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-assoziierte Gliedergürtelmuskeldystrophie R1 Dysferlin-assoziierte Gliedergürtelmuskeldystrophie R2 Muskeldystrophie, fazio-skapulo-humerale Muskeldystrophie, okulopharyngeale Muskeldystrophie, kongenitale, Typ Fukuyama Neuropathie, distale hereditäre motorische, Typ 5 Spinale Muskelatrophie, distale, Typ 3 POMT1-assoziierte Gliedergürtelmuskeldystrophie R11 X-chromosomale Myopathie mit posturaler Muskelatrophie Hereditäre Myopathie mit frühem Atemversagen Neuropathie, distale hereditäre motorische, Typ Jerash Amyotrophe Lateralsklerose Spinale Muskelatrophie, distale, X-chromosomale, Typ 3 Distale Myopathie mit Beteiligung der posterioren Bein- und anterioren Handmuskulatur TNP03-assoziierte Gliedergürtelmuskeldystrophie D2 HNRNPDL-assoziierte Gliedergürtelmuskeldystrophie D3 Hereditäre Spastische Paralyse, aufsteigende, des frühen Kindesalters Muskeldystrophie, progressive Lateralsklerose, juvenile primäre Myopathie, distale, autosomal-dominante Myopathie, distale, autosomal-rezessive Scapulo-peroneale Muskeldystrophie, MYH7-abhängige, spät beginnende Form Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2Y Neuropathie, distale motorische, hereditäre, Typ 7 Okulo-gastro-intestinale Muskeldystrophie TRIM32-assoziierte Gliedergürtelmuskeldystrophie R8 Gamma-Sarkoglykan-assoziierte Gliedergürtelmuskeldystrophie R5 Lateralsklerose, primäre Muskelatrophie, bulbospinale Muskelatrophie, bulbospinale, des Erwachsenen Muskelatrophie, bulbospinale, des Kindes Muskelatrophie, bulbospinale generalisierte 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 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