Disease phenotype | OMIM | Gene symbol (chromosome) protein | |
1 | Absence of pain, Congenital (14.120) | ||
2 | Acetazolamide-responsive hereditary paroxymal cerebellar ataxia (7.9, 13.6, 13.54, 7.10, 13.48) | ||
3 | Acyl-CoA dehydrogenase (very long chain) deficiency (9.28) | ||
4 | Adult onset distal myopathy ( | ||
5 | Agenesis of the corpus callosum with peripheral neuropathy (14.126) | ||
6 | Aldehyde dehydrogenase, family 3, subfamily A, member 2 (15.83) | ||
7 | Amyotrophic lateral sclerosis (12.56) | ? - (18q21) | |
8 | Amyotrophic lateral sclerosis (12.61, 12.44) | ||
9 | Amyotrophic lateral sclerosis (12.60) | ? - (20p13) | |
10 | Amyotrophic lateral sclerosis (12.59) | ||
11 | Amyotrophic lateral sclerosis (12.89) | ||
12 | Amyotrophic lateral sclerosis (14.102, 12.80) | ||
13 | Amyotrophic lateral sclerosis 1 (12.53, 12.54) | ||
14 | amyotrophic lateral sclerosis 10 (12.63, 4.29) | ||
15 | Amyotrophic lateral sclerosis 11 (14.33, 12.64) | ||
16 | Amyotrophic lateral sclerosis 12 (12.65) | ||
17 | Amyotrophic lateral sclerosis 13 (13.2, 12.66) | ||
18 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (5.37, 4.22, 12.67, 1.56, 14.66) | ||
19 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (12.68) | ||
20 | Amyotrophic lateral sclerosis 16, juvenile (12.6, 12.69) | ||
21 | Amyotrophic lateral sclerosis 17 (12.70) | ||
22 | Amyotrophic lateral sclerosis 18 (12.71) | ||
23 | Amyotrophic lateral sclerosis 19 (12.72) | ||
24 | Amyotrophic lateral sclerosis 20 (4.7, 12.73, 3.35) | ||
25 | Amyotrophic lateral sclerosis 22 (12.75) | ||
26 | Amyotrophic lateral sclerosis 25, susceptibility to (15.6, 14.73, 12.78) | ||
27 | Amyotrophic lateral sclerosis 28 (5.23, 12.81) | ||
28 | Amyotrophic lateral sclerosis 5 (15.27, 12.58, 14.93) | ||
29 | amyotrophic lateral sclerosis 9 (12.62) | ||
30 | Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.45, 12.86, 16.24) | ||
31 | Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.85, 12.117) | ||
32 | Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.87, 4.23, 4.15) | ||
33 | Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.88) | ||
34 | Amyotrophic lateral sclerosis, due to SOD1 deficiency (12.53, 12.54) | ||
35 | Amyotrophic lateral sclerosis, juvenile (12.55, 15.84) | ||
36 | Amyotrophic lateral sclerosis, susceptibility to, 24 (12.77) | ||
37 | Amytrophic lateral sclerosis 23 (12.76, 12.113) | ||
38 | Andermann syndrome (14.126) | ||
39 | Andersen-Tawill syndrome cardiodysrythmic periodic paralysis (10.152, 10.148) | ||
40 | Andersen-Tawill syndrome cardiodysrythmic periodic paralysis (10.155, 10.166, 10.142) | ||
41 | Arrhythmogenic right ventricular cardiomyopathy 2 (10.116, 10.128) | ||
42 | Arrhythmogenic right ventricular cardiomyopathy 3 (10.117) | ? - (14q12-q22) | |
43 | Arrhythmogenic right ventricular cardiomyopathy 4 (10.118) | ? - (2q32.1-q32.3) | |
44 | Arrhythmogenic right ventricular cardiomyopathy 6 (10.120, 3.43) | ||
45 | Arrhythmogenic right ventricular dysplasia 2 (10.116, 10.128) | ||
46 | Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy (5.1, 10.46, 5.15, 10.135, 11.44) | ||
47 | Arrhythmogenic right ventricular dysplasia-3 (10.117) | ? - (14q12-q22) | |
48 | Arrhythmogenic right ventricular dysplasia, 1 (10.115) | ||
49 | Arrhythmogenic right ventricular dysplasia, 10 (10.123, 10.65) | ||
50 | Arrhythmogenic right ventricular dysplasia, 11 (10.124) | ||
51 | Arrhythmogenic right ventricular dysplasia, 8 (10.121) | ||
52 | Arrhythmogenic right ventricular dysplasia, 9 (10.122) | ||
53 | Arrhythmogenic right ventricular dysplasia, familial, 1 (10.115) | ||
54 | arrhythmogenic right ventricular dysplasia, familial, 12 (10.134, 10.125) | ||
55 | Arrhythmogenic right ventricular dysplasia, familial, 13 (10.126) | ||
56 | Arrhythmogenic right ventricular dysplasia, familial, 14 (10.127) | ||
57 | Arrhythmogenic right ventricular dysplasia, familial, 4 (10.118) | ? - (2q32.1-q32.3) | |
58 | arrhythmogenic right ventricular dysplasia, familial, 5 (10.119, 1.8) | ||
59 | Arrhythmogenic right ventricular dysplasia, familial, 6 (10.120, 3.43) | ||
60 | arrhythmogenic right ventricular dysplasia, familial, 7 ( | ? - (10q22) | |
61 | Arthrogryposis and BICD2-related neuromuscular disease (12.42, 12.43, 17.24) | ||
62 | Arthrogryposis multiplex congenita 7, X-linked (17.26) | ||
63 | Arthrogryposis multiplex congenita with nesprin-1 defect (1.5, 13.68, 17.23, 10.92) | ||
64 | Arthrogryposis related to ASCC1 (12.17, 17.25) | ||
65 | Arthrogryposis, distal type 11 (17.21) | ||
66 | Arthrogryposis, distal type 12 (17.22) | ||
67 | Arthrogryposis, distal, type 1B (17.10, 12.93, 3.55) | ||
68 | Arthrogryposis, distal, type 3 (17.16, 17.17) | ||
69 | Arthrogryposis, distal, type 5 (17.16, 17.17) | ||
70 | Arthrogryposis, distal, type 10 (17.20) | ? - (2q31.3-q32.1 ) | |
71 | Arthrogryposis, distal, type 1A (3.6, 3.36, 17.9, 17.15) | ||
72 | Arthrogryposis, distal, type 2A (17.11, 17.14) | ||
73 | arthrogryposis, distal, type 2B (3.6, 3.36, 17.9, 17.15) | ||
74 | Arthrogryposis, distal, type 2B (17.12) | ||
75 | Arthrogryposis, distal, type 2B (17.13, 3.16) | ||
76 | Arthrogryposis, distal, type 2B (17.11, 17.14) | ||
77 | Arthrogryposis, distal, type 5D (17.18) | ||
78 | Asymmetric septal hypertrophy (10.55, 10.10, 10.107) | ||
79 | ataxia telangiectasia (13.99) | ||
80 | ataxia telangiectasia-like disorder (13.100) | ||
81 | Ataxia telangiectasia-like disorder 2 (13.101) | ||
82 | Ataxia with isolated vitamin E deficiency (13.59) | TTPA (8q13.1-q13.3) Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency) ![]() ![]() ![]() ![]() | |
83 | Ataxia-pancytopenia syndrome (13.56, 13.45) | ||
84 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (13.61) | ||
85 | Ataxia, Friedreich-like, with selective vitamin E deficiency (13.59) | TTPA (8q13.1-q13.3) Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency) ![]() ![]() ![]() ![]() | |
86 | Ataxia, posterior column, with retinitis pigmentosa (PCARP) (14.119) | ||
87 | ataxia, spastic, 1, autosomal dominant (15.91, 11.33) | ||
88 | ataxia, spastic, 2, autosomal recessive (15.92) | ||
89 | ATFB18 (10.175) | ||
90 | atrial fibillation, familial, 8 (10.165) | ? - (16q22) | |
91 | Atrial fibrillation , 12 (10.52, 10.169, 5.48) | ||
92 | Atrial fibrillation, 1 (10.158) | ? - (10q22-q24) | |
93 | Atrial fibrillation, 10 (10.138, 10.43, 10.177, 10.187, 10.167) | ||
94 | Atrial fibrillation, 13 (10.181, 10.170) | ||
95 | Atrial fibrillation, 14 (10.171) | ||
96 | Atrial fibrillation, 15 (10.172) | ||
97 | Atrial fibrillation, 16 (10.183, 10.173) | ||
98 | Atrial fibrillation, 17 (10.145, 10.174) | ||
99 | Atrial fibrillation, 2 (10.159) | ? - (10q22-q24) | |
100 | Atrial fibrillation, 3 (10.156, 10.136, 10.160, 10.154) | ||
101 | Atrial fibrillation, 4 (10.141, 10.161) | ||
102 | Atrial fibrillation, 9 (10.155, 10.166, 10.142) | ||
103 | atrial fibrillation, familial (10.164) | ||
104 | atrial fibrillation, familial, 1 (10.168, 10.176) | ||
105 | atrial fibrillation, familial, 5 (10.162) | ? - (4q25) | |
106 | atrial fibrillation, familial, 6 (10.163) | ||
107 | Autophagic vacuolar myopathy (5.20) | ||
108 | Autosomal dominant myopathy with proximal muscle weakness and early respiratory (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101) | ||
109 | Autosomal recessive CMT axonal type 2S (12.5, 14.91) | ||
110 | Autosomal recessive CMT2 related to DNAJB2 (12.9, 14.84) | ||
111 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay (15.96, 13.102, 14.97) | ||
112 | autosomal recessive spastic ataxia with leukoencephalopathy (15.93) | ||
113 | Autosomal recessive spinocerebellar ataxia, 2 (13.62) | ||
114 | Autosomal recessive spinocerebellar ataxia, 9 with ubiquinone deficiency (13.69, 17.49) | ||
115 | Axonal neuropathy intermediate recessive C (12.8, 14.88) | ||
116 | Axonal neuropathy recessive (14.87) | ||
117 | Barth syndrome (10.90, 10.103) | ||
118 | Becker muscular distrophy (1.1, 10.91) | ||
119 | Bethlem myopathy (2.8, 2.4) | ||
120 | Bethlem myopathy (2.2, 2.6) | ||
121 | Bethlem myopathy (2.5, 2.4, 2.7, 2.12, 2.3) | ||
122 | Bethlem myopathy 2 (2.9, 2.10, 2.11) | ||
123 | Brody disease (6.9) | ||
124 | Brown-Vialetto-Van Laere syndrome 1 (12.105) | ||
125 | Brown-Vialetto-Van Laere syndrome 2 (12.106) | ||
126 | Brugada syndrome (10.186) | ||
127 | Brugada syndrome 1 (10.138, 10.43, 10.177, 10.187, 10.167) | ||
128 | brugada syndrome 2 (10.178) | ||
129 | brugada syndrome 3 (10.143, 10.179) | ||
130 | brugada syndrome 4 (10.180) | ||
131 | Brugada syndrome 5 (10.181, 10.170) | ||
132 | Brugada syndrome 6 (7.11, 10.182) | ||
133 | Brugada syndrome 7 (10.183, 10.173) | ||
134 | Brugada syndrome 8 (10.188, 10.184) | ||
135 | Brugada syndrome 9 (13.17, 10.185) | ||
136 | Cap myopathy, TPM2-related, included (3.6, 3.36, 17.9, 17.15) | ||
137 | Cardiac and skeletal aggregate myopathy (5.14) | ||
138 | Cardiac and skeletal aggregate myopathy (5.14) | ||
139 | Cardiac arrhythmia syndrome, with or without skeletal muscle weakness (10.132) | ||
140 | Cardiac conduction defect, progressive (10.138, 10.43, 10.177, 10.187, 10.167) | ||
141 | cardiac valvular dysplasia, x-linked (10.114) | ||
142 | Cardimyopathy, dilated, 1A (10.4, 3.40, 10.76, 10.113) | ||
143 | Cardiomopathy, hypertrophic, mid-ventricular chamber type (10.7) | ||
144 | cardiomyopathy, dilated 1C (5.5, 10.41, 4.19, 10.26, 10.106) | ||
145 | Cardiomyopathy, dilated, 1A (1.3, 1.4, 10.39, 2.17, 14.81) | ||
146 | Cardiomyopathy, dilated, 1CC (10.66, 10.21) | ||
147 | Cardiomyopathy, dilated, 1D (10.2, 10.42, 10.98, 10.109) | ||
148 | Cardiomyopathy, dilated, 1DD (10.67) | ||
149 | Cardiomyopathy, dilated, 1E (10.138, 10.43, 10.177, 10.187, 10.167) | ||
150 | Cardiomyopathy, dilated, 1EE (10.1, 10.68, 10.13, 10.189) | ||
151 | Cardiomyopathy, dilated, 1FF (10.6, 10.96, 10.81, 10.69) | ||
152 | Cardiomyopathy, dilated, 1G (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101) | ||
153 | Cardiomyopathy, dilated, 1GG (10.70) | ||
154 | Cardiomyopathy, dilated, 1H (10.45) | ? - (2q14-q22) | |
155 | Cardiomyopathy, dilated, 1J (10.47) | ||
156 | Cardiomyopathy, dilated, 1K (10.48) | ? - (6q12-q16) | |
157 | Cardiomyopathy, dilated, 1M (10.50, 10.11) | ||
158 | Cardiomyopathy, dilated, 1O (10.52, 10.169, 5.48) | ||
159 | Cardiomyopathy, dilated, 1P (10.53, 10.19) | ||
160 | Cardiomyopathy, dilated, 1Q (10.54) | ? - (7q22.3-q31.1) | |
161 | Cardiomyopathy, dilated, 1R (10.55, 10.10, 10.107) | ||
162 | Cardiomyopathy, dilated, 1S (4.6, 3.31, 10.56, 3.33, 10.108, 3.32) | ||
163 | Cardiomyopathy, dilated, 1T (10.57) | ||
164 | Cardiomyopathy, dilated, 1U (10.58) | ||
165 | Cardiomyopathy, dilated, 1W (10.59) | ||
166 | Cardiomyopathy, dilated, 1W (10.14, 10.60) | ||
167 | Cardiomyopathy, dilated, 1X (1.46, 2.36, 2.22, 10.61) | ||
168 | Cardiomyopathy, dilated, 1Y (10.3, 10.62, 10.112) | ||
169 | Cardiomyopathy, dilated, 1Z (10.12, 10.63) | ||
170 | Cardiomyopathy, dilated, 2B (10.82) | ||
171 | Cardiomyopathy, Dilated, 3B (1.1, 10.91) | ||
172 | Cardiomyopathy, dilated, X-linked (1.1, 10.91) | ||
173 | Cardiomyopathy, familial dilated, 1 (10.40) | ? - (9q13) | |
174 | cardiomyopathy, familial hypertrophic (1.20, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16) | ||
175 | cardiomyopathy, familial hypertrophic (10.15) | ||
176 | Cardiomyopathy, familial hypertrophic (10.6, 10.96, 10.81, 10.69) | ||
177 | Cardiomyopathy, familial hypertrophic 1 (10.1, 10.68, 10.13, 10.189) | ||
178 | Cardiomyopathy, familial hypertrophic 20 (10.66, 10.21) | ||
179 | Cardiomyopathy, familial hypertrophic 27 (10.29) | ||
180 | cardiomyopathy, familial hypertrophic, 1, included (4.6, 3.31, 10.56, 3.33, 10.108, 3.32) | ||
181 | Cardiomyopathy, familial hypertrophic, 10 (10.9) | ||
182 | Cardiomyopathy, familial hypertrophic, 11 (10.55, 10.10, 10.107) | ||
183 | Cardiomyopathy, familial hypertrophic, 12 (10.50, 10.11) | ||
184 | Cardiomyopathy, familial hypertrophic, 15 (10.14, 10.60) | ||
185 | Cardiomyopathy, familial hypertrophic, 16 - CMH16 (10.17) | ||
186 | Cardiomyopathy, familial hypertrophic, 17 (10.18, 10.85) | ||
187 | Cardiomyopathy, familial hypertrophic, 18 (10.53, 10.19) | ||
188 | Cardiomyopathy, familial hypertrophic, 2 (10.2, 10.42, 10.98, 10.109) | ||
189 | Cardiomyopathy, familial hypertrophic, 26 (5.6, 4.8, 10.28, 10.100) | ||
190 | Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies ( | ||
191 | Cardiomyopathy, familial hypertrophic, 3 (10.3, 10.62, 10.112) | ||
192 | Cardiomyopathy, familial hypertrophic, 4 (10.4, 3.40, 10.76, 10.113) | ||
193 | Cardiomyopathy, familial hypertrophic, 9 (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101) | ||
194 | Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome (10.5, 9.9) | ||
195 | Cardiomyopathy, familial restrictive (10.6, 10.96, 10.81, 10.69) | ||
196 | Cardiomyopathy, hypertrophic, 10 (10.9) | ||
197 | Cardiomyopathy, X-linked dilated (10.90, 10.103) | ||
198 | Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) (3.47) | ||
199 | Carey-Fineman-Ziter syndrome 2 ( | ||
200 | Carnitine deficiency, systemic primary (9.23) | ||
201 | Carnitine-acylcarnitine translocase deficiency (9.24) | ||
202 | Central core disease (8.1, 3.26, 3.27, 3.23, 5.40, 3.25, 2.51, 17.32, 3.64) | ||
203 | Centronuclear myopathy 2 (3.19) | ||
204 | Centronuclear myopathy 4 (3.20) | ||
205 | Centronuclear myopathy 5 (3.21) | ||
206 | Centronuclear myopathy 6 with fiber-type disproportion (3.22) | ||
207 | Centronuclear myopathy related to TTN (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101) | ||
208 | centronuclear myopathy, recessive (8.1, 3.26, 3.27, 3.23, 5.40, 3.25, 2.51, 17.32, 3.64) | ||
209 | Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) (13.105) | ||
210 | Cerebellar ataxia with neuropathy, hearing loss and intellectual disability (14.40, 17.44, 13.108) | ||
211 | Cerebellar ataxia, congenital, nonprogressive, autosomal dominant (13.26) | ? - (3p26) | |
212 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (14.125) | ||
213 | Cerebellar ataxia, paroxymal, acetazolamide-responsive (7.9, 13.6, 13.54, 7.10, 13.48) | ||
214 | Cerebellar ataxia, pure (7.9, 13.6, 13.54, 7.10, 13.48) | ||
215 | Chanarin-Dorfman syndrome (9.30) | ||
216 | Charcot-Marie Tooth disease (14.35) | ||
217 | Charcot-Marie Tooth disease related to CNTNAP1 (12.96, 14.36) | ||
218 | Charcot-Marie Tooth disease, demyelinating type 1G (14.8) | ||
219 | Charcot-Marie Tooth disease, intermediate (14.21) | ||
220 | Charcot-Marie-Tooth disease with deafness and mental retardation (14.40, 17.44, 13.108) | ||
221 | Charcot-Marie-Tooth disease, axonal (14.95) | ||
222 | Charcot-Marie-Tooth disease, axonal (12.112, 14.99) | ||
223 | Charcot-Marie-Tooth disease, axonal (15.36, 14.100) | ||
224 | Charcot-Marie-Tooth disease, axonal (14.101) | ||
225 | Charcot-Marie-Tooth disease, axonal, related to BAG3 (5.7, 10.71, 14.75) | ||
226 | Charcot-Marie-Tooth disease, axonal, related to CRYAB (5.2, 10.72, 14.78) | ||
227 | Charcot-Marie-Tooth disease, axonal, related to DHX9 ( | ||
228 | Charcot-Marie-Tooth disease, axonal, related to JAG1 (14.76) | ||
229 | Charcot-Marie-Tooth disease, axonal, related to NARS1 (14.136, 14.79) | ||
230 | Charcot-Marie-Tooth disease, axonal, related to NOTCH2NLC (14.134, 5.25, 14.77) | ||
231 | Charcot-Marie-Tooth disease, axonal, related to SCO2 (10.37, 14.96) | ||
232 | Charcot-Marie-Tooth disease, axonal, type 20 (14.60, 12.41) | ||
233 | Charcot-Marie-Tooth disease, axonal, type 2A2B (14.48, 14.80, 14.72) | ||
234 | Charcot-Marie-Tooth disease, axonal, type 2B1 (1.3, 1.4, 10.39, 2.17, 14.81) | ||
235 | Charcot-Marie-Tooth disease, axonal, type 2CC (12.82, 14.68) | ||
236 | Charcot-Marie-Tooth disease, axonal, type 2D (14.51, 12.27) | ||
237 | Charcot-Marie-Tooth disease, axonal, type 2DD (14.69) | ||
238 | Charcot-Marie-Tooth disease, axonal, type 2EE (14.83) | ||
239 | Charcot-Marie-Tooth disease, axonal, type 2FF (14.70) | ||
240 | Charcot-Marie-Tooth disease, axonal, type 2N (12.37, 14.59) | ||
241 | Charcot-Marie-Tooth disease, axonal; related to SACS (15.96, 13.102, 14.97) | ||
242 | Charcot-Marie-Tooth disease, congenital, vertical talus (14.12) | ||
243 | Charcot-Marie-Tooth disease, dominant intermediate A (14.14, 12.47) | ||
244 | Charcot-Marie-Tooth disease, dominant intermediate B (3.18, 2.15, 4.20, 14.15, 12.94) | ||
245 | Charcot-Marie-Tooth disease, dominant intermediate D (14.2, 14.44, 14.55, 14.56, 14.29, 14.17) | ||
246 | Charcot-Marie-Tooth disease, dominant intermediate G (14.7, 14.52, 14.20) | ||
247 | Charcot-Marie-Tooth disease, intermediate, related to SARS1 ( | ||
248 | Charcot-Marie-Tooth disease, mixed axonal and demyelinating type (14.22, 14.57, 14.86) | ||
249 | Charcot-Marie-Tooth disease, recessive intermediate, A (14.22, 14.57, 14.86) | ||
250 | Charcot-Marie-Tooth disease, type 1, related to ATP1A1 (14.69) | ||
251 | Charcot-Marie-Tooth disease, type 1A (14.1, 14.43, 14.5, 14.6) | ||
252 | Charcot-Marie-Tooth disease, type 1B (14.2, 14.44, 14.55, 14.56, 14.29, 14.17) | ||
253 | Charcot-Marie-Tooth disease, type 1D (14.4, 14.28, 14.45) | ||
254 | Charcot-Marie-Tooth disease, type 1E (14.1, 14.43, 14.5, 14.6) | ||
255 | Charcot-Marie-Tooth disease, type 1F (14.7, 14.52, 14.20) | ||
256 | Charcot-Marie-Tooth disease, type 2A1 (14.47) | ||
257 | Charcot-Marie-Tooth disease, type 2B2 (14.82, 14.94) | ||
258 | Charcot-Marie-Tooth disease, type 2E (14.7, 14.52, 14.20) | ||
259 | Charcot-Marie-Tooth disease, type 2I (14.2, 14.44, 14.55, 14.56, 14.29, 14.17) | ||
260 | Charcot-Marie-Tooth disease, type 2J (14.2, 14.44, 14.55, 14.56, 14.29, 14.17) | ||
261 | Charcot-Marie-Tooth disease, type 2K (14.22, 14.57, 14.86) | ||
262 | Charcot-Marie-Tooth disease, type 4A (14.22, 14.57, 14.86) | ||
263 | Charcot-Marie-Tooth disease, type 4B1 (14.23) | ||
264 | charcot-marie-tooth disease, type 4b2 (14.24) | ||
265 | Charcot-Marie-Tooth disease, type 4D (14.27) | ||
266 | Charcot-Marie-Tooth disease, type 4F (14.30, 14.46) | ||
267 | charcot-marie-tooth disease, type 4j (14.33, 12.64) | ||
268 | Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) (14.40, 17.44, 13.108) | ||
269 | Charcot-Marie-Tooth disease, X-linked recessive related to DRP2 ( | ||
270 | charcot-marie-tooth disease, x-linked recessive, 2 (14.38) | ? - (Xp22.2) | |
271 | charcot-marie-tooth disease, x-linked recessive, 3 (14.39) | ||
272 | charcot-marie-tooth disease, x-linked recessive, 5 (14.41) | ||
273 | Charcot-Marie-Tooth neuropathy (14.11) | ||
274 | Charcot-Marie-Tooth neuropathy (14.10) | ||
275 | Charcot-Marie-Tooth neuropathy Type 2B (14.49) | ||
276 | Charcot-Marie-Tooth neuropathy Type 2F (14.53, 12.25) | ||
277 | Charcot-Marie-Tooth neuropathy Type 2H (14.54) | ? - (8q21.3) | |
278 | Charcot-Marie-Tooth neuropathy Type 2L (14.58, 12.24, 4.27, 4.28) | ||
279 | Charcot-Marie-Tooth neuropathy Type 2P (14.61) | ||
280 | Charcot-Marie-Tooth neuropathy Type 2Q (14.62) | ||
281 | Charcot-Marie-Tooth neuropathy Type 2R (14.90) | ||
282 | Charcot-Marie-Tooth neuropathy Type 2T (14.92, 13.39) | ||
283 | Charcot-Marie-Tooth neuropathy Type 2U (14.63, 15.62) | ||
284 | Charcot-Marie-Tooth neuropathy Type 2V (14.64) | ||
285 | Charcot-Marie-Tooth neuropathy Type 2W (14.65) | ||
286 | Charcot-Marie-Tooth neuropathy Type 2X (15.27, 12.58, 14.93) | ||
287 | Charcot-Marie-Tooth neuropathy Type 2Y (5.37, 4.22, 12.67, 1.56, 14.66) | ||
288 | Charcot-Marie-Tooth neuropathy Type 2Z (14.67) | ||
289 | Charcot-Marie-Tooth neuropathy Type 4B3 (14.25) | ||
290 | Charcot-Marie-Tooth neuropathy Type 4E (14.4, 14.28, 14.45) | ||
291 | Charcot-Marie-Tooth neuropathy Type 4F (14.26) | ||
292 | Charcot-Marie-Tooth neuropathy Type 4G (14.31) | ||
293 | Charcot-Marie-Tooth neuropathy Type 4H (14.32) | ||
294 | Charcot-Marie-Tooth neuropathy Type 4K (14.34) | ||
295 | Charcot-Marie-Tooth neuropathy Type F (14.19) | ||
296 | Charcot-Marie-Tooth neuropathy with glomerulopathy (14.18) | ||
297 | Charcot-Marie-Tooth neuropathy X-linked 6 (14.42) | ||
298 | charcot-marie-tooth neuropathy, dominant intermediate A ( | ? - (10q24.1-q25.1) | |
299 | Charcot-Marie-Tooth neuropathy, dominant intermediate C (14.16) | ||
300 | Charcot-Marie-Tooth neuropathy, with fibulin defect (14.9) | ||
301 | Charcot-Marie-Tooth neuropathy, X-linked (14.37, 14.45) | ||
302 | Charlevoix disease (14.126) | ||
303 | Childhood-onset myopathy with hyperCKaemia (5.49) | ||
304 | CMT recessive intermediate D (14.89) | ||
305 | CMT2 related to KIF5A (15.6, 14.73, 12.78) | ||
306 | Coenzyme Q10 deficiency (13.110) | ||
307 | Coenzyme Q10 deficiency 1 (17.48) | ||
308 | Coenzyme Q10 deficiency 5 (17.50) | ||
309 | Coenzyme Q10 deficiency 6 (17.51) | ||
310 | Coenzyme Q10 deficiency 7 (17.52, 15.99) | ||
311 | Coenzyme Q10 deficiency 8 (17.53, 12.13) | ||
312 | COL12A1-related congenital muscular dystrophy (2.9, 2.10, 2.11) | ||
313 | Combined oxidative phosphorylation deficiency (17.46) | ||
314 | Combined oxidative phosphorylation deficiency 43 (16.25) | ||
315 | Combined oxidative phosphorylation deficiency 44 (17.45) | ||
316 | Combined oxidative phosphorylation deficiency 50 (17.47) | ||
317 | Combined Oxidative phosphorylation Deficiency 6 (14.40, 17.44, 13.108) | ||
318 | Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge (12.103, 14.132, 12.14) | ||
319 | Congenital amyotrophy (3.63) | ||
320 | congenital cataracts, facial dysmorphism, and neuropathy (14.131) | ||
321 | Congenital disorder of glycosylation type 1 (9.14) | ||
322 | Congenital muscle dystrophy with mitochondrial structural abnormalities (2.44) | ||
323 | Congenital muscular dystrophy (2.45) | ? - (1q42) | |
324 | Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se (9.16) | ||
325 | Congenital muscular dystrophy due to LMNA defect (L-CMD) (1.3, 1.4, 10.39, 2.17, 14.81) | ||
326 | Congenital muscular dystrophy related to TRAPPC2L (2.52) | ||
327 | Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype (1.35, 2.42) | ||
328 | Congenital muscular dystrophy with hypoglycosylation of dystroglycan (9.13) | ||
329 | Congenital muscular dystrophy with hypoglycosylation of dystroglycan ( | ||
330 | Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 (2.30, 1.51) | ||
331 | Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 (2.28) | ||
332 | Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 (1.50, 2.27) | ||
333 | Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB li (2.29) | ||
334 | Congenital muscular dystrophy with integrin defect (2.14) | ||
335 | Congenital muscular dystrophy with merosin deficiency (2.45) | ? - (1q42) | |
336 | Congenital muscular dystrophy with rigid spine related to ACTA1 (3.2, 3.38, 3.1, 3.37, 2.46) | ||
337 | Congenital musuclar dystrophy with telethonin defect (10.51, 2.16, 10.27) | ||
338 | Congenital myasthenic syndrome (11.25) | ||
339 | Congenital myasthenic syndrome (1.9, 11.41) | ||
340 | Congenital myasthenic syndrome (11.42) | ||
341 | Congenital Myasthenic syndrome related to GMPPB (1.52, 2.39, 2.32, 11.37) | ||
342 | Congenital myasthenic syndrome related to MuSK (11.17, 17.28) | ||
343 | Congenital myasthenic syndrome related to RPH3A (11.40) | ||
344 | Congenital myasthenic syndrome type 19 (11.27) | ||
345 | Congenital myasthenic syndrome with choline acetyltransferase deficiency (11.13) | ||
346 | Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency (11.12) | ||
347 | Congenital myasthenic syndrome with episodic apnea (11.28, 12.29) | ||
348 | Congenital myasthenic syndrome with intellectual disability and ataxia (11.26) | ||
349 | Congenital myasthenic syndrome with nephrotic syndrome (11.34) | ||
350 | Congenital myopathy 10A, severe variant (3.30, 3.29) | ||
351 | Congenital myopathy 10B, mild variant (3.30, 3.29) | ||
352 | Congenital Myopathy 11 (10.120, 3.43) | ||
353 | Congenital myopathy 12 (3.41) | ||
354 | Congenital myopathy 13 (3.51, 3.52) | ||
355 | Congenital myopathy 14 (3.53) | ||
356 | Congenital myopathy 15 (3.54) | ||
357 | Congenital myopathy 16 (17.10, 12.93, 3.55) | ||
358 | Congenital myopathy 1A, dominant, with susceptibility to malignant hyperthermia (8.1, 3.26, 3.27, 3.23, 5.40, 3.25, 2.51, 17.32, 3.64) | ||
359 | Congenital myopathy 1B, recessive (8.1, 3.26, 3.27, 3.23, 5.40, 3.25, 2.51, 17.32, 3.64) | ||
360 | Congenital Myopathy 22A, classic (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60) | ||
361 | Congenital Myopathy 22B, severe fetal (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60) | ||
362 | Congenital myopathy 25 (3.66) | ||
363 | Congenital myopathy 2A, typical (3.2, 3.38, 3.1, 3.37, 2.46) | ||
364 | Congenital myopathy 2B, severe infantile (3.2, 3.38, 3.1, 3.37, 2.46) | ||
365 | Congenital myopathy 2C, severe infantile, dominant (3.2, 3.38, 3.1, 3.37, 2.46) | ||
366 | Congenital myopathy 3 with rigid spine (2.13, 5.13) | ||
367 | Congenital myopathy 5 with cardiomyopathy (formerly Salih myopathy) (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101) | ||
368 | Congenital myopathy 6 with ophtalmoplegia (3.34) | ||
369 | Congenital myopathy 7A, myosin storage, autosomal dominant (4.6, 3.31, 10.56, 3.33, 10.108, 3.32) | ||
370 | Congenital myopathy 7B, myosin storage, autosomal recessive (4.6, 3.31, 10.56, 3.33, 10.108, 3.32) | ||
371 | Congenital myopathy 8 (10.64, 10.25, 3.48, 4.10) | ||
372 | Congenital myopathy 9A (3.49, 3.50) | ||
373 | Congenital myopathy 9B, proximal with minicore (3.49, 3.50) | ||
374 | Congenital Myopathy related to PYROXD1 (5.9, 1.58, 3.61) | ||
375 | Congenital Myopathy related to TNPO3 (1.17, 3.62) | ||
376 | Congenital myopathy with fatal cardiomyopathy (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101) | ||
377 | Congenital myopathy with ophthalmoplegia related to CACNA1S (7.8, 8.5, 3.44, 1.23, 3.57) | ||
378 | Congenital myopathy with Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction (3.67) | ||
379 | congenital skeletal myopathy and fatal cardiomyopathy (10.4, 3.40, 10.76, 10.113) | ||
380 | CPT deficiency, hepatic, type II (9.22) | ||
381 | CRASH syndrome (15.87) | ||
382 | CRASH syndrome (15.87) | ||
383 | Creatine phosphokinase, elevated serum (1.20, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16) | ||
384 | Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) (1.20, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16) | ||
385 | Danon disease (5.18) | ||
386 | Deafness, autosomal dominant nonsyndromic sensorineural 10 (10.47) | ||
387 | Dejerine-Sottas neuropathy, autosomal recessive (14.30, 14.46) | ||
388 | Dejerine-Sottas syndrome (14.2, 14.44, 14.55, 14.56, 14.29, 14.17) | ||
389 | Dejerine-Sottas syndrome (14.4, 14.28, 14.45) | ||
390 | Dejerine-Sottas Syndrome (14.1, 14.43, 14.5, 14.6) | ||
391 | Desmin-related myopathy (5.1, 10.46, 5.15, 10.135, 11.44) | ||
392 | Desmin-related myopathy with Mallory bodies (2.13, 5.13) | ||
393 | Developmental delay with hypotonia, myopathy and brain abnormalities (2.47) | ||
394 | Dilated cardiomyopathy realted to GATAD1 (10.82) | ||
395 | Dilated cardiomyopathy related to alpha-crystallin (5.2, 10.72, 14.78) | ||
396 | Dilated cardiomyopathy related to BAG3 (5.7, 10.71, 14.75) | ||
397 | Dilated cardiomyopathy related to cardiac ankyrin repeat protein (10.80, 10.22) | ||
398 | Dilated Cardiomyopathy related to DOLK (10.94) | ||
399 | Dilated cardiomyopathy related to integrin-linked kinase (10.79) | ||
400 | Dilated cardiomyopathy related to laminin-alpha4 (10.73) | ||
401 | Dilated cardiomyopathy related to MURC (10.93) | ||
402 | Dilated cardiomyopathy related to MYBPC3 (10.4, 3.40, 10.76, 10.113) | ||
403 | Dilated cardiomyopathy related to nesprin-1 (1.5, 13.68, 17.23, 10.92) | ||
404 | Dilated cardiomyopathy related to PRDM16 (10.75, 10.111) | ||
405 | Dilated cardiomyopathy related to RAF1 (10.77) | ||
406 | dilated cardiomyopathy, 1aa (10.64, 10.25, 3.48, 4.10) | ||
407 | Dilated cardiomyopathy, 1F ( | ? - (6q23) | |
408 | Dilated cardiomyopathy, 1I (5.1, 10.46, 5.15, 10.135, 11.44) | ||
409 | Dilated Cardiomyopathy, 1L (1.29, 10.49) | ||
410 | Dilated cardiomyopathy, 1N (10.51, 2.16, 10.27) | ||
411 | Dilated cardiomyopathy, 1OO (10.78) | ||
412 | Dilated cardiomyopathy, 2C (10.83) | ||
413 | Dilated cardiomyopathy, 2D (10.84) | ||
414 | Dilated cardiomyopathy, 2E (10.18, 10.85) | ||
415 | Dilated cardiomyopathy, 2F (10.86) | ||
416 | Dilated cardiomyopathy, 2G (10.87) | ||
417 | Dilated cardiomyopathy, 2H (10.89) | ||
418 | Dilated cardiomyopathy, 2I (10.88) | ||
419 | Dilated cardiomyopathy, related to DSG2 (10.123, 10.65) | ||
420 | Distal hereditary motor neuropathies (14.14, 12.47) | ||
421 | Distal motor neuropathy (12.33, 15.80) | ||
422 | Distal motor neuropathy related to SYT2 (11.14, 12.46, 11.15) | ||
423 | Distal Myopathy (4.26) | ||
424 | Distal myopathy with nebulin defect (3.5, 4.17, 4.18) | ||
425 | Distal myopathy, late-onset (12.63, 4.29) | ||
426 | Distal Spinal Muscular Atrophy with Calf Predominance (12.28) | ||
427 | Distal spinal muscular atrophy, type VB (15.13, 12.34, 12.10) | ||
428 | Duchenne muscular dystrophy (1.1, 10.91) | ||
429 | Dusty core disease related to RYR1 (8.1, 3.26, 3.27, 3.23, 5.40, 3.25, 2.51, 17.32, 3.64) | ||
430 | Dysmyelinating leukodystrophy (15.41) | ||
431 | Dyssegmental dysplasia, Silverman-Handmaker type (6.8) | ||
432 | Dystrophia myotonica (6.1) | ||
433 | Early onset axonal neuropathy with sensory ataxia (14.74) | ||
434 | Early onset distal myopathy with KLHL9 mutations (4.21) | ||
435 | Early-onset axonal Charcot-Marie-Tooth with ataxia (14.82, 14.94) | ||
436 | Early-onset myofibrillar myopathy with PYRODX1 defect (5.9, 1.58, 3.61) | ||
437 | Emery-Dreifuss Autosomal recessive (1.3, 1.4, 10.39, 2.17, 14.81) | ||
438 | Emery-dreifuss muscular dystrophy 1 (1.2) | ||
439 | Emery-dreifuss muscular dystrophy 4 (1.5, 13.68, 17.23, 10.92) | ||
440 | Emery-dreifuss muscular dystrophy 6 (1.7, 5.33, 5.34, 5.35) | ||
441 | Emery-dreifuss muscular dystrophy 7 (10.119, 1.8) | ||
442 | Emery-Dreifuss muscular dystrophy, autosomal dominant (1.3, 1.4, 10.39, 2.17, 14.81) | ||
443 | Endocardial fibroelastosis-2 (10.90, 10.103) | ||
444 | Enolase deficiency (9.20) | ||
445 | Epidermolysis bullosa simplex associated with late-onset muscular dystrophy (5.29, 1.34, 11.36, 1.57) | ||
446 | episodic ataxia type 5, included (13.50) | ||
447 | episodic ataxia type 6 (13.51) | ||
448 | episodic ataxia type-3 (13.49) | ? - (1q42) | |
449 | episodic ataxia type-7 (13.52) | ? - (19q13) | |
450 | Episodic ataxia type-9 (13.53) | ||
451 | Episodic ataxia with myokymia (7.12) | ||
452 | Episodic ataxia, type 2 (7.9, 13.6, 13.54, 7.10, 13.48) | ||
453 | episodic muscle weakness, x-linked (5.36) | ? - (Xp22.3) | |
454 | Episodic pain syndrome, familial 3 (14.112, 14.123) | ||
455 | Erythrocyte lactate transporter defect (9.21) | ||
456 | Erythromelalgia, Primary (14.107, 14.122) | ||
457 | Escobar syndrome (multiple pterygium syndrome) (11.35) | ||
458 | Exertional myoglobinuria due to deficiency of LDH-A (9.19) | ||
459 | Facio-scapulo-humeral muscular dystrophy (1.12) | ||
460 | Facio-scapulo-humeral muscular dystrophy, type 2 (1.11) | ||
461 | Familial amyloid neuropathy (17.4) | ||
462 | Familial amyotrophic lateral sclerosis (4.13, 12.74) | ||
463 | Familial brachial plexus neuropathy (14.128) | ||
464 | Familial dysautonomia (Riley-Day syndrome) (17.3, 14.108) | ELP1 (9q31.3) Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein ![]() ![]() ![]() ![]() | |
465 | Familial hypertrophic cardiomyopathy, 13 (10.12, 10.63) | ||
466 | Familial hypertrophic cardiomyopathy, 14 (10.1, 10.68, 10.13, 10.189) | ||
467 | Familial imb-girdle myasthenia with tubular aggregates related to DPAGT1 (11.21) | DPAGT1 (11q23.3) Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) ![]() ![]() ![]() ![]() | |
468 | Familial limb girdle myasthenia related to agrin (11.16, 17.33) | ||
469 | Familial limb girdle myasthenia with tubular aggregates related to GFPT1 (11.20) | ||
470 | Familial limb-girdle myasthenia related to DOK7 (11.18, 17.29) | ||
471 | familial sinusal bradycardia (10.188, 10.184) | ||
472 | Familial spastic paraplegia, autosomal dominant, 2 (15.2) | ||
473 | Fatty aldehyde dehydrogenase (15.83) | ||
474 | Fetal akinesia deformation related to AGRN (11.16, 17.33) | ||
475 | Fetal akinesia deformation sequance with MUSK defect (11.17, 17.28) | ||
476 | Fetal akinesia deformation sequence 2 (11.19, 17.30) | ||
477 | Fetal akinesia deformation sequence 3 (11.18, 17.29) | ||
478 | Fetal akinesia deformation sequence 4 (17.31) | ||
479 | Fetal akinesia deformation sequence related to RYR1 (8.1, 3.26, 3.27, 3.23, 5.40, 3.25, 2.51, 17.32, 3.64) | ||
480 | Fibrodysplasia ossificans progressiva (5.31) | ||
481 | Fibrosis of extraocular muscles, congenital, 1 (17.5) | ||
482 | Fibrosis of extraocular muscles, congenital, 2 (17.6) | ||
483 | Fibrosis of extraocular muscles, congenital, 3 (17.7) | ||
484 | Fibrosis of extraocular muscles, congenital, 5 (17.8) | ||
485 | Friedreich ataxia (13.57) | ||
486 | friedreich ataxia 2 (13.58) | ? - (9p23-p11) | |
487 | Friedreich ataxia with retained reflexes (13.57) | ||
488 | fukuyama congenital muscular dystrophy (1.46, 2.36, 2.22, 10.61) | ||
489 | Galloway-Mowat syndrome 1 (13.65) | ||
490 | Giant axonal neuropathy 2 (14.130) | ||
491 | Giant axonal neuropathy-1 (14.129) | ||
492 | Glycogen branching enzyme deficiency (9.3) | GBE1 (3p12) Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV) ![]() ![]() ![]() ![]() | |
493 | Glycogen storage disease II (9.1, 10.102, 1.54) | ||
494 | Glycogen storage disease IIb (5.18) | ||
495 | glycogen storage disease of heart, lethal congenital (10.5, 9.9) | ||
496 | glycogen storage disease type 0 (9.8) | ||
497 | Glycogen storage disease type IIIa (9.2) | ||
498 | Glycogen storage disease type IIIb (9.2) | ||
499 | Glycogen storage disease type IIIc (9.2) | ||
500 | Glycogen storage disease type IIId (9.2) | ||
501 | Glycogen storage disease VII (9.5) | ||
502 | Glycogen storage disease X (9.18) | ||
503 | Glycogen storage disease XI (9.19) | ||
504 | Glycogen storage disease XIII (9.20) | ||
505 | Glycogen storage disease XIV (9.15) | ||
506 | Glycogen storage disease XV (9.7, 9.11) | ||
507 | glycogen storage disease, type IXD (9.6) | ||
508 | Hereditary bundle branch system defect (10.138, 10.43, 10.177, 10.187, 10.167) | ||
509 | Hereditary motor and sensory neuropathy – Lom (with deafness) (14.27) | ||
510 | Hereditary motor and sensory neuropathy 2A (14.48, 14.80, 14.72) | ||
511 | Hereditary motor and sensory neuropathy V (12.38) | ? - (4q34.3-q35.2) | |
512 | Hereditary motor and sensory neuropathy, type VIA with optic atrophy (14.48, 14.80, 14.72) | ||
513 | Hereditary motor and sensory, neuropathy, proximal, type (14.71, 15.57) | ||
514 | Hereditary motor and sensory, type 1C (14.3) | ||
515 | Hereditary myopathy with early respiratory failure (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101) | ||
516 | Hereditary peripheral neuropathy (14.135) | ||
517 | hereditary sensory and autonomic neuropathy type ib with cough and gastroesophag (14.103) | ? - (3p24-p22) | |
518 | Hereditary sensory and autonomic neuropathy type IV (14.109) | ||
519 | Hereditary sensory and autonomic neuropathy type VI (14.111) | ||
520 | Hereditary sensory and autonomic neuropathy type VIII (14.113) | ||
521 | Hereditary sensory neuropathy type IF (14.117) | ||
522 | Hereditary sensory neuropathy with dementia and hearing loss (14.116) | ||
523 | Hereditary sensory neuropathy, type IIB (14.106) | ||
524 | Hutchinson-Gilford progeria syndrome (1.3, 1.4, 10.39, 2.17, 14.81) | ||
525 | Hydrocephalus with Hirschspung disease and cleft palate (15.87) | ||
526 | Hyperckemia, idiopathic (1.20, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16) | ||
527 | Hyperkalemic periodic paralysis (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60) | ||
528 | Hyperkalemic periodic paralysis, type 2 (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60) | ||
529 | Hypertrophic cardiomyopathy related calreticulin 3 (10.20) | ||
530 | Hypertrophic cardiomyopathy related to actinin-2 (10.64, 10.25, 3.48, 4.10) | ||
531 | Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein (10.80, 10.22) | ||
532 | Hypertrophic cardiomyopathy related to cardiac myopalladin (10.74, 3.13, 10.24, 10.99) | ||
533 | Hypertrophic cardiomyopathy related to junctophilin (10.18, 10.85) | ||
534 | Hypertrophic cardiomyopathy related to myozenin 2 (10.17) | ||
535 | Hypertrophic cardiomyopathy related to nexilin (10.66, 10.21) | ||
536 | Hypertrophic cardiomyopathy related to phospholamban (10.53, 10.19) | ||
537 | Hypertrophic cardiomyopathy related to TCAP (10.51, 2.16, 10.27) | ||
538 | Hypertrophic cardiomyopathy related to ZASP (5.5, 10.41, 4.19, 10.26, 10.106) | ||
539 | Hypertrophic cardiomyopathy, 21 (10.23) | ? - (7p12.1-q21) | |
540 | Hypertrophic cardiomyopathy, 28 (10.30) | ||
541 | Hypertrophic mitochondrial cardiomyopathy related to MRPL3 (10.34) | ||
542 | Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 (10.31) | ||
543 | Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II (9.22) | ||
544 | Hypokalaemic periodic paralysis (7.11, 10.182) | ||
545 | Hypokalaemic periodic paralysis (7.5) | ||
546 | Hypokalaemic periodic paralysis, type 1 (7.8, 8.5, 3.44, 1.23, 3.57) | ||
547 | Hypokalemic periodic paralysis (7.8, 8.5, 3.44, 1.23, 3.57) | ||
548 | Inclusion body myopathy and brain white matter abnormalities (12.76, 12.113) | ||
549 | Inclusion body myopathy with early-onset paget disease and frontotemporal dement (5.37, 4.22, 12.67, 1.56, 14.66) | ||
550 | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia (5.38, 5.22) | ||
551 | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (5.37, 4.22, 12.67, 1.56, 14.66) | ||
552 | Inclusion body myopathy, autosomal recessive (4.5) | ||
553 | Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy (9.33) | ||
554 | Infantile-onset multisystem disease with progressive muscle weakness (16.28) | ||
555 | Isolated inclusion body myopathy (4.7, 12.73, 3.35) | ||
556 | Jervell and Lange-Nielsen cardio-auditory syndrome (10.140, 10.157) | ||
557 | jervell and lange-nielsen syndrome (10.156, 10.136, 10.160, 10.154) | ||
558 | Kennedy disease (12.49) | ||
559 | Klippel-Feil syndrome with Nemalin myopathy and facial dysmorphism (3.14) | ||
560 | Kugelberg-Welander Syndrome (12.1, 12.3, 12.2, 12.4) | ||
561 | LAP1B related muscular dystrophy (1.9, 11.41) | ||
562 | Late onset spinal muscular atrophy related to HEXB (12.107) | ||
563 | late-onset spinal motor neuronopathy, Jokela type (12.45, 12.86, 16.24) | ||
564 | Left ventricular noncompaction 10 (10.4, 3.40, 10.76, 10.113) | ||
565 | Left ventricular noncompaction 2 (10.105) | ? - (11q15) | |
566 | Left ventricular noncompaction 3 (5.5, 10.41, 4.19, 10.26, 10.106) | ||
567 | Left ventricular noncompaction 4 (3.2, 3.38, 3.1, 3.37, 2.46) | ||
568 | Left ventricular noncompaction 5 (4.6, 3.31, 10.56, 3.33, 10.108, 3.32) | ||
569 | Left ventricular noncompaction 6 (10.2, 10.42, 10.98, 10.109) | ||
570 | Left ventricular noncompaction 7 (10.110) | ||
571 | LEFT VENTRICULAR NONCOMPACTION 8 (10.75, 10.111) | ||
572 | Left ventricular noncompaction 8 (10.75, 10.111) | ||
573 | Left ventricular noncompaction 9 (10.3, 10.62, 10.112) | ||
574 | Lethal congenital contractural syndrome 3 (12.92) | ||
575 | Lethal congenital contracture syndrome 1 (12.90) | ||
576 | Lethal Congenital Contracture Syndrome 10 (12.99) | ||
577 | Lethal Congenital Contracture Syndrome 11 (12.100) | ||
578 | Lethal congenital contracture syndrome 2 (12.91) | ||
579 | Lethal Congenital Contracture Syndrome 4 (17.10, 12.93, 3.55) | ||
580 | Lethal Congenital Contracture Syndrome 5 (3.18, 2.15, 4.20, 14.15, 12.94) | ||
581 | Lethal Congenital Contracture Syndrome 6 (12.95) | ||
582 | Lethal congenital contracture syndrome 7 (12.96, 14.36) | ||
583 | Lethal Congenital Contracture Syndrome 8 (12.97) | ||
584 | Lethal Congenital Contracture Syndrome 9 (12.98) | ||
585 | Lethal Congenital Contracture Syndrome related to TTN (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101) | ||
586 | Leukodystrophy hypomyelinating 23 with ataxia, deafness, liver dysfunction and dilated cardiomyopathy (13.107) | ||
587 | LGMD related to DTNA (10.104) | ||
588 | LGMD related to KBTBD13 (3.8) | ||
589 | LGMD related to PYROXD1 (5.9, 1.58, 3.61) | ||
590 | LGMDD1 (1.16, 4.24, 4.25) | ||
591 | LGMDD4 (1.24, 1.19) | ||
592 | LGMDD5 (2.2, 2.6) | ||
593 | LGMDD5 (2.5, 2.4, 2.7, 2.12, 2.3) | ||
594 | LGMDD5 (2.8, 2.4) | ||
595 | LGMDR10 (Formerly LGMD2J) (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101) | ||
596 | LGMDR20 (2.25, 1.48) | ||
597 | LGMDR22 (2.2, 2.6) | ||
598 | LGMDR22 (2.5, 2.4, 2.7, 2.12, 2.3) | ||
599 | LGMDR22 (2.8, 2.4) | ||
600 | LGMDR23 (2.1, 1.37) | ||
601 | LGMDR24 (2.26, 1.49) | ||
602 | LGMDR26 (1.39) | ||
603 | Limb girdle muscular dystrophy 1E (autosomal dominant) (5.1, 10.46, 5.15, 10.135, 11.44) | ||
604 | Limb girdle muscular dystrophy 2J (autosomal recessive) (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101) | ||
605 | Limb girdle muscular dystrophy with ophthalmoplegia (5.29, 1.34, 11.36, 1.57) | ||
606 | Limb-Girdle, Muscular dystrophy, type 1G (1.18) | ||
607 | Limb-girdle, muscular dystrophy, type 1h (1.21) | ? - (3p23-p25) | |
608 | Limb-Girdle, Muscular dystrophy, type 2M (1.46, 2.36, 2.22, 10.61) | ||
609 | Limb-girdle, muscular dystrophy, type 2n (2.20, 2.34, 1.44) | ||
610 | Limb-girdle, muscular dystrophy, type 2o (2.35, 2.21, 1.45) | ||
611 | Limb-girdle, muscular dystrophy, type 2q (5.29, 1.34, 11.36, 1.57) | ||
612 | Limb-Girdle, Muscular dystrophy, type 2R (5.1, 10.46, 5.15, 10.135, 11.44) | ||
613 | Limb-Girdle, Muscular dystrophy, type 2S (1.35, 2.42) | ||
614 | Limb-Girdle, Muscular dystrophy, type 2T (1.52, 2.39, 2.32, 11.37) | ||
615 | Limb-Girdle, Muscular dystrophy, type 2V (9.1, 10.102, 1.54) | ||
616 | Limb-Girdle, Muscular dystrophy, type 2W (1.55) | ||
617 | Limb-Girdle, Muscular dystrophy, type 2X (1.38) | ||
618 | Limb-Girdle, Muscular dystrophy, type 2Y (1.9, 11.41) | ||
619 | Limb-Girdle, Muscular dystrophy, type 2Z (1.36) | ||
620 | Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency (9.34) | ||
621 | lipodystrophy, congenital generalized, type 4 (1.13) | ||
622 | Lipodystrophy, familial partial, type 2 (1.3, 1.4, 10.39, 2.17, 14.81) | ||
623 | Long QT syndrome 10 (10.145, 10.174) | ||
624 | Long QT syndrome 11 (10.146) | ||
625 | Long QT syndrome 12 (10.147) | ||
626 | Long QT syndrome 13 (10.152, 10.148) | ||
627 | Long QT syndrome 14 (10.131, 10.149) | ||
628 | Long QT syndrome 15 (10.150) | ||
629 | Long QT syndrome 16 (10.151, 10.133) | ||
630 | Long QT syndrome 9 (1.20, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16) | ||
631 | Long QT syndrome-1 (10.156, 10.136, 10.160, 10.154) | ||
632 | Long QT syndrome-2 (10.137, 10.153) | ||
633 | Long QT syndrome-3 (10.138, 10.43, 10.177, 10.187, 10.167) | ||
634 | Long QT syndrome-4 (10.139) | ||
635 | Long QT syndrome-5 (10.140, 10.157) | ||
636 | Long QT syndrome-6 (10.141, 10.161) | ||
637 | Long QT syndrome-7 (10.155, 10.166, 10.142) | ||
638 | Lower motor neuron disease with respiratory failure related to MAPT (12.111) | ||
639 | luma related muscular dystrophy (10.119, 1.8) | ||
640 | Lysosomal storage myopathy (3.65) | ||
641 | Machado-Joseph disease (13.3) | ||
642 | Malignant hyperthermia susceptibility 1 (8.1, 3.26, 3.27, 3.23, 5.40, 3.25, 2.51, 17.32, 3.64) | ||
643 | Malignant hyperthermia susceptibility 2 (8.2) | ? - (17q11.2-q24) | |
644 | Malignant hyperthermia susceptibility 3 (8.3) | ? - (7q21-q22) | |
645 | Malignant hyperthermia susceptibility 4 (8.4) | ? - (3q13.1) | |
646 | Malignant hyperthermia susceptibility 5 (7.8, 8.5, 3.44, 1.23, 3.57) | ||
647 | Malignant hyperthermia susceptibility 6 (8.6) | ? - (5p) | |
648 | Mandibuloacral dysplasia with type a lipodystrophy (1.3, 1.4, 10.39, 2.17, 14.81) | ||
649 | Marinesco-Sjogren syndrome (13.97) | ||
650 | Marssili syndrome (insensitivity to pain, congenital, AD) (14.121) | ||
651 | MASA syndrome (15.87) | ||
652 | McArdle disease (9.4) | ||
653 | Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression (17.38) | ||
654 | minicore myopathy with external ophthalmoplegia (8.1, 3.26, 3.27, 3.23, 5.40, 3.25, 2.51, 17.32, 3.64) | ||
655 | Mitochondrial complex 1 deficiency, nuclear type 11 (10.31) | ||
656 | Mitochondrial complex 1 deficiency, nuclear type 20 (9.29) | ||
657 | Mitochondrial complex I deficiency, nuclear type 29 (16.31) | ||
658 | Mitochondrial complex IV deficiency (16.34) | ||
659 | Mitochondrial complex IV deficiency, nuclear type 11 (12.114) | ||
660 | Mitochondrial complex IV deficiency, nuclear type 18 (16.26) | ||
661 | Mitochondrial complex IV deficiency, nuclear type 2 (10.37, 14.96) | ||
662 | Mitochondrial complex IV deficiency, nuclear type 6 (10.38) | ||
663 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) (16.12) | ||
664 | Mitochondrial DNA depletion syndrome 11 (16.17) | ||
665 | Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) (16.2, 16.19, 16.18) | ||
666 | Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) (16.2, 16.19, 16.18) | ||
667 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) (17.43) | ||
668 | Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) (16.21, 16.20) | ||
669 | Mitochondrial DNA depletion syndrome 20 (MNGIE type) (17.54) | ||
670 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) (16.10, 16.14) | ||
671 | Mitochondrial DNA depletion syndrome 4A (Alpers type) (16.1, 13.98, 16.7, 16.16, 16.15) | ||
672 | Mitochondrial DNA depletion syndrome 4B (MNGIE type) (16.1, 13.98, 16.7, 16.16, 16.15) | ||
673 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (17.39) | ||
674 | Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) (17.41, 16.5, 17.40) | ||
675 | Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) (17.42) | ||
676 | Mitochondrial dna depletion syndrome, myopathic form (16.13, 13.28, 16.9) | ||
677 | Mitochondrial hypertrophic cardiomyopathy related to AARS2 (10.33) | ||
678 | Mitochondrial hypertrophic cardiomyopathy related to MRPL44 (10.36) | ||
679 | Mitochondrial hypertrophic cardiomyopathy related to MTO1 (10.35) | ||
680 | Mitochondrial hypertrophic cardiomyopathy related to TSFM (10.32) | ||
681 | Mitochondrial myopathy (17.38) | ||
682 | Mitochondrial myopathy and multiple mtDNA deletions (16.36) | ||
683 | Mitochondrial myopathy and sideroblastic anemia 1 (16.22) | ||
684 | Mitochondrial myopathy related to SLC25A26 (16.35) | ||
685 | Mitochondrial myopathy with lactic acidosis, cognitive impairment and autistic features (16.32) | ||
686 | Mitochondrial myopathy with severe neurological manifestations (16.27) | ||
687 | Mitochondrial myopathy, episodic with or withour atrophy and reversible leukoencephalopathy (16.30) | ||
688 | Miyoshi muscular dystrophy 2 (4.2) | ? - (8q22.3) | |
689 | Miyoshi muscular dystrophy 3
(1.33, 4.3, 1.14) | ||
690 | Miyoshi myopathy (4.1, 1.25) | ||
691 | Multiminicore disease, classical form (2.13, 5.13) | ||
692 | Multiple acyl-coa dehydrogenase deficiency (9.27) | ||
693 | Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) (9.25) | ||
694 | Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) (9.26) | ||
695 | Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) (9.27) | ||
696 | Multiple mitochondrial dysfunctions syndrome 10 (16.37) | ||
697 | Muscle dystrophy with congenital disorder of glycosylation (9.16) | ||
698 | Muscle dystrophy with congenital disorder of glycosylation, type Io (1.53, 2.40) | ||
699 | Muscle hypertrophy (5.30) | ||
700 | Muscle weakness with hyperlaxity, orofacial abnormalities and respiratory infections (5.41, 5.46) | ||
701 | Muscle-eye-brain disease (1.52, 2.39, 2.32, 11.37) | ||
702 | Muscle-eye-brain disease (1.47, 2.23, 2.37) | ||
703 | Muscle-eye-brain disease (2.20, 2.34, 1.44) | ||
704 | Muscular dystrophy related to GOSR2 (2.43) | ||
705 | Muscular dystrophy with gnathodiaphyseal dysplasia (1.33, 4.3, 1.14) | ||
706 | Muscular dystrophy with hearing loss and ovarian insufficiency syndrome (1.15) | ||
707 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, (2.26, 1.49) | ||
708 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.20, 2.34, 1.44) | ||
709 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.35, 2.21, 1.45) | ||
710 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.19, 1.43, 2.33) | ||
711 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.24, 2.38) | ||
712 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (1.47, 2.23, 2.37) | ||
713 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), ( | ||
714 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (1.46, 2.36, 2.22, 10.61) | ||
715 | Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B15 (1.53, 2.40) | ||
716 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.35, 2.21, 1.45) | ||
717 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.24, 2.38) | ||
718 | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda (1.47, 2.23, 2.37) | ||
719 | Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t (1.46, 2.36, 2.22, 10.61) | ||
720 | Muscular dystrophy-dystroglycanopathy (limb-girdle) (1.50, 2.27) | ||
721 | Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C12 (2.30, 1.51) | ||
722 | Muscular dystrophy-dystrooglycanopathy (congenital with mental retardation), type B1 (2.19, 1.43, 2.33) | ||
723 | Muscular dystrophy, autosomal dominant, with rimmed vacuoles ( | ? - (19p13) | |
724 | Muscular dystrophy, congenital Davignon-Chauveau type (2.48, 12.16) | ||
725 | Muscular dystrophy, congenital merosin-deficient (2.1, 1.37) | ||
726 | Muscular dystrophy, congenital, due to ITGA7 deficiency (2.14) | ||
727 | Muscular dystrophy, congenital, with cataracts and intellectual disability (2.49) | ||
728 | Muscular dystrophy, facioscapulohumeral, type 1A (1.10) | ||
729 | Muscular dystrophy, LGMDR27 (1.40) | ||
730 | Muscular dystrophy, limb-girdle, autosomal recessive 12 (1.33, 4.3, 1.14) | ||
731 | Muscular dystrophy, limb-girdle, autosomal recessive 15 (2.35, 2.21, 1.45) | ||
732 | Muscular dystrophy, limb-girdle, autosomal recessive 29 (1.42) | ||
733 | Muscular dystrophy, Limb-Girdle, type 1A (5.3, 5.4, 4.16) | ||
734 | Muscular dystrophy, limb-girdle, type 1B (1.3, 1.4, 10.39, 2.17, 14.81) | ||
735 | Muscular dystrophy, Limb-Girdle, Type 1F (1.17, 3.62) | ||
736 | Muscular dystrophy, limb-girdle, type 1G ( | ? - (4q21) | |
737 | Muscular dystrophy, limb-girdle, type 2A (1.24, 1.19) | ||
738 | Muscular dystrophy, limb-girdle, type 2B (4.1, 1.25) | ||
739 | Muscular dystrophy, limb-girdle, type 2C (1.28) | ||
740 | Muscular dystrophy, limb-girdle, type 2D (1.26) | ||
741 | Muscular dystrophy, limb-girdle, type 2E (1.27) | ||
742 | Muscular dystrophy, limb-girdle, type 2F (1.29, 10.49) | ||
743 | Muscular dystrophy, limb-girdle, type 2G (10.51, 2.16, 10.27) | ||
744 | Muscular dystrophy, limb-girdle, type 2H (1.31, 3.42) | ||
745 | Muscular dystrophy, limb-girdle, type 2I (1.47, 2.23, 2.37) | ||
746 | Muscular dystrophy, Limb-Girdle, type 2K (2.19, 1.43, 2.33) | ||
747 | Muscular dystrophy, limb-girdle, type IC (1.20, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16) | ||
748 | Muscular dystrophy, rigid spine, 1 (2.13, 5.13) | ||
749 | Muscular dystrophy; limb-girdle, autosomal recessive 28 (1.41) | ||
750 | Myasthenia gravis, autosomal recessive (11.13) | ||
751 | Myasthenia gravis, familial infantile (11.13) | ||
752 | Myasthenia gravis, familial infantile, 2 (11.13) | ||
753 | Myasthenia, congenital, 12, with tubular aggregates (11.20) | ||
754 | Myasthenic syndrome, acetazolamide-responsive (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60) | ||
755 | Myasthenic syndrome, congenital (11.19, 17.30) | ||
756 | Myasthenic syndrome, congenital associated with acetylcholine receptor deficiency (11.1, 11.5, 11.43) | ||
757 | Myasthenic syndrome, congenital, 10 (11.18, 17.29) | ||
758 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (11.19, 17.30) | ||
759 | Myasthenic syndrome, congenital, 13, with tubular aggregates (11.21) | DPAGT1 (11q23.3) Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) ![]() ![]() ![]() ![]() | |
760 | Myasthenic syndrome, congenital, 14, with tubular aggregates (11.22) | ||
761 | Myasthenic syndrome, congenital, 15, without tubular aggregates (11.23) | ||
762 | Myasthenic syndrome, congenital, 16 (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60) | ||
763 | Myasthenic syndrome, congenital, 1A, Slow-channel (11.1, 11.5, 11.43) | ||
764 | Myasthenic syndrome, congenital, 1B, Fast-channel (11.1, 11.5, 11.43) | ||
765 | Myasthenic Syndrome, Congenital, 21, Presynaptic (11.29) | ||
766 | Myasthenic syndrome, congenital, 22 (11.30) | ||
767 | Myasthenic syndrome, congenital, 2A, Slow-channel (11.2, 11.9, 11.6) | ||
768 | Myasthenic syndrome, congenital, 2B, Fast-channel (11.2, 11.9, 11.6) | ||
769 | Myasthenic syndrome, congenital, 3B, Fast-channel (11.3, 11.7, 11.10) | ||
770 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (11.4, 11.8, 11.11) | ||
771 | Myasthenic syndrome, congenital, 5 (11.12) | ||
772 | Myasthenic syndrome, congenital, 6, presynaptic (11.13) | ||
773 | Myasthenic syndrome, congenital, 7, presynaptic and distal motor neuropathy, autosomal dominant (11.14, 12.46, 11.15) | ||
774 | Myasthenic syndrome, congenital, 7B, presynaptic (11.14, 12.46, 11.15) | ||
775 | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (11.17, 17.28) | ||
776 | Myasthenic syndrome, congenital, Ie, included (11.2, 11.9, 11.6) | ||
777 | Myasthenic syndrome, fast-channel congenital (11.1, 11.5, 11.43) | ||
778 | Myasthenic syndrome, fast-channel congenital (11.4, 11.8, 11.11) | ||
779 | Myasthenic syndrome, fast-channel congenital (11.3, 11.7, 11.10) | ||
780 | Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy (11.14, 12.46, 11.15) | ||
781 | Myasthenic syndrome, slow-channel congenital (11.2, 11.9, 11.6) | ||
782 | Myasthenic syndrome, slow-channel congenital (11.3, 11.7, 11.10) | ||
783 | Myasthenic syndrome, slow-channel congenital (11.1, 11.5, 11.43) | ||
784 | Myasthenic syndrome, slow-channel congenital (11.4, 11.8, 11.11) | ||
785 | Myasthenic syndrome, with plectin defect (5.29, 1.34, 11.36, 1.57) | ||
786 | Myoclonus-dystonia syndrome (17.2) | ||
787 | Myofibrillar myopathy 1 (5.1, 10.46, 5.15, 10.135, 11.44) | ||
788 | Myofibrillar myopathy 10 (5.11) | ||
789 | Myofibrillar myopathy 11 (5.12) | ||
790 | myofibrillar myopathy with bag3 defect (5.7, 10.71, 14.75) | ||
791 | myofibrillar myopathy ZASP-related (5.5, 10.41, 4.19, 10.26, 10.106) | ||
792 | Myofibrillar myopathy, alpha-B crystallin related (5.2, 10.72, 14.78) | ||
793 | Myofibrillar myopathy, myotilin related (5.3, 5.4, 4.16) | ||
794 | Myopathy centronuclear, 1 (3.18, 2.15, 4.20, 14.15, 12.94) | ||
795 | Myopathy distal, Tateyama type (1.20, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16) | ||
796 | Myopathy due to CPT II deficiency (9.22) | ||
797 | Myopathy due to phosphoglycerate mutase deficiency (9.18) | ||
798 | Myopathy microfibrillar type 7 (5.8) | ||
799 | Myopathy with characteristic sarcoplasmic inclusions (5.44) | ||
800 | myopathy with deficiency of succinate dehydrogenase and aconitase (5.39) | ||
801 | Myopathy with early respiratory failure (5.16) | ||
802 | myopathy with exercise intolerance, swedish type (5.39) | ||
803 | Myopathy with extrapyramidal signs (5.45) | ||
804 | myopathy with lactic acidosis, hereditary (5.39) | ||
805 | Myopathy with myalgia, increased serum creatine kinase and with or without episodic rhabdomyolysis (9.12) | ||
806 | Myopathy with nemaline bodies (3.15) | ||
807 | Myopathy, autosomal recessive, with rigid spine and distal joint contractures (1.9, 11.41) | ||
808 | Myopathy, cardiomyopathy and congenital myasthenic syndrome (5.1, 10.46, 5.15, 10.135, 11.44) | ||
809 | Myopathy, congenital, progressive with scoliosis (3.58) | ||
810 | Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies (3.56) | ||
811 | Myopathy, congenital, With excess of muscle spindles (3.46) | ||
812 | myopathy, congenital, with fiber-type disproportion (3.2, 3.38, 3.1, 3.37, 2.46) | ||
813 | myopathy, congenital, with fiber-type disproportion (2.13, 5.13) | ||
814 | myopathy, congenital, with fiber-type disproportion (10.9) | ||
815 | myopathy, congenital, with fiber-type disproportion (8.1, 3.26, 3.27, 3.23, 5.40, 3.25, 2.51, 17.32, 3.64) | ||
816 | Myopathy, congenital, with malignant hyperthermia susceptibility (3.51, 3.52) | ||
817 | Myopathy, Congenital, With Neuropathy And Deafness (3.45) | ||
818 | Myopathy, distal 1 (4.6, 3.31, 10.56, 3.33, 10.108, 3.32) | ||
819 | Myopathy, Distal 3 (4.7, 12.73, 3.35) | ||
820 | Myopathy, distal 6, Adult-onset (10.64, 10.25, 3.48, 4.10) | ||
821 | Myopathy, distal, 4 (5.6, 4.8, 10.28, 10.100) | ||
822 | Myopathy, distal, 5 (4.9) | ||
823 | Myopathy, distal, 7 adult onset, X-linked (4.11) | ||
824 | Myopathy, distal, with rimmed vacuoles (12.87, 4.23, 4.15) | ||
825 | Myopathy, lactic acidosis, and sideroblastic anemia-2 (16.23) | ||
826 | Myopathy, mitochondrial and cerebellar ataxia (13.106, 2.50, 16.29) | ||
827 | Myopathy, mitochondrial progressive, with congenital cataract and developmental delay (16.33) | ||
828 | Myopathy, myofibrillar, 2 (5.2, 10.72, 14.78) | ||
829 | Myopathy, myofibrillar, filamin C-related (5.6, 4.8, 10.28, 10.100) | ||
830 | Myopathy, myosin storage, autosomal dominant (4.6, 3.31, 10.56, 3.33, 10.108, 3.32) | ||
831 | Myopathy, reducing body, X-linked, childhood-onset (1.7, 5.33, 5.34, 5.35) | ||
832 | Myopathy, reducing body, X-linked, severe early-onset (1.7, 5.33, 5.34, 5.35) | ||
833 | Myopathy, X-linked, with excessive autophagy (5.19) | ||
834 | myosclerosis, autosomal recessive (2.5, 2.4, 2.7, 2.12, 2.3) | ||
835 | Myosin storage myopathy (4.6, 3.31, 10.56, 3.33, 10.108, 3.32) | ||
836 | Myosin, heavy chain, perinatal (17.19) | ||
837 | Myotonia congenita, autosomal dominant, Thomsen disease (7.1, 6.3, 6.4, 7.2) | ||
838 | Myotonia congenita, autosomal recessive, Becker disease (7.1, 6.3, 6.4, 7.2) | ||
839 | Myotonia potassium-aggravatd (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60) | ||
840 | Myotonia recessive (7.1, 6.3, 6.4, 7.2) | ||
841 | Myotonic dystrophy 1 (6.1) | ||
842 | Myotonic dystrophy, type 2 (6.2) | ||
843 | Myotubular myopathy, X-linked (3.17) | ||
844 | Myxomatous valvular dystrophy, X-ninked (10.114) | ||
845 | naxos disease (10.134, 10.125) | ||
846 | Nemalin myopathy with distal arthrogryposis (17.13, 3.16) | ||
847 | Nemaline myopathy (3.9) | ||
848 | Nemaline myopathy (3.11) | ||
849 | Nemaline myopathy (3.12) | ||
850 | Nemaline myopathy (10.74, 3.13, 10.24, 10.99) | ||
851 | Nemaline myopathy 1, autosomal dominant (3.3, 3.4) | ||
852 | Nemaline myopathy 2, autosomal recessive (3.5, 4.17, 4.18) | ||
853 | Nemaline myopathy 3 (3.2, 3.38, 3.1, 3.37, 2.46) | ||
854 | Nemaline myopathy 4 (3.6, 3.36, 17.9, 17.15) | ||
855 | Nemaline myopathy 5 (3.7) | ||
856 | Nemaline myopathy 6 (3.8) | ||
857 | Nemaline Myopathy with
Cardiomyopathy (3.14) | ||
858 | Nesprin-2 related muscular dystrophy (1.6) | ||
859 | Neurodegeneration with brain iron accumulation 4 (15.43) | ||
860 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (12.116) | ||
861 | Neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies (17.27) | ||
862 | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (14.136, 14.79) | ||
863 | Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy and Epilepsy (13.109) | ||
864 | Neurological impairment (13.55) | ||
865 | Neuromuscular disorder, congenital, with dysmorphic facies (5.17) | ||
866 | Neuromyotonia and axonal neuropathy, autosomal recessive (14.85, 12.21) | ||
867 | Neuronal intranuclear inclusion diseases (14.134, 5.25, 14.77) | ||
868 | Neuronopathy, Distal hereditary motor related to HINT1 (14.85, 12.21) | ||
869 | Neuronopathy, distal hereditary motor, autosomal dominant 10 (12.32) | ||
870 | Neuronopathy, distal hereditary motor, autosomal dominant 12 (15.13, 12.34, 12.10) | ||
871 | Neuronopathy, distal hereditary motor, autosomal dominant 13 (15.9, 12.35) | ||
872 | Neuronopathy, distal hereditary motor, autosomal dominant 14 (12.36, 12.84) | ||
873 | Neuronopathy, distal hereditary motor, autosomal recessive 10 (12.103, 14.132, 12.14) | ||
874 | Neuronopathy, distal hereditary motor, type I (12.23) | ? - (7q34-q36) | |
875 | neuronopathy, distal hereditary motor, type IIC (12.26) | ||
876 | Neuronopathy, distal hereditary motor, type IX (12.31) | ||
877 | Neuronopathy, distal hereditary motor, type VIIA, with vocal cord paralysis (Harper-Young) (11.28, 12.29) | ||
878 | Neuronopathy, distal hereditary motor, type VIII (12.30, 12.39, 14.50) | ||
879 | Neuropathy, axonal motor-sensory, with deafness and mental retardation (14.40, 17.44, 13.108) | ||
880 | Neuropathy, congenital hypomyelinating, 1 (14.4, 14.28, 14.45) | ||
881 | Neuropathy, congenital hypomyelinating, 2 (14.2, 14.44, 14.55, 14.56, 14.29, 14.17) | ||
882 | Neuropathy, distal hereditary motor type V (14.51, 12.27) | ||
883 | Neuropathy, distal hereditary motor, autosomal recessive 6 (15.13, 12.34, 12.10) | ||
884 | Neuropathy, distal hereditary motor, autosomal recessive 9 (17.53, 12.13) | ||
885 | Neuropathy, distal hereditary motor, type II (14.58, 12.24, 4.27, 4.28) | ||
886 | Neuropathy, distal hereditary motor, type IIB (14.53, 12.25) | ||
887 | Neuropathy, distal hereditary motor, with pyramidal features (12.57, 13.95) | ||
888 | Neuropathy, hereditary motor and sensory, lom type (14.27) | ||
889 | Neuropathy, hereditary motor and sensory, Okinawa type (14.71, 15.57) | ||
890 | Neuropathy, hereditary motor and sensory, type VIB (12.104) | ||
891 | Neuropathy, hereditary motor, autosomal recessive 8 (14.98, 12.12) | ||
892 | Neuropathy, hereditary motor, with myopathic features (12.11) | ||
893 | neuropathy, hereditary sensory and autonomic type v (14.110) | ||
894 | Neuropathy, hereditary sensory and autonomic, type 1 (14.102, 12.80) | ||
895 | Neuropathy, hereditary sensory and autonomic, type IC (14.104) | ||
896 | neuropathy, hereditary sensory and autonomic, type iia (14.105) | ||
897 | Neuropathy, hereditary sensory and autonomic, type IID (14.107, 14.122) | ||
898 | Neuropathy, hereditary sensory and autonomic, type III (17.3, 14.108) | ELP1 (9q31.3) Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein ![]() ![]() ![]() ![]() | |
899 | Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay (15.49, 14.114) | ||
900 | Neuropathy, hereditary sensory and autonomic, type VII (14.112, 14.123) | ||
901 | Neuropathy, hereditary sensory, type 1 (14.102, 12.80) | ||
902 | Neuropathy, hereditary sensory, type 1E (14.116) | ||
903 | Neuropathy, hereditary sensory, type ID (15.1, 14.115) | ||
904 | Neuropathy, hereditary sensory, type IIC (15.39, 14.118, 15.12) | ||
905 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive (14.133) | ||
906 | Neuropathy, recurrent, with pressure palsies (14.1, 14.43, 14.5, 14.6) | ||
907 | Neutral lipid storage disease without ichthyosis (9.31) | ||
908 | Nonaka myopathy (4.5) | ||
909 | Noncompaction of left ventricular myocardium, isolated (10.90, 10.103) | ||
910 | Oculopharyngeal muscular dystorphy (5.21) | ||
911 | Oculopharyngeal muscular dystrophy related to HNRNPA2B1 (5.38, 5.22) | ||
912 | Oculopharyngeal myopathy with leukoencephalopathy 1 (5.28) | ||
913 | Oculopharyngodistal myopathy (14.134, 5.25, 14.77) | ||
914 | Oculopharyngodistal myopathy 1 (5.23, 12.81) | ||
915 | Oculopharyngodistal myopathy 2 (5.24) | ||
916 | Oculopharyngodistal myopathy 4 (5.26) | ||
917 | Oculopharyngodistal myopathy 5 (5.27) | ||
918 | Olivopontocerebellar atrophy I (13.1) | ||
919 | Olivopontocerebellar atrophy II (13.2, 12.66) | ||
920 | Olivopontocerebellar atrophy III (13.7) | ||
921 | Paramyotonia congenita of Von Eulenburg (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60) | ||
922 | patient with HCM and isolated respiratory complex I deficiency (10.31) | ||
923 | Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom (10.155, 10.166, 10.142) | ||
924 | Peripheral neuropathy and deafness, autosomal dominant (14.127) | ||
925 | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (12.112, 14.99) | ||
926 | Peripheral neuropathy, myopathy, hoarseness and hearing loss (12.110) | ||
927 | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (17.37) | ||
928 | Polyglucosan Body Myopathy 1 with or without immunodeficiency (9.10) | RBCK1 (20p13) RanBP-type and C3HC4-type zinc finger containing 1 (heme-oxidized IRP2 ubiquitin ligase 1) ![]() ![]() ![]() ![]() | |
929 | Polyglucosan Body Myopathy 2 (9.7, 9.11) | ||
930 | Polyneuropathy with erythromelalgia (14.124) | ||
931 | Pontocerebellar hypoplasia type 1 (12.103, 14.132, 12.14) | ||
932 | Pontocerebellar hypoplasia, type 1D (12.20) | ||
933 | posphoglycerate kinase deficiency (9.17) | ||
934 | Potassium-aggravated myotonia (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60) | ||
935 | Presynaptic congenital myasthenic sydrome related to MUNC13-1 (11.39) | ||
936 | Presynaptic congenital myasthenic syndrome (11.38) | ||
937 | Presynaptic congenital myasthenic syndrome 23 (11.31) | SLC25A1 (22q11.21) Solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1(M) ![]() ![]() ![]() ![]() | |
938 | Presynaptic congenital myasthenic syndrome 24 (11.32) | ||
939 | Presynaptic congenital myasthenic syndrome 25 (15.91, 11.33) | ||
940 | Primary lateral sclerosis, juvenile (12.55, 15.84) | ||
941 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal (16.1, 13.98, 16.7, 16.16, 16.15) | ||
942 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal (13.60, 16.3) | ||
943 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal (17.41, 16.5, 17.40) | ||
944 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal (16.2, 16.19, 16.18) | ||
945 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (16.6) | ||
946 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 (16.11) | ||
947 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (16.1, 13.98, 16.7, 16.16, 16.15) | ||
948 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 (16.8) | ||
949 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 (16.13, 13.28, 16.9) | ||
950 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 (16.10, 16.14) | ||
951 | Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with deafness (16.21, 16.20) | ||
952 | progressive external ophthalmoplegia, autosomal dominant, 4 (16.4) | ||
953 | Progressive familial heart block, type I (10.138, 10.43, 10.177, 10.187, 10.167) | ||
954 | Progressive neuropathy (12.115) | ||
955 | Proximal myotonic myopathy (6.2) | ||
956 | PURA syndrome with neurmuscular junction manisfestations (11.45) | ||
957 | Reccurrent myoglobinuria, autosomal recessive (9.32) | ||
958 | Recessive neonatal isolated DC (10.70) | ||
959 | Refsum disease, adult (13.103) | ||
960 | Refsum disease, adult (13.104) | ||
961 | Restrictive cardiomyopathy, 2 (10.97) | ? - (10) | |
962 | Restrictive cardiomyopathy, 6 (10.101) | ||
963 | restrictive dermopathy (1.3, 1.4, 10.39, 2.17, 14.81) | ||
964 | Rigid spince syndrome related to HMGCS1 (2.18) | ||
965 | Rigid spine syndrome (1.7, 5.33, 5.34, 5.35) | ||
966 | Rigid spine syndrome (2.13, 5.13) | ||
967 | Rigid spine syndrome related to FHL1 (1.7, 5.33, 5.34, 5.35) | ||
968 | Rigid spine syndrome related to SEPN1 (2.13, 5.13) | ||
969 | Rimmed vacuole myopathy (14.58, 12.24, 4.27, 4.28) | ||
970 | Rippling muscle disease (1.20, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16) | ||
971 | Rippling muscle disease, dominant (6.5) | ? - (1q41) | |
972 | Romano-Ward syndrome (10.156, 10.136, 10.160, 10.154) | ||
973 | Sarcotubular myopathy (1.31, 3.42) | ||
974 | Scapuloperoneal muscular dystrophy and dropped head syndrome (5.37, 4.22, 12.67, 1.56, 14.66) | ||
975 | Scapuloperoneal myopathy, X-linked dominant (1.7, 5.33, 5.34, 5.35) | ||
976 | Scapuloperoneal spinal muscular atrophy (12.30, 12.39, 14.50) | ||
977 | Schwartz-Jampel syndrome, type 1 (6.8) | ||
978 | Segmental amyoplasia with Distal Arthrogryposis (17.36) | ||
979 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (16.1, 13.98, 16.7, 16.16, 16.15) | ||
980 | Sensory-motor neuropathy with oculofacial apraxia (12.48) | ||
981 | Severe autosomal-recessive nemaline myopathy (3.10) | ||
982 | Severe foetal hypokinesia related to SCN4A (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60) | ||
983 | Short qt syndrome 1 (10.137, 10.153) | ||
984 | Sick Sinus Syndrome 1, autosomal recessive (10.138, 10.43, 10.177, 10.187, 10.167) | ||
985 | Sick Sinus Syndrome 2, autosomal dominant (10.188, 10.184) | ||
986 | Sick sinus syndrome 3 (10.1, 10.68, 10.13, 10.189) | ||
987 | Sjogren-Larsson syndrome (15.83) | ||
988 | Slowed nerve conduction velocity, autosomal dominant (14.13) | ||
989 | Sodium-channel myasthenia (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60) | ||
990 | Sorbitol dehydrogenase deficiency with peripheral neuropathy (14.98, 12.12) | ||
991 | Spastic ataxia 10, autosomal recessive (17.52, 15.99) | ||
992 | Spastic ataxia 4 autosomal recessive (15.94) | ||
993 | Spastic ataxia 5 autosomal recessive (13.25, 15.95) | ||
994 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy (15.97) | ||
995 | Spastic ataxia 9, autosomal recessive (15.98) | ||
996 | Spastic ataxia Charlevoix-Saguenay type (15.96, 13.102, 14.97) | ||
997 | Spastic ataxia, Charlevoix-Saguenay type (15.96, 13.102, 14.97) | ||
998 | Spastic paralysis, infantile onset ascending (12.55, 15.84) | ||
999 | Spastic paraplegia 2 (15.88) | ||
1000 | Spastic paraplegia 4 (15.2) | ||
1001 | Spastic paraplegia 5A (15.24) | ||
1002 | Spastic paraplegia 6 uncomplicated,autosomal dominant,Strumpell-Lorrain type (15.3) | ||
1003 | Spastic paraplegia 7 (15.25) | ||
1004 | Spastic paraplegia 8 (15.4) | ||
1005 | Spastic paraplegia 9 (15.5, 15.26) | ||
1006 | Spastic paraplegia 10 (15.6, 14.73, 12.78) | ||
1007 | Spastic paraplegia 11 (15.27, 12.58, 14.93) | ||
1008 | Spastic paraplegia 12 (15.7, 12.15) | ||
1009 | Spastic paraplegia 13 (15.8) | ||
1010 | Spastic paraplegia 14 (15.28) | ? - (3q27-q28) | |
1011 | Spastic paraplegia 15 (15.29) | ||
1012 | Spastic paraplegia 16 (15.89) | ? - (Xq11.2-q23) | |
1013 | Spastic paraplegia 17 (15.9, 12.35) | ||
1014 | Spastic paraplegia 18 (15.30, ) | ||
1015 | Spastic paraplegia 18A7, autosomal dominant (15.30, ) | ||
1016 | Spastic paraplegia 19 (15.10) | ? - (9q33-q34) | |
1017 | Spastic paraplegia 20 (15.31) | ||
1018 | Spastic paraplegia 20 (15.32) | ||
1019 | Spastic paraplegia 20 (15.38) | ||
1020 | Spastic paraplegia 23 (15.33) | ? - (1q24-q32) | |
1021 | Spastic paraplegia 24 (15.34) | ? - (13q14) | |
1022 | Spastic paraplegia 25 (15.35) | ? - (6q23.3-q24.1) | |
1023 | Spastic paraplegia 26 (15.36, 14.100) | ||
1024 | Spastic paraplegia 27 (15.37) | ? - (10q22.1-q24.1) | |
1025 | Spastic paraplegia 29 (15.11) | ? - (1p31-p21) | |
1026 | Spastic paraplegia 3, autosomal dominant (Strumpell disease) (15.1, 14.115) | ||
1027 | Spastic paraplegia 30 (15.39, 14.118, 15.12) | ||
1028 | Spastic paraplegia 31 (15.13, 12.34, 12.10) | ||
1029 | spastic paraplegia 32, autosomal recessive (15.40) | ? - (14q12-q21) | |
1030 | Spastic paraplegia 33 (15.14) | ||
1031 | Spastic paraplegia 34, X-linked (15.90) | ? - (Xq24-q25) | |
1032 | Spastic paraplegia 35, autosomal recessive (15.41) | ||
1033 | Spastic paraplegia 36, autosomal dominant (15.15) | ? - (12q23-q24) | |
1034 | Spastic paraplegia 37, autosomal dominant (15.16) | ? - (8p21.1-q13.3) | |
1035 | Spastic paraplegia 38, autosomal dominant (15.17) | ? - (4p16-p15) | |
1036 | Spastic paraplegia 39, autosomal recessive (15.42) | ||
1037 | Spastic paraplegia 41, autosomal dominant (15.18) | ? - (11p14.1-p11.2) | |
1038 | Spastic paraplegia 42, autosomal dominant (15.19) | ||
1039 | Spastic paraplegia 43, autosomal recessive (15.43) | ||
1040 | Spastic paraplegia 44, autosomal recessive (15.44) | ||
1041 | Spastic paraplegia 45, autosomal recessive (15.45) | ||
1042 | Spastic paraplegia 46, autosomal recessive (15.46) | ||
1043 | Spastic paraplegia 47, autosomal recessive (15.47) | ||
1044 | Spastic paraplegia 48, autosomal recessive (15.48) | ||
1045 | Spastic paraplegia 49, autosomal recessive (15.49, 14.114) | ||
1046 | Spastic paraplegia 50, autosomal recessive (15.50) | ||
1047 | Spastic paraplegia 51, autosomal recessive (15.51) | ||
1048 | Spastic paraplegia 52, autosomal recessive (15.52) | ||
1049 | Spastic paraplegia 53, autosomal recessive (15.53) | ||
1050 | Spastic paraplegia 54, autosomal recessive (15.54) | ||
1051 | Spastic paraplegia 55, autosomal recessive (15.55) | ||
1052 | Spastic paraplegia 56, autosomal recessive (15.56) | ||
1053 | Spastic paraplegia 57, autosomal recessive (14.71, 15.57) | ||
1054 | Spastic paraplegia 61, autosomal recessive (15.58) | ||
1055 | Spastic paraplegia 62 autosomal recessive (15.59) | ||
1056 | Spastic paraplegia 63, autosomal recessive (15.60) | ||
1057 | Spastic paraplegia 64, autosomal recessive (15.61) | ||
1058 | Spastic paraplegia 70, autosomal recessive (14.63, 15.62) | ||
1059 | Spastic paraplegia 72, autosomal dominant (15.63, 15.20) | ||
1060 | Spastic paraplegia 72, autosomal recessive (15.63, 15.20) | ||
1061 | Spastic paraplegia 73, autosomal dominant (15.21) | ||
1062 | Spastic paraplegia 74, autosomal recessive (15.64) | ||
1063 | Spastic paraplegia 75, autosomal recessive (15.65) | ||
1064 | Spastic paraplegia 76, autosomal recessive (15.66, 12.22) | ||
1065 | Spastic paraplegia 77, autosomal recessive (15.67) | ||
1066 | Spastic paraplegia 78, autosomal recessive (15.68) | ||
1067 | Spastic paraplegia 79, autosomal dominant (15.69, ) | ||
1068 | Spastic paraplegia 79, autosomal recessive (15.69, ) | ||
1069 | Spastic paraplegia 80, autosomal dominant (15.22) | ||
1070 | Spastic paraplegia 81, autosomal recessive (15.70) | ||
1071 | Spastic paraplegia 82, autosomal recessive (15.71) | ||
1072 | Spastic paraplegia 83, autosomal recessive (15.72) | ||
1073 | Spastic paraplegia 84, autosomal recessive (15.73) | ||
1074 | Spastic paraplegia 85, autosomal recessive (15.74) | ||
1075 | Spastic paraplegia 86, autosomal recessive (15.75) | ||
1076 | Spastic paraplegia 87, autosomal recessive (15.76) | ||
1077 | Spastic paraplegia 88, autosomal dominant (15.77) | ||
1078 | Spastic paraplegia 89, autosomal recessive (15.78) | ||
1079 | Spastic paraplegia 90B, autosomal recessive (15.79) | ||
1080 | Spastic paraplegia 91, autosomal recessive, with or without cerebellar ataxia (12.33, 15.80) | ||
1081 | Spastic paraplegia 92, autosomal recessive (15.81) | ||
1082 | Spastic paraplegia 93, autosomal recessive (15.82) | ||
1083 | Spastic paraplegia 9A, autosomal recessive (15.5, 15.26) | ||
1084 | Spastic paraplegia and psychomotor retardation with or without seizures (15.86) | ||
1085 | Spastic paraplegia, intellectual disability, nystagmus, and obesity (15.23) | ||
1086 | Spastic paraplegia, optic atrophy, and neuropathy (15.85) | ||
1087 | Spectraplakinopathy (17.35) | ||
1088 | Spheroid body myopathy (5.3, 5.4, 4.16) | ||
1089 | Spinal and bulbar muscular atrophy of Kennedy (12.49) | ||
1090 | Spinal motor neuropathy (12.40) | ||
1091 | Spinal muscular atrophy 1 (12.1, 12.3, 12.2, 12.4) | ||
1092 | Spinal muscular atrophy 2 (12.1, 12.3, 12.2, 12.4) | ||
1093 | Spinal muscular atrophy 3 (12.1, 12.3, 12.2, 12.4) | ||
1094 | Spinal muscular atrophy 4 (12.1, 12.3, 12.2, 12.4) | ||
1095 | Spinal muscular atrophy and cerebellar hypoplasia (12.19) | ||
1096 | Spinal muscular atrophy congenital non progressive of lower limbs (12.30, 12.39, 14.50) | ||
1097 | Spinal Muscular Atrophy type IV related to CAPN1 (15.66, 12.22) | ||
1098 | Spinal muscular atrophy with congenital bone fractures 1 (2.48, 12.16) | ||
1099 | Spinal muscular atrophy with congenital bone fractures 2 (12.17, 17.25) | ||
1100 | Spinal muscular atrophy with pontocerebellar hypoplasia related to KIF26B (12.109) | ||
1101 | Spinal muscular atrophy with pontocerebellar hypoplasia, type 1b (12.102) | ||
1102 | Spinal muscular atrophy with progressive myoclonic epilepsy (12.18) | ||
1103 | Spinal muscular atrophy with respiratory distress (12.5, 14.91) | ||
1104 | Spinal muscular atrophy with respiratory distress (SMARD) (12.52) | ||
1105 | Spinal muscular atrophy, congenital benin, with contractures (12.30, 12.39, 14.50) | ||
1106 | Spinal muscular atrophy, distal related to DNAJB2 (12.9, 14.84) | ||
1107 | Spinal muscular atrophy, distal, autosomal recessive (12.103, 14.132, 12.14) | ||
1108 | spinal muscular atrophy, distal, autosomal recessive, 2 (12.6, 12.69) | ||
1109 | spinal muscular atrophy, distal, autosomal recessive, 3 (12.7) | ? - (11q13) | |
1110 | spinal muscular atrophy, distal, autosomal recessive, 4 (12.8, 14.88) | ||
1111 | Spinal muscular atrophy, distal, autosomal recessive, 5 (12.9, 14.84) | ||
1112 | Spinal muscular atrophy, distal, type V (14.51, 12.27) | ||
1113 | Spinal muscular atrophy, distal, x-linked 3 (12.51) | ||
1114 | Spinal muscular atrophy, distal, X-linked, 2 (12.50) | ||
1115 | Spinal muscular atrophy, distal, Xlinked, related to UBA1 (12.50) | ||
1116 | Spinal muscular atrophy, late-onset, Finkel type (12.61, 12.44) | ||
1117 | Spinal muscular atrophy, lower extremity-predominant, autosomal dominant 2B (12.42, 12.43, 17.24) | ||
1118 | Spinal muscular atrophy, lower extremity, autosomal dominant (14.60, 12.41) | ||
1119 | Spinal muscular atrophy, lower extremity, autosomal dominant 2 (12.42, 12.43, 17.24) | ||
1120 | Spinal muscular atrophy, related to PRUNE1 (12.108) | ||
1121 | Spinobulbar muscular atrophy (SBMA)
(12.85, 12.117) | ||
1122 | Spinocerebellar ataxia (13.91) | ||
1123 | Spinocerebellar ataxia (13.89) | ||
1124 | Spinocerebellar ataxia 1 (13.1) | ||
1125 | Spinocerebellar ataxia 2 (13.2, 12.66) | ||
1126 | Spinocerebellar ataxia 3 (13.3) | ||
1127 | Spinocerebellar ataxia 4 (13.4) | ? - (16q22.1) | |
1128 | Spinocerebellar ataxia 5 (13.5, 13.74) | ||
1129 | Spinocerebellar ataxia 6 (7.9, 13.6, 13.54, 7.10, 13.48) | ||
1130 | Spinocerebellar ataxia 7 (13.7) | ||
1131 | Spinocerebellar ataxia 8 (13.8) | ||
1132 | Spinocerebellar ataxia 10 (13.9) | ||
1133 | Spinocerebellar ataxia 11 (13.10) | ||
1134 | Spinocerebellar ataxia 12 (13.11) | ||
1135 | Spinocerebellar ataxia 13 (13.12) | ||
1136 | Spinocerebellar ataxia 14 (13.13) | ||
1137 | Spinocerebellar ataxia 15 (13.14) | ||
1138 | Spinocerebellar ataxia 17 (13.15) | ||
1139 | Spinocerebellar ataxia 18 (13.16) | ||
1140 | Spinocerebellar ataxia 19 (13.19) | ||
1141 | Spinocerebellar ataxia 19 (13.17, 10.185) | ||
1142 | Spinocerebellar ataxia 20 (13.18) | ? - (11q12.2-11q12.3) | |
1143 | Spinocerebellar ataxia 21 (13.20) | ? - (1p21-q23) | |
1144 | Spinocerebellar ataxia 23 (13.21) | ||
1145 | Spinocerebellar ataxia 25 (13.22) | ||
1146 | Spinocerebellar ataxia 26 (13.23) | ||
1147 | Spinocerebellar ataxia 27 (13.24) | ||
1148 | Spinocerebellar ataxia 28 (13.25, 15.95) | ||
1149 | Spinocerebellar ataxia 30 (13.27) | ? - (4q34.3-q35.1) | |
1150 | Spinocerebellar ataxia 31 (13.32) | ||
1151 | Spinocerebellar ataxia 32 (13.29) | ? - (7q32-q33) | |
1152 | Spinocerebellar ataxia 34 (13.30) | ||
1153 | Spinocerebellar ataxia 35 (13.31) | ||
1154 | Spinocerebellar ataxia 37 (13.33) | ? - (1p32) | |
1155 | Spinocerebellar ataxia 38 (13.34) | ||
1156 | Spinocerebellar ataxia 40 (13.35) | ||
1157 | Spinocerebellar ataxia 41 (13.36) | ||
1158 | Spinocerebellar ataxia 42 (13.37, 13.38) | ||
1159 | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (13.37, 13.38) | ||
1160 | Spinocerebellar ataxia 44 (13.40, 13.73) | ||
1161 | Spinocerebellar ataxia 45 (13.41) | ||
1162 | Spinocerebellar ataxia 46 (13.42) | ||
1163 | Spinocerebellar ataxia 47 (13.43) | ||
1164 | Spinocerebellar ataxia 48 (13.76, 13.44) | ||
1165 | Spinocerebellar ataxia 49 (13.56, 13.45) | ||
1166 | Spinocerebellar ataxia 50 (13.46) | ||
1167 | Spinocerebellar ataxia 51 (13.47) | ||
1168 | Spinocerebellar ataxia with axonal neuropathy type 2 (12.57, 13.95) | ||
1169 | Spinocerebellar ataxia with axonal neuropathy type 3 (13.96) | ||
1170 | spinocerebellar ataxia with epilepsy, included (16.1, 13.98, 16.7, 16.16, 16.15) | ||
1171 | spinocerebellar ataxia-31 (13.28) | ||
1172 | Spinocerebellar ataxia, autosomal recessive 1 (12.57, 13.95) | ||
1173 | Spinocerebellar ataxia, autosomal recessive 10 (13.70) | ||
1174 | Spinocerebellar ataxia, autosomal recessive 11 (13.71) | ||
1175 | Spinocerebellar ataxia, autosomal recessive 12 (13.72) | ||
1176 | Spinocerebellar ataxia, autosomal recessive 13 (13.40, 13.73) | ||
1177 | Spinocerebellar ataxia, autosomal recessive 14 (13.5, 13.74) | ||
1178 | Spinocerebellar ataxia, autosomal recessive 15 (13.75) | ||
1179 | Spinocerebellar ataxia, autosomal recessive 16 (13.76, 13.44) | ||
1180 | Spinocerebellar ataxia, autosomal recessive 17 (13.77) | ||
1181 | Spinocerebellar ataxia, autosomal recessive 18 (13.78) | ||
1182 | Spinocerebellar ataxia, autosomal recessive 19 (13.79) | ||
1183 | Spinocerebellar ataxia, autosomal recessive 20 (13.80) | ||
1184 | Spinocerebellar ataxia, autosomal recessive 21 (13.81) | ||
1185 | Spinocerebellar ataxia, autosomal recessive 22 (13.82) | ||
1186 | Spinocerebellar ataxia, autosomal recessive 23 (13.83) | ||
1187 | Spinocerebellar ataxia, autosomal recessive 24 (13.84) | ||
1188 | Spinocerebellar ataxia, autosomal recessive 25 (13.85) | ||
1189 | Spinocerebellar ataxia, autosomal recessive 26 (13.86) | ||
1190 | Spinocerebellar ataxia, autosomal recessive 27 (13.87) | ||
1191 | Spinocerebellar ataxia, autosomal recessive 28 (13.88) | ||
1192 | Spinocerebellar ataxia, autosomal recessive 3 (13.63) | ? - (6p23-p21) | |
1193 | Spinocerebellar ataxia, autosomal recessive 30 (13.90) | ||
1194 | Spinocerebellar ataxia, autosomal recessive 32 (13.92) | ||
1195 | Spinocerebellar ataxia, autosomal recessive 33 ( | ||
1196 | Spinocerebellar ataxia, autosomal recessive 34 (13.30, 13.93) | ||
1197 | Spinocerebellar ataxia, autosomal recessive 4 (13.64) | ||
1198 | Spinocerebellar ataxia, autosomal recessive 6 (13.66) | ? - (20q11-q13) | |
1199 | Spinocerebellar ataxia, autosomal recessive 7 (13.67) | ||
1200 | Spinocerebellar ataxia, autosomal recessive 8 (1.5, 13.68, 17.23, 10.92) | ||
1201 | spinocerebellar ataxia, autosomal recessive 9 (13.69, 17.49) | ||
1202 | spinocerebellar ataxia, autosomal recessive, with axonal neuropathy (13.94) | ||
1203 | Spinocerebellar ataxia, infantile-onset, with sensory neuropathy (13.60, 16.3) | ||
1204 | Spinocerebellar Ataxia, type 43 (14.92, 13.39) | ||
1205 | Steinert disease (6.1) | ||
1206 | Susceptibility to amyotrophic lateral sclerosis related to dynactin 1 (12.36, 12.84) | ||
1207 | Susceptibility to amyotrophic lateral sclerosis related to NEFH (12.82, 14.68) | ||
1208 | Susceptibility to amyotrophic lateral sclerosis related to peripherin (12.83) | ||
1209 | Thyrotoxic periodic paralysis, susceptibility to, 2 (7.13) | ||
1210 | Tibial muscular dystrophy, tardive (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101) | ||
1211 | Timothy syndrome (10.143, 10.179) | ||
1212 | Torsion dystonia, early onset (17.1) | ||
1213 | Tubular aggregate myopathy 1 (5.41, 5.46) | ||
1214 | Tubular aggregate myopathy 2 (5.42) | ||
1215 | Ullrich congenital muscular dystrophy (2.2, 2.6) | ||
1216 | Ullrich congenital muscular dystrophy (2.8, 2.4) | ||
1217 | Ullrich congenital muscular dystrophy 2 (2.9, 2.10, 2.11) | ||
1218 | Ullrich scleroatonic muscular dystrophy (2.5, 2.4, 2.7, 2.12, 2.3) | ||
1219 | Vacuolar myopathy with CASQ1 aggregates (5.43) | ||
1220 | Ventricular fibrillation, idiopathic (10.138, 10.43, 10.177, 10.187, 10.167) | ||
1221 | Ventricular fibrillation, paroxysmal familial (10.138, 10.43, 10.177, 10.187, 10.167) | ||
1222 | ventricular tachycardia, catecholaminergic polymorphi (10.129) | ||
1223 | Ventricular tachycardia, catecholaminergic polymorphic (10.116, 10.128) | ||
1224 | Ventricular tachycardia, catecholaminergic polymorphic 6 (10.151, 10.133) | ||
1225 | Ventricular tachycardia, catecholaminergic polymorphic, recessive (10.130) | ||
1226 | Ventricular tachycardia, catecholaminergic polymorphic, recessive (10.131, 10.149) | ||
1227 | Ventricular tachycardia, stress-induced polymorphic (10.116, 10.128) | ||
1228 | Vocal cord and pharyngeal distal myopathy (4.13, 12.74) | ||
1229 | Walker-Warburg syndrome (2.19, 1.43, 2.33) | ||
1230 | Walker-Warburg syndrome ( | ||
1231 | Walker-Warburg syndrome (1.46, 2.36, 2.22, 10.61) | ||
1232 | Walker-Warburg syndrome (1.47, 2.23, 2.37) | ||
1233 | Walker-Warburg syndrome (2.20, 2.34, 1.44) | ||
1234 | Walker-Warburg syndrome (2.26, 1.49) | ||
1235 | Walker-Warburg syndrome (WWS) (2.31) | ||
1236 | Walker-Warburg syndrome (WWS) (2.25, 1.48) | ||
1237 | Welander distal myopathy (4.14, 4.15, 12.79) | ||
1238 | Welander-like distal myopathy (12.87, 4.23, 4.15) | ||
1239 | Wieacker-Wolff syndrome (5.47) | ||
1240 | X-linked myopathy with postural muscle atrophy (1.7, 5.33, 5.34, 5.35) |