|
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE
|
(OMIM:614373)
|
|
AMYOTROPHIC LATERAL SCLEROSIS 5
|
(OMIM:602099)
|
|
ANGIOMA SERPIGINOSUM, X-LINKED
|
(OMIM:300652)
|
|
Alpha-crystallinopathy
|
(Orphanet:98910)
|
|
Amyotrophic lateral sclerosis type 4
|
(Orphanet:357043)
|
|
Angioma serpiginosum
|
(Orphanet:95429)
|
|
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
|
(Orphanet:99946)
|
|
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
|
(Orphanet:99947)
|
|
Autosomal dominant Charcot-Marie-Tooth disease type 2D
|
(Orphanet:99938)
|
|
Autosomal dominant Charcot-Marie-Tooth disease type 2G
|
(Orphanet:99941)
|
|
Autosomal dominant Charcot-Marie-Tooth disease type 2O
|
(Orphanet:284232)
|
|
Autosomal dominant Charcot-Marie-Tooth disease type 2P
|
(Orphanet:300319)
|
|
Autosomal dominant centronuclear myopathy
|
(Orphanet:169189)
|
|
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
|
(Orphanet:209341)
|
|
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
|
(Orphanet:352670)
|
|
Autosomal dominant limb-girdle muscular dystrophy type 1A
|
(Orphanet:266)
|
|
Autosomal dominant limb-girdle muscular dystrophy type 1B
|
(Orphanet:264)
|
|
Autosomal dominant limb-girdle muscular dystrophy type 1D
|
(Orphanet:34516)
|
|
Autosomal dominant limb-girdle muscular dystrophy type 1G
|
(Orphanet:55596)
|
|
Autosomal dominant limb-girdle muscular dystrophy type 1H
|
(Orphanet:238755)
|
|
Autosomal dominant nail dysplasia
|
(Orphanet:79153)
|
|
Autosomal dominant spastic paraplegia type 17
|
(Orphanet:100998)
|
|
Autosomal dominant spastic paraplegia type 19
|
(Orphanet:100999)
|
|
Autosomal dominant spastic paraplegia type 37
|
(Orphanet:171612)
|
|
Autosomal dominant striatal neurodegeneration
|
(Orphanet:228169)
|
|
Autosomal recessive cerebellar ataxia - psychomotor retardation
|
(Orphanet:284271)
|
|
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
|
(Orphanet:324262)
|
|
Autosomal recessive limb-girdle muscular dystrophy type 2B
|
(Orphanet:268)
|
|
Autosomal recessive limb-girdle muscular dystrophy type 2H
|
(Orphanet:1878)
|
|
Autosomal recessive limb-girdle muscular dystrophy type 2K
|
(Orphanet:86812)
|
|
Autosomal recessive optic atrophy, OPA6 type
|
(Orphanet:99012)
|
|
Autosomal recessive spastic ataxia - optic atrophy - dysarthria
|
(Orphanet:254343)
|
|
Autosomal recessive spastic paraplegia type 18
|
(Orphanet:209951)
|
|
Autosomal recessive spastic paraplegia type 26
|
(Orphanet:101006)
|
|
Autosomal recessive spastic paraplegia type 28
|
(Orphanet:101008)
|
|
Autosomal recessive spastic paraplegia type 30
|
(Orphanet:101010)
|
|
Autosomal recessive spastic paraplegia type 32
|
(Orphanet:171622)
|
|
Autosomal recessive spastic paraplegia type 46
|
(Orphanet:320391)
|
|
Bethlem myopathy
|
(Orphanet:610)
|
|
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME
|
(OMIM:614575)
|
|
Charcot-Marie-Tooth disease type 1A
|
(Orphanet:101081)
|
|
Charcot-Marie-Tooth disease type 1B
|
(Orphanet:101082)
|
|
Charcot-Marie-Tooth disease type 4F
|
(Orphanet:99952)
|
|
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
|
(Orphanet:284324)
|
|
Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
|
(Orphanet:280671)
|
|
Cystic leukoencephalopathy without megalencephaly
|
(Orphanet:85136)
|
|
Distal hereditary motor neuropathy type 5
|
(Orphanet:139536)
|
|
Distal hereditary motor neuropathy type 7
|
(Orphanet:139589)
|
|
Distal myopathy with posterior leg and anterior hand involvement
|
(Orphanet:63273)
|
|
Distal myopathy, Welander type
|
(Orphanet:603)
|
|
Distal spinal muscular atrophy type 3
|
(Orphanet:139547)
|
|
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
|
(OMIM:614302)
|
|
Emery-Dreifuss muscular dystrophy
|
(Orphanet:261)
|
|
Facioscapulohumeral dystrophy
|
(Orphanet:269)
|
|
Familial cortical myoclonus
|
(Orphanet:319189)
|
|
Familial exudative vitreoretinopathy
|
(Orphanet:891)
|
|
Fibronectin glomerulopathy
|
(Orphanet:84090)
|
|
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2
|
(OMIM:601894)
|
|
Giant axonal neuropathy
|
(Orphanet:643)
|
|
HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA,AND PALLIDAL DEGENERATION
|
(OMIM:607236)
|
|
Helicoid peripapillary chorioretinal degeneration
|
(Orphanet:86813)
|
|
Hereditary motor and sensory neuropathy type 5
|
(Orphanet:64751)
|
|
Hereditary motor and sensory neuropathy, Okinawa type
|
(Orphanet:90117)
|
|
Hereditary sensory and autonomic neuropathy type 2
|
(Orphanet:970)
|
|
Hyaline body myopathy
|
(Orphanet:53698)
|
|
Inclusion body myositis
|
(Orphanet:611)
|
|
Infantile-onset ascending hereditary spastic paralysis
|
(Orphanet:293168)
|
|
Intellectual deficit, X-linked - psychosis - macroorchidism
|
(Orphanet:3077)
|
|
Juvenile amyotrophic lateral sclerosis
|
(Orphanet:300605)
|
|
Juvenile primary lateral sclerosis
|
(Orphanet:247604)
|
|
Kennedy disease
|
(Orphanet:481)
|
|
Laing distal myopathy
|
(Orphanet:59135)
|
|
Leukoencephalopathy - metaphyseal chondrodysplasia
|
(Orphanet:83629)
|
|
Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation
|
(Orphanet:137898)
|
|
Lower motor neuron syndrome with late-adult onset
|
(Orphanet:276435)
|
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
|
(OMIM:613925)
|
|
MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE)
|
(OMIM:615418)
|
|
MYASTHENIC SYNDROME, CONGENITAL, 13
|
(OMIM:614750)
|
|
MYOPATHY, DISTAL, 3
|
(OMIM:610099)
|
|
MYOPATHY, MYOSIN STORAGE
|
(OMIM:608358)
|
|
Moderate multiminicore disease with hand involvement
|
(Orphanet:178145)
|
|
Muscle filaminopathy
|
(Orphanet:171445)
|
|
Myotilin-related myofibrillar myopathy without spheroid body
|
(Orphanet:98911)
|
|
NEMALINE MYOPATHY 6
|
(OMIM:609273)
|
|
NEMALINE MYOPATHY 7
|
(OMIM:610687)
|
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
|
(OMIM:608634)
|
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC
|
(OMIM:613376)
|
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID
|
(OMIM:615575)
|
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB
|
(OMIM:607641)
|
|
Neutral lipid storage myopathy
|
(Orphanet:98908)
|
|
Oculopharyngodistal myopathy
|
(Orphanet:98897)
|
|
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET
|
(OMIM:260300)
|
|
PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
|
(OMIM:605909)
|
|
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
(OMIM:606324)
|
|
PARKINSON DISEASE 8, AUTOSOMAL DOMINANT
|
(OMIM:607060)
|
|
PELIZAEUS-MERZBACHER DISEASE
|
(OMIM:312080)
|
|
PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
|
(OMIM:308990)
|
|
Parkinsonian-pyramidal syndrome
|
(Orphanet:171695)
|
|
Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
|
(Orphanet:171848)
|
|
Posterior column ataxia - retinitis pigmentosa
|
(Orphanet:88628)
|
|
Primary lateral sclerosis
|
(Orphanet:35689)
|
|
Progressive epilepsy-intellectual deficit, Finnish type
|
(Orphanet:1947)
|
|
Proximal spinal muscular atrophy type 4
|
(Orphanet:83420)
|
|
Pulmonary alveolar microlithiasis
|
(Orphanet:60025)
|
|
Roussy-Lévy syndrome
|
(Orphanet:3115)
|
|
SCAPULOPERONEAL MYOPATHY, MYH7-RELATED
|
(OMIM:181430)
|
|
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE
|
(OMIM:614066)
|
|
SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE
|
(OMIM:615625)
|
|
Spectrin-associated autosomal recessive cerebellar ataxia
|
(Orphanet:352403)
|
|
Spheroid body myopathy
|
(Orphanet:268129)
|
|
Spinocerebellar ataxia type 13
|
(Orphanet:98768)
|
|
Spinocerebellar ataxia type 14
|
(Orphanet:98763)
|
|
Spinocerebellar ataxia type 15/16
|
(Orphanet:98769)
|
|
Spinocerebellar ataxia type 19/22
|
(Orphanet:98772)
|
|
Spinocerebellar ataxia type 20
|
(Orphanet:101110)
|
|
Spinocerebellar ataxia type 21
|
(Orphanet:98773)
|
|
Spinocerebellar ataxia type 23
|
(Orphanet:101108)
|
|
Spinocerebellar ataxia type 26
|
(Orphanet:101112)
|
|
Spinocerebellar ataxia type 27
|
(Orphanet:98764)
|
|
Spinocerebellar ataxia type 28
|
(Orphanet:101109)
|
|
Spinocerebellar ataxia type 30
|
(Orphanet:211017)
|
|
Spinocerebellar ataxia type 35
|
(Orphanet:276193)
|
|
Spinocerebellar ataxia type 5
|
(Orphanet:98766)
|
|
Tibial muscular dystrophy
|
(Orphanet:609)
|
|
Tubular aggregate myopathy
|
(Orphanet:2593)
|
|
VERTIGO, BENIGN RECURRENT
|
(OMIM:193007)
|
|
X-linked Charcot-Marie-Tooth disease type 1
|
(Orphanet:101075)
|
|
X-linked Charcot-Marie-Tooth disease type 6
|
(Orphanet:352675)
|
|
X-linked distal spinal muscular atrophy
|
(Orphanet:139557)
|
|
X-linked myopathy with excessive autophagy
|
(Orphanet:25980)
|
|
X-linked parkinsonism-spasticity syndrome
|
(Orphanet:363654)
|
|
X-linked spastic paraplegia type 34
|
(Orphanet:171607)
|
|
Young adult-onset distal hereditary motor neuropathy
|
(Orphanet:314485)
|
|
[DEL]EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED
|
(OMIM:310300)
|