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 Spinale Muskelatrophie, proximale, Typ 1 Miyoshi-Myopathie Plectin-assoziierte Gliedergürtelmuskeldystrophie R17 Guam-Parkinson-Demenz-Komplex Proximale spinale Muskelatrophie mit Beginn im Kindesalter, autosomal-dominant Proximale spinale Muskelatrophie mit Beginn im Erwachsenenalter, autosomal-dominante BICD2-assoziierte proximale spinale Muskelatrophie mit Beginn im Kindesalter, autosomal-dominant DYNC1H1-assoziierte autosomal-dominante im Kindesalter beginnende proximale spinale Muskelatrophie Riboflavin-Transporter-Defizienz Untere Vorderhornerkrankung mit Beginn im späten Erwachsenenalter Spinale Muskelatrophie, proximale, Typ 3 Spinale Muskelatrophie, proximale, Typ 2 Spinale Muskelatrophie, proximale, Typ 4 Kennedy-Krankheit Progressive skapulo-humerale peroneale distale Myopathie Charcot-Marie-Tooth-Krankheit, dominant-intermediäre Neuropathie, hereditäre motorisch-sensorische, Typ Okinawa Neuropathie, hereditäre motorisch-sensorische, mit Akrodystrophie Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, durch KIF5A-Genmutation Schwere früh-beginnende axonale Neuropathie durch MFN2-Mangel Neuropathie, hereditäre motorisch-sensorische, Typ 6 Neuropathie, autonome hereditäre sensorische, Typ 6 Morvan-Syndrom Sensorimotorische Neuropathie mit hyperelastischer Haut, hereditäre Form Charcot-Marie-Tooth-Krankheit Typ 2B5 Neuropathie, autonome hereditäre sensorische, Typ 1 Charcot-Marie-Tooth-Krankheit Typ 1E Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, Typ 2, DNAJB2-assoziierte Charcot-Marie-Tooth-Krankheit Typ 2B1 Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, mit Riesen-Axonen Roussy-Lévy-Syndrom Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2Q Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, intermediäre Kongenitale Schmerzunempfindlichkeit mit Anosmie und neuropathischer Arthropathie Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2O Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2C Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2B Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2E Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2D Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2G Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2F Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2J Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2I Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2L Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 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 Maladie de Charcot-Marie-Tooth autosomique dominante type 2Y Neuropathie sensitive et autonomique héréditaire autosomique récessive Ralentissement de la vitesse de conduction nerveuse, forme autosomique dominante Maladie de Charcot-Marie-Tooth liée à l'X type 5 Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante C Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante D Maladie de Charcot-Marie-Tooth liée à l'X type 1 Maladie de Charcot-Marie-Tooth liée à l'X type 3 Maladie de Charcot-Marie-Tooth liée à l'X type 2 Maladie de Charcot-Marie-Tooth type 1 Maladie de Charcot-Marie-Tooth type 1F Maladie de Charcot-Marie-Tooth type 1D Neuropathie héréditaire sensitive et autonomique type 7 Maladie de Charcot-Marie-Tooth liée à l'X Maladie de Charcot-Marie-Tooth type 2B2 Maladie de Charcot-Marie-Tooth type 2H Syndrome d'ataxie spinocérébelleuse-neuropathie axonale type 2 Neuropathie avec trouble de l'audition Maladie de Refsum Maladie de Charcot-Marie-Tooth intermédiaire autosomique récessive type D Neuropathie héréditaire sensitive et autonomique type 1B Neuropathie héréditaire sensitive et autonomique liée à l'X avec surdité Syndrome de polyneuropathie-surdité-ataxie-rétinite pigmentaire-cataracte Maladie de Charcot-Marie-Tooth autosomique dominante type 2N Maladie de Charcot-Marie-Tooth autosomique dominante type 2M Neuropathie axonale autosomique récessive avec neuromyotonie Maladie de Charcot-Marie-Tooth intermédiaire autosomique récessive type B Neuropathie sensitivo-motrice axonale héréditaire autosomique récessive Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante type F Maladie de Charcot-Marie-Tooth autosomique dominante type 2U Syndrome de neuropathie périphérique-myopathie-raucité de la voix-surdité Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante E Maladie de Charcot-Marie-Tooth type 4B3 Neuropathie héréditaire sensitive et autonomique type 2 Syndrome de microcephalie-neuropathie sensitivo-motrice axonale complexe Syndrome d'agénesie du corps calleux-neuropathie Maladie de Charcot-Marie-Tooth autosomique dominante type 2V Syndrome de maladie de Charcot-Marie-Tooth-surdité-déficience intellectuelle Maladie de Charcot-Marie-Tooth autosomique dominante type 2A2 Maladie de Charcot-Marie-Tooth type 4C Maladie de Charcot-Marie-Tooth autosomique dominante type 2 due à une mutation de TFG Maladie de Charcot-Marie-Tooth type 4E Maladie de Charcot-Marie-Tooth type 4F Maladie de Charcot-Marie-Tooth type 4B1 Maladie de Charcot-Marie-Tooth type 4H Maladie de Charcot-Marie-Tooth type 4B2 Syndrome de neuropathie sensorielle-surdité-démence Neuropathie héréditaire sensitive et autonomique type 4 Neuropathie à axones géants Maladie de Charcot-Marie-Tooth type 2R Maladie de Charcot-Marie-Tooth/Neuropathie sensitivo-motrice héréditaire Neuropathie sensitivo-motrice démyélinisante héréditaire autosomique récessive Neuronopathie motrice et sensorielle à début facial Maladie de Charcot-Marie-Tooth type 2S Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante 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