporal dementia with motor neuron disease
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(Orphanet:275872)
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Gerstmann-Straussler-Scheinker syndrome
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(Orphanet:356)
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Juvenile parkinsonism with intellectual deficit due to DNAJC6 deficiency
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(Orphanet:352497)
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Kufor-Rakeb syndrome
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(Orphanet:306674)
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Lafora disease
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(Orphanet:501)
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MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION
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(OMIM:254100)
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MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET
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(OMIM:300718)
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Muscular dystrophy, Selcen type
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(Orphanet:199340)
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NEPHROTIC SYNDROME, TYPE 8
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(OMIM:615244)
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Neonatal acute respiratory distress with surfactant metabolism deficiency
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(Orphanet:217563)
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PARKINSON DISEASE 4, AUTOSOMAL DOMINANT
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(OMIM:605543)
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Pantothenate kinase-associated neurodegeneration
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(Orphanet:157850)
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Perry syndrome
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(Orphanet:178509)
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Reducing body myopathy
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(Orphanet:97239)
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