SE-ATLAS

Foix-Chavany-Marie-Syndrom Gliedergürtelmuskeldystrophie, autosomal-rezessive, durch Desmin-Mangel Spinale Muskelatrophie - Dandy-Walker-Malformation - Katarakte Emery-Dreifuss Muskeldystrophie, autosomal-dominante Emery-Dreifuss Muskeldystrophie, autosomal-rezessive Emery-Dreifuss Muskeldystrophie, X-chromosomale Spinale Muskelatrophie mit Atemnot Typ 2 Progressive Muskelatrophie Amyotrophe Lateralsklerose, juvenile Neuropathie, distale hereditäre motorische, X-chromosomale Alpha-Sarkoglykan assoziierte Gliedergürtelmuskeldystrophie R3 Spinale Muskelatrophie, proximale Muskeldystrophie Typ Becker Myopathie, okulo-pharyngo-distale Muskeldystrophie Typ Duchenne Myopathie, distale Distale Myopathie mit Stimmband- und Pharynxschwäche Myopathie, distale, Typ Welander Spinale Muskelatrophie, proximale, autosomal-dominante Muskeldystrophie, tibiale Bethlem-Myopathie Spinale Muskelatrophie mit Atemnot Typ 1 Neuropathie, distale kongenitale motorische, des jungen Erwachsenen Beta-Sarkoglykan-assoziierte Gliedergürtelmuskeldystrophie R4 Titin-assoziierte Gliedergürtelmuskeldystrophie R10 Spinale Muskelatrophie, infantile, X-chromosomale O'Sullivan-McLeod-Syndrom Gliedergürtelmuskeldystrophie, autosomale-rezessive Gliedergürtelmuskeldystrophie, autosomale-dominante Motoneuron-Krankheit Madras Muskelatrophie, scapuloperoneale spinale Amyotrophie, monomelische Neurogenes scapulo-peroneales Syndrom Typ Kaeser Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1H Muskeldystrophie X-chromosomale scapulo-peroneale Muskeldystrophie Gliedergürtelmuskeldystrophie durch POMK-Mangel Neuropathy, motorische, distale, hereditäre, autosomal-dominante TRAPPC11-assoziierte Gliedergürtelmuskeldystrophie R18 Amyotrophe Lateralsklerose Typ 4 Neuropathy, motorische, distale, hereditäre, autosomal-rezessive Kongenitale benigne spinale Muskelatrophie, autosomal-dominante Form Spinale Atrophie-Ophthalmoplegie-Pyramidenbahn-Symptomatik-Syndrom Motoneuronkrankheit Symptomatische Form der Muskeldystrophie Duchenne und Becker in weiblichen Trägerinnen Telethonin-assoziierte Gliedergürtelmuskeldystrophie R7 FKRP-assoziierte Gliedergürtelmuskeldystrophie R9 Alpha-B Crystallin-abhängige spät beginnende Myopathie DNAJB6-assoziierte Gliedergürtelmuskeldystrophie D1 Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1E Anoctamin-5-assoziierte Gliedergürtelmuskeldystrophie R12 Fukutin-assoziierte Gliedergürtelmuskeldystrophie R13 ISPD-assoziierte Gliedergürtelmuskeldystrophie R20 Delta-Sarkoglykan-assoziierte Gliedergürtelmuskeldystrophie R6 POMT2-assoziierte Gliedergürtelmuskeldystrophie R14 Distale Myopathie mit Beginn am vorderen Schienenbein POMGNT1-assoziierte Gliedergürtelmuskeldystrophie R15 Distale Myopathie der obere Extremitäten mit Beginn im Erwachsenenalter, Finnischer Typ KLHL9-abhängige distale Myopathie mit Beginn in der Kindheit Vorderhornerkrankung, autosomal-rezessive, des Kindes Distale Nebulin-Myopathie Anoctaminopathie, distale Myopathie, distale, Typ Laing Distale Myopathie durch VCP-Genmutation mit Beginn im Erwachsenenalter Emery-Dreifuss Muskeldystrophie Duchenne- und Becker-Muskeldystrophie Gliedergürtelmuskeldystrophie Neuropathie, distale hereditäre motorische, Typ 2 Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1B Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1C Alpha-Dystroglycan-assoziierte Gliedergürtelmuskeldystrophie R16 Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1A Calpain-3-assoziierte Gliedergürtelmuskeldystrophie R1 Dysferlin-related limb-girdle muscular dystrophy R2 Facioscapulohumeral dystrophy Oculopharyngeal muscular dystrophy Congenital muscular dystrophy, Fukuyama type Distal hereditary motor neuropathy type 5 Distal spinal muscular atrophy type 3 POMT1-related limb-girdle muscular dystrophy R11 X-linked myopathy with postural muscle atrophy Hereditary myopathy with early respiratory failure Distal hereditary motor neuropathy, Jerash type Amyotrophic lateral sclerosis X-linked distal spinal muscular atrophy type 3 Distal myopathy with posterior leg and anterior hand involvement TNP03-related limb-girdle muscular dystrophy D2 HNRNPDL-related limb-girdle muscular dystrophy D3 Infantile-onset ascending hereditary spastic paralysis Progressive muscular dystrophy Juvenile primary lateral sclerosis Autosomal dominant distal myopathy Autosomal recessive distal myopathy MYH7-related late-onset scapuloperoneal muscular dystrophy TOR1AIP1-related limb-girdle muscular dystrophy Distal hereditary motor neuropathy type 7 Oculogastrointestinal muscular dystrophy TRIM32-related limb-girdle muscular dystrophy R8 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 Primary lateral sclerosis Bulbospinal muscular atrophy Bulbospinal muscular atrophy of adult Bulbospinal muscular atrophy of childhood Generalized bulbospinal muscular atrophy Proximal spinal muscular atrophy type 1 Miyoshi myopathy Plectin-related limb-girdle muscular dystrophy R17 Parkinson-dementia complex of Guam Autosomal dominant childhood-onset proximal spinal muscular atrophy Autosomal dominant adult-onset proximal spinal muscular atrophy BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy Riboflavin transporter deficiency Lower motor neuron syndrome with late-adult onset Proximal spinal muscular atrophy type 3 Proximal spinal muscular atrophy type 2 Proximal spinal muscular atrophy type 4 Kennedy disease Progressive scapulohumeroperoneal distal myopathy Autosomal dominant intermediate Charcot-Marie-Tooth disease Hereditary motor and sensory neuropathy, Okinawa type Hereditary motor and sensory neuropathy with acrodystrophy Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Severe early-onset axonal neuropathy due to MFN2 deficiency Hereditary motor and sensory neuropathy type 6 Hereditary sensory and autonomic neuropathy type 6 Morvan syndrome Hereditary sensorimotor neuropathy with hyperelastic skin Charcot-Marie-Tooth disease type 2B5 Hereditary sensory and autonomic neuropathy type 1 Charcot-Marie-Tooth disease type 1E DNAJB2-related Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2B1 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons Roussy-Lévy syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2Q Autosomal recessive intermediate Charcot-Marie-Tooth disease Congenital insensitivity to pain-anosmia-neuropathic arthropathy Autosomal dominant Charcot-Marie-Tooth disease type 2O Autosomal dominant Charcot-Marie-Tooth disease type 2C Autosomal dominant Charcot-Marie-Tooth disease type 2B Autosomal dominant Charcot-Marie-Tooth disease type 2E Autosomal dominant Charcot-Marie-Tooth disease type 2D Autosomal dominant Charcot-Marie-Tooth disease type 2G Autosomal dominant Charcot-Marie-Tooth disease type 2F Autosomal dominant Charcot-Marie-Tooth disease type 2J Autosomal dominant Charcot-Marie-Tooth disease type 2I Autosomal dominant Charcot-Marie-Tooth disease type 2L Autosomal dominant Charcot-Marie-Tooth disease type 2K Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4G Hereditary thermosensitive neuropathy Hereditary neuropathy with liability to pressure palsies Autosomal dominant hereditary demyelinating motor and sensory neuropathy Autosomal dominant hereditary axonal motor and sensory neuropathy SURF1-related Charcot-Marie-Tooth disease type 4 Hereditary sensory and autonomic neuropathy Cerebellar ataxia with peripheral neuropathy Autosomal dominant hereditary sensory and autonomic neuropathy Autosomal dominant Charcot-Marie-Tooth disease type 2Y Autosomal recessive hereditary sensory and autonomic neuropathy Autosomal dominant slowed nerve conduction velocity X-linked Charcot-Marie-Tooth disease type 5 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C Autosomal dominant intermediate Charcot-Marie-Tooth disease type D X-linked Charcot-Marie-Tooth disease type 1 X-linked Charcot-Marie-Tooth disease type 3 X-linked Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 1D Hereditary sensory and autonomic neuropathy type 7 X-linked Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2H Spinocerebellar ataxia with axonal neuropathy type 2 Neuropathy with hearing impairment Refsum disease Autosomal recessive intermediate Charcot-Marie-Tooth disease type D Hereditary sensory and autonomic neuropathy type 1B X-linked hereditary sensory and autonomic neuropathy with deafness Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2N Autosomal dominant Charcot-Marie-Tooth disease type 2M Autosomal recessive axonal neuropathy with neuromyotonia Autosomal recessive intermediate Charcot-Marie-Tooth disease type B Autosomal recessive axonal hereditary motor and sensory neuropathy Autosomal dominant intermediate Charcot-Marie-Tooth disease type F Autosomal dominant Charcot-Marie-Tooth disease type 2U Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Autosomal dominant intermediate Charcot-Marie-Tooth disease type E Charcot-Marie-Tooth disease type 4B3 Hereditary sensory and autonomic neuropathy type 2 Microcephaly-complex motor and sensory axonal neuropathy syndrome Corpus callosum agenesis-neuronopathy syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2V Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 4C Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4B2 Hereditary sensory neuropathy-deafness-dementia syndrome Hereditary sensory and autonomic neuropathy type 4 Giant axonal neuropathy Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy Autosomal recessive hereditary demyelinating motor and sensory neuropathy Facial onset sensory and motor neuronopathy Charcot-Marie-Tooth disease type 2S Autosomal dominant intermediate Charcot-Marie-Tooth disease type A Autosomal dominant intermediate Charcot-Marie-Tooth disease type B Autosomal recessive intermediate Charcot-Marie-Tooth disease type C X-linked Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1B Autosomal recessive Charcot-Marie-Tooth disease with hoarseness Autosomal dominant Charcot-Marie-Tooth disease type 2 Dejerine-Sottas syndrome Charcot-Marie-Tooth disease type 4 Hereditary motor and sensory neuropathy type 5 Hereditary sensory and autonomic neuropathy type 5 Charcot-Marie-Tooth disease type 4J Distal hereditary motor neuropathy type 1 Infantile Refsum disease Charcot-Marie-Tooth disease type 2P PrP systemic amyloidosis Hereditary sensory and autonomic neuropathy with deafness and global delay Mutilating hereditary sensory neuropathy with spastic paraplegia Richards-Rundle syndrome X-linked Charcot-Marie-Tooth disease type 6 Spinocerebellar ataxia with axonal neuropathy type 1 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain