SE-ATLAS

Autosomal dominant Emery-Dreifuss muscular dystrophy Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 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 Autosomal recessive limb-girdle muscular dystrophy type 2R 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 Congenital insensitivity to pain-anosmia-neuropathic arthropathy Autosomal dominant Charcot-Marie-Tooth disease type 2C Autosomal dominant Charcot-Marie-Tooth disease type 2B Autosomal dominant Charcot-Marie-Tooth disease type 2F Charcot-Marie-Tooth disease type 4A Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4G 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 thermosensitive neuropathy Hereditary neuropathy with liability to pressure palsies 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 dominant hereditary demyelinating motor and sensory neuropathy Autosomal recessive hereditary demyelinating motor and sensory neuropathy Autosomal dominant hereditary axonal motor and sensory neuropathy Facial onset sensory and motor neuronopathy 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 Charcot-Marie-Tooth disease type 2S Autosomal dominant intermediate Charcot-Marie-Tooth disease type A 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 X-linked Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 1D Hereditary sensory and autonomic neuropathy type 7 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness Autosomal dominant Charcot-Marie-Tooth disease type 2 X-linked Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2B2 Dejerine-Sottas syndrome Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 2H Hereditary motor and sensory neuropathy type 5 Hereditary sensory and autonomic neuropathy type 5 Spinocerebellar ataxia with axonal neuropathy type 2 Charcot-Marie-Tooth disease type 4J Neuropathy with hearing impairment Distal hereditary motor neuropathy type 1 Infantile Refsum disease Refsum disease Autosomal recessive intermediate Charcot-Marie-Tooth disease type D Charcot-Marie-Tooth disease type 2P PrP systemic amyloidosis 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 Hereditary sensory and autonomic neuropathy type 1B Infantile-onset ascending hereditary spastic paralysis Progressive muscular dystrophy Juvenile primary lateral sclerosis Hereditary sensory and autonomic neuropathy with deafness and global delay Mutilating hereditary sensory neuropathy with spastic paraplegia Autosomal dominant distal myopathy X-linked hereditary sensory and autonomic neuropathy with deafness Autosomal recessive distal myopathy MYH7-related late-onset scapuloperoneal muscular dystrophy TOR1AIP1-related limb-girdle muscular dystrophy Distal hereditary motor neuropathy type 7 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome Maladie de Charcot-Marie-Tooth autosomique dominante type 2N Maladie de Charcot-Marie-Tooth autosomique dominante type 2M Dystrophie musculaire oculo-gastro-intestinale Dystrophie musculaire des ceintures associée à TRIM32 R8 Neuropathie axonale autosomique récessive avec neuromyotonie Dystrophie musculaire des ceintures liée au gamma-sarcoglycane R5 Sclérose latérale primitive Amyotrophie bulbospinale Amyotrophie bulbospinale de l'adulte Amyotrophie bulbospinale de l'enfant Amyotrophie spinale généralisée Maladie de Charcot-Marie-Tooth intermédiaire autosomique récessive type B Amyotrophie spinale proximale type 1 Myopathie distale type Miyoshi Neuropathie sensitivo-motrice axonale héréditaire autosomique récessive Dystrophie musculaire des ceintures liée à la plectine R17 Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante type F Maladie de Charcot-Marie-Tooth autosomique dominante type 2U Complexe Parkinson-démence de Guam Amyotrophie spinale proximale autosomique dominante de l'enfance Amyotrophie spinale proximale autosomique dominante de l'adulte Syndrome de neuropathie périphérique-myopathie-raucité de la voix-surdité Amyotrophie spinale proximale autosomique dominante de l'enfance associée à BICD2 Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante E Amyotrophie spinale proximale autosomique dominante de l'enfance associée à DYNC1H1 Maladie de Charcot-Marie-Tooth type 4B3 Neuropathie héréditaire sensitive et autonomique type 2 Déficit en transporteur de la riboflavine Syndrome de microcephalie-neuropathie sensitivo-motrice axonale complexe Syndrome du motoneurone inférieur, forme tardive de l'adulte Syndrome d'agénesie du corps calleux-neuropathie Amyotrophie spinale proximale type 3 Maladie de Charcot-Marie-Tooth autosomique dominante type 2V Amyotrophie spinale proximale type 2 Maladie de Charcot-Marie-Tooth liée à l'X type 6 Syndrome d'ataxie spinocérébelleuse-neuropathie axonale type 1 Maladie de Charcot-Marie-Tooth intermédiaire autosomique récessive type A Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante avec douleurs neuropathiques Syndrome de Richards-Rundle Dystrophie musculaire d'Emery-Dreifuss liée à l'X Maladie de Charcot-Marie-Tooth autosomique dominante type 2Q Maladie de Charcot-Marie-Tooth intermédiaire autosomique récessive Neuropathie motrice distale héréditaire liée à l'X Maladie de Charcot-Marie-Tooth autosomique dominante type 2A2 Maladie de Charcot-Marie-Tooth type 4C Amyotrophie spinale proximale type 4 Syndrome de maladie de Charcot-Marie-Tooth-surdité-déficience intellectuelle Maladie de Charcot-Marie-Tooth autosomique dominante type 2 avec axones géants Maladie de Charcot-Marie-Tooth autosomique dominante type 2J Maladie de Charcot-Marie-Tooth autosomique dominante type 2I Maladie de Charcot-Marie-Tooth autosomique dominante type 2L Maladie de Charcot-Marie-Tooth autosomique dominante type 2K Maladie de Charcot-Marie-Tooth autosomique dominante type 2A1 Syndrome de Foix-Chavany-Marie Maladie de Charcot-Marie-Tooth autosomique dominante type 2 due à une mutation de KIF5A Maladie de Kennedy Myopathie distale scapulohuméropéronière progressive Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante Neuropathie sensitivo-motrice héréditaire type Okinawa Neuropathie sensitivo-motrice axonale héréditaire avec acrodystrophie Syndrome d'amyotrophie spinale-malformation de Dandy-Walker-cataracte Dystrophie musculaire d'Emery-Dreifuss autosomique récessive Maladie de Charcot-Marie-Tooth type 2B1 Syndrome de Roussy-Lévy Amyotrophie spinale avec détresse respiratoire type 2 Atrophie musculaire progressive Sclérose latérale amyotrophique juvénile Amyotrophie spinale proximale Maladie de Charcot-Marie-Tooth autosomique dominante type 2O Dystrophie musculaire de Becker Myopathie oculo-pharyngo-distale Dystrophie musculaire de Duchenne Myopathie distale Myopathie distale avec faiblesse des cordes vocales Myopathie distale type Welander Maladie de Charcot-Marie-Tooth autosomique dominante type 2E Maladie de Charcot-Marie-Tooth autosomique dominante type 2D Maladie de Charcot-Marie-Tooth autosomique dominante type 2G Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante B Maladie de Charcot-Marie-Tooth intermédiaire autosomique récessive type C