SE-ATLAS

Foix-Chavany-Marie syndrome Autosomal recessive limb-girdle muscular dystrophy type 2R Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome Autosomal dominant Emery-Dreifuss muscular dystrophy Autosomal recessive Emery-Dreifuss muscular dystrophy X-linked Emery-Dreifuss muscular dystrophy Spinal muscular atrophy with respiratory distress type 2 Progressive muscular atrophy Juvenile amyotrophic lateral sclerosis X-linked distal hereditary motor neuropathy Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 Proximal spinal muscular atrophy Becker muscular dystrophy Oculopharyngodistal myopathy Duchenne muscular dystrophy Distal myopathy Vocal cord and pharyngeal distal myopathy Distal myopathy, Welander type Autosomal dominant proximal spinal muscular atrophy Tibial muscular dystrophy Bethlem muscular dystrophy Spinal muscular atrophy with respiratory distress type 1 Young adult-onset distal hereditary motor neuropathy Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 Titin-related limb-girdle muscular dystrophy R10 Infantile-onset X-linked spinal muscular atrophy O'Sullivan-McLeod syndrome Autosomal recessive limb-girdle muscular dystrophy Autosomal dominant limb-girdle muscular dystrophy Madras motor neuron disease Scapuloperoneal spinal muscular atrophy Monomelic amyotrophy Neurogenic scapuloperoneal syndrome, Kaeser type Autosomal dominant limb-girdle muscular dystrophy type 1H Muscular dystrophy X-linked scapuloperoneal muscular dystrophy Limb-girdle muscular dystrophy due to POMK deficiency Autosomal dominant distal hereditary motor neuropathy TRAPPC11-related limb-girdle muscular dystrophy R18 Amyotrophic lateral sclerosis type 4 Autosomal recessive distal hereditary motor neuropathy Autosomal dominant congenital benign spinal muscular atrophy Spinal atrophy-ophthalmoplegia-pyramidal syndrome Motor neuron disease Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Telethonin-related limb-girdle muscular dystrophy R7 FKRP-related limb-girdle muscular dystrophy R9 Alpha-B crystallin-related late-onset myopathy DNAJB6-related limb-girdle muscular dystrophy D1 Autosomal dominant limb-girdle muscular dystrophy type 1E Anoctamin-5-related limb-girdle muscular dystrophy R12 Fukutin-related limb-girdle muscular dystrophy R13 ISPD-related limb-girdle muscular dystrophy R20 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 POMT2-related limb-girdle muscular dystrophy R14 Distal myopathy with anterior tibial onset POMGNT1-related limb-girdle muscular dystrophy R15 Finnish upper limb-onset distal myopathy KLHL9-related early-onset distal myopathy Autosomal recessive lower motor neuron disease with childhood onset Distal nebulin myopathy Distal anoctaminopathy Laing early-onset distal myopathy Adult-onset distal myopathy due to VCP mutation Emery-Dreifuss muscular dystrophy Duchenne and Becker muscular dystrophy Limb-girdle muscular dystrophy Distal hereditary motor neuropathy type 2 Autosomal dominant limb-girdle muscular dystrophy type 1B Autosomal dominant limb-girdle muscular dystrophy type 1C Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 Autosomal dominant limb-girdle muscular dystrophy type 1A Calpain-3-related limb-girdle muscular dystrophy 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 Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2A1 Charcot-Marie-Tooth-Krankheit Typ 4A Charcot-Marie-Tooth-Krankheit Typ 4D Charcot-Marie-Tooth-Krankheit Typ 4G Neuropathie, hereditäre thermosensitive Hereditäre Neuropathie mit Neigung zu Drucklähmungen Neuropathie, motorische und sensorische, demyelinisierende, hereditäre, autosomal-dominante Autosomal-dominante axonale hereditäre motorisch-sensorische Neuropathie SURF1-abhängige Charcot-Marie-Tooth-Krankheit Typ 4 Hereditäre sensorische und autonome Neuropathie Kleinhirnataxie mit peripherer Neuropathie Neuropathie, autonome hereditäre sensorische, autosomal-dominant Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2Y Neuropathie, autonome hereditäre sensorische,autosomal-rezessiv Verlangsamte Nervenleitgeschwindigkeit, autosomal-dominante Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 5 Charcot-Marie-Tooth-Krankheit, autosomal-dominante, intermediäre, Typ C Charcot-Marie-Tooth-Krankheit, autosomal-dominante, intermediäre, Typ D Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 1 Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 3 Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 2 Charcot-Marie-Tooth-Krankheit Typ 1 Charcot-Marie-Tooth-Krankheit Typ 1F Charcot-Marie-Tooth-Krankheit Typ 1D Neuropathie, autonome hereditäre sensorische, Typ 7 X-chromosomale Charcot-Marie-Tooth-Krankheit Charcot-Marie-Tooth-Krankheit Typ 2B2 Charcot-Marie-Tooth-Krankheit Typ 2H Spinozerebelläre Ataxie mit axonaler Neuropathie Typ 2 Neuropathie mit Schwerhörigkeit Refsum-Krankheit Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, intermediäre, Typ D Neuropathie, autonome hereditäre sensorische, Typ 1B Hereditäre sensorische und autonome Neuropathie mit Taubheit, X-chromosomal Polyneuropathie - Hörverlust - Ataxie - Retinitis pigmentosa - Katarakt Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2N Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2M Axonale Neuropathie mit Neuromyotonie, autosomal-rezessiv Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, intermediäre, Typ B Autosomal-rezessive axonale hereditäre motorisch-sensorische Neuropathie Charcot-Marie-Tooth-Krankheit, dominant-intermediäre, Typ F Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2U Periphere Neuropathie-Myopathie-Heiserkeit-Hörverlust-Syndrom Charcot-Marie-Tooth-Krankheit, autosomal-dominante, intermediäre, Typ E Charcot-Marie-Tooth-Krankheit Typ 4B3 Neuropathie, autonome hereditäre sensorische, Typ 2 Mikrozephalie - komplexe motorische und sensorische axonale Neuropathie Corpus callosum-Agenesie-Neuropathie-Syndrom Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2V Charcot-Marie-Tooth-Krankheit-Schwerhörigkeit-Intelligenzminderung-Syndrom Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2A2 Charcot-Marie-Tooth-Krankheit Typ 4C Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, durch TFG-Genmutation Charcot-Marie-Tooth-Krankheit Typ 4E Charcot-Marie-Tooth-Krankheit Typ 4F Charcot-Marie-Tooth-Krankheit Typ 4B1 Charcot-Marie-Tooth-Krankheit Typ 4H Charcot-Marie-Tooth-Krankheit Typ 4B2 Hereditäre sensorische Neuropathie-sensorineurale Schwerhörigkeit-Demenz-Syndrom Neuropathie, autonome hereditäre sensorische, Typ 4 Riesenaxon-Neuropathie Charcot-Marie-Tooth-Krankheit Typ 2R Charcot-Marie-Tooth-Krankheit/Hereditäre motorische und sensorische Neuropathie Neuropathie, motorische und sensorische, demyelinisierende, hereditäre, autosomal-rezessive Neuropathie, fazial beginnende, sensorische und motorische Charcot-Marie-Tooth-Krankheit Typ 2S Charcot-Marie-Tooth-Krankheit, autosomal-dominante, intermediäre, Typ A Charcot-Marie-Tooth-Krankheit, autosomal-dominante, intermediäre, Typ B Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, intermediäre, Typ C Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 4 Charcot-Marie-Tooth-Krankheit Typ 1A Charcot-Marie-Tooth-Krankheit Typ 1C Charcot-Marie-Tooth-Krankheit Typ 1B Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, mit Heiserkeit Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2 Dejerine-Sottas-Syndrom Charcot-Marie-Tooth-Krankheit Typ 4 Neuropathie, hereditäre motorisch-sensorische, Typ 5 Neuropathie, autonome hereditäre sensorische, Typ 5 Charcot-Marie-Tooth-Krankheit Typ 4J Neuropathie, distale hereditäre motorische, Typ 1 Refsum-Krankheit, infantile Form Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2P PrP-Amyloidose, systemische Hereditäre sensorische und autonome Neuropathie mit Taubheit und allgemeiner Entwicklungsverzögerung Mutilierende hereditäre sensorische Neuropathie mit spastischer Paraplegie Richards-Rundle-Syndrom Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 6 Ataxie, spinozerebelläre mit axonaler Neuropathie, Typ 1 Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, intermediäre, Typ A Charcot-Marie-Tooth-Krankheit, dominant-intermediäre, mit neuropathischem Schmerz