Disease The intractable diseases designated by MHLW, Japan

Diseases : 348 - Clinical trials : 39,610 / Drugs : 18,765 - ( DrugBank : 2,435 ) / Drug target genes : 703 - Drug target pathways : 305

ID	Disease name [Group]	Clinical trial Phase 1 / 2 / 3 / 4	Drug [ DrugBank ]	Target gene Target pathway	Domestic patients Med expenses recipients (FY2023)
1	Spinal and bulbar muscular atrophy [Neu] 💬 "Spinobulbar muscular atrophy", "SBMA", "Kennedy disease", "Kennedy-Alter-Sung syndrome" 1. Spinal and bulbar muscular atrophy × [Neu] Neuromuscular diseases	19 trials    | 1 / 13 / 1 / 1 💬 1. Spinal and bulbar muscular atrophy × Some trials have no Phase data.	16 drugs   [ 7 drugs ]	10 genes   18 pathways	1,700 patients Age distribution💬 1. Spinal and bulbar muscular atrophy × Age Num 0-9 - 10-19 - 20-29 1 30-39 30 40-49 165 50-59 430 60-69 542 70-74 251 75- 281
2	Amyotrophic lateral sclerosis [Neu] 💬 "ALS" 2. Amyotrophic lateral sclerosis × [Neu] Neuromuscular diseases	786 trials    | 153 / 339 / 262 / 10 💬 2. Amyotrophic lateral sclerosis × Some trials have no Phase data.	550 drugs   [ 182 drugs ]	170 genes   232 pathways	9,727 patients Age distribution💬 2. Amyotrophic lateral sclerosis × Age Num 0-9 - 10-19 1 20-29 17 30-39 93 40-49 497 50-59 1,330 60-69 2,346 70-74 1,927 75- 3,516
3	Spinal muscular atrophy [Neu] 💬 "SMA", "Myelopathic muscular atrophy", "Werdnig-Hoffman disease", "Dubowitz disease", "Kugelberg-Welander disease" 3. Spinal muscular atrophy × [Neu] Neuromuscular diseases	297 trials    | 44 / 127 / 131 / 17 💬 3. Spinal muscular atrophy × Some trials have no Phase data.	143 drugs   [ 32 drugs ]	54 genes   82 pathways	955 patients Age distribution💬 3. Spinal muscular atrophy × Age Num 0-9 7 10-19 53 20-29 155 30-39 94 40-49 115 50-59 136 60-69 167 70-74 94 75- 134
4	Primary lateral sclerosis [Neu] 💬 "PLS" 4. Primary lateral sclerosis × [Neu] Neuromuscular diseases	6 trials    | 1 / 0 / 0 / 0 💬 4. Primary lateral sclerosis × Some trials have no Phase data.	10 drugs   [ 6 drugs ]	13 genes   27 pathways	163 patients Age distribution💬 4. Primary lateral sclerosis × Age Num 0-9 - 10-19 - 20-29 - 30-39 - 40-49 6 50-59 21 60-69 38 70-74 34 75- 64
5	Progressive supranuclear palsy [Neu] 💬 "PSP" 5. Progressive supranuclear palsy × [Neu] Neuromuscular diseases	93 trials    | 17 / 48 / 9 / 2 💬 5. Progressive supranuclear palsy × Some trials have no Phase data.	97 drugs   [ 33 drugs ]	65 genes   111 pathways	13,355 patients Age distribution💬 5. Progressive supranuclear palsy × Age Num 0-9 - 10-19 1 20-29 - 30-39 - 40-49 4 50-59 132 60-69 1,231 70-74 2,217 75- 9,770
6	Parkinson disease [Neu] 💬 "Disease Parkinson's" 6. Parkinson disease × [Neu] Neuromuscular diseases	2,586 trials    | 347 / 712 / 597 / 231 💬 6. Parkinson disease × Some trials have no Phase data.	1,871 drugs   [ 354 drugs ]	188 genes   205 pathways	147,481 patients Age distribution💬 6. Parkinson disease × Age Num 0-9 1 10-19 5 20-29 23 30-39 136 40-49 1,017 50-59 5,809 60-69 20,126 70-74 25,634 75- 94,730
7	Corticobasal degeneration [Neu] 💬 "Corticobasal syndrome", "CBD" 7. Corticobasal degeneration × [Neu] Neuromuscular diseases	25 trials    | 1 / 2 / 0 / 0 💬 7. Corticobasal degeneration × Some trials have no Phase data.	39 drugs   [ 15 drugs ]	9 genes   41 pathways	4,469 patients Age distribution💬 7. Corticobasal degeneration × Age Num 0-9 - 10-19 - 20-29 - 30-39 1 40-49 14 50-59 118 60-69 619 70-74 878 75- 2,839
8	Huntington disease [Neu] 💬 "Huntington chorea" 8. Huntington disease × [Neu] Neuromuscular diseases	276 trials    | 69 / 155 / 45 / 4 💬 8. Huntington disease × Some trials have no Phase data.	185 drugs   [ 58 drugs ]	86 genes   160 pathways	889 patients Age distribution💬 8. Huntington disease × Age Num 0-9 - 10-19 1 20-29 10 30-39 35 40-49 121 50-59 220 60-69 213 70-74 115 75- 174
9	Neuroacanthocytosis [Neu] 💬 "Choreoacanthocytosis", "Chorea-acanthocytosis", "Levine-Critchley syndrome", "McLeod syndrome", "Huntington disease-like 2", "HDL2" 9. Neuroacanthocytosis × [Neu] Neuromuscular diseases	-	-	-	34 patients Age distribution💬 9. Neuroacanthocytosis × Age Num 0-9 - 10-19 - 20-29 1 30-39 6 40-49 10 50-59 8 60-69 5 70-74 3 75- 1
10	Charcot-Marie-Tooth disease [Neu] 💬 "CMT" 10. Charcot-Marie-Tooth disease × [Neu] Neuromuscular diseases	45 trials    | 7 / 15 / 23 / 0 💬 10. Charcot-Marie-Tooth disease × Some trials have no Phase data.	34 drugs   [ 10 drugs ]	12 genes   22 pathways	922 patients Age distribution💬 10. Charcot-Marie-Tooth disease × Age Num 0-9 2 10-19 9 20-29 46 30-39 46 40-49 112 50-59 180 60-69 209 70-74 113 75- 205
11	Myasthenia gravis [Neu] 💬 "MG" 11. Myasthenia gravis × [Neu] Neuromuscular diseases	439 trials    | 16 / 117 / 263 / 17 💬 11. Myasthenia gravis × Some trials have no Phase data.	223 drugs   [ 73 drugs ]	50 genes   135 pathways	27,371 patients Age distribution💬 11. Myasthenia gravis × Age Num 0-9 1 10-19 92 20-29 554 30-39 1,171 40-49 2,610 50-59 4,621 60-69 5,572 70-74 3,801 75- 8,949
12	Congenital myasthenic syndrome [Neu] 💬 "End-plate acetylcholine receptor deficiency", "Slow-channel congenital myasthenic syndrome", "Fast-channel congenital myasthenic syndrome", "Sodium channel myasthenia", "End-plate acetylcholine esterase deficiency", "Congenital myasthenic syndrome with episodic apnoea", "Dok-7 myasthenia", "DOK7 congenital myasthenic syndrome" 12. Congenital myasthenic syndrome × [Neu] Neuromuscular diseases	6 trials    | 2 / 0 / 0 / 0 💬 12. Congenital myasthenic syndrome × Some trials have no Phase data.	4 drugs   [ 3 drugs ]	5 genes   15 pathways	14 patients Age distribution💬 12. Congenital myasthenic syndrome × Age Num 0-9 3 10-19 - 20-29 2 30-39 6 40-49 2 50-59 1 60-69 - 70-74 - 75- -
13	Multiple sclerosis [Neu] 💬 "Neuromyelitis optica", "Neuromyelitis optica spectrum disorder", "NMOSD", "Balo concentric sclerosis", "Baló concentric sclerosis" 13. Multiple sclerosis × [Neu] Neuromuscular diseases	3,685 trials    | 240 / 740 / 1342 / 402 💬 13. Multiple sclerosis × Some trials have no Phase data.	1,932 drugs   [ 355 drugs ]	263 genes   237 pathways	24,105 patients Age distribution💬 13. Multiple sclerosis × Age Num 0-9 1 10-19 83 20-29 1,304 30-39 3,190 40-49 5,900 50-59 6,629 60-69 3,735 70-74 1,416 75- 1,847
14	Chronic inflammatory demyelinating polyneuropathy [Neu] 💬 "Chronic inflammatory demyelinating poly (radiculo) neuropathy", "CIDP", "Multifocal motor neuropathy" 14. Chronic inflammatory demyelinating polyneuropathy × [Neu] Neuromuscular diseases	223 trials    | 1 / 119 / 92 / 7 💬 14. Chronic inflammatory demyelinating polyneuropathy × Some trials have no Phase data.	119 drugs   [ 28 drugs ]	11 genes   22 pathways	5,464 patients Age distribution💬 14. Chronic inflammatory demyelinating polyneuropathy × Age Num 0-9 - 10-19 11 20-29 162 30-39 240 40-49 631 50-59 988 60-69 1,168 70-74 750 75- 1,514
15	Inclusion body myositis [Neu] 💬 15. Inclusion body myositis × [Neu] Neuromuscular diseases	46 trials    | 6 / 18 / 24 / 0 💬 15. Inclusion body myositis × Some trials have no Phase data.	41 drugs   [ 14 drugs ]	14 genes   130 pathways	895 patients Age distribution💬 15. Inclusion body myositis × Age Num 0-9 - 10-19 - 20-29 - 30-39 - 40-49 12 50-59 63 60-69 205 70-74 184 75- 431
16	Crow-Fukase syndrome [Neu] 💬 "Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome", "POEMS syndrome", "Takatsuki disease", "Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome", "PEP syndrome" 16. Crow-Fukase syndrome × [Neu] Neuromuscular diseases	16 trials    | 1 / 9 / 2 / 1 💬 16. Crow-Fukase syndrome × Some trials have no Phase data.	17 drugs   [ 8 drugs ]	5 genes   79 pathways	271 patients Age distribution💬 16. Crow-Fukase syndrome × Age Num 0-9 - 10-19 - 20-29 2 30-39 10 40-49 40 50-59 59 60-69 70 70-74 42 75- 48
17	Multiple system atrophy [Neu] 💬 "MSA", "MSA", "Olivopontocerebellar atrophy", "OPCA", "Striatonigral degeneration", "Shy-Drager syndrome" 17. Multiple system atrophy × [Neu] Neuromuscular diseases	142 trials    | 12 / 42 / 14 / 0 💬 17. Multiple system atrophy × Some trials have no Phase data.	142 drugs   [ 44 drugs ]	59 genes   110 pathways	10,528 patients Age distribution💬 17. Multiple system atrophy × Age Num 0-9 - 10-19 - 20-29 - 30-39 9 40-49 178 50-59 1,304 60-69 2,904 70-74 2,208 75- 3,925
18	Spinocerebellar degeneration [Neu] 💬 "SCD", ":Spinocerebellar ataxia", "SCA", "Machado-Joseph disease", "MJD", "Dentatorubural pallidoluysian atrophy", "Dentatorubropallidoluysial atrophy", "DRPLA", "Naito-Koyanagi disease", "Early-onset ataxia with ocular motor ataxia and hypoalbuminemia", "EAOH", "Neu:Ataxia with vitamin E deficiency", "AVED", "Aprataxin deficiency", "APTX deficiency", "Friedreich ataxia", "FRDA", "Senataxin deficiency", "SETX deficiency", "Autosomal recessive spastic ataxia of Charlevoix-Saguenay", "Spastic ataxia" 18. Spinocerebellar degeneration × [Neu] Neuromuscular diseases	83 trials    | 19 / 45 / 20 / 2 💬 18. Spinocerebellar degeneration × Some trials have no Phase data.	83 drugs   [ 31 drugs ]	30 genes   53 pathways	26,578 patients Age distribution💬 18. Spinocerebellar degeneration × Age Num 0-9 - 10-19 20 20-29 331 30-39 876 40-49 1,867 50-59 3,658 60-69 5,353 70-74 4,190 75- 10,283
22	Moyamoya disease [Neu] 💬 "Occlusive disease in circle of Willis" 22. Moyamoya disease × [Neu] Neuromuscular diseases	23 trials    | 4 / 2 / 1 / 4 💬 22. Moyamoya disease × Some trials have no Phase data.	29 drugs   [ 21 drugs ]	35 genes   50 pathways	13,689 patients Age distribution💬 22. Moyamoya disease × Age Num 0-9 11 10-19 209 20-29 880 30-39 1,547 40-49 3,030 50-59 3,970 60-69 2,161 70-74 867 75- 1,014
23	Prion disease [Neu] 💬 "Creutzfeldt-Jakob disease", "CJD", "Sporadic CJD", "sCJD", "Gerstmann-Straussler-Scheinker syndrome", "GSS", "Fatal familial insomnia", "FFI", "Kuru disease", "Iatrogenic CJD", "iCJD", "Variant CCJD", "vCJD" 23. Prion disease × [Neu] Neuromuscular diseases	5 trials    | 1 / 2 / 1 / 0 💬 23. Prion disease × Some trials have no Phase data.	6 drugs   [ 2 drugs ]	-	448 patients Age distribution💬 23. Prion disease × Age Num 0-9 - 10-19 - 20-29 1 30-39 2 40-49 12 50-59 42 60-69 108 70-74 78 75- 205
24	Subacute sclerosing panencephalitis [Neu] 💬 "SSPE" 24. Subacute sclerosing panencephalitis × [Neu] Neuromuscular diseases	-	-	-	53 patients Age distribution💬 24. Subacute sclerosing panencephalitis × Age Num 0-9 - 10-19 - 20-29 14 30-39 28 40-49 10 50-59 - 60-69 - 70-74 1 75- -
25	Progressive multifocal leukoencephalopathy [Neu] 💬 "PML", "Leukoencephalopathy, progressive multifocal" 25. Progressive multifocal leukoencephalopathy × [Neu] Neuromuscular diseases	28 trials    | 1 / 9 / 1 / 1 💬 25. Progressive multifocal leukoencephalopathy × Some trials have no Phase data.	31 drugs   [ 20 drugs ]	7 genes   35 pathways	78 patients Age distribution💬 25. Progressive multifocal leukoencephalopathy × Age Num 0-9 - 10-19 - 20-29 1 30-39 2 40-49 9 50-59 11 60-69 20 70-74 13 75- 22
26	HTLV-1-associated myelopathy [Neu] 💬 "Tropical spastic paraparesis", "HTLV-1", "HTLV-I", "HAM" 26. HTLV-1-associated myelopathy × [Neu] Neuromuscular diseases	32 trials    | 8 / 16 / 9 / 3 💬 26. HTLV-1-associated myelopathy × Some trials have no Phase data.	46 drugs   [ 27 drugs ]	35 genes   124 pathways	1,038 patients Age distribution💬 26. HTLV-1-associated myelopathy × Age Num 0-9 - 10-19 - 20-29 - 30-39 12 40-49 23 50-59 94 60-69 259 70-74 225 75- 425
27	Idiopathic basal ganglia calcification [Neu] 💬 "IBGC", "Familial IBGC", "FIBGC", "Primary familial brain calcification", "PFBC", "Fahr disease" 27. Idiopathic basal ganglia calcification × [Neu] Neuromuscular diseases	2 trials    | 0 / 2 / 0 / 0 💬 27. Idiopathic basal ganglia calcification × Some trials have no Phase data.	1 drug   [ 1 drug ]	-	141 patients Age distribution💬 27. Idiopathic basal ganglia calcification × Age Num 0-9 - 10-19 - 20-29 2 30-39 5 40-49 15 50-59 16 60-69 32 70-74 26 75- 45
29	Ullrich disease [Neu] 💬 "Ullrich congenital muscular dystrophy", "Collagen VI-related myopathy" 29. Ullrich disease × [Neu] Neuromuscular diseases	-	-	-	21 patients Age distribution💬 29. Ullrich disease × Age Num 0-9 - 10-19 - 20-29 11 30-39 7 40-49 2 50-59 1 60-69 - 70-74 - 75- -
30	Distal myopathy [Neu] 💬 "Distal muscular dystrophy", "Miyoshi myopathy", "Distal dysferlinopathy", "Distal myopathy with rimmed vacuoles", "DMRV/GNE myopathy", "Oculopharyngodistal myopathy" 30. Distal myopathy × [Neu] Neuromuscular diseases	13 trials    | 1 / 3 / 10 / 0 💬 30. Distal myopathy × Some trials have no Phase data.	11 drugs   [ 2 drugs ]	1 gene   1 pathway	343 patients Age distribution💬 30. Distal myopathy × Age Num 0-9 - 10-19 1 20-29 7 30-39 36 40-49 68 50-59 92 60-69 72 70-74 25 75- 42
31	Bethlem myopathy [Neu] 💬 "Beth Rem myopathy" 31. Bethlem myopathy × [Neu] Neuromuscular diseases	-	-	-	26 patients Age distribution💬 31. Bethlem myopathy × Age Num 0-9 - 10-19 - 20-29 5 30-39 2 40-49 4 50-59 6 60-69 5 70-74 2 75- 2
32	Autophagic vacuolar myopathy [Neu] 💬 "Danon disease", "X-linked myopathy with excessive autophagy", "XMEA" 32. Autophagic vacuolar myopathy × [Neu] Neuromuscular diseases	2 trials    | 1 / 1 / 0 / 0 💬 32. Autophagic vacuolar myopathy × Some trials have no Phase data.	1 drug   [ 1 drug ]	-	9 patients Age distribution💬 32. Autophagic vacuolar myopathy × Age Num 0-9 - 10-19 - 20-29 1 30-39 2 40-49 1 50-59 2 60-69 2 70-74 - 75- 1
33	Schwartz-Jampel syndrome [Neu] 💬 "Schwarz-Yanperu syndrome", "SJS", "Myotonic chondrodystrophy", "Cartilage dystrophic myotonia", "Stuve-Wiedemann syndrome", "Stüve-Wiedemann syndrome" 33. Schwartz-Jampel syndrome × [Neu] Neuromuscular diseases	-	-	-	1 patient Age distribution💬 33. Schwartz-Jampel syndrome × Age Num 0-9 - 10-19 - 20-29 - 30-39 - 40-49 - 50-59 - 60-69 1 70-74 - 75- -
111	Congenital myopathy [Neu] 💬 "Nemaline myopathy", "Central core disease", "Minicore myopathy", "Multi-minicore myopathy", "Myotubular myopathy", "X-linked myotubular myopathy", "XLMTM", "Centronuclear myopathy", "CNM", "Congenital fiber-type disproportion myopathy" 111. Congenital myopathy × [Neu] Neuromuscular diseases	10 trials    | 6 / 8 / 2 / 1 💬 111. Congenital myopathy × Some trials have no Phase data.	13 drugs   [ 2 drugs ]	1 gene   11 pathways	390 patients Age distribution💬 111. Congenital myopathy × Age Num 0-9 2 10-19 5 20-29 82 30-39 47 40-49 73 50-59 66 60-69 65 70-74 24 75- 26
112	Marinesco-Sjogren syndrome [Neu] 💬 "Hereditary cerebellar ataxia-childhood cataracts" 112. Marinesco-Sjogren syndrome × [Neu] Neuromuscular diseases	-	-	-	5 patients Age distribution💬 112. Marinesco-Sjogren syndrome × Age Num 0-9 - 10-19 1 20-29 - 30-39 1 40-49 1 50-59 1 60-69 1 70-74 - 75- -
113	Muscular dystrophy [Neu] 💬 "Dystrophinopathies", "Duchenne muscular dystrophy", "DMD", "Becker muscular dystrophy", "BMD", "Limb-girdle muscular dystrophy", "LGMD", "Congenital muscular dystrophy", "CMD", "Fukuyama-type congenital muscular dystrophy", "FCMD", "Walker-Warburg syndrome", "Muscle-eye-brain disease", "α-dystroglycanopathy", "Integrin α7 deficient CMD", "CIntegrin α7 deficient ongenital muscular dystrophy", "Merosin-deficient congenital muscular dystrophy", "Ullrich congenital muscular dystrophy", "Laminopathy", "Rigid spine syndrome", "Dynamin 2 deficient congenital muscular dystrophy", "Telesonin-deficient congenital muscular dystrophy", "Congenital muscular dystrophy with mitochondrial structural abnormalities", "Facioscapulohumeral muscular dystrophy", "FSMD", "Myotonic dystrophy", "Dystrophia myotonica", "DM", "Emery-Dreifuss muscular dystrophy", "EDMD", "Oculopharyngeal muscular dystrophy", "OPMD", "Myotilinopathy", "Caveolinopathy", "Limb gridle muscular dystrophy 1C", "LGMD1C", "Desminopathy", "Sarcoglycanopathy" 113. Muscular dystrophy × [Neu] Neuromuscular diseases	766 trials    | 171 / 308 / 283 / 11 💬 113. Muscular dystrophy × Some trials have no Phase data.	477 drugs   [ 119 drugs ]	80 genes   178 pathways	5,701 patients Age distribution💬 113. Muscular dystrophy × Age Num 0-9 12 10-19 41 20-29 630 30-39 740 40-49 1,273 50-59 1,563 60-69 865 70-74 273 75- 304
114	Non-dystrophic myotonia syndrome [Neu] 💬 "Non-dystrophic Myotonia", "Myotonia congenita", "Thomsen disease", "Autosomal-dominant myotonia congenita", "Becker disease", "Autosomal-recessive myotonia congenita", "Paramyotonia congenita", "Sodium channel myotonia" 114. Non-dystrophic myotonia syndrome × [Neu] Neuromuscular diseases	13 trials    | 0 / 3 / 4 / 0 💬 114. Non-dystrophic myotonia syndrome × Some trials have no Phase data.	14 drugs   [ 4 drugs ]	18 genes   9 pathways	33 patients Age distribution💬 114. Non-dystrophic myotonia syndrome × Age Num 0-9 1 10-19 4 20-29 5 30-39 3 40-49 5 50-59 7 60-69 3 70-74 4 75- 1
115	Hereditary periodic paralysis [Neu] 💬 "Hereditary hypokalemic periodic paralysis", "Andersen-Tawil syndrome", "Hereditary hyperkalemic periodic paralysis" 115. Hereditary periodic paralysis × [Neu] Neuromuscular diseases	2 trials    | 1 / 1 / 0 / 0 💬 115. Hereditary periodic paralysis × Some trials have no Phase data.	3 drugs   [ 3 drugs ]	18 genes   9 pathways	72 patients Age distribution💬 115. Hereditary periodic paralysis × Age Num 0-9 - 10-19 7 20-29 19 30-39 14 40-49 12 50-59 11 60-69 6 70-74 - 75- 3
116	Atopic myelitis [Neu] 💬 "Idiopathic eosinophilic myelitis" 116. Atopic myelitis × [Neu] Neuromuscular diseases	-	-	-	65 patients Age distribution💬 116. Atopic myelitis × Age Num 0-9 - 10-19 1 20-29 2 30-39 10 40-49 11 50-59 23 60-69 14 70-74 1 75- 3
117	Syringomyelia [Neu] 💬 117. Syringomyelia × [Neu] Neuromuscular diseases	4 trials    | 0 / 4 / 0 / 0 💬 117. Syringomyelia × Some trials have no Phase data.	6 drugs   [ 2 drugs ]	1 gene   66 pathways	636 patients Age distribution💬 117. Syringomyelia × Age Num 0-9 3 10-19 20 20-29 40 30-39 61 40-49 94 50-59 123 60-69 123 70-74 66 75- 106
118	Myelomeningocele [Neu] 💬 "Myeloschisis", "Myelocele", "Myelocystocele", "Syringomyelocele" 118. Myelomeningocele × [Neu] Neuromuscular diseases	6 trials    | 1 / 1 / 0 / 1 💬 118. Myelomeningocele × Some trials have no Phase data.	9 drugs   [ 4 drugs ]	2 genes   12 pathways	161 patients Age distribution💬 118. Myelomeningocele × Age Num 0-9 5 10-19 11 20-29 105 30-39 18 40-49 12 50-59 7 60-69 2 70-74 - 75- 1
119	Isaacs syndrome [Neu] 💬 "Morvan syndrome", "Morvan fibrillary chorea", "Anti-VGKC antibody-associated limbic encephalitis" 119. Isaacs syndrome × [Neu] Neuromuscular diseases	-	-	-	116 patients Age distribution💬 119. Isaacs syndrome × Age Num 0-9 - 10-19 1 20-29 6 30-39 10 40-49 18 50-59 24 60-69 22 70-74 16 75- 19
120	Hereditary dystonia [Neu] 💬 "X-linked dystonia parkinsonism", "Lubag", "Segawa syndrome", "SS", "Dopa-responsive dystonia", "DRD", "Paroxysmal nonkinesigenic dyskinesia 1", "PNKD1", "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity", "Paroxysmal choreoathetosis and episodic ataxia and spasticity", "CSE", "Episodic kinesigenic dyskinesia 1", "EKD1", "Myoclonus-dystonia syndrome", "MDS", "Rapid-onset dystonia-parkinsonism", "RDP", "Alternating hemiplegia of childhood", "AHC", "Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss", "CAPOS", "Paroxysmal execise-induced dyskinesia", "PED", "Episodic kinesigenic dyskinesia 2", "EKD2", "Paroxysmal nonkinesigenic dyskinesia 2", "PNKD2", "MEPAN syndrome" 120. Hereditary dystonia × [Neu] Neuromuscular diseases	2 trials    | 0 / 0 / 0 / 0 💬 120. Hereditary dystonia × Some trials have no Phase data.	2 drugs   [ - ]	-	147 patients Age distribution💬 120. Hereditary dystonia × Age Num 0-9 - 10-19 8 20-29 38 30-39 33 40-49 27 50-59 20 60-69 16 70-74 5 75- -
121	Neurodegeneration with brain iron accumulation [Neu] 💬 "NBIA", "Neuroferritinopathy", "FTL", "NBIA3", "Pantothenate kinase-associated neurodegeneration", "PKAN", "NBIA1", "Infantile neuroaxonal dystrophy", "INAD", "NBIA2", "Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration", "PLAN", "NBIA/DYT/PARK-PLA2G6", "Mitochondrial membrane protein-associated neurodegeneration", "MPAN", "NBIA4", "Static encephalopathy of childhood with neurodegeneration in adulthood", "Beta-propeller protein-associated neurodegeneration", "BPAN", "NBIA5", "Coenzyme A synthase (COASY) protein-associated neurodegeneration", "CoPAN", "NBIA6", "Aceruloplaminemia", "Hereditary ceruloplasmin deficiency", "Fatty Acid Hydroxylase-associated neurodegeneration", "FAHN", "Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35", "Kufor-Rakeb syndrome", "DDB1 and CLUL4 associated factor 17", "DCAF17", "Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome" 121. Neurodegeneration with brain iron accumulation × [Neu] Neuromuscular diseases	30 trials    | 1 / 3 / 18 / 1 💬 121. Neurodegeneration with brain iron accumulation × Some trials have no Phase data.	26 drugs   [ 5 drugs ]	4 genes   106 pathways	3 patients Age distribution💬 121. Neurodegeneration with brain iron accumulation × Age Num 0-9 - 10-19 - 20-29 - 30-39 - 40-49 - 50-59 1 60-69 1 70-74 1 75- -
122	Superficial siderosis [Neu] 💬 "SS", "Classical superficial siderosis", "Classical SS", "Brain table hemosiderosis" 122. Superficial siderosis × [Neu] Neuromuscular diseases	4 trials    | 0 / 0 / 0 / 0 💬 122. Superficial siderosis × Some trials have no Phase data.	8 drugs   [ 2 drugs ]	-	241 patients Age distribution💬 122. Superficial siderosis × Age Num 0-9 - 10-19 1 20-29 - 30-39 1 40-49 6 50-59 23 60-69 51 70-74 51 75- 108
123	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy [Neu] 💬 "CARASIL", "Cerebral autosomal recessive arteriopathy with baldness and degenerative spondylosis", "Autosomal recessive leukoencephalopathy with baldness and degenerative spondylosis", "Cerebral autosomal recessive arteriopathy", "Autosomal recessive leukoencephalopathy", "HTRA1-related cerebral small vessel disease", "HRSVD" 123. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy × [Neu] Neuromuscular diseases	-	-	-	9 patients Age distribution💬 123. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy × Age Num 0-9 - 10-19 - 20-29 - 30-39 1 40-49 2 50-59 3 60-69 3 70-74 - 75- -
124	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [Neu] 💬 "CADASIL", "Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy", "Autosomal dominant cerebral artery disease" 124. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy × [Neu] Neuromuscular diseases	17 trials    | 1 / 11 / 0 / 0 💬 124. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy × Some trials have no Phase data.	19 drugs   [ 9 drugs ]	6 genes   24 pathways	259 patients Age distribution💬 124. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy × Age Num 0-9 - 10-19 - 20-29 1 30-39 3 40-49 30 50-59 84 60-69 86 70-74 33 75- 22
125	Hereditary diffuse leukoencephalopathy with spheroid [Neu] 💬 "HDLS", "Hereditary diffuse leukoencephalopathy" 125. Hereditary diffuse leukoencephalopathy with spheroid × [Neu] Neuromuscular diseases	1 trial    | 0 / 0 / 0 / 0 💬 125. Hereditary diffuse leukoencephalopathy with spheroid × Some trials have no Phase data.	4 drugs   [ 1 drug ]	-	72 patients Age distribution💬 125. Hereditary diffuse leukoencephalopathy with spheroid × Age Num 0-9 - 10-19 - 20-29 - 30-39 10 40-49 23 50-59 30 60-69 5 70-74 2 75- 2
126	Perry disease [Neu] 💬 "Perry syndrome" 126. Perry disease × [Neu] Neuromuscular diseases	-	-	-	4 patients Age distribution💬 126. Perry disease × Age Num 0-9 - 10-19 - 20-29 - 30-39 - 40-49 - 50-59 3 60-69 1 70-74 - 75- -
127	Frontotemporal lobar degeneration [Neu] 💬 "Frontotemporal dementia, behavioral abnormal type", "Frontotemporal dementia", "Semantic dementia" 127. Frontotemporal lobar degeneration × [Neu] Neuromuscular diseases	123 trials    | 24 / 47 / 30 / 6 💬 127. Frontotemporal lobar degeneration × Some trials have no Phase data.	107 drugs   [ 33 drugs ]	49 genes   89 pathways	1,449 patients Age distribution💬 127. Frontotemporal lobar degeneration × Age Num 0-9 - 10-19 - 20-29 1 30-39 7 40-49 16 50-59 149 60-69 598 70-74 373 75- 305
128	Bickerstaff brainstem encephalitis [Neu] 💬 128. Bickerstaff brainstem encephalitis × [Neu] Neuromuscular diseases	-	-	-	110 patients Age distribution💬 128. Bickerstaff brainstem encephalitis × Age Num 0-9 1 10-19 1 20-29 9 30-39 13 40-49 14 50-59 27 60-69 23 70-74 9 75- 13
129	Acute encephalopathy with biphasic seizures and late reduced diffusion [Neu] 💬 "AESD", "Epilepticus type biphasic acute encphalopathy", "Epilepticus type acute encphalopathy" 129. Acute encephalopathy with biphasic seizures and late reduced diffusion × [Neu] Neuromuscular diseases	1 trial    | 0 / 1 / 0 / 0 💬 129. Acute encephalopathy with biphasic seizures and late reduced diffusion × Some trials have no Phase data.	1 drug   [ 1 drug ]	-	46 patients Age distribution💬 129. Acute encephalopathy with biphasic seizures and late reduced diffusion × Age Num 0-9 13 10-19 18 20-29 15 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
130	Congenital insensitivity to pain with anhydrosis [Neu] 💬 "CIPA", "Hereditary sensory and autonomic neuropathy type IV", "HSAN4", "Hereditary sensory and autonomic neuropathy type V", "HSAN5" 130. Congenital insensitivity to pain with anhydrosis × [Neu] Neuromuscular diseases	-	-	-	45 patients Age distribution💬 130. Congenital insensitivity to pain with anhydrosis × Age Num 0-9 1 10-19 5 20-29 20 30-39 11 40-49 4 50-59 1 60-69 1 70-74 - 75- 2
131	Alexander disease [Neu] 💬 "ALXDRD", "AxD" 131. Alexander disease × [Neu] Neuromuscular diseases	4 trials    | 3 / 3 / 4 / 0 💬 131. Alexander disease × Some trials have no Phase data.	4 drugs   [ 1 drug ]	-	52 patients Age distribution💬 131. Alexander disease × Age Num 0-9 - 10-19 1 20-29 7 30-39 5 40-49 7 50-59 8 60-69 12 70-74 4 75- 8
132	Congenital supranuclear bulbar palsy [Neu] 💬 "Congenital suprabulbar paresis", "Worcester drought syndrome", "Worster-Drought syndrome" 132. Congenital supranuclear bulbar palsy × [Neu] Neuromuscular diseases	-	-	-	7 patients Age distribution💬 132. Congenital supranuclear bulbar palsy × Age Num 0-9 5 10-19 2 20-29 - 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
133	Moebius syndrome [Neu] 💬 "Mobius syndrome", "Möbius syndrome" 133. Moebius syndrome × [Neu] Neuromuscular diseases	-	-	-	17 patients Age distribution💬 133. Moebius syndrome × Age Num 0-9 6 10-19 2 20-29 4 30-39 3 40-49 2 50-59 - 60-69 - 70-74 - 75- -
135	Aicardi syndrome [Neu] 💬 135. Aicardi syndrome × [Neu] Neuromuscular diseases	2 trials    | 0 / 2 / 1 / 0 💬 135. Aicardi syndrome × Some trials have no Phase data.	12 drugs   [ 4 drugs ]	2 genes   37 pathways	8 patients Age distribution💬 135. Aicardi syndrome × Age Num 0-9 2 10-19 2 20-29 2 30-39 2 40-49 - 50-59 - 60-69 - 70-74 - 75- -
136	Hemimegalencephaly [Neu] 💬 "Unilateral megalencephaly" 136. Hemimegalencephaly × [Neu] Neuromuscular diseases	-	-	-	24 patients Age distribution💬 136. Hemimegalencephaly × Age Num 0-9 8 10-19 3 20-29 11 30-39 1 40-49 - 50-59 - 60-69 - 70-74 1 75- -
137	Focal cortical dysplasia [Neu] 💬 "FCD" 137. Focal cortical dysplasia × [Neu] Neuromuscular diseases	14 trials    | 3 / 8 / 1 / 0 💬 137. Focal cortical dysplasia × Some trials have no Phase data.	10 drugs   [ 3 drugs ]	1 gene   49 pathways	82 patients Age distribution💬 137. Focal cortical dysplasia × Age Num 0-9 8 10-19 28 20-29 29 30-39 9 40-49 2 50-59 5 60-69 1 70-74 - 75- -
138	Nerve cell migration disorder [Neu] 💬 "Lissencephaly", "Neuronal migration defect", "Lissencephaly", "Ectopic gray matter", "Polymicrogyria", "Cortical dysplasia with cobblestone appearance", "Schizencephaly", "orencephaly", "Miller-Dieker syndrome" 138. Nerve cell migration disorder × [Neu] Neuromuscular diseases	2 trials    | 0 / 2 / 0 / 0 💬 138. Nerve cell migration disorder × Some trials have no Phase data.	3 drugs   [ 2 drugs ]	1 gene   103 pathways	81 patients Age distribution💬 138. Nerve cell migration disorder × Age Num 0-9 4 10-19 5 20-29 45 30-39 14 40-49 10 50-59 3 60-69 - 70-74 - 75- -
139	Congenital cerebral hypomyelination [Neu] 💬 "Congenital cerebral white matter aplasia", "Congenital hypomyelinating leukodystrophy", "Pelizaeus-Merzbacher disease", "Pelizaeus-Merzbacher-like disease 1", "Pelizaeus-Merzbacher-like disease type 1", "Hypomyelination with atrophy of the basal ganglia and cerebellum", "18q-syndrome", "Chromosome 18q deletion syndrome", "Allan-Herndon-Dudley syndrome", "Mitochondrial Hsp60 chaperonopathy", "Salla disease", "Free sialic acid storage disease", "Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum", "Hypomyelination and congenital cataract", "Ataxia, delayed dentition, and hypomyelination", "Peripheral demyelinating neuropathy", "Central dysmyelinating leukodystrophy", "Waardenburg syndrome", "Hirschsprung disease" 139. Congenital cerebral hypomyelination × [Neu] Neuromuscular diseases	13 trials    | 2 / 7 / 1 / 0 💬 139. Congenital cerebral hypomyelination × Some trials have no Phase data.	8 drugs   [ 4 drugs ]	2 genes   3 pathways	47 patients Age distribution💬 139. Congenital cerebral hypomyelination × Age Num 0-9 2 10-19 3 20-29 23 30-39 12 40-49 5 50-59 2 60-69 - 70-74 - 75- -
140	Dorabe syndrome [Neu] 💬 "Dravet syndrome" 140. Dorabe syndrome × [Neu] Neuromuscular diseases	139 trials    | 9 / 25 / 90 / 6 💬 140. Dorabe syndrome × Some trials have no Phase data.	49 drugs   [ 17 drugs ]	53 genes   67 pathways	97 patients Age distribution💬 140. Dorabe syndrome × Age Num 0-9 5 10-19 4 20-29 73 30-39 13 40-49 2 50-59 - 60-69 - 70-74 - 75- -
141	Mesial temporal lobe epilepsy with hippocampal sclerosis [Neu] 💬 "Medial temporal lobe epilepsy with hippocampal sclerosis", "Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis", "Medial temporal lobe epilepsy" 141. Mesial temporal lobe epilepsy with hippocampal sclerosis × [Neu] Neuromuscular diseases	-	-	-	84 patients Age distribution💬 141. Mesial temporal lobe epilepsy with hippocampal sclerosis × Age Num 0-9 1 10-19 6 20-29 22 30-39 18 40-49 11 50-59 18 60-69 6 70-74 - 75- 2
142	Myoclonic absence epilepsy [Neu] 💬 "Epilepsy with myoclonic absence" 142. Myoclonic absence epilepsy × [Neu] Neuromuscular diseases	-	-	-	4 patients Age distribution💬 142. Myoclonic absence epilepsy × Age Num 0-9 - 10-19 - 20-29 3 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
143	Epilepsy with myoclonic-atonic seizures [Neu] 💬 "Epilepsy with myoclonic cataplexy" 143. Epilepsy with myoclonic-atonic seizures × [Neu] Neuromuscular diseases	1 trial    | 0 / 0 / 1 / 0 💬 143. Epilepsy with myoclonic-atonic seizures × Some trials have no Phase data.	1 drug   [ - ]	-	18 patients Age distribution💬 143. Epilepsy with myoclonic-atonic seizures × Age Num 0-9 6 10-19 6 20-29 3 30-39 1 40-49 1 50-59 1 60-69 - 70-74 - 75- -
144	Lennox-Gastaut syndrome [Neu] 💬 144. Lennox-Gastaut syndrome × [Neu] Neuromuscular diseases	128 trials    | 2 / 3 / 61 / 1 💬 144. Lennox-Gastaut syndrome × Some trials have no Phase data.	53 drugs   [ 13 drugs ]	50 genes   62 pathways	390 patients Age distribution💬 144. Lennox-Gastaut syndrome × Age Num 0-9 - 10-19 10 20-29 308 30-39 38 40-49 17 50-59 14 60-69 3 70-74 - 75- -
145	West syndrome [Neu] 💬 "Infantile spasm", "Infantile spasms", "Infantile spasms syndrome", "Infantile epileptic spasms", "Infantile epileptic spasms syndrome" 145. West syndrome × [Neu] Neuromuscular diseases	49 trials    | 1 / 17 / 18 / 6 💬 145. West syndrome × Some trials have no Phase data.	43 drugs   [ 16 drugs ]	29 genes   28 pathways	351 patients Age distribution💬 145. West syndrome × Age Num 0-9 12 10-19 19 20-29 303 30-39 15 40-49 2 50-59 - 60-69 - 70-74 - 75- -
146	Ohtahara syndrome [Neu] 💬 "Early infantile epileptic encephalopathy with suppression burst" 146. Ohtahara syndrome × [Neu] Neuromuscular diseases	1 trial    | 0 / 0 / 0 / 0 💬 146. Ohtahara syndrome × Some trials have no Phase data.	1 drug   [ - ]	-	13 patients Age distribution💬 146. Ohtahara syndrome × Age Num 0-9 6 10-19 3 20-29 4 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
147	Early myoclonic encephalopathy [Neu] 💬 147. Early myoclonic encephalopathy × [Neu] Neuromuscular diseases	-	-	-	10 patients Age distribution💬 147. Early myoclonic encephalopathy × Age Num 0-9 7 10-19 1 20-29 1 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
148	Epilepsy of infancy with migrating focal seizures [Neu] 💬 "Infant epilepsy with migratory focus seizure", "Migrating partial seizures in infancy", "Infant epilepsy" 148. Epilepsy of infancy with migrating focal seizures × [Neu] Neuromuscular diseases	2 trials    | 1 / 0 / 0 / 0 💬 148. Epilepsy of infancy with migrating focal seizures × Some trials have no Phase data.	2 drugs   [ - ]	-	15 patients Age distribution💬 148. Epilepsy of infancy with migrating focal seizures × Age Num 0-9 9 10-19 6 20-29 - 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
149	Hemiconvulsion hemiplegia epilepsy syndrome [Neu] 💬 "One side convulsions", "Hemiplegia", "Epilepsy syndrome" 149. Hemiconvulsion hemiplegia epilepsy syndrome × [Neu] Neuromuscular diseases	34 trials    | 5 / 7 / 9 / 5 💬 149. Hemiconvulsion hemiplegia epilepsy syndrome × Some trials have no Phase data.	37 drugs   [ 16 drugs ]	17 genes   30 pathways	31 patients Age distribution💬 149. Hemiconvulsion hemiplegia epilepsy syndrome × Age Num 0-9 3 10-19 1 20-29 4 30-39 3 40-49 4 50-59 8 60-69 2 70-74 4 75- 2
150	Ring chromosome 20 epilepsy syndrome [Neu] 💬 "Ring chromosome 20 syndrome" 150. Ring chromosome 20 epilepsy syndrome × [Neu] Neuromuscular diseases	-	-	-	10 patients Age distribution💬 150. Ring chromosome 20 epilepsy syndrome × Age Num 0-9 - 10-19 3 20-29 5 30-39 - 40-49 - 50-59 1 60-69 - 70-74 1 75- -
151	Rasmussen encephalitis [Neu] 💬 151. Rasmussen encephalitis × [Neu] Neuromuscular diseases	2 trials    | 0 / 1 / 1 / 0 💬 151. Rasmussen encephalitis × Some trials have no Phase data.	3 drugs   [ 2 drugs ]	6 genes   85 pathways	50 patients Age distribution💬 151. Rasmussen encephalitis × Age Num 0-9 - 10-19 - 20-29 17 30-39 6 40-49 7 50-59 8 60-69 7 70-74 2 75- 3
152	PCDH19 related syndrome [Neu] 💬 "PCDH19 Epilepsy", "Epilepsy and mental retardation limited to females", "PCDH19 female pediatric epilepsy", "PCDH19 related epilepsy", "Protocadherin 19 (PCDH19)-related epilepsy" 152. PCDH19 related syndrome × [Neu] Neuromuscular diseases	11 trials    | 0 / 4 / 5 / 0 💬 152. PCDH19 related syndrome × Some trials have no Phase data.	4 drugs   [ 1 drug ]	16 genes   8 pathways	10 patients Age distribution💬 152. PCDH19 related syndrome × Age Num 0-9 3 10-19 4 20-29 3 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
153	Acute encephalitis with refractory, repetitive partial seizures [Neu] 💬 repetitive partial seizures", "AERRPS", "Refractory frequent partial seizures intussusception acute encephalitis", "Febrile infection related epilepsy syndrome", "FIRES", "New onset refractory status epilepsy syndrome", "NORSE syndrome" 153. Acute encephalitis with refractory, repetitive partial seizures × [Neu] Neuromuscular diseases	1 trial    | 0 / 0 / 0 / 0 💬 153. Acute encephalitis with refractory, repetitive partial seizures × Some trials have no Phase data.	1 drug   [ 1 drug ]	1 gene   11 pathways	71 patients Age distribution💬 153. Acute encephalitis with refractory, repetitive partial seizures × Age Num 0-9 - 10-19 2 20-29 41 30-39 9 40-49 12 50-59 4 60-69 1 70-74 1 75- 1
154	Epilepsy with continuous spikes and waves during slow sleep [Neu] 💬 "Epileptic encephalopathy with continuous spike-and-wave during sleep" 154. Epilepsy with continuous spikes and waves during slow sleep × [Neu] Neuromuscular diseases	8 trials    | 0 / 8 / 0 / 0 💬 154. Epilepsy with continuous spikes and waves during slow sleep × Some trials have no Phase data.	2 drugs   [ - ]	-	15 patients Age distribution💬 154. Epilepsy with continuous spikes and waves during slow sleep × Age Num 0-9 2 10-19 10 20-29 3 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
155	Acquired aphasia with convulsive disorder [Neu] 💬 "Landau-Kleffner syndrome" 155. Acquired aphasia with convulsive disorder × [Neu] Neuromuscular diseases	1 trial    | 0 / 1 / 1 / 0 💬 155. Acquired aphasia with convulsive disorder × Some trials have no Phase data.	2 drugs   [ 2 drugs ]	29 genes   14 pathways	5 patients Age distribution💬 155. Acquired aphasia with convulsive disorder × Age Num 0-9 1 10-19 3 20-29 1 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
156	Rett syndrome [Neu] 💬 156. Rett syndrome × [Neu] Neuromuscular diseases	55 trials    | 8 / 30 / 18 / 0 💬 156. Rett syndrome × Some trials have no Phase data.	51 drugs   [ 22 drugs ]	77 genes   116 pathways	128 patients Age distribution💬 156. Rett syndrome × Age Num 0-9 1 10-19 7 20-29 91 30-39 20 40-49 8 50-59 1 60-69 - 70-74 - 75- -
157	Sturge-Weber syndrome [Neu] 💬 "Síndrome de Sturge-Weber" 157. Sturge-Weber syndrome × [Neu] Neuromuscular diseases	8 trials    | 3 / 5 / 1 / 1 💬 157. Sturge-Weber syndrome × Some trials have no Phase data.	7 drugs   [ 4 drugs ]	5 genes   63 pathways	72 patients Age distribution💬 157. Sturge-Weber syndrome × Age Num 0-9 1 10-19 5 20-29 21 30-39 14 40-49 9 50-59 14 60-69 5 70-74 3 75- -
158	Tuberous sclerosis [Neu] 💬 "Tuberous sclerosis complex", "TSC" 158. Tuberous sclerosis × [Neu] Neuromuscular diseases	129 trials    | 5 / 35 / 56 / 10 💬 158. Tuberous sclerosis × Some trials have no Phase data.	56 drugs   [ 20 drugs ]	35 genes   116 pathways	1,092 patients Age distribution💬 158. Tuberous sclerosis × Age Num 0-9 1 10-19 26 20-29 387 30-39 237 40-49 224 50-59 143 60-69 54 70-74 15 75- 5
177	Joubert syndrome related disorder [Neu] 💬 "Joubert syndrome and related disorder", "Joubert syndrome", "JSRD", "Arima syndrome", "Senior-Loken syndrome", "Senior-Løken syndrome", "COACH syndrome", "Orofaciodigital syndrome" 177. Joubert syndrome related disorder × [Neu] Neuromuscular diseases	1 trial    | 0 / 0 / 0 / 0 💬 177. Joubert syndrome related disorder × Some trials have no Phase data.	1 drug   [ - ]	-	21 patients Age distribution💬 177. Joubert syndrome related disorder × Age Num 0-9 3 10-19 4 20-29 14 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
201	Angelman syndrome [Neu] 💬 201. Angelman syndrome × [Neu] Neuromuscular diseases	33 trials    | 13 / 12 / 8 / 0 💬 201. Angelman syndrome × Some trials have no Phase data.	32 drugs   [ 13 drugs ]	22 genes   21 pathways	29 patients Age distribution💬 201. Angelman syndrome × Age Num 0-9 - 10-19 4 20-29 14 30-39 10 40-49 1 50-59 - 60-69 - 70-74 - 75- -
263	Cerebrotendinous xanthomatosis [Neu] 💬 "CTX", "27-hydroxylase deficiency", "CYP27 deficiency" 263. Cerebrotendinous xanthomatosis × [Neu] Neuromuscular diseases	8 trials    | 1 / 1 / 3 / 0 💬 263. Cerebrotendinous xanthomatosis × Some trials have no Phase data.	9 drugs   [ 2 drugs ]	2 genes   3 pathways	54 patients Age distribution💬 263. Cerebrotendinous xanthomatosis × Age Num 0-9 - 10-19 - 20-29 - 30-39 3 40-49 14 50-59 19 60-69 13 70-74 2 75- 3
307	Canavan disease [Neu] 💬 307. Canavan disease × [Neu] Neuromuscular diseases	6 trials    | 3 / 3 / 0 / 0 💬 307. Canavan disease × Some trials have no Phase data.	8 drugs   [ 4 drugs ]	2 genes   2 pathways	-
308	Progressive leukoencephalopathy [Neu] 💬 "Megalencephalic leukoencephalopathy with subcortical cyst", "Leukoencephalopathy with vanishing white matter", "Vanishing white matter disease", "Leukoencephalopathy, progressive, with ovarian failure" 308. Progressive leukoencephalopathy × [Neu] Neuromuscular diseases	2 trials    | 1 / 1 / 0 / 0 💬 308. Progressive leukoencephalopathy × Some trials have no Phase data.	3 drugs   [ 1 drug ]	5 genes   1 pathway	22 patients Age distribution💬 308. Progressive leukoencephalopathy × Age Num 0-9 - 10-19 - 20-29 1 30-39 3 40-49 5 50-59 2 60-69 9 70-74 1 75- 1
309	Progressive myoclonus epilepsy [Neu] 💬 "Unverricht-Lundborg disease", "Lafora disease", "Benign adult familial myoclonus epilepsy", "BAFME" 309. Progressive myoclonus epilepsy × [Neu] Neuromuscular diseases	14 trials    | 1 / 2 / 7 / 0 💬 309. Progressive myoclonus epilepsy × Some trials have no Phase data.	16 drugs   [ 5 drugs ]	7 genes   16 pathways	48 patients Age distribution💬 309. Progressive myoclonus epilepsy × Age Num 0-9 - 10-19 - 20-29 6 30-39 8 40-49 9 50-59 10 60-69 4 70-74 6 75- 5
320	Inherited glycosylphosphatidylinositol deficiency [Neu] 💬 "Inherited GPI deficiency", "IGD", "Congenital glycosylphosphatidylinositol deficiency", "Congenital GPI deficiency" 320. Inherited glycosylphosphatidylinositol deficiency × [Neu] Neuromuscular diseases	3 trials    | 0 / 0 / 0 / 0 💬 320. Inherited glycosylphosphatidylinositol deficiency × Some trials have no Phase data.	2 drugs   [ 2 drugs ]	-	2 patients Age distribution💬 320. Inherited glycosylphosphatidylinositol deficiency × Age Num 0-9 - 10-19 - 20-29 2 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
334	Cerebral creatine deficiency syndrome [Neu] 💬 "CCDS" 334. Cerebral creatine deficiency syndrome × [Neu] Neuromuscular diseases	-	-	-	-
342	LMNB1-related cerebral leukoencephalopathy [Neu] 💬 "Autosomal dominant adult-onset demyelinating leukodystrophy", "LMNB1-related autosomal dominant leukodystrophy", "ADLD" 342. LMNB1-related cerebral leukoencephalopathy × [Neu] Neuromuscular diseases	-	-	-	-
343	PURA-related neurodevelopmental disorders [Neu] 💬 "PURA-NDDs" 343. PURA-related neurodevelopmental disorders × [Neu] Neuromuscular diseases	-	-	-	-
348	Lowe syndrome [Neu] 💬 "Oculocerebrorenal syndrome of Lowe", "OCRL" 348. Lowe syndrome × [Neu] Neuromuscular diseases	-	-	-	-