| # |
Family |
MCID |
Name |
MIFTS |
| 1 |
|
NRF026 |
Neurofibromatosis, Type Iv, of Riccardi |
73 |
| 2 |
P
|
NRP053 |
Neuropathy, Hereditary Sensory and Autonomic, Type Iia |
46 |
| 3 |
c
|
NRD033 |
Neurodegeneration with Brain Iron Accumulation 2a |
59 |
| 4 |
c
|
GLY008 |
Glycogen Storage Disease Ii |
64 |
| 5 |
P
|
GLY013 |
Glycogen Storage Disease |
61 |
| 6 |
c
|
GLY060 |
Glycogen Storage Disease Ia |
57 |
| 7 |
c
|
GLY003 |
Glycogen Storage Disease Iii |
55 |
| 8 |
c
|
GLY004 |
Glycogen Storage Disease V |
54 |
| 9 |
c
|
GLY007 |
Glycogen Storage Disease Iv |
51 |
| 10 |
c
|
GLY005 |
Glycogen Storage Disease Vi |
51 |
| 11 |
c
|
GLY011 |
Glycogen Storage Disease Vii |
48 |
| 12 |
c
|
GLY098 |
Glycogen Storage Disease, Type Ixd |
40 |
| 13 |
c
|
GLY016 |
Glycogen Storage Disease Ib |
35 |
| 14 |
c
|
GLY023 |
Glycogen Storage Disease Type 0 |
34 |
| 15 |
c
|
GLY044 |
Glycogen Storage Disease Ixc |
31 |
| 16 |
c
|
GLY057 |
Glycogen Storage Disease X |
29 |
| 17 |
c
|
GLY017 |
Glycogen Storage Disease Ic |
28 |
| 18 |
c
|
GLY043 |
Glycogen Storage Disease Xii |
27 |
| 19 |
c
|
GLY097 |
Glycogen Storage Disease Ixb |
26 |
| 20 |
c
|
GLY009 |
Glycogen Storage Disease Xv |
26 |
| 21 |
c
|
GLY059 |
Glycogen Storage Disease Xiii |
22 |
| 22 |
c
|
GLY006 |
Glycogen Storage Disease Viii |
20 |
| 23 |
c
|
GLY093 |
Glycogen Storage Disease Ixa |
17 |
| 24 |
c
|
GLY001 |
Glycogen Storage Disease Ix |
12 |
| 25 |
|
LKN026 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation |
32 |
| 26 |
c
|
NRP041 |
Neuropathy, Hereditary Sensory, Type Ie |
37 |
| 27 |
c
|
NRD017 |
Neurodegeneration with Brain Iron Accumulation 1 |
55 |
| 28 |
c
|
NRD032 |
Neurodegeneration with Brain Iron Accumulation 5 |
45 |
| 29 |
|
MNT304 |
Mental Retardation, X-Linked, with or Without Seizures, Arx-Related |
20 |
| 30 |
|
HYP186 |
Hypertrophic Neuropathy of Dejerine-Sottas |
45 |
| 31 |
|
BRN028 |
Brain Cancer |
72 |
| 32 |
|
NRP051 |
Neuropathy, Hereditary, with Liability to Pressure Palsies |
56 |
| 33 |
c
|
NRP037 |
Neuropathy, Hereditary Sensory and Autonomic, Type V |
48 |
| 34 |
|
MTC016 |
Mitochondrial Neurogastrointestinal Encephalopathy Disease |
30 |
| 35 |
|
ABD002 |
Abducens Nerve Disease |
29 |
| 36 |
|
MTC036 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
25 |
| 37 |
c
|
NRP033 |
Neuropathy, Hereditary Sensory and Autonomic, Type Ia |
31 |
| 38 |
|
CNC002 |
Cinca Syndrome |
62 |
| 39 |
c
|
CRD225 |
Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant |
25 |
| 40 |
|
RNP003 |
Renpenning Syndrome 1 |
52 |
| 41 |
|
NRP060 |
Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive |
50 |
| 42 |
|
NRM016 |
Neuromyotonia and Axonal Neuropathy, Autosomal Recessive |
30 |
| 43 |
c
|
HRD201 |
Hereditary Sensory and Autonomic Neuropathy Type 1 |
31 |
| 44 |
c
|
MNT135 |
Mental Retardation, X-Linked, Syndromic 13 |
36 |
| 45 |
|
PTT059 |
Pettigrew Syndrome |
41 |
| 46 |
|
DBT087 |
Diabetes Insipidus, Neurohypophyseal |
60 |
| 47 |
|
PNC119 |
Pancreatic Neuroendocrine Tumor |
48 |
| 48 |
|
MNT303 |
Mental Retardation, X-Linked, Syndromic, Cabezas Type |
28 |
| 49 |
c
|
DST030 |
Distal Hereditary Motor Neuropathy, Type V |
20 |
| 50 |
c
|
CRD177 |
Ceroid Lipofuscinosis, Neuronal, 1 |
60 |
| 51 |
P
|
GNT009 |
Giant Axonal Neuropathy |
51 |
| 52 |
c
|
NRD008 |
Neurodegeneration with Brain Iron Accumulation 3 |
38 |
| 53 |
|
CMB026 |
Combined Oxidative Phosphorylation Deficiency 12 |
28 |
| 54 |
c
|
NRP031 |
Neuropathy, Hereditary Sensory and Autonomic, Type Vii |
26 |
| 55 |
|
NRP045 |
Neuropathy, Ataxia, and Retinitis Pigmentosa |
31 |
| 56 |
P
|
CHR654 |
Charcot-Marie-Tooth Disease, Axonal, Type 2e |
54 |
| 57 |
|
CRD075 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
41 |
| 58 |
c
|
CRD184 |
Ceroid Lipofuscinosis, Neuronal, 5 |
32 |
| 59 |
c
|
CHR674 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b |
22 |
| 60 |
P
|
NRB001 |
Neuroblastoma |
72 |
| 61 |
|
INT319 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
31 |
| 62 |
|
MLG077 |
Malignant Peripheral Nerve Sheath Tumor |
60 |
| 63 |
c
|
CRD183 |
Ceroid Lipofuscinosis, Neuronal, 2 |
51 |
| 64 |
c
|
NRD014 |
Neurodegeneration with Brain Iron Accumulation 4 |
36 |
| 65 |
|
BRN048 |
Brain Stem Cancer |
31 |
| 66 |
|
ACS001 |
Acoustic Neuroma |
60 |
| 67 |
c
|
CRD182 |
Ceroid Lipofuscinosis, Neuronal, 10 |
43 |
| 68 |
P
|
NRD007 |
Neurodegeneration with Brain Iron Accumulation |
45 |
| 69 |
|
SPN040 |
Spinal Cancer |
42 |
| 70 |
c
|
NRD009 |
Neurodegeneration with Brain Iron Accumulation 2b |
40 |
| 71 |
|
INS023 |
Insensitivity to Pain, Congenital, with Anhidrosis |
40 |
| 72 |
c
|
CRD185 |
Ceroid Lipofuscinosis, Neuronal, 6 |
33 |
| 73 |
|
ATH001 |
Athabaskan Brainstem Dysgenesis Syndrome |
26 |
| 74 |
c
|
HRD010 |
Hereditary Spastic Paraplegia |
67 |
| 75 |
c
|
SPS222 |
Spastic Paraplegia 20, Autosomal Recessive |
51 |
| 76 |
c
|
SPS128 |
Spastic Paraplegia 7, Autosomal Recessive |
49 |
| 77 |
c
|
SPS215 |
Spastic Paraplegia 3, Autosomal Dominant |
48 |
| 78 |
c
|
SPS147 |
Spastic Paraplegia 4, Autosomal Dominant |
42 |
| 79 |
c
|
SPS125 |
Spastic Paraplegia 15, Autosomal Recessive |
41 |
| 80 |
c
|
SPS153 |
Spastic Paraplegia 35, Autosomal Recessive |
40 |
| 81 |
c
|
SPS116 |
Spastic Paraplegia 26, Autosomal Recessive |
39 |
| 82 |
c
|
SPS126 |
Spastic Paraplegia 49, Autosomal Recessive |
39 |
| 83 |
c
|
SPS103 |
Spastic Paraplegia 50, Autosomal Recessive |
38 |
| 84 |
c
|
SPS160 |
Spastic Paraplegia 73, Autosomal Dominant |
37 |
| 85 |
c
|
SPS122 |
Spastic Paraplegia 52, Autosomal Recessive |
37 |
| 86 |
c
|
SPS106 |
Spastic Paraplegia 54, Autosomal Recessive |
37 |
| 87 |
c
|
SPS124 |
Spastic Paraplegia 28, Autosomal Recessive |
37 |
| 88 |
c
|
SPS210 |
Spastic Paraplegia 76, Autosomal Recessive |
37 |
| 89 |
|
CWC001 |
Cowchock Syndrome |
37 |
| 90 |
c
|
SPS109 |
Spastic Paraplegia 46, Autosomal Recessive |
37 |
| 91 |
c
|
SPS148 |
Spastic Paraplegia 31, Autosomal Dominant |
37 |
| 92 |
c
|
SPS107 |
Spastic Paraplegia 18, Autosomal Recessive |
36 |
| 93 |
c
|
SPS095 |
Spastic Paraplegia 47, Autosomal Recessive |
36 |
| 94 |
c
|
SPS131 |
Spastic Paraplegia 12, Autosomal Dominant |
35 |
| 95 |
c
|
SPS127 |
Spastic Paraplegia 6, Autosomal Dominant |
35 |
| 96 |
c
|
SPS141 |
Spastic Paraplegia 61, Autosomal Recessive |
34 |
| 97 |
c
|
SPS099 |
Spastic Paraplegia 42, Autosomal Dominant |
34 |
| 98 |
c
|
SPS149 |
Spastic Paraplegia 8, Autosomal Dominant |
34 |
| 99 |
c
|
SPS101 |
Spastic Paraplegia 56, Autosomal Recessive |
34 |
| 100 |
c
|
SPS119 |
Spastic Paraplegia 55, Autosomal Recessive |
34 |
| 101 |
c
|
SPS102 |
Spastic Paraplegia 25, Autosomal Recessive |
33 |
| 102 |
c
|
SPS071 |
Spastic Paraplegia 48, Autosomal Recessive |
33 |
| 103 |
c
|
SPS096 |
Spastic Paraplegia 44, Autosomal Recessive |
33 |
| 104 |
c
|
SPS098 |
Spastic Paraplegia 30, Autosomal Recessive |
33 |
| 105 |
c
|
SPS123 |
Spastic Paraplegia 32, Autosomal Recessive |
33 |
| 106 |
c
|
SPS108 |
Spastic Paraplegia 5a, Autosomal Recessive |
33 |
| 107 |
c
|
SPS137 |
Spastic Paraplegia 57, Autosomal Recessive |
33 |
| 108 |
c
|
SPS097 |
Spastic Paraplegia 13, Autosomal Dominant |
32 |
| 109 |
c
|
SPS113 |
Spastic Paraplegia 33, Autosomal Dominant |
32 |
| 110 |
P
|
NRP059 |
Neuropathy, Hereditary Motor and Sensory, Type Via |
31 |
| 111 |
c
|
SPS130 |
Spastic Paraplegia 43, Autosomal Recessive |
31 |
| 112 |
c
|
SPS115 |
Spastic Paraplegia 41, Autosomal Dominant |
31 |
| 113 |
c
|
SPS031 |
Spastic Paraplegia 23 |
31 |
| 114 |
P
|
SPS012 |
Spastic Paraplegia 3a |
30 |
| 115 |
c
|
SPS114 |
Spastic Paraplegia 45, Autosomal Recessive |
30 |
| 116 |
c
|
SPS068 |
Spastic Paraplegia 14, Autosomal Recessive |
29 |
| 117 |
c
|
SPS120 |
Spastic Paraplegia 24, Autosomal Recessive |
28 |
| 118 |
c
|
SPS152 |
Spastic Paraplegia 51, Autosomal Recessive |
28 |
| 119 |
c
|
SPS159 |
Spastic Paraplegia 9b, Autosomal Recessive |
28 |
| 120 |
c
|
SPS118 |
Spastic Paraplegia 36, Autosomal Dominant |
27 |
| 121 |
c
|
SPS105 |
Spastic Paraplegia 37, Autosomal Dominant |
27 |
| 122 |
|
ART127 |
Arthrogryposis Multiplex Congenita, Neurogenic Type |
27 |
| 123 |
c
|
SPS227 |
Spastic Paraplegia 62, Autosomal Recessive |
27 |
| 124 |
c
|
HRD186 |
Hereditary Spastic Paraplegia 51 |
27 |
| 125 |
c
|
SPS228 |
Spastic Paraplegia 63, Autosomal Recessive |
26 |
| 126 |
c
|
SPS021 |
Spastic Paraplegia 10 |
26 |
| 127 |
c
|
SPS156 |
Spastic Paraplegia 74, Autosomal Recessive |
26 |
| 128 |
c
|
SPS203 |
Spastic Paraplegia 78, Autosomal Recessive |
26 |
| 129 |
c
|
SPS157 |
Spastic Paraplegia 64, Autosomal Recessive |
26 |
| 130 |
c
|
SPS100 |
Spastic Paraplegia 38, Autosomal Dominant |
26 |
| 131 |
c
|
SPS094 |
Spastic Paraplegia 29, Autosomal Dominant |
26 |
| 132 |
c
|
SPS138 |
Spastic Paraplegia 72, Autosomal Recessive |
25 |
| 133 |
c
|
SPS110 |
Spastic Paraplegia 19, Autosomal Dominant |
25 |
| 134 |
c
|
SPS213 |
Spastic Paraplegia 75, Autosomal Recessive |
25 |
| 135 |
c
|
SPS039 |
Spastic Paraplegia 5a |
25 |
| 136 |
c
|
SPS104 |
Spastic Paraplegia 53, Autosomal Recessive |
25 |
| 137 |
c
|
SPS036 |
Spastic Paraplegia 3 |
23 |
| 138 |
c
|
SPS025 |
Spastic Paraplegia 15 |
23 |
| 139 |
c
|
SPS111 |
Spastic Paraplegia 27, Autosomal Recessive |
23 |
| 140 |
c
|
SPS206 |
Spastic Paraplegia 77, Autosomal Recessive |
22 |
| 141 |
c
|
SPS091 |
Spastic Paraplegia 4 |
21 |
| 142 |
c
|
SPS013 |
Spastic Paraplegia 8 |
20 |
| 143 |
c
|
HRD188 |
Hereditary Spastic Paraplegia 72 |
19 |
| 144 |
c
|
SPS037 |
Spastic Paraplegia 31 |
19 |
| 145 |
c
|
SPS034 |
Spastic Paraplegia 26 |
18 |
| 146 |
c
|
SPS027 |
Spastic Paraplegia 17 |
18 |
| 147 |
c
|
SPS028 |
Spastic Paraplegia 18 |
17 |
| 148 |
c
|
SPS041 |
Spastic Paraplegia 6 |
17 |
| 149 |
c
|
SPS023 |
Spastic Paraplegia 13 |
17 |
| 150 |
c
|
SPS080 |
Spastic Paraplegia 51 |
16 |
| 151 |
c
|
SPS032 |
Spastic Paraplegia 24 |
15 |
| 152 |
c
|
SPS033 |
Spastic Paraplegia 25 |
15 |
| 153 |
c
|
SPS035 |
Spastic Paraplegia 29 |
15 |
| 154 |
c
|
SPS022 |
Spastic Paraplegia 12 |
15 |
| 155 |
c
|
SPS026 |
Spastic Paraplegia 16 |
14 |
| 156 |
c
|
SPS161 |
Spastic Paraplegia 32 |
14 |
| 157 |
c
|
SPS029 |
Spastic Paraplegia 19 |
14 |
| 158 |
c
|
SPS024 |
Spastic Paraplegia 14 |
12 |
| 159 |
c
|
SPS040 |
Spastic Paraplegia 5b |
11 |
| 160 |
c
|
ATS184 |
Autosomal Recessive Spastic Paraplegia Type 60 |
11 |
| 161 |
c
|
ATS185 |
Autosomal Recessive Spastic Paraplegia Type 59 |
11 |
| 162 |
c
|
ATS186 |
Autosomal Recessive Spastic Paraplegia Type 68 |
11 |
| 163 |
c
|
ATS187 |
Autosomal Recessive Spastic Paraplegia Type 69 |
11 |
| 164 |
c
|
ATS188 |
Autosomal Recessive Spastic Paraplegia Type 70 |
11 |
| 165 |
c
|
ATS189 |
Autosomal Recessive Spastic Paraplegia Type 71 |
11 |
| 166 |
c
|
ATS190 |
Autosomal Recessive Spastic Paraplegia Type 66 |
11 |
| 167 |
c
|
ATS191 |
Autosomal Recessive Spastic Paraplegia Type 67 |
11 |
| 168 |
|
NRN004 |
Neuroendocrine Tumor |
58 |
| 169 |
|
ATX010 |
Ataxia Neuropathy Spectrum |
35 |
| 170 |
|
PRP019 |
Peripheral Nervous System Disease |
60 |
| 171 |
c
|
NRN040 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
26 |
| 172 |
|
NRP049 |
Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux |
20 |
| 173 |
c
|
SPN335 |
Spinocerebellar Ataxia Type 1 with Axonal Neuropathy |
16 |
| 174 |
|
NRV006 |
Nervous System Cancer |
60 |
| 175 |
P
|
NRF023 |
Neurofibromatosis, Type Ii |
68 |
| 176 |
P
|
CHR625 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1b |
47 |
| 177 |
|
ENC039 |
Encephalopathy, Familial, with Neuroserpin Inclusion Bodies |
42 |
| 178 |
c
|
PRM039 |
Primary Angiitis of the Central Nervous System |
26 |
| 179 |
|
SPL051 |
Split Spinal Cord Malformation |
19 |
| 180 |
|
PRT052 |
Partington X-Linked Mental Retardation Syndrome |
41 |
| 181 |
|
SNS008 |
Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis |
41 |
| 182 |
c
|
NRN037 |
Neuronopathy, Distal Hereditary Motor, Type Va |
28 |
| 183 |
|
CSY002 |
Coasy Protein-Associated Neurodegeneration |
17 |
| 184 |
c
|
CRD186 |
Ceroid Lipofuscinosis, Neuronal, 3 |
55 |
| 185 |
P
|
CRB185 |
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 |
49 |
| 186 |
P
|
HRD021 |
Hereditary Sensory Neuropathy |
48 |
| 187 |
|
MSS001 |
Masa Syndrome |
45 |
| 188 |
|
MLN073 |
Melanosis, Neurocutaneous |
38 |
| 189 |
|
MGR035 |
Migraine with Brainstem Aura |
19 |
| 190 |
c
|
AMY091 |
Amyotrophic Lateral Sclerosis 1 |
89 |
| 191 |
|
MCL009 |
Mcleod Syndrome |
45 |
| 192 |
c
|
AMY090 |
Amyotrophic Lateral Sclerosis 8 |
42 |
| 193 |
P
|
JVN050 |
Juvenile Amyotrophic Lateral Sclerosis |
41 |
| 194 |
c
|
CHR646 |
Charcot-Marie-Tooth Disease, Axonal, Type 2b |
39 |
| 195 |
c
|
AMY067 |
Amyotrophic Lateral Sclerosis 18 |
38 |
| 196 |
c
|
AMY058 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
38 |
| 197 |
c
|
AMY069 |
Amyotrophic Lateral Sclerosis 21 |
38 |
| 198 |
c
|
AMY085 |
Amyotrophic Lateral Sclerosis 9 |
33 |
| 199 |
c
|
AMY088 |
Amyotrophic Lateral Sclerosis 3 |
32 |
| 200 |
c
|
AMY059 |
Amyotrophic Lateral Sclerosis 19 |
32 |
| 201 |
c
|
AMY083 |
Amyotrophic Lateral Sclerosis 11 |
32 |
| 202 |
c
|
AMY057 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
31 |
| 203 |
c
|
AMY074 |
Amyotrophic Lateral Sclerosis Type 14 |
26 |
| 204 |
c
|
AMY063 |
Amyotrophic Lateral Sclerosis 20 |
26 |
| 205 |
c
|
AMY089 |
Amyotrophic Lateral Sclerosis 7 |
26 |
| 206 |
c
|
AMY094 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
24 |
| 207 |
c
|
AMY055 |
Amyotrophic Lateral Sclerosis 17 |
24 |
| 208 |
c
|
AMY023 |
Amyotrophic Lateral Sclerosis Type 6 |
23 |
| 209 |
c
|
AMY062 |
Amyotrophic Lateral Sclerosis 12 |
23 |
| 210 |
c
|
AMY022 |
Amyotrophic Lateral Sclerosis Type 5 |
22 |
| 211 |
c
|
AMY108 |
Amyotrophic Lateral Sclerosis 23 |
17 |
| 212 |
c
|
AMY079 |
Amyotrophic Lateral Sclerosis Type 15 |
15 |
| 213 |
c
|
AMY112 |
Amyotrophic Lateral Sclerosis 25 |
14 |
| 214 |
c
|
AMY110 |
Amyotrophic Lateral Sclerosis 24 |
11 |
| 215 |
c
|
AMY109 |
Amyotrophic Lateral Sclerosis Type 22 |
10 |
| 216 |
c
|
TRD001 |
Tardbp-Related Amyotrophic Lateral Sclerosis |
9 |
| 217 |
c
|
NRF024 |
Neurofibromatosis, Type I |
66 |
| 218 |
c
|
ADL066 |
Adult Neuronal Ceroid Lipofuscinosis |
46 |
| 219 |
c
|
HRD138 |
Hereditary Motor and Sensory Neuropathy V |
26 |
| 220 |
|
RBF002 |
Riboflavin Transporter Deficiency Neuronopathy |
14 |
| 221 |
|
MSC077 |
Muscle Eye Brain Disease |
50 |
| 222 |
|
CRB069 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome |
40 |
| 223 |
|
MHM001 |
Mehmo Syndrome |
28 |
| 224 |
|
PCK003 |
Pick Disease of Brain |
65 |
| 225 |
|
MLT075 |
Multifocal Motor Neuropathy |
49 |
| 226 |
c
|
CHR376 |
Charcot-Marie-Tooth Disease, Type 4d |
41 |
| 227 |
c
|
CHR420 |
Charcot-Marie-Tooth Disease, Type 4j |
38 |
| 228 |
c
|
NRD016 |
Neurodegeneration with Brain Iron Accumulation 6 |
36 |
| 229 |
c
|
FVL008 |
Foveal Hypoplasia 2 |
23 |
| 230 |
P
|
FVL006 |
Foveal Hypoplasia 1 |
23 |
| 231 |
|
CRN033 |
Cranial Nerve Malignant Neoplasm |
23 |
| 232 |
c
|
CHR025 |
Charcot-Marie-Tooth Disease Intermediate Type |
22 |
| 233 |
c
|
CHR549 |
Charcot-Marie-Tooth Disease Type 2l |
18 |
| 234 |
c
|
CHR147 |
Charcot-Marie-Tooth Disease Type 2k |
17 |
| 235 |
c
|
CHR143 |
Charcot-Marie-Tooth Disease Type 2g |
15 |
| 236 |
c
|
ATS272 |
Autosomal Dominant Intermediate Charcot-Marie-Tooth |
14 |
| 237 |
c
|
ATS165 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g |
13 |
| 238 |
c
|
ATS274 |
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease |
12 |
| 239 |
c
|
ATS092 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation |
10 |
| 240 |
c
|
ATS289 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation |
10 |
| 241 |
c
|
DNJ004 |
Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 |
10 |
| 242 |
c
|
ATS363 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation |
9 |
| 243 |
c
|
CHR572 |
Charcot-Marie-Tooth Disease Type 7 |
8 |
| 244 |
|
NRT001 |
Neurotic Disorder |
41 |
| 245 |
c
|
CHR647 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1c |
36 |
| 246 |
|
PRM175 |
Primary Familial Brain Calcification |
35 |
| 247 |
P
|
ADT009 |
Auditory Neuropathy Spectrum Disorder |
34 |
| 248 |
c
|
NRP040 |
Neuropathy, Hereditary Sensory and Autonomic, Type Ic |
27 |
| 249 |
c
|
NRN025 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
25 |
| 250 |
P
|
HYP553 |
Hyperphosphatasia with Mental Retardation Syndrome 3 |
21 |
| 251 |
P
|
PLZ001 |
Pelizaeus-Merzbacher Disease |
66 |
| 252 |
P
|
CHR071 |
Charcot-Marie-Tooth Disease |
65 |
| 253 |
c
|
MSC036 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 |
60 |
| 254 |
P
|
GRS003 |
Griscelli Syndrome |
56 |
| 255 |
c
|
MSC047 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 1 |
54 |
| 256 |
|
ATN002 |
Autonomic Nervous System Disease |
51 |
| 257 |
|
CRB151 |
Cerebral Creatine Deficiency Syndrome 1 |
50 |
| 258 |
c
|
GRS013 |
Griscelli Syndrome, Type 1 |
47 |
| 259 |
c
|
CHR640 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
44 |
| 260 |
P
|
OPT070 |
Optic Nerve Hypoplasia, Bilateral |
43 |
| 261 |
c
|
MSC108 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 |
37 |
| 262 |
c
|
MSC103 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 4 |
37 |
| 263 |
c
|
SPN366 |
Spinocerebellar Ataxia with Axonal Neuropathy Type 2 |
35 |
| 264 |
c
|
MSC093 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 |
32 |
| 265 |
c
|
MSC098 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 |
32 |
| 266 |
c
|
MSC111 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 7 |
31 |
| 267 |
c
|
MSC100 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 |
31 |
| 268 |
P
|
MSC002 |
Muscular Dystrophy-Dystroglycanopathy |
30 |
| 269 |
c
|
PLZ002 |
Pelizaeus-Merzbacher-Like Disease |
29 |
| 270 |
c
|
MNT143 |
Mental Retardation, Autosomal Dominant 13 |
26 |
| 271 |
c
|
MNT301 |
Mental Retardation, X-Linked 21 |
24 |
| 272 |
c
|
MSC118 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 12 |
22 |
| 273 |
|
SCP005 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
17 |
| 274 |
|
SPN186 |
Spinal Cord Injury |
68 |
| 275 |
|
TXC002 |
Toxic Encephalopathy |
55 |
| 276 |
|
CHR105 |
Choreoacanthocytosis |
46 |
| 277 |
|
SPR008 |
Supratentorial Primitive Neuroectodermal Tumor |
44 |
| 278 |
|
MTR007 |
Motor Peripheral Neuropathy |
40 |
| 279 |
|
PRP066 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease |
35 |
| 280 |
|
MNT046 |
Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia |
34 |
| 281 |
c
|
ADT007 |
Auditory Neuropathy, Autosomal Dominant, 1 |
28 |
| 282 |
|
LKN010 |
Leukoencephalopathy with Dystonia and Motor Neuropathy |
28 |
| 283 |
c
|
NRN024 |
Neuronopathy, Distal Hereditary Motor, Type Vb |
22 |
| 284 |
c
|
FRT006 |
Fourth Cranial Nerve Palsy, Familial Congenital |
18 |
| 285 |
P
|
GCH001 |
Gaucher's Disease |
62 |
| 286 |
P
|
NRN021 |
Neuronal Ceroid Lipofuscinosis |
61 |
| 287 |
|
PRP021 |
Peripheral Nervous System Neoplasm |
53 |
| 288 |
c
|
CHR627 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1a |
48 |
| 289 |
c
|
GCH017 |
Gaucher Disease, Type Iii |
47 |
| 290 |
P
|
MWT001 |
Mowat-Wilson Syndrome |
46 |
| 291 |
c
|
CRD179 |
Ceroid Lipofuscinosis, Neuronal, 7 |
39 |
| 292 |
|
CNG041 |
Congenital Cataracts, Facial Dysmorphism, and Neuropathy |
30 |
| 293 |
c
|
GCH013 |
Gaucher Disease, Type Iiic |
28 |
| 294 |
c
|
CHR660 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a |
28 |
| 295 |
|
MNT056 |
Mental Retardation, X-Linked, Syndromic, Nascimento Type |
25 |
| 296 |
|
NRP009 |
Neuropathy, Hereditary Motor and Sensory, Okinawa Type |
24 |
| 297 |
c
|
MNT258 |
Mental Retardation, X-Linked, Syndromic, Wu Type |
23 |
| 298 |
|
CRP034 |
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia |
23 |
| 299 |
c
|
NRN018 |
Neuronopathy, Distal Hereditary Motor, Type Iic |
21 |
| 300 |
c
|
NRN041 |
Neuronopathy, Distal Hereditary Motor, Type Iib |
21 |
| 301 |
c
|
NRN026 |
Neuronopathy, Distal Hereditary Motor, Type Iid |
20 |
| 302 |
c
|
NRN035 |
Neuronopathy, Distal Hereditary Motor, Type Iia |
19 |
| 303 |
|
CHR639 |
Chromosome Xp11.22 Duplication Syndrome |
14 |
| 304 |
c
|
PSD023 |
Pseudo-Gaucher Disease |
14 |
| 305 |
|
EPD081 |
Epidermoid Brain Cyst |
13 |
| 306 |
c
|
MWT002 |
Mowat-Wilson Syndrome Due to Monosomy 2q22 |
9 |
| 307 |
c
|
MWT004 |
Mowat-Wilson Syndrome Due to a Zeb2 Point Mutation |
7 |
| 308 |
P
|
CTS001 |
Cutis Laxa |
62 |
| 309 |
c
|
NMN013 |
Niemann-Pick Disease, Type a |
59 |
| 310 |
P
|
WRD001 |
Waardenburg's Syndrome |
58 |
| 311 |
P
|
CRB048 |
Cerebral Cavernous Malformations |
57 |
| 312 |
|
ERY029 |
Erythermalgia, Primary |
54 |
| 313 |
|
BRJ001 |
Borjeson-Forssman-Lehmann Syndrome |
54 |
| 314 |
|
SNS003 |
Sensory Peripheral Neuropathy |
53 |
| 315 |
c
|
WRD030 |
Waardenburg Syndrome, Type 1 |
51 |
| 316 |
c
|
WRD033 |
Waardenburg Syndrome, Type 2e |
51 |
| 317 |
c
|
WRD020 |
Waardenburg Syndrome, Type 4a |
45 |
| 318 |
|
WLS003 |
Wilson-Turner X-Linked Mental Retardation Syndrome |
44 |
| 319 |
|
NRF008 |
Neurofibromatosis-Noonan Syndrome |
43 |
| 320 |
|
LBS001 |
Lubs X-Linked Mental Retardation Syndrome |
41 |
| 321 |
c
|
WRD032 |
Waardenburg Syndrome, Type 2a |
39 |
| 322 |
c
|
NMN014 |
Niemann-Pick Disease, Type C2 |
38 |
| 323 |
c
|
ATS393 |
Autosomal Recessive Cutis Laxa Type I |
38 |
| 324 |
c
|
CTS045 |
Cutis Laxa, Autosomal Dominant 1 |
37 |
| 325 |
c
|
CTS029 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
37 |
| 326 |
|
HRD054 |
Hereditary Neuropathy with Liability to Pressure Palsy |
36 |
| 327 |
c
|
CTS030 |
Cutis Laxa, Autosomal Recessive, Type Ia |
36 |
| 328 |
c
|
WRD024 |
Waardenburg Syndrome, Type 4c |
35 |
| 329 |
c
|
WRD031 |
Waardenburg Syndrome, Type 3 |
34 |
| 330 |
c
|
CTS038 |
Cutis Laxa, Autosomal Recessive, Type Iia |
33 |
| 331 |
c
|
WRD010 |
Waardenburg Syndrome Type 4 |
32 |
| 332 |
c
|
CTS023 |
Cutis Laxa, Autosomal Recessive, Type Iib |
30 |
| 333 |
c
|
CRB051 |
Cerebral Cavernous Malformation, Familial |
29 |
| 334 |
c
|
WRD019 |
Waardenburg Syndrome, Type 4b |
29 |
| 335 |
c
|
ACQ027 |
Acquired Cutis Laxa |
29 |
| 336 |
|
SCP002 |
Scapuloperoneal Spinal Muscular Atrophy |
29 |
| 337 |
c
|
CTS033 |
Cutis Laxa, Autosomal Recessive, Type Ic |
29 |
| 338 |
c
|
CTS037 |
Cutis Laxa, Autosomal Recessive, Type Ib |
26 |
| 339 |
c
|
CTS044 |
Cutis Laxa, Autosomal Recessive, Type Iic |
26 |
| 340 |
c
|
CTS041 |
Cutis Laxa, Autosomal Dominant 3 |
25 |
| 341 |
c
|
CTS032 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
25 |
| 342 |
|
MNT229 |
Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance |
25 |
| 343 |
c
|
WRD029 |
Waardenburg Syndrome, Type 2b |
22 |
| 344 |
c
|
CTS043 |
Cutis Laxa, Autosomal Recessive, Type Iid |
22 |
| 345 |
c
|
WRD022 |
Waardenburg Syndrome, Type 2d |
21 |
| 346 |
|
FCL042 |
Facial Onset Sensory and Motor Neuronopathy |
21 |
| 347 |
c
|
ATP003 |
Atp6v0a2-Related Cutis Laxa |
21 |
| 348 |
c
|
CTS031 |
Cutis Laxa, Autosomal Dominant 2 |
21 |
| 349 |
c
|
WRD026 |
Waardenburg Syndrome, Type 2c |
17 |
| 350 |
c
|
EFM001 |
Efemp2-Related Cutis Laxa |
14 |
| 351 |
c
|
LTB003 |
Ltbp4-Related Cutis Laxa |
14 |
| 352 |
c
|
FBL003 |
Fbln5-Related Cutis Laxa |
8 |
| 353 |
|
MTR014 |
Motor Neuron Disease |
61 |
| 354 |
|
CNT019 |
Central Neurocytoma |
45 |
| 355 |
c
|
GNT049 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
37 |
| 356 |
c
|
CRD226 |
Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive |
36 |
| 357 |
|
WCK001 |
Wieacker-Wolff Syndrome |
32 |
| 358 |
c
|
DST027 |
Distal Hereditary Motor Neuropathy, Type Ii |
31 |
| 359 |
|
HSD004 |
Hsd10 Mitochondrial Disease |
30 |
| 360 |
c
|
NRP038 |
Neuropathy, Hereditary Sensory and Autonomic, Type Vi |
27 |
| 361 |
|
CNG102 |
Congenital Hypomyelination Neuropathy |
22 |
| 362 |
|
RTN207 |
Retinopathy, Pigmentary, and Mental Retardation |
19 |
| 363 |
|
ALP025 |
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality |
11 |
| 364 |
P
|
VSC017 |
Visceral Neuropathy Familial |
8 |
| 365 |
P
|
MDL005 |
Medulloblastoma |
75 |
| 366 |
|
NRV004 |
Nerve Compression Syndrome |
35 |
| 367 |
c
|
CHR626 |
Charcot-Marie-Tooth Disease, Axonal, Type 2a1 |
31 |
| 368 |
|
NRP010 |
Neuropathy, Hereditary Motor and Sensory, Russe Type |
29 |
| 369 |
c
|
MNT296 |
Mental Retardation, X-Linked, Syndromic 34 |
26 |
| 370 |
|
MTH079 |
Methylmalonic Acidemia and Homocysteinemia, Cblx Type |
22 |
| 371 |
c
|
MNT187 |
Mental Retardation, X-Linked 49 |
22 |
| 372 |
c
|
MNT305 |
Mental Retardation, X-Linked 12 |
20 |
| 373 |
|
ACC001 |
Accessory Nerve Disease |
14 |
| 374 |
|
HYP028 |
Hypoglossal Nerve Disease |
12 |
| 375 |
|
CRN305 |
Corneal Neuropathic Disease |
6 |
| 376 |
|
NRF007 |
Neurofibroma |
65 |
| 377 |
|
DBT010 |
Diabetic Neuropathy |
59 |
| 378 |
|
ANN002 |
Anencephaly |
56 |
| 379 |
|
LGS001 |
Legius Syndrome |
50 |
| 380 |
c
|
CHR350 |
Charcot-Marie-Tooth Disease, Axonal, Type 2k |
42 |
| 381 |
c
|
HYP441 |
Hyperphosphatasia with Mental Retardation Syndrome 1 |
30 |
| 382 |
|
MNT228 |
Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type |
27 |
| 383 |
|
PRM183 |
Primary Aldosteronism, Seizures, and Neurologic Abnormalities |
23 |
| 384 |
c
|
SPN355 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 |
21 |
| 385 |
|
ANG067 |
Angioma, Hereditary Neurocutaneous |
17 |
| 386 |
|
VGS001 |
Vagus Nerve Disease |
16 |
| 387 |
|
NRM005 |
Neuromuscular Disease |
60 |
| 388 |
P
|
BRN035 |
Brain Stem Glioma |
50 |
| 389 |
|
CRN031 |
Cranial Nerve Disease |
45 |
| 390 |
c
|
AMY045 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
34 |
| 391 |
c
|
CRD239 |
Ceroid Lipofuscinosis, Neuronal, 13 |
33 |
| 392 |
|
CRB139 |
Cerebellar Ataxia, Nonprogressive, with Mental Retardation |
25 |
| 393 |
|
HYP530 |
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity |
25 |
| 394 |
c
|
NRP044 |
Neuropathy, Hereditary Sensory and Autonomic, Type Viii |
24 |
| 395 |
c
|
NRP018 |
Neuropathy, Hereditary Sensory and Autonomic, Type Iib |
23 |
| 396 |
c
|
NRP039 |
Neuropathy, Hereditary Sensory, Type Id |
21 |
| 397 |
c
|
NRP036 |
Neuropathy, Hereditary Sensory, Type if |
21 |
| 398 |
|
PRT015 |
Partial Third-Nerve Palsy |
21 |
| 399 |
|
NRD034 |
Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant |
20 |
| 400 |
|
SYN062 |
Syncope, Familial Vasovagal |
20 |
| 401 |
|
SYN092 |
Syndromic X-Linked Intellectual Disability Cabezas Type |
20 |
| 402 |
|
SPN350 |
Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration |
20 |
| 403 |
c
|
NRP029 |
Neuropathy, Hereditary Sensory, Type Iic |
20 |
| 404 |
|
SPS197 |
Spastic Paraplegia with Neuropathy and Poikiloderma |
17 |
| 405 |
|
MCR046 |
Microcephaly Brain Defect Spasticity Hypernatremia |
13 |
| 406 |
|
ANR007 |
Anorexia Nervosa |
62 |
| 407 |
P
|
CFF008 |
Coffin-Siris Syndrome 1 |
58 |
| 408 |
|
CNT007 |
Central Nervous System Tuberculosis |
45 |
| 409 |
c
|
HRD088 |
Hereditary Neuropathies |
39 |
| 410 |
|
NRN016 |
Neuronal Migration Disorders |
38 |
| 411 |
|
AMY086 |
Amyotrophy, Hereditary Neuralgic |
35 |
| 412 |
|
BRN118 |
Brain Small Vessel Disease with or Without Ocular Anomalies |
35 |
| 413 |
|
WDH003 |
Woodhouse-Sakati Syndrome |
34 |
| 414 |
c
|
CHR352 |
Charcot-Marie-Tooth Disease, Axonal, Type 2f |
33 |
| 415 |
|
LJN003 |
Lujan-Fryns Syndrome |
32 |
| 416 |
|
JHN004 |
Johnson Neuroectodermal Syndrome |
30 |
| 417 |
|
MTC058 |
Mitochondrial Dna Depletion Syndrome 6 |
29 |
| 418 |
|
MNT310 |
Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type |
27 |
| 419 |
c
|
NRN027 |
Neuronopathy, Distal Hereditary Motor, Type I |
23 |
| 420 |
c
|
CFF011 |
Coffin-Siris Syndrome 6 |
22 |
| 421 |
c
|
CFF006 |
Coffin-Siris Syndrome 5 |
21 |
| 422 |
c
|
MNT196 |
Mental Retardation, X-Linked 92 |
20 |
| 423 |
|
DFN305 |
Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy |
20 |
| 424 |
|
RLN001 |
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked |
17 |
| 425 |
|
CRP001 |
Carpal Tunnel Syndrome |
66 |
| 426 |
P
|
CNG411 |
Congenital Disorder of Glycosylation, Type in |
62 |
| 427 |
|
ART141 |
Arteriovenous Malformations of the Brain |
56 |
| 428 |
c
|
CNG415 |
Congenital Disorder of Glycosylation, Type Ia |
52 |
| 429 |
c
|
CNG412 |
Congenital Disorder of Glycosylation, Type Ii |
46 |
| 430 |
c
|
CNG208 |
Congenital Disorder of Glycosylation, Type Iic |
42 |
| 431 |
c
|
CNG206 |
Congenital Disorder of Glycosylation, Type Ie |
39 |
| 432 |
|
TTH004 |
Tethered Spinal Cord Syndrome |
38 |
| 433 |
c
|
CNG189 |
Congenital Disorder of Glycosylation, Type Ib |
36 |
| 434 |
|
MLN001 |
Melanotic Neuroectodermal Tumor |
36 |
| 435 |
c
|
CNG197 |
Congenital Disorder of Glycosylation, Type Ih |
35 |
| 436 |
c
|
CNG379 |
Congenital Disorder of Glycosylation, Type It |
34 |
| 437 |
c
|
CNG195 |
Congenital Disorder of Glycosylation, Type Id |
33 |
| 438 |
c
|
CNG205 |
Congenital Disorder of Glycosylation, Type Ij |
30 |
| 439 |
c
|
CNG204 |
Congenital Disorder of Glycosylation, Type Iih |
30 |
| 440 |
c
|
CNG192 |
Congenital Disorder of Glycosylation, Type Ik |
30 |
| 441 |
c
|
CNG200 |
Congenital Disorder of Glycosylation, Type Iq |
30 |
| 442 |
c
|
CNG188 |
Congenital Disorder of Glycosylation, Type if |
30 |
| 443 |
c
|
CNG199 |
Congenital Disorder of Glycosylation, Type Im |
30 |
| 444 |
c
|
CNG403 |
Congenital Disorder of Glycosylation, Type Ix |
29 |
| 445 |
c
|
CHR650 |
Charcot-Marie-Tooth Disease, Axonal, Type 2b1 |
29 |
| 446 |
c
|
CNG196 |
Congenital Disorder of Glycosylation, Type Ic |
29 |
| 447 |
c
|
CNG416 |
Congenital Disorder of Glycosylation, Type Iy |
28 |
| 448 |
P
|
MNT319 |
Mental Retardation, Autosomal Dominant 20 |
28 |
| 449 |
c
|
CNG194 |
Congenital Disorder of Glycosylation, Type Ig |
28 |
| 450 |
c
|
CNG190 |
Congenital Disorder of Glycosylation, Type Iib |
28 |
| 451 |
c
|
CNG198 |
Congenital Disorder of Glycosylation, Type Il |
28 |
| 452 |
c
|
CHR651 |
Charcot-Marie-Tooth Disease, Axonal, Type 2b2 |
27 |
| 453 |
c
|
CNG389 |
Congenital Disorder of Glycosylation, Type Iim |
27 |
| 454 |
c
|
CNG187 |
Congenital Disorder of Glycosylation, Type Iid |
27 |
| 455 |
c
|
CNG497 |
Congenital Disorder of Glycosylation, Type Iio |
27 |
| 456 |
c
|
MSC101 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 |
27 |
| 457 |
c
|
MSC043 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 |
27 |
| 458 |
c
|
CNG383 |
Congenital Disorder of Glycosylation, Type Iik |
26 |
| 459 |
c
|
CNG201 |
Congenital Disorder of Glycosylation, Type Iij |
26 |
| 460 |
c
|
CNG209 |
Congenital Disorder of Glycosylation, Type Iif |
26 |
| 461 |
c
|
CNG207 |
Congenital Disorder of Glycosylation, Type Io |
26 |
| 462 |
c
|
CNG414 |
Congenital Disorder of Glycosylation, Type Iil |
26 |
| 463 |
c
|
MSC034 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 5 |
26 |
| 464 |
c
|
MSC041 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 |
25 |
| 465 |
c
|
CNG496 |
Congenital Disorder of Glycosylation, Type Iiq |
25 |
| 466 |
c
|
CNG378 |
Congenital Disorder of Glycosylation, Type Ir |
25 |
| 467 |
c
|
NRP043 |
Neuropathy, Hereditary Motor and Sensory, Type Vib |
25 |
| 468 |
c
|
CNG388 |
Congenital Disorder of Glycosylation, Type Iw |
25 |
| 469 |
c
|
CNG504 |
Congenital Disorder of Glycosylation, Type Iip |
25 |
| 470 |
c
|
CNG386 |
Congenital Disorder of Glycosylation, Type Iu |
24 |
| 471 |
c
|
CNG498 |
Congenital Disorder of Glycosylation, Type Iin |
24 |
| 472 |
c
|
CNG507 |
Congenital Disorder of Glycosylation, Type I/iix |
24 |
| 473 |
c
|
CNG193 |
Congenital Disorder of Glycosylation, Type Ip |
23 |
| 474 |
c
|
MSC166 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 8 |
23 |
| 475 |
c
|
MNT155 |
Mental Retardation, Autosomal Recessive 2 |
23 |
| 476 |
c
|
CNG185 |
Congenital Disorder of Glycosylation, Type Iig |
23 |
| 477 |
c
|
CNG203 |
Congenital Disorder of Glycosylation, Type Iii |
22 |
| 478 |
|
OLF001 |
Olfactory Nerve Disease |
18 |
| 479 |
|
SLW005 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
18 |
| 480 |
c
|
MNT200 |
Mental Retardation, X-Linked 97 |
17 |
| 481 |
|
TRC015 |
Trochlear Nerve Disease |
14 |
| 482 |
P
|
NRV007 |
Nervous System Disease |
73 |
| 483 |
c
|
EPL184 |
Epileptic Encephalopathy, Early Infantile, 6 |
67 |
| 484 |
|
BLM002 |
Bulimia Nervosa |
58 |
| 485 |
P
|
INF016 |
Infantile Epileptic Encephalopathy |
54 |
| 486 |
c
|
EPL099 |
Epileptic Encephalopathy, Early Infantile, 15 |
52 |
| 487 |
c
|
EPL169 |
Epileptic Encephalopathy, Early Infantile, 36 |
48 |
| 488 |
|
OLF005 |
Olfactory Neuroblastoma |
47 |
| 489 |
c
|
GCH016 |
Gaucher Disease, Type Ii |
44 |
| 490 |
|
NRN005 |
Neuronal Ceroid-Lipofuscinoses |
44 |
| 491 |
c
|
EPL029 |
Epileptic Encephalopathy, Early Infantile, 9 |
40 |
| 492 |
c
|
HRD094 |
Hereditary Motor and Sensory Neuropathy, Type Iic |
39 |
| 493 |
|
OPT008 |
Optic Nerve Neoplasm |
38 |
| 494 |
c
|
EPL037 |
Epileptic Encephalopathy, Early Infantile, 1 |
37 |
| 495 |
|
AMY005 |
Amyloid Neuropathy |
36 |
| 496 |
P
|
CNT037 |
Central Nervous System Germinoma |
36 |
| 497 |
|
SYN089 |
Syndromic X-Linked Intellectual Disability Snyder Type |
35 |
| 498 |
c
|
EPL068 |
Epileptic Encephalopathy, Early Infantile, 7 |
35 |
| 499 |
|
GLL028 |
Gillespie Syndrome |
33 |
| 500 |
c
|
CHR542 |
Charcot-Marie-Tooth Disease, Axonal, Type 2t |
32 |
| 501 |
c
|
EPL027 |
Epileptic Encephalopathy, Early Infantile, 4 |
32 |
| 502 |
|
CRB024 |
Cerebral Neuroblastoma |
31 |
| 503 |
c
|
EPL026 |
Epileptic Encephalopathy, Early Infantile, 3 |
30 |
| 504 |
|
MNT302 |
Mental Retardation, X-Linked, Syndromic, Christianson Type |
29 |
| 505 |
|
PRM284 |
Primitive Neuroectodermal Tumor of the Cervix Uteri |
27 |
| 506 |
c
|
EPL025 |
Epileptic Encephalopathy, Early Infantile, 2 |
27 |
| 507 |
c
|
EPL117 |
Epileptic Encephalopathy, Early Infantile, 16 |
26 |
| 508 |
|
THR010 |
Third Cranial Nerve Disease |
26 |
| 509 |
c
|
EPL097 |
Epileptic Encephalopathy, Early Infantile, 14 |
26 |
| 510 |
c
|
EPL183 |
Epileptic Encephalopathy, Early Infantile, 50 |
25 |
| 511 |
c
|
MSC167 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 11 |
25 |
| 512 |
c
|
EPL181 |
Epileptic Encephalopathy, Early Infantile, 44 |
24 |
| 513 |
c
|
EPL123 |
Epileptic Encephalopathy, Early Infantile, 23 |
24 |
| 514 |
|
RCT005 |
Rectum Neuroendocrine Neoplasm |
24 |
| 515 |
c
|
EPL193 |
Epileptic Encephalopathy, Early Infantile, 35 |
23 |
| 516 |
c
|
EPL024 |
Epileptic Encephalopathy, Early Infantile, 12 |
23 |
| 517 |
c
|
EPL178 |
Epileptic Encephalopathy, Early Infantile, 51 |
23 |
| 518 |
c
|
EPL028 |
Epileptic Encephalopathy, Early Infantile, 5 |
23 |
| 519 |
c
|
EPL195 |
Epileptic Encephalopathy, Early Infantile, 53 |
23 |
| 520 |
c
|
EPL191 |
Epileptic Encephalopathy, Early Infantile, 48 |
22 |
| 521 |
c
|
EPL135 |
Epileptic Encephalopathy, Early Infantile, 27 |
22 |
| 522 |
c
|
EPL151 |
Epileptic Encephalopathy, Early Infantile, 31 |
22 |
| 523 |
|
NRG006 |
Neurogenic Thoracic Outlet Syndrome |
22 |
| 524 |
c
|
EPL102 |
Epileptic Encephalopathy, Early Infantile, 18 |
22 |
| 525 |
c
|
EPL038 |
Epileptic Encephalopathy, Early Infantile, 8 |
22 |
| 526 |
c
|
EPL189 |
Epileptic Encephalopathy, Early Infantile, 37 |
22 |
| 527 |
c
|
EPL194 |
Epileptic Encephalopathy, Early Infantile, 55 |
22 |
| 528 |
c
|
EPL153 |
Epileptic Encephalopathy, Early Infantile, 29 |
21 |
| 529 |
c
|
EPL182 |
Epileptic Encephalopathy, Early Infantile, 54 |
21 |
| 530 |
c
|
EPL139 |
Epileptic Encephalopathy, Early Infantile, 28 |
21 |
| 531 |
c
|
EPL127 |
Epileptic Encephalopathy, Early Infantile, 21 |
21 |
| 532 |
c
|
EPL172 |
Epileptic Encephalopathy, Early Infantile, 42 |
21 |
| 533 |
c
|
EPL129 |
Epileptic Encephalopathy, Early Infantile, 25 |
21 |
| 534 |
c
|
EPL082 |
Epileptic Encephalopathy, Early Infantile, 13 |
21 |
| 535 |
c
|
EPL159 |
Epileptic Encephalopathy, Early Infantile, 34 |
20 |
| 536 |
c
|
EPL179 |
Epileptic Encephalopathy, Early Infantile, 52 |
20 |
| 537 |
c
|
EPL180 |
Epileptic Encephalopathy, Early Infantile, 41 |
20 |
| 538 |
c
|
EPL157 |
Epileptic Encephalopathy, Early Infantile, 30 |
20 |
| 539 |
c
|
EPL126 |
Epileptic Encephalopathy, Early Infantile, 19 |
20 |
| 540 |
c
|
EPL023 |
Epileptic Encephalopathy, Early Infantile, 11 |
20 |
| 541 |
c
|
EPL130 |
Epileptic Encephalopathy, Early Infantile, 26 |
20 |
| 542 |
c
|
EPL173 |
Epileptic Encephalopathy, Early Infantile, 47 |
20 |
| 543 |
c
|
EPL175 |
Epileptic Encephalopathy, Early Infantile, 43 |
20 |
| 544 |
c
|
EPL177 |
Epileptic Encephalopathy, Early Infantile, 40 |
20 |
| 545 |
c
|
EPL119 |
Epileptic Encephalopathy, Early Infantile, 17 |
20 |
| 546 |
c
|
EPL156 |
Epileptic Encephalopathy, Early Infantile, 33 |
20 |
| 547 |
c
|
EPL176 |
Epileptic Encephalopathy, Early Infantile, 46 |
20 |
| 548 |
c
|
EPL146 |
Epileptic Encephalopathy, Early Infantile, 32 |
20 |
| 549 |
c
|
EPL125 |
Epileptic Encephalopathy, Early Infantile, 24 |
19 |
| 550 |
c
|
EPL190 |
Epileptic Encephalopathy, Early Infantile, 49 |
19 |
| 551 |
c
|
EPL174 |
Epileptic Encephalopathy, Early Infantile, 45 |
19 |
| 552 |
c
|
EPL171 |
Epileptic Encephalopathy, Early Infantile, 38 |
18 |
| 553 |
c
|
EPL215 |
Epileptic Encephalopathy, Early Infantile, 58 |
17 |
| 554 |
c
|
EPL223 |
Epileptic Encephalopathy, Early Infantile, 64 |
17 |
| 555 |
c
|
EPL213 |
Epileptic Encephalopathy, Early Infantile, 57 |
16 |
| 556 |
c
|
EPL211 |
Epileptic Encephalopathy, Early Infantile, 56 |
16 |
| 557 |
c
|
EPL224 |
Epileptic Encephalopathy, Early Infantile, 65 |
16 |
| 558 |
c
|
EPL219 |
Epileptic Encephalopathy, Early Infantile, 61 |
16 |
| 559 |
c
|
EPL221 |
Epileptic Encephalopathy, Early Infantile, 62 |
15 |
| 560 |
c
|
EPL216 |
Epileptic Encephalopathy, Early Infantile, 59 |
15 |
| 561 |
c
|
EPL222 |
Epileptic Encephalopathy, Early Infantile, 63 |
15 |
| 562 |
c
|
EPL218 |
Epileptic Encephalopathy, Early Infantile, 60 |
14 |
| 563 |
|
SPN045 |
Spinal Cord Primitive Neuroectodermal Neoplasm |
10 |
| 564 |
c
|
INF166 |
Infantile Epileptic Encephalopathy 55 |
9 |
| 565 |
c
|
INF169 |
Infantile Epileptic Encephalopathy 59 |
9 |
| 566 |
|
LWG004 |
Low-Grade Neuroendocrine Tumor of the Corpus Uteri |
8 |
| 567 |
c
|
INF165 |
Infantile Epileptic Encephalopathy 56 |
8 |
| 568 |
c
|
INF167 |
Infantile Epileptic Encephalopathy 57 |
8 |
| 569 |
c
|
INF168 |
Infantile Epileptic Encephalopathy 58 |
8 |
| 570 |
|
LPS008 |
Lupus - Neurological Sequelae |
5 |
| 571 |
|
PNF001 |
Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus Syndrome |
5 |
| 572 |
P
|
INT030 |
Intracranial Aneurysm |
57 |
| 573 |
|
CYS005 |
Cysticercosis |
56 |
| 574 |
|
TRM010 |
Traumatic Brain Injury |
55 |
| 575 |
|
MTC061 |
Mitochondrial Dna Depletion Syndrome 1 |
44 |
| 576 |
|
NRL004 |
Neuroleptic Malignant Syndrome |
44 |
| 577 |
|
NRF003 |
Neurofibrosarcoma |
44 |
| 578 |
|
CNV002 |
Conversion Disorder |
42 |
| 579 |
c
|
CHR353 |
Charcot-Marie-Tooth Disease, Axonal, Type 2l |
36 |
| 580 |
|
ALP041 |
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome |
36 |
| 581 |
c
|
CHR653 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1d |
36 |
| 582 |
|
CRT081 |
Cortical Dysplasia, Complex, with Other Brain Malformations 7 |
35 |
| 583 |
c
|
CHR649 |
Charcot-Marie-Tooth Disease, Axonal, Type 2d |
34 |
| 584 |
c
|
CHR656 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1f |
33 |
| 585 |
c
|
SPS158 |
Spastic Paraplegia 9a, Autosomal Dominant |
32 |
| 586 |
c
|
TRC101 |
Trichothiodystrophy 4, Nonphotosensitive |
29 |
| 587 |
P
|
DST101 |
Distal Hereditary Motor Neuropathies |
28 |
| 588 |
|
VST006 |
Vestibulocochlear Nerve Disease |
28 |
| 589 |
c
|
SPS205 |
Spastic Paraplegia 79, Autosomal Recessive |
28 |
| 590 |
|
3MT022 |
3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia |
27 |
| 591 |
|
NRS005 |
Neurosarcoidosis |
25 |
| 592 |
|
WSM002 |
Waisman Syndrome |
24 |
| 593 |
|
MNT307 |
Mental Retardation, X-Linked, Associated with Fragile Site Fraxe |
24 |
| 594 |
c
|
TRC103 |
Trichothiodystrophy 5, Nonphotosensitive |
22 |
| 595 |
c
|
TRC117 |
Trichothiodystrophy 6, Nonphotosensitive |
20 |
| 596 |
c
|
NRB015 |
Neuroblastoma 2 |
20 |
| 597 |
c
|
CRB195 |
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 |
19 |
| 598 |
|
CMP082 |
Complex Cortical Dysplasia with Other Brain Malformations |
16 |
| 599 |
c
|
NRN042 |
Neuronopathy, Distal Hereditary Motor, Type Ix |
13 |
| 600 |
|
LYM055 |
Lyme Disease - Neurological Complications |
6 |
| 601 |
c
|
INT097 |
Intracranial Aneurysms Multiple Congenital Anomaly |
3 |
| 602 |
P
|
HNT016 |
Huntington Disease |
70 |
| 603 |
c
|
CNT035 |
Central Nervous System Disease |
63 |
| 604 |
|
NRS003 |
Neurosyphilis |
45 |
| 605 |
|
EPL118 |
Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation |
44 |
| 606 |
c
|
HNT004 |
Huntington Disease-Like 2 |
39 |
| 607 |
c
|
CHR517 |
Charcot-Marie-Tooth Disease, Type 4a |
38 |
| 608 |
P
|
GST047 |
Gastrointestinal Neuroendocrine Tumor |
32 |
| 609 |
c
|
JVN015 |
Juvenile Huntington Disease |
29 |
| 610 |
|
46X053 |
46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy |
29 |
| 611 |
P
|
FRT001 |
Fourth Cranial Nerve Palsy |
28 |
| 612 |
c
|
MSC045 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 3 |
28 |
| 613 |
c
|
HNT010 |
Huntington Disease-Like 1 |
27 |
| 614 |
|
SPN043 |
Spinal Cord Glioma |
27 |
| 615 |
c
|
NRP055 |
Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive |
26 |
| 616 |
|
ABC001 |
Abcd Syndrome |
26 |
| 617 |
|
STM015 |
Stomatin-Deficient Cryohydrocytosis with Neurologic Defects |
26 |
| 618 |
c
|
MSC105 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 |
25 |
| 619 |
c
|
MNT210 |
Mental Retardation, Autosomal Recessive 42 |
25 |
| 620 |
c
|
MSC127 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 9 |
25 |
| 621 |
|
CRT070 |
Cortical Dysplasia, Complex, with Other Brain Malformations 1 |
24 |
| 622 |
|
ALP091 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
23 |
| 623 |
|
NRL023 |
Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset |
23 |
| 624 |
c
|
CHR480 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
23 |
| 625 |
c
|
MSC107 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 10 |
23 |
| 626 |
|
PRN033 |
Paraneoplastic Neurologic Disorders |
22 |
| 627 |
|
CNG382 |
Congenital Cataracts, Hearing Loss, and Neurodegeneration |
22 |
| 628 |
|
PRP075 |
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss |
22 |
| 629 |
|
NRD024 |
Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart |
22 |
| 630 |
|
HMR018 |
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts |
22 |
| 631 |
|
NRD031 |
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination |
21 |
| 632 |
|
STC002 |
Stocco Dos Santos X-Linked Mental Retardation Syndrome |
21 |
| 633 |
c
|
GNT040 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
21 |
| 634 |
|
MCR123 |
Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy |
20 |
| 635 |
|
MNT300 |
Mental Retardation, X-Linked, with Panhypopituitarism |
19 |
| 636 |
|
SPN026 |
Spinal Cord Lymphoma |
18 |
| 637 |
c
|
HNT013 |
Huntington Disease-Like Syndrome |
15 |
| 638 |
|
MCR286 |
Microcephaly-Intellectual Disability-Phalangeal and Neurological Anomalies Syndrome |
12 |
| 639 |
|
CYP001 |
Cyprus Facial Neuromusculoskeletal Syndrome |
12 |
| 640 |
c
|
HNT014 |
Huntington Disease-Like Syndrome Due to C9orf72 Expansions |
9 |
| 641 |
|
CRV044 |
Cervical Hypertrichosis Peripheral Neuropathy |
5 |
| 642 |
|
CL4005 |
Col4a1-Related Brain Small-Vessel Disease |
4 |
| 643 |
|
ATY005 |
Atypical Teratoid Rhabdoid Tumor |
62 |
| 644 |
P
|
LTR001 |
Lateral Sclerosis |
58 |
| 645 |
P
|
ACR001 |
Aicardi-Goutieres Syndrome |
56 |
| 646 |
|
SPN041 |
Spinal Cord Disease |
51 |
| 647 |
P
|
ATS366 |
Autism X-Linked 2 |
43 |
| 648 |
c
|
ACR116 |
Aicardi-Goutieres Syndrome 1 |
43 |
| 649 |
|
SPR066 |
Superficial Siderosis |
40 |
| 650 |
P
|
CRN035 |
Cranial Nerve Palsy |
40 |
| 651 |
c
|
CRD166 |
Ceroid Lipofuscinosis, Neuronal, 11 |
39 |
| 652 |
c
|
BRT038 |
Baraitser-Winter Syndrome 1 |
36 |
| 653 |
|
BRN005 |
Brain Glioblastoma Multiforme |
35 |
| 654 |
c
|
CHR422 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
34 |
| 655 |
c
|
ACR088 |
Aicardi-Goutieres Syndrome 3 |
34 |
| 656 |
|
TRS001 |
Tarsal Tunnel Syndrome |
33 |
| 657 |
c
|
ACR092 |
Aicardi-Goutieres Syndrome 5 |
32 |
| 658 |
c
|
ACR091 |
Aicardi-Goutieres Syndrome 4 |
32 |
| 659 |
P
|
SPN410 |
Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy |
31 |
| 660 |
c
|
ACR090 |
Aicardi-Goutieres Syndrome 2 |
30 |
| 661 |
c
|
PRM195 |
Primary Lateral Sclerosis, Juvenile |
30 |
| 662 |
|
ATS251 |
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna |
29 |
| 663 |
|
NRG003 |
Neurogenic Arthropathy |
29 |
| 664 |
c
|
BRT039 |
Baraitser-Winter Syndrome 2 |
29 |
| 665 |
c
|
ACR081 |
Aicardi-Goutieres Syndrome 6 |
28 |
| 666 |
|
BRN049 |
Brain Tumor, Childhood |
28 |
| 667 |
|
HLS003 |
Helsmoortel-Van Der Aa Syndrome |
27 |
| 668 |
c
|
PRM092 |
Primary Lateral Sclerosis, Adult, 1 |
27 |
| 669 |
|
OCL003 |
Oculomotor Nerve Paralysis |
27 |
| 670 |
c
|
ACR084 |
Aicardi-Goutieres Syndrome 7 |
26 |
| 671 |
c
|
CHR609 |
Charcot-Marie-Tooth Disease, Type 4k |
26 |
| 672 |
c
|
MSC102 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 |
25 |
| 673 |
c
|
CFF010 |
Coffin-Siris Syndrome 3 |
25 |
| 674 |
c
|
MNT295 |
Mental Retardation, X-Linked, Syndromic 33 |
25 |
| 675 |
c
|
MNT270 |
Mental Retardation, Autosomal Recessive 53 |
25 |
| 676 |
|
EPL206 |
Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions |
24 |
| 677 |
c
|
MNT262 |
Mental Retardation, Autosomal Dominant 42 |
23 |
| 678 |
|
MNT237 |
Mental Retardation with Language Impairment and with or Without Autistic Features |
22 |
| 679 |
|
CHL057 |
Childhood Brain Stem Glioma |
22 |
| 680 |
c
|
CRB136 |
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 |
22 |
| 681 |
|
CRT071 |
Cortical Dysplasia, Complex, with Other Brain Malformations 4 |
21 |
| 682 |
|
ARM006 |
Armfield X-Linked Mental Retardation Syndrome |
21 |
| 683 |
c
|
ATS268 |
Autism X-Linked 4 |
21 |
| 684 |
|
CRT067 |
Cortical Dysplasia, Complex, with Other Brain Malformations 2 |
20 |
| 685 |
c
|
ATS367 |
Autism X-Linked 3 |
20 |
| 686 |
|
CRT073 |
Cortical Dysplasia, Complex, with Other Brain Malformations 5 |
20 |
| 687 |
c
|
ATS365 |
Autism X-Linked 1 |
20 |
| 688 |
|
CRT068 |
Cortical Dysplasia, Complex, with Other Brain Malformations 3 |
20 |
| 689 |
|
CRT074 |
Cortical Dysplasia, Complex, with Other Brain Malformations 6 |
20 |
| 690 |
|
NRF025 |
Neurofibromatosis, Type Iii, Mixed Central and Peripheral |
19 |
| 691 |
c
|
ATS358 |
Autism X-Linked 6 |
19 |
| 692 |
|
NRD028 |
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies |
18 |
| 693 |
|
PRN063 |
Peroneal Nerve, Accessory Deep |
16 |
| 694 |
|
CTR173 |
Cataract, Ataxia, Short Stature, and Mental Retardation |
16 |
| 695 |
|
DFF020 |
Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia |
15 |
| 696 |
|
RDL001 |
Radial Nerve Lesion |
14 |
| 697 |
c
|
ATS177 |
Autism X-Linked 5 |
13 |
| 698 |
|
XLN174 |
X-Linked Non-Syndromic Sensorineural Deafness Type Dfn |
12 |
| 699 |
|
NRV002 |
Nerve Fibre Bundle Defect |
11 |
| 700 |
|
LNG002 |
Lung Combined Large Cell Neuroendocrine Carcinoma |
11 |
| 701 |
|
TTL002 |
Total Third-Nerve Palsy |
10 |
| 702 |
|
HGH030 |
High-Grade Neuroendocrine Carcinoma of the Cervix Uteri |
10 |
| 703 |
|
SYN083 |
Syndromic X-Linked Intellectual Disability Shashi Type |
9 |
| 704 |
|
DNM002 |
Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy |
9 |
| 705 |
|
MLG073 |
Malignant Melanocytic Neoplasm of the Peripheral Nerve Sheath |
9 |
| 706 |
|
MLG028 |
Malignant Neoplasm of Acoustic Nerve |
8 |
| 707 |
|
HGH029 |
High-Grade Neuroendocrine Carcinoma of the Corpus Uteri |
8 |
| 708 |
c
|
OPT030 |
Optic Nerve Hypoplasia, Familial Bilateral |
7 |
| 709 |
|
SPN022 |
Spinal Cord Neuroblastoma |
7 |
| 710 |
|
CHL022 |
Childhood Central Nervous System Primitive Neuroectodermal Neoplasm |
6 |
| 711 |
c
|
ADL022 |
Adult Central Nervous System Primitive Neuroectodermal Neoplasm |
6 |
| 712 |
|
ART040 |
Arthrogryposis Epileptic Seizures Migrational Brain Disorder |
5 |
| 713 |
|
MBS003 |
Moebius Axonal Neuropathy Hypogonadism |
4 |
| 714 |
|
TMR014 |
Tumor of Cranial and Spinal Nerves |
3 |
| 715 |
|
LYM017 |
Lyme Disease |
68 |
| 716 |
|
FMR003 |
Femoral Neuropathy |
39 |
| 717 |
|
GLT018 |
Glut1 Deficiency Syndrome 1 |
37 |
| 718 |
|
ASY002 |
Asymptomatic Neurosyphilis |
37 |
| 719 |
c
|
SPS151 |
Spastic Paraplegia 11, Autosomal Recessive |
36 |
| 720 |
c
|
SPS129 |
Spastic Paraplegia 39, Autosomal Recessive |
33 |
| 721 |
|
TBS001 |
Tabes Dorsalis |
33 |
| 722 |
|
MNT192 |
Mental Retardation, X-Linked, Syndromic, Hedera Type |
31 |
| 723 |
|
TRT002 |
Tertiary Neurosyphilis |
29 |
| 724 |
c
|
CHR657 |
Charcot-Marie-Tooth Disease, Axonal, Type 2j |
29 |
| 725 |
c
|
CHR371 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
29 |
| 726 |
c
|
CHR489 |
Charcot-Marie-Tooth Disease, Axonal, Type 2q |
28 |
| 727 |
c
|
CRD181 |
Ceroid Lipofuscinosis, Neuronal, 8 |
28 |
| 728 |
c
|
CHR671 |
Charcot-Marie-Tooth Disease, Axonal, Type 2r |
27 |
| 729 |
c
|
CHR652 |
Charcot-Marie-Tooth Disease, Axonal, Type 2i |
27 |
| 730 |
c
|
CHR514 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
26 |
| 731 |
c
|
MNT157 |
Mental Retardation, Autosomal Dominant 18 |
25 |
| 732 |
|
SCH074 |
Schuurs-Hoeijmakers Syndrome |
24 |
| 733 |
c
|
MSC097 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 14 |
24 |
| 734 |
|
WHT019 |
White-Sutton Syndrome |
24 |
| 735 |
c
|
CHR505 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
24 |
| 736 |
|
CRT082 |
Cortical Dysplasia, Complex, with Other Brain Malformations 8 |
23 |
| 737 |
|
KHR001 |
Kahrizi Syndrome |
22 |
| 738 |
c
|
CHR666 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
21 |
| 739 |
|
PRT097 |
Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome |
20 |
| 740 |
P
|
CHR481 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
20 |
| 741 |
c
|
CRB141 |
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 |
19 |
| 742 |
P
|
GLY106 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
18 |
| 743 |
c
|
GLY103 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
18 |
| 744 |
c
|
NRB014 |
Neuroblastoma 3 |
18 |
| 745 |
c
|
CHR676 |
Charcot-Marie-Tooth Disease, Dominant Intermediate G |
16 |
| 746 |
|
LCL011 |
Localized Hypertrophic Neuropathy |
15 |
| 747 |
P
|
NMN002 |
Niemann-Pick Disease |
60 |
| 748 |
|
BRN071 |
Brain Injury |
53 |
| 749 |
P
|
TRC102 |
Trichothiodystrophy 1, Photosensitive |
51 |
| 750 |
|
NRN008 |
Neuronal Intranuclear Inclusion Disease |
44 |
| 751 |
P
|
SPN042 |
Spinal Cord Ependymoma |
40 |
| 752 |
c
|
CRD216 |
Ceroid Lipofuscinosis, Neuronal, 9 |
36 |
| 753 |
|
MLG041 |
Malignant Triton Tumor |
35 |
| 754 |
|
BRK009 |
Birk-Barel Mental Retardation Dysmorphism Syndrome |
33 |
| 755 |
|
SPN185 |
Spinal Cord Infarction |
32 |
| 756 |
|
TMT003 |
Temtamy Syndrome |
31 |
| 757 |
c
|
MNT185 |
Mental Retardation, Autosomal Dominant 7 |
28 |
| 758 |
|
MDR004 |
Madras Motor Neuron Disease |
28 |
| 759 |
c
|
MNT212 |
Mental Retardation, Autosomal Dominant 26 |
27 |
| 760 |
c
|
MNT322 |
Mental Retardation, Autosomal Dominant 27 |
25 |
| 761 |
c
|
CFF009 |
Coffin-Siris Syndrome 4 |
24 |
| 762 |
c
|
MNT241 |
Mental Retardation, Autosomal Dominant 32 |
24 |
| 763 |
c
|
MNT222 |
Mental Retardation, Autosomal Dominant 29 |
24 |
| 764 |
c
|
CFF007 |
Coffin-Siris Syndrome 2 |
24 |
| 765 |
c
|
MNT214 |
Mental Retardation, Autosomal Dominant 24 |
24 |
| 766 |
|
ENC047 |
Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum |
24 |
| 767 |
P
|
MNT298 |
Mental Retardation, X-Linked, Syndromic, 35 |
24 |
| 768 |
c
|
MNT246 |
Mental Retardation, Autosomal Dominant 38 |
24 |
| 769 |
c
|
MNT150 |
Mental Retardation, Autosomal Recessive 15 |
23 |
| 770 |
c
|
MNT239 |
Mental Retardation, Autosomal Dominant 35 |
23 |
| 771 |
c
|
MNT219 |
Mental Retardation, Autosomal Dominant 30 |
23 |
| 772 |
|
ART137 |
Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect |
23 |
| 773 |
c
|
MNT226 |
Mental Retardation, Autosomal Dominant 31 |
23 |
| 774 |
c
|
CHR658 |
Charcot-Marie-Tooth Disease, Recessive Intermediate a |
23 |
| 775 |
c
|
MNT321 |
Mental Retardation, Autosomal Recessive 37 |
23 |
| 776 |
|
CLN039 |
Cln4 Disease |
22 |
| 777 |
c
|
MNT238 |
Mental Retardation, Autosomal Dominant 34 |
22 |
| 778 |
c
|
MNT159 |
Mental Retardation, Autosomal Dominant 19 |
22 |
| 779 |
c
|
MNT211 |
Mental Retardation, Autosomal Dominant 23 |
22 |
| 780 |
c
|
MNT245 |
Mental Retardation, Autosomal Dominant 36 |
22 |
| 781 |
c
|
MNT236 |
Mental Retardation, Autosomal Dominant 39 |
21 |
| 782 |
|
MGL011 |
Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation |
21 |
| 783 |
c
|
MNT207 |
Mental Retardation, X-Linked, Syndromic 32 |
21 |
| 784 |
|
XGB001 |
Xia-Gibbs Syndrome |
21 |
| 785 |
c
|
MNT179 |
Mental Retardation, Autosomal Dominant 21 |
21 |
| 786 |
c
|
MNT325 |
Mental Retardation, Autosomal Recessive 61 |
21 |
| 787 |
c
|
MNT240 |
Mental Retardation, Autosomal Dominant 33 |
21 |
| 788 |
c
|
HYP580 |
Hyperphosphatasia with Mental Retardation Syndrome 4 |
20 |
| 789 |
c
|
TRC100 |
Trichothiodystrophy 3, Photosensitive |
20 |
| 790 |
c
|
MNT154 |
Mental Retardation, Autosomal Recessive 14 |
20 |
| 791 |
|
MNT058 |
Mental Retardation, X-Linked, Syndromic, Turner Type |
20 |
| 792 |
|
PDT043 |
Pediatric Acute-Onset Neuropsychiatric Syndrome |
19 |
| 793 |
c
|
MNT151 |
Mental Retardation, Autosomal Recessive 18 |
18 |
| 794 |
c
|
MNT184 |
Mental Retardation, Autosomal Dominant 11 |
18 |
| 795 |
c
|
MNT186 |
Mental Retardation, Autosomal Dominant 10 |
18 |
| 796 |
|
MNT057 |
Mental Retardation, X-Linked, Syndromic, Raymond Type |
18 |
| 797 |
c
|
TRC099 |
Trichothiodystrophy 2, Photosensitive |
17 |
| 798 |
|
KRK002 |
Karak Syndrome |
17 |
| 799 |
|
EPL170 |
Epilepsy-Aphasia Spectrum |
16 |
| 800 |
|
NRD030 |
Neurodegeneration, Childhood-Onset, with Brain Atrophy |
16 |
| 801 |
|
NRD026 |
Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies |
16 |
| 802 |
|
PNC065 |
Pinched Nerve |
16 |
| 803 |
|
NRD040 |
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter |
16 |
| 804 |
|
ICH006 |
Ichthyosis Alopecia Eclabion Ectropion Mental Retardation |
6 |
| 805 |
|
PLT009 |
Pili Torti Developmental Delay Neurological Abnormalities |
6 |
| 806 |
|
BRN069 |
Brain and Spinal Tumors |
5 |
| 807 |
|
GTD002 |
Gatad2b-Associated Neurodevelopmental Disorder |
5 |
| 808 |
|
NRL024 |
Neurological Complications of Aids |
3 |
| 809 |
P
|
ORT004 |
Orthostatic Intolerance |
68 |
| 810 |
P
|
MCR010 |
Microcephaly |
57 |
| 811 |
c
|
EPS042 |
Episodic Ataxia, Type 1 |
57 |
| 812 |
c
|
EPS035 |
Episodic Ataxia, Type 2 |
54 |
| 813 |
|
ISC002 |
Ischemic Optic Neuropathy |
47 |
| 814 |
c
|
SPS219 |
Spastic Paraplegia 17, Autosomal Dominant |
44 |
| 815 |
c
|
ATS275 |
Autosomal Recessive Primary Microcephaly |
42 |
| 816 |
|
PLX002 |
Plexiform Neurofibroma |
40 |
| 817 |
c
|
EPS017 |
Episodic Ataxia, Type 6 |
37 |
| 818 |
|
DYS006 |
Dysembryoplastic Neuroepithelial Tumor |
37 |
| 819 |
|
CHR581 |
Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb |
35 |
| 820 |
P
|
MYC078 |
Myoclonus and Ataxia |
34 |
| 821 |
|
BRN036 |
Brain Stem Infarction |
34 |
| 822 |
|
ATS203 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
31 |
| 823 |
c
|
MCR247 |
Microcephaly 1, Primary, Autosomal Recessive |
30 |
| 824 |
c
|
CHR547 |
Charcot-Marie-Tooth Disease, Axonal, Type 2u |
30 |
| 825 |
c
|
EPS015 |
Episodic Ataxia, Type 7 |
30 |
| 826 |
c
|
EPS037 |
Episodic Ataxia, Type 4 |
30 |
| 827 |
c
|
MCR329 |
Microcephaly, Autosomal Dominant |
29 |
| 828 |
c
|
CHR544 |
Charcot-Marie-Tooth Disease, Axonal, Type 2w |
28 |
| 829 |
|
MLS013 |
Miles-Carpenter Syndrome |
28 |
| 830 |
c
|
MCR239 |
Microcephaly 5, Primary, Autosomal Recessive |
28 |
| 831 |
c
|
CHR113 |
Charcot-Marie-Tooth Neuropathy Type 1 |
27 |
| 832 |
c
|
CHR618 |
Charcot-Marie-Tooth Disease, Axonal, Type 2cc |
26 |
| 833 |
P
|
BRN030 |
Brain Ependymoma |
25 |
| 834 |
|
HYP241 |
Hypermethioninemia Due to Adenosine Kinase Deficiency |
25 |
| 835 |
|
BRN011 |
Brain Stem Astrocytic Neoplasm |
25 |
| 836 |
|
HNM002 |
Hinman Syndrome |
25 |
| 837 |
|
BRK011 |
Brooks-Wisniewski-Brown Syndrome |
25 |
| 838 |
|
ATY030 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
24 |
| 839 |
c
|
MCR223 |
Microcephaly 10, Primary, Autosomal Recessive |
24 |
| 840 |
c
|
CHR617 |
Charcot-Marie-Tooth Disease, Axonal, Type 2z |
24 |
| 841 |
P
|
MNT198 |
Mental Retardation, X-Linked 98 |
23 |
| 842 |
c
|
CHR622 |
Charcot-Marie-Tooth Disease Type 2a2 |
23 |
| 843 |
|
SML004 |
Small Intestine Neuroendocrine Neoplasm |
23 |
| 844 |
|
NRP048 |
Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration |
23 |
| 845 |
c
|
CHR613 |
Charcot-Marie-Tooth Disease, Axonal, Type 2x |
23 |
| 846 |
c
|
EPS014 |
Episodic Ataxia, Type 3 |
22 |
| 847 |
|
OVR005 |
Ovarian Large-Cell Neuroendocrine Carcinoma |
22 |
| 848 |
c
|
MNT191 |
Mental Retardation, X-Linked, Syndromic 17 |
22 |
| 849 |
c
|
MCR248 |
Microcephaly 3, Primary, Autosomal Recessive |
22 |
| 850 |
c
|
MCR320 |
Microcephaly 17, Primary, Autosomal Recessive |
22 |
| 851 |
c
|
MCR269 |
Microcephaly 15, Primary, Autosomal Recessive |
22 |
| 852 |
c
|
EPS033 |
Episodic Ataxia, Type 8 |
22 |
| 853 |
c
|
MCR236 |
Microcephaly 13, Primary, Autosomal Recessive |
22 |
| 854 |
|
MNT266 |
Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects |
21 |
| 855 |
c
|
MCR254 |
Microcephaly 4, Primary, Autosomal Recessive |
21 |
| 856 |
|
OLF004 |
Olfactory Nerve Neoplasm |
21 |
| 857 |
c
|
MCR314 |
Microcephaly 16, Primary, Autosomal Recessive |
20 |
| 858 |
c
|
MCR250 |
Microcephaly 6, Primary, Autosomal Recessive |
20 |
| 859 |
c
|
MCR270 |
Microcephaly 14, Primary, Autosomal Recessive |
20 |
| 860 |
|
MTR031 |
Motor Neuro-Ophthalmic Disorders |
20 |
| 861 |
c
|
EPS034 |
Episodic Ataxia, Type 5 |
20 |
| 862 |
c
|
MCR255 |
Microcephaly 9, Primary, Autosomal Recessive |
20 |
| 863 |
|
MNT201 |
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
19 |
| 864 |
c
|
MCR238 |
Microcephaly 7, Primary, Autosomal Recessive |
19 |
| 865 |
|
MNT320 |
Mental Retardation, Autosomal Dominant 6, with or Without Seizures |
19 |
| 866 |
c
|
MCR243 |
Microcephaly 8, Primary, Autosomal Recessive |
19 |
| 867 |
c
|
MCR246 |
Microcephaly 12, Primary, Autosomal Recessive |
19 |
| 868 |
c
|
MCR249 |
Microcephaly 11, Primary, Autosomal Recessive |
18 |
| 869 |
|
MNT283 |
Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly |
18 |
| 870 |
|
CNT029 |
Central Nervous System Endodermal Sinus Tumor |
18 |
| 871 |
c
|
CHR344 |
Chronic Orthostatic Intolerance |
18 |
| 872 |
|
MCR333 |
Microcephaly, Seizures, Spasticity, and Brain Calcifications |
18 |
| 873 |
c
|
ADL054 |
Adult Brain Stem Glioma |
18 |
| 874 |
c
|
VSC054 |
Visceral Neuropathy, Familial, Autosomal Recessive |
18 |
| 875 |
|
NRD004 |
Neurodegeneration Due to Cerebral Folate Transport Deficiency |
18 |
| 876 |
|
MNT257 |
Mental Retardation, X-Linked, with Craniofacial Dysmorphism |
17 |
| 877 |
|
FLL034 |
Fallot Complex with Severe Mental and Growth Retardation |
17 |
| 878 |
c
|
MCR356 |
Microcephaly 19, Primary, Autosomal Recessive |
17 |
| 879 |
|
ABD008 |
Abidi X-Linked Mental Retardation Syndrome |
16 |
| 880 |
|
MTR078 |
Motor Neuropathy, Peripheral, with Dysautonomia |
16 |
| 881 |
|
CHL003 |
Childhood Spinal Cord Tumor |
16 |
| 882 |
|
LRY013 |
Laryngeal Neuroendocrine Tumor |
16 |
| 883 |
c
|
MCR322 |
Microcephaly 18, Primary, Autosomal Dominant |
15 |
| 884 |
|
BNP001 |
Bone Peripheral Neuroepithelioma |
15 |
| 885 |
|
CRN293 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
15 |
| 886 |
|
NRD041 |
Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive |
15 |
| 887 |
c
|
MCR360 |
Microcephaly 20, Primary, Autosomal Recessive |
15 |
| 888 |
|
IDP022 |
Idiopathic Spinal Cord Herniation |
14 |
| 889 |
|
SPN007 |
Spinal Cord Oligodendroglioma |
12 |
| 890 |
c
|
GSR001 |
Gosr2-Related Progressive Myoclonus Ataxia |
12 |
| 891 |
c
|
MCR362 |
Microcephaly 22, Primary, Autosomal Recessive |
12 |
| 892 |
c
|
MCR361 |
Microcephaly 21, Primary, Autosomal Recessive |
12 |
| 893 |
|
XLN023 |
X-Linked Mental Retardation Craniofacial Abnormal Microcephaly Club |
11 |
| 894 |
c
|
VSC056 |
Visceral Neuropathy, Familial, Autosomal Dominant |
11 |
| 895 |
|
FCL002 |
Facial Nerve Neoplasm |
11 |
| 896 |
|
VGS002 |
Vagus Nerve Neoplasm |
11 |
| 897 |
|
SYN081 |
Syndromic X-Linked Intellectual Disability Abidi Type |
11 |
| 898 |
|
BRN025 |
Brainstem Intraparenchymal Clear Cell Meningioma |
10 |
| 899 |
|
NRD042 |
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy |
10 |
| 900 |
c
|
MCR363 |
Microcephaly 23, Primary, Autosomal Recessive |
10 |
| 901 |
|
ANL010 |
Anal Neuroendocrine Tumor |
9 |
| 902 |
|
ADL035 |
Adult Spinal Cord Glioblastoma Multiforme |
9 |
| 903 |
|
ADL021 |
Adult Brainstem Gliosarcoma |
9 |
| 904 |
|
SYN090 |
Syndromic X-Linked Intellectual Disability Turner Type |
9 |
| 905 |
|
TRG004 |
Trigeminal Nerve Neoplasm |
8 |
| 906 |
|
ATS388 |
Autosomal Dominant Non-Syndromic Intellectual Disability 6 |
8 |
| 907 |
|
CRN032 |
Cranial Nerve Iii Tumor |
8 |
| 908 |
|
HYP079 |
Hypoglossal Nerve Neoplasm |
8 |
| 909 |
|
TRC009 |
Trochlear Nerve Neoplasm |
8 |
| 910 |
|
CNG458 |
Congenital Abducens Nerve Palsy |
7 |
| 911 |
|
CHL055 |
Childhood Germ Cell Brain Tumor |
7 |
| 912 |
|
PRM283 |
Primitive Neuroectodermal Tumor of the Corpus Uteri |
7 |
| 913 |
|
ADL003 |
Adult Brainstem Mixed Glioma |
7 |
| 914 |
|
SPN003 |
Spinal Cord Dermoid Cyst |
7 |
| 915 |
|
ABD001 |
Abducens Nerve Neoplasm |
7 |
| 916 |
|
GLS002 |
Glossopharyngeal Nerve Neoplasm |
7 |
| 917 |
|
MLG027 |
Malignant Oculomotor Nerve Tumor |
7 |
| 918 |
|
SPN001 |
Spinal Accessory Nerve Neoplasm |
7 |
| 919 |
|
CLS051 |
Classic Neuroendocrine Tumor of Appendix |
7 |
| 920 |
|
ALZ051 |
Alzheimer Disease Without Neurofibrillary Tangles |
6 |
| 921 |
|
CHL005 |
Childhood Mediastinal Neurogenic Tumor |
6 |
| 922 |
|
ARN002 |
Arnold Stickler Bourne Syndrome |
5 |
| 923 |
|
NRL012 |
Neurological Manifestations of Pompe Disease |
5 |
| 924 |
P
|
BNG037 |
Benign Angiitis of the Central Nervous System |
4 |
| 925 |
|
VSC023 |
Vasculitis Syndromes of the Central and Peripheral Nervous Systems |
4 |
| 926 |
|
THM007 |
Thumb Stiff Brachydactyly Mental Retardation |
4 |
| 927 |
|
PST045 |
Post-Streptococcal Neurologic Disorders |
3 |
| 928 |
c
|
SPN294 |
Spinocerebellar Ataxia 1 |
58 |
| 929 |
P
|
SPN301 |
Spinocerebellar Ataxia 2 |
56 |
| 930 |
c
|
SPN291 |
Spinocerebellar Ataxia 7 |
53 |
| 931 |
P
|
GLM040 |
Glioma Susceptibility 1 |
52 |
| 932 |
|
SPN020 |
Spondylosis |
51 |
| 933 |
|
PRR007 |
Perry Syndrome |
50 |
| 934 |
c
|
RBN021 |
Rubinstein-Taybi Syndrome 1 |
49 |
| 935 |
c
|
SPN309 |
Spinocerebellar Ataxia 6 |
49 |
| 936 |
c
|
SPN293 |
Spinocerebellar Ataxia 12 |
48 |
| 937 |
c
|
SPN314 |
Spinocerebellar Ataxia 10 |
47 |
| 938 |
c
|
SPN312 |
Spinocerebellar Ataxia 14 |
46 |
| 939 |
c
|
SPN296 |
Spinocerebellar Ataxia 17 |
46 |
| 940 |
|
OPT007 |
Optic Nerve Glioma |
46 |
| 941 |
c
|
SPN100 |
Spinocerebellar Ataxia 27 |
45 |
| 942 |
c
|
SPN305 |
Spinocerebellar Ataxia 11 |
43 |
| 943 |
c
|
SPN265 |
Spinocerebellar Ataxia 36 |
42 |
| 944 |
c
|
SPN290 |
Spinocerebellar Ataxia 15 |
40 |
| 945 |
c
|
SPN103 |
Spinocerebellar Ataxia 31 |
40 |
| 946 |
c
|
SPN106 |
Spinocerebellar Ataxia 5 |
40 |
| 947 |
c
|
SPN214 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
40 |
| 948 |
c
|
SPN308 |
Spinocerebellar Ataxia 28 |
39 |
| 949 |
|
NRM006 |
Neuromuscular Junction Disease |
39 |
| 950 |
|
BRC011 |
Brachial Plexus Neuropathy |
39 |
| 951 |
c
|
SPN304 |
Spinocerebellar Ataxia 8 |
38 |
| 952 |
c
|
CHR521 |
Charcot-Marie-Tooth Disease, Type 4b1 |
37 |
| 953 |
|
MNN028 |
Mononeuropathy of the Median Nerve, Mild |
37 |
| 954 |
c
|
CHR516 |
Charcot-Marie-Tooth Disease, Type 4c |
37 |
| 955 |
c
|
SPN097 |
Spinocerebellar Ataxia 23 |
37 |
| 956 |
|
IFP001 |
Ifap Syndrome with or Without Bresheck Syndrome |
37 |
| 957 |
c
|
CHR421 |
Charcot-Marie-Tooth Disease, Type 4h |
37 |
| 958 |
c
|
SPN325 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
36 |
| 959 |
c
|
SPN299 |
Spinocerebellar Ataxia 20 |
36 |
| 960 |
c
|
MYS055 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
35 |
| 961 |
c
|
MYS044 |
Myasthenic Syndrome, Congenital, 7, Presynaptic |
34 |
| 962 |
P
|
SPS008 |
Spastic Ataxia |
33 |
| 963 |
|
NRT011 |
Neurotrophic Keratopathy |
33 |
| 964 |
c
|
SPN201 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
32 |
| 965 |
c
|
CHR351 |
Charcot-Marie-Tooth Disease, Axonal, Type 2n |
32 |
| 966 |
c
|
SPN207 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
32 |
| 967 |
c
|
SPN266 |
Spinocerebellar Ataxia 35 |
32 |
| 968 |
c
|
SPN101 |
Spinocerebellar Ataxia 29 |
32 |
| 969 |
|
PDN001 |
Pudendal Neuralgia |
32 |
| 970 |
|
NRF016 |
Neurofibromatosis, Familial Spinal |
31 |
| 971 |
|
ULN001 |
Ulnar Neuropathy |
31 |
| 972 |
c
|
SPN095 |
Spinocerebellar Ataxia 19 |
31 |
| 973 |
c
|
SPN264 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
31 |
| 974 |
c
|
SPN099 |
Spinocerebellar Ataxia 26 |
31 |
| 975 |
c
|
SPN261 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
30 |
| 976 |
c
|
SPN288 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
30 |
| 977 |
c
|
SPN295 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
30 |
| 978 |
c
|
SPN104 |
Spinocerebellar Ataxia 34 |
29 |
| 979 |
c
|
RBN008 |
Rubinstein-Taybi Syndrome 2 |
29 |
| 980 |
c
|
SPN313 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
29 |
| 981 |
c
|
SPN258 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
28 |
| 982 |
P
|
PRS124 |
Presynaptic Congenital Myasthenic Syndromes |
28 |
| 983 |
c
|
SPN298 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
27 |
| 984 |
c
|
SPN383 |
Spinocerebellar Ataxia 42 |
27 |
| 985 |
c
|
MYS069 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
27 |
| 986 |
c
|
SPN292 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
27 |
| 987 |
c
|
CHR491 |
Charcot-Marie-Tooth Disease, Dominant Intermediate a |
27 |
| 988 |
c
|
SPN098 |
Spinocerebellar Ataxia 25 |
27 |
| 989 |
|
ENC038 |
Encephalopathy, Progressive, with or Without Lipodystrophy |
27 |
| 990 |
c
|
SPN273 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
27 |
| 991 |
c
|
SPS072 |
Spastic Ataxia 1, Autosomal Dominant |
27 |
| 992 |
c
|
SPN247 |
Spinocerebellar Ataxia Type 19/22 |
27 |
| 993 |
c
|
SPN283 |
Spinocerebellar Ataxia 37 |
27 |
| 994 |
c
|
SPS212 |
Spastic Ataxia 5, Autosomal Recessive |
27 |
| 995 |
c
|
SPN284 |
Spinocerebellar Ataxia 38 |
27 |
| 996 |
c
|
SPN272 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
26 |
| 997 |
c
|
SPN372 |
Spinocerebellar Ataxia 43 |
26 |
| 998 |
c
|
SPN376 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
26 |
| 999 |
|
MTC055 |
Mitochondrial Dna Depletion Syndrome 4b |
26 |
| 1000 |
c
|
SPN254 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
26 |
| 1001 |
c
|
HYP697 |
Hyperphosphatasia with Mental Retardation Syndrome 6 |
25 |
| 1002 |
|
SPR032 |
Superficial Siderosis of the Central Nervous System |
25 |
| 1003 |
c
|
SPN375 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
25 |
| 1004 |
c
|
MNT158 |
Mental Retardation, Autosomal Dominant 22 |
25 |
| 1005 |
c
|
SPN377 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
25 |
| 1006 |
|
MNT290 |
Mental Retardation, X-Linked 99, Syndromic, Female-Restricted |
24 |
| 1007 |
c
|
CHR668 |
Charcot-Marie-Tooth Disease, Axonal, Type 2o |
24 |
| 1008 |
c
|
SPN286 |
Spinocerebellar Ataxia 40 |
24 |
| 1009 |
c
|
SPS142 |
Spastic Ataxia 2, Autosomal Recessive |
23 |
| 1010 |
c
|
SPS208 |
Spastic Ataxia 4, Autosomal Recessive |
23 |
| 1011 |
|
HRT037 |
Heart and Brain Malformation Syndrome |
23 |
| 1012 |
c
|
SPS136 |
Spastic Ataxia 3, Autosomal Recessive |
23 |
| 1013 |
c
|
SPN323 |
Spinocerebellar Ataxia 41 |
23 |
| 1014 |
c
|
MYS068 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
22 |
| 1015 |
c
|
MNT183 |
Mental Retardation, Autosomal Recessive 36 |
22 |
| 1016 |
c
|
MNT273 |
Mental Retardation, Autosomal Dominant 44 |
22 |
| 1017 |
|
ANT066 |
Anterior Cutaneous Nerve Entrapment Syndrome |
22 |
| 1018 |
c
|
MNT248 |
Mental Retardation, X-Linked 102 |
22 |
| 1019 |
c
|
HYP442 |
Hyperphosphatasia with Mental Retardation Syndrome 2 |
22 |
| 1020 |
c
|
SPN259 |
Spinocerebellar Ataxia 32 |
21 |
| 1021 |
c
|
SPN384 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
21 |
| 1022 |
c
|
SPN378 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
21 |
| 1023 |
c
|
SPN419 |
Spinocerebellar Ataxia 45 |
20 |
| 1024 |
c
|
CHR548 |
Charcot-Marie-Tooth Disease, Axonal, Type 2v |
20 |
| 1025 |
c
|
SPS191 |
Spastic Ataxia 7, Autosomal Dominant |
20 |
| 1026 |
c
|
SPN418 |
Spinocerebellar Ataxia 44 |
20 |
| 1027 |
|
CHR655 |
Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive |
20 |
| 1028 |
c
|
SPN102 |
Spinocerebellar Ataxia 30 |
20 |
| 1029 |
c
|
SPN107 |
Spinocerebellar Ataxia 9 |
19 |
| 1030 |
|
ENC050 |
Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities |
19 |
| 1031 |
c
|
MNT224 |
Mental Retardation, X-Linked 101 |
19 |
| 1032 |
c
|
MNT218 |
Mental Retardation, X-Linked 99 |
18 |
| 1033 |
|
ENC059 |
Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity |
17 |
| 1034 |
c
|
SPN421 |
Spinocerebellar Ataxia 47 |
17 |
| 1035 |
|
NRD023 |
Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language |
17 |
| 1036 |
P
|
ALP076 |
Alopecia-Mental Retardation Syndrome 1 |
17 |
| 1037 |
c
|
GLM047 |
Glioma Susceptibility 3 |
17 |
| 1038 |
c
|
MNT223 |
Mental Retardation, X-Linked 100 |
17 |
| 1039 |
c
|
SPN336 |
Spinocerebellar Ataxia Type 16 |
17 |
| 1040 |
|
PCH018 |
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts |
16 |
| 1041 |
c
|
MNT294 |
Mental Retardation, X-Linked 106 |
16 |
| 1042 |
c
|
GLM043 |
Glioma Susceptibility 9 |
15 |
| 1043 |
|
BCK018 |
Bickerstaff Brainstem Encephalitis |
15 |
| 1044 |
c
|
GLM025 |
Glioma Susceptibility 2 |
15 |
| 1045 |
c
|
SPN111 |
Spinocerebellar Ataxia Autosomal Recessive 5 |
15 |
| 1046 |
|
SPN004 |
Spinal Cord Lipoma |
14 |
| 1047 |
c
|
SPS214 |
Spastic Ataxia 4 |
9 |
| 1048 |
c
|
SPS171 |
Spastic Ataxia 5 |
9 |
| 1049 |
c
|
GRD008 |
Grid2-Related Spinocerebellar Ataxia |
9 |
| 1050 |
c
|
GLM019 |
Glioma Susceptibility 4 |
9 |
| 1051 |
c
|
GLM021 |
Glioma Susceptibility 6 |
9 |
| 1052 |
c
|
GLM022 |
Glioma Susceptibility 8 |
9 |
| 1053 |
c
|
SPS162 |
Spastic Ataxia 1 |
8 |
| 1054 |
c
|
SPS163 |
Spastic Ataxia 3 |
8 |
| 1055 |
c
|
GLM020 |
Glioma Susceptibility 5 |
8 |
| 1056 |
c
|
GLM038 |
Glioma Susceptibility 7 |
8 |
| 1057 |
c
|
SPS170 |
Spastic Ataxia 2 |
7 |
| 1058 |
c
|
SPS229 |
Spastic Ataxia 8 |
7 |
| 1059 |
c
|
SPS172 |
Spastic Ataxia 7 |
7 |
| 1060 |
|
MDS014 |
Mediastinum Neuroblastoma |
6 |
| 1061 |
P
|
RBN007 |
Rubinstein Taybi Like Syndrome |
5 |
| 1062 |
|
MTR033 |
Motor Sensory Neuropathy Type 1 Aplasia Cutis Congenita |
3 |
| 1063 |
P
|
NRP001 |
Neuropathy |
63 |
| 1064 |
P
|
ENC018 |
Encephalopathy |
62 |
| 1065 |
c
|
SPN327 |
Spinocerebellar Ataxia, Autosomal Recessive 1 |
60 |
| 1066 |
|
ATN005 |
Autonomic Dysfunction |
50 |
| 1067 |
|
ATN004 |
Autonomic Neuropathy |
46 |
| 1068 |
|
MDL002 |
Medulloepithelioma |
45 |
| 1069 |
|
ATX031 |
Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus |
45 |
| 1070 |
|
BRN080 |
Brain Ischemia |
44 |
| 1071 |
|
BRN032 |
Brain Glioma |
43 |
| 1072 |
|
EST003 |
Eastern Equine Encephalitis |
41 |
| 1073 |
P
|
PNT019 |
Pontocerebellar Hypoplasia |
41 |
| 1074 |
c
|
PNT034 |
Pontocerebellar Hypoplasia, Type 2e |
40 |
| 1075 |
c
|
PNT036 |
Pontocerebellar Hypoplasia, Type 6 |
40 |
| 1076 |
c
|
PNT049 |
Pontocerebellar Hypoplasia, Type 2d |
40 |
| 1077 |
c
|
PNT018 |
Pontocerebellar Hypoplasia, Type 1b |
37 |
| 1078 |
P
|
RHB008 |
Rhabdoid Tumor Predisposition Syndrome 1 |
36 |
| 1079 |
|
PLM039 |
Pulmonary Neuroendocrine Tumor |
36 |
| 1080 |
c
|
PNT010 |
Pontocerebellar Hypoplasia Type 1 |
35 |
| 1081 |
|
TRG003 |
Trigeminal Nerve Disease |
35 |
| 1082 |
|
VST001 |
Vestibular Neuronitis |
34 |
| 1083 |
|
GLS004 |
Glossopharyngeal Neuralgia |
34 |
| 1084 |
|
CHR543 |
Chromosome 2q37 Deletion Syndrome |
34 |
| 1085 |
P
|
SCH017 |
Schindler Disease |
33 |
| 1086 |
c
|
PNT045 |
Pontocerebellar Hypoplasia, Type 1a |
33 |
| 1087 |
c
|
CHR670 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f |
33 |
| 1088 |
|
ATN003 |
Autonomic Nervous System Neoplasm |
33 |
| 1089 |
c
|
PNT037 |
Pontocerebellar Hypoplasia, Type 3 |
32 |
| 1090 |
c
|
PNT044 |
Pontocerebellar Hypoplasia, Type 2a |
31 |
| 1091 |
c
|
PNT033 |
Pontocerebellar Hypoplasia, Type 10 |
31 |
| 1092 |
c
|
PNT035 |
Pontocerebellar Hypoplasia, Type 1c |
30 |
| 1093 |
c
|
PNT043 |
Pontocerebellar Hypoplasia, Type 4 |
30 |
| 1094 |
|
PLY158 |
Polyglucosan Body Neuropathy, Adult Form |
29 |
| 1095 |
c
|
PNT032 |
Pontocerebellar Hypoplasia, Type 9 |
29 |
| 1096 |
c
|
PNT046 |
Pontocerebellar Hypoplasia, Type 5 |
28 |
| 1097 |
c
|
ENC057 |
Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 |
27 |
| 1098 |
c
|
MNT145 |
Mental Retardation, Autosomal Recessive 5 |
26 |
| 1099 |
|
BRC097 |
Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation |
26 |
| 1100 |
c
|
RHB011 |
Rhabdoid Tumor Predisposition Syndrome 2 |
26 |
| 1101 |
|
ZTT001 |
Zttk Syndrome |
25 |
| 1102 |
c
|
MNT280 |
Mental Retardation, Autosomal Dominant 43 |
25 |
| 1103 |
c
|
PNT030 |
Pontocerebellar Hypoplasia, Type 8 |
25 |
| 1104 |
c
|
PNT039 |
Pontocerebellar Hypoplasia, Type 7 |
25 |
| 1105 |
|
MND023 |
Mend Syndrome |
25 |
| 1106 |
c
|
PNT048 |
Pontocerebellar Hypoplasia, Type 2c |
24 |
| 1107 |
c
|
PNT047 |
Pontocerebellar Hypoplasia, Type 2b |
24 |
| 1108 |
c
|
MNT166 |
Mental Retardation, Autosomal Recessive 39 |
24 |
| 1109 |
c
|
MNT213 |
Mental Retardation, Autosomal Recessive 40 |
24 |
| 1110 |
c
|
MNT242 |
Mental Retardation, Autosomal Dominant 40 |
23 |
| 1111 |
|
OHD003 |
Ohdo Syndrome, X-Linked |
23 |
| 1112 |
c
|
PNT050 |
Pontocerebellar Hypoplasia, Type 11 |
23 |
| 1113 |
c
|
MNT216 |
Mental Retardation, Autosomal Recessive 41 |
23 |
| 1114 |
c
|
MNT176 |
Mental Retardation, Autosomal Recessive 38 |
23 |
| 1115 |
|
LSN001 |
Lesion of Sciatic Nerve |
23 |
| 1116 |
|
ALC002 |
Alcohol-Related Neurodevelopmental Disorder |
22 |
| 1117 |
|
CTR140 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia |
22 |
| 1118 |
c
|
MNT221 |
Mental Retardation, Autosomal Recessive 44 |
22 |
| 1119 |
c
|
MNT244 |
Mental Retardation, Autosomal Recessive 49 |
21 |
| 1120 |
c
|
MNT227 |
Mental Retardation, Autosomal Recessive 46 |
21 |
| 1121 |
c
|
PNT042 |
Pontocerebellar Hypoplasia, Type 2f |
21 |
| 1122 |
c
|
MNT177 |
Mental Retardation, Autosomal Recessive 27 |
21 |
| 1123 |
c
|
MNT323 |
Mental Retardation, Autosomal Dominant 48 |
21 |
| 1124 |
c
|
MNT234 |
Mental Retardation, Autosomal Recessive 48 |
20 |
| 1125 |
c
|
MNT220 |
Mental Retardation, Autosomal Recessive 45 |
20 |
| 1126 |
|
ENC046 |
Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy |
20 |
| 1127 |
c
|
MNT328 |
Mental Retardation, Autosomal Dominant 52 |
20 |
| 1128 |
c
|
MNT215 |
Mental Retardation, Autosomal Recessive 43 |
20 |
| 1129 |
c
|
MNT225 |
Mental Retardation, Autosomal Recessive 47 |
20 |
| 1130 |
c
|
MNT272 |
Mental Retardation, Autosomal Dominant 41 |
19 |
| 1131 |
c
|
MNT324 |
Mental Retardation, Autosomal Dominant 49 |
19 |
| 1132 |
c
|
MNT329 |
Mental Retardation, Autosomal Dominant 53 |
19 |
| 1133 |
c
|
MNT286 |
Mental Retardation, Autosomal Dominant 45 |
18 |
| 1134 |
c
|
MNT327 |
Mental Retardation, Autosomal Dominant 51 |
18 |
| 1135 |
|
BRN007 |
Brain Oligodendroglioma |
18 |
| 1136 |
c
|
MNT264 |
Mental Retardation, Autosomal Recessive 52 |
18 |
| 1137 |
c
|
MNT330 |
Mental Retardation, Autosomal Dominant 54 |
18 |
| 1138 |
c
|
MNT326 |
Mental Retardation, Autosomal Dominant 50 |
18 |
| 1139 |
c
|
MNT279 |
Mental Retardation, Autosomal Dominant 47 |
18 |
| 1140 |
|
NRD029 |
Neurodevelopmental Disorder with Involuntary Movements |
18 |
| 1141 |
c
|
MNT243 |
Mental Retardation, Autosomal Recessive 50 |
18 |
| 1142 |
c
|
MNT278 |
Mental Retardation, Autosomal Dominant 46 |
17 |
| 1143 |
|
AMM001 |
Amme Complex |
16 |
| 1144 |
c
|
MNT195 |
Mental Retardation, X-Linked 96 |
15 |
| 1145 |
|
MNT107 |
Mental Retardation, Fra12a Type |
14 |
| 1146 |
c
|
MNT332 |
Mental Retardation, Autosomal Dominant 56 |
14 |
| 1147 |
|
NRP058 |
Neuropathy, Hereditary Sensory, X-Linked |
12 |
| 1148 |
|
NRD038 |
Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy |
12 |
| 1149 |
|
NRP057 |
Neuropathy, Hereditary Sensory, Atypical |
11 |
| 1150 |
c
|
EXS014 |
Exosc3-Related Pontocerebellar Hypoplasia |
10 |
| 1151 |
c
|
TSN003 |
Tsen54-Related Pontocerebellar Hypoplasia |
8 |
| 1152 |
|
CLP007 |
Clpb Deficiency |
7 |
| 1153 |
|
SCR027 |
Sacral Nerve Root Cysts |
6 |
| 1154 |
|
NRL011 |
Neurological Consequences of Cytomegalovirus Infection |
3 |
| 1155 |
|
ANX010 |
Anxiety |
72 |
| 1156 |
|
OBS002 |
Obsessive-Compulsive Disorder |
66 |
| 1157 |
|
HMR039 |
Hemorrhage, Intracerebral |
57 |
| 1158 |
|
BRN004 |
Brain Edema |
55 |
| 1159 |
|
GLM004 |
Gliomatosis Cerebri |
52 |
| 1160 |
|
NRM004 |
Neuroma |
51 |
| 1161 |
P
|
SYP003 |
Syphilis |
51 |
| 1162 |
|
CRB090 |
Cerebral Hypoxia |
46 |
| 1163 |
|
CNT046 |
Central Nervous System Vasculitis |
45 |
| 1164 |
|
NNT033 |
Neonatal Hypoxic and Ischemic Brain Injury |
43 |
| 1165 |
|
DBT002 |
Diabetic Autonomic Neuropathy |
43 |
| 1166 |
|
CRB033 |
Cerebral Degeneration |
42 |
| 1167 |
|
HYP134 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
42 |
| 1168 |
c
|
NMN016 |
Niemann-Pick Disease, Type B |
42 |
| 1169 |
|
CLF037 |
Cleft Lip/palate-Ectodermal Dysplasia Syndrome |
41 |
| 1170 |
|
OHD004 |
Ohdo Syndrome |
40 |
| 1171 |
c
|
SCN006 |
Secondary Syphilis |
40 |
| 1172 |
c
|
CNG033 |
Congenital Syphilis |
40 |
| 1173 |
|
NRX001 |
Neuroaxonal Dystrophy |
40 |
| 1174 |
|
MTC111 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
38 |
| 1175 |
|
FCL011 |
Facial Nerve Disease |
36 |
| 1176 |
c
|
CHR642 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
35 |
| 1177 |
|
SPN018 |
Spinal Cord Astrocytoma |
34 |
| 1178 |
|
PRM205 |
Primary Hepatic Neuroendocrine Carcinoma |
34 |
| 1179 |
c
|
MLT009 |
Multiple Cranial Nerve Palsy |
32 |
| 1180 |
|
PRN016 |
Peroneal Neuropathy |
32 |
| 1181 |
|
PLM038 |
Pulmonary Large Cell Neuroendocrine Carcinoma |
32 |
| 1182 |
|
CNT041 |
Central Nervous System Melanocytic Neoplasm |
31 |
| 1183 |
c
|
CHR484 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
31 |
| 1184 |
c
|
PRM022 |
Primary Syphilis |
31 |
| 1185 |
P
|
CNT093 |
Central Nervous System Teratoma |
30 |
| 1186 |
|
SMT020 |
Smith-Kingsmore Syndrome |
30 |
| 1187 |
c
|
CNG031 |
Congenital Nervous System Abnormality |
30 |
| 1188 |
|
EPT008 |
Epithelioid Malignant Peripheral Nerve Sheath Tumor |
29 |
| 1189 |
c
|
CHR545 |
Charcot-Marie-Tooth Disease, Axonal, Type 2h |
29 |
| 1190 |
c
|
CHR641 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
27 |
| 1191 |
|
ISC001 |
Ischemic Neuropathy |
27 |
| 1192 |
c
|
SNS009 |
Sensory Neuropathy Type 1 |
27 |
| 1193 |
|
CKS001 |
Ck Syndrome |
26 |
| 1194 |
|
BRN008 |
Brain Compression |
25 |
| 1195 |
|
NRS001 |
Neuroschistosomiasis |
25 |
| 1196 |
|
MNN005 |
Meningovascular Neurosyphilis |
25 |
| 1197 |
|
CNT023 |
Central Nervous System Hemangioma |
25 |
| 1198 |
c
|
LTC001 |
Late Congenital Syphilis |
25 |
| 1199 |
|
EPL149 |
Epilepsy, Hearing Loss, and Mental Retardation Syndrome |
24 |
| 1200 |
c
|
ERL002 |
Early Congenital Syphilis |
24 |
| 1201 |
|
FST001 |
Foster-Kennedy Syndrome |
23 |
| 1202 |
|
PRN008 |
Peroneal Nerve Paralysis |
23 |
| 1203 |
|
LKN024 |
Leukoencephalopathy, Brain Calcifications, and Cysts |
23 |
| 1204 |
|
ATS204 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
23 |
| 1205 |
P
|
CNT044 |
Central Nervous System Primitive Neuroectodermal Neoplasm |
22 |
| 1206 |
|
MLP006 |
Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type |
22 |
| 1207 |
|
BRN021 |
Brain Sarcoma |
22 |
| 1208 |
|
ILL008 |
Ileal Neuroendocrine Tumor |
22 |
| 1209 |
|
BRN031 |
Brain Germinoma |
22 |
| 1210 |
|
AKL001 |
Au-Kline Syndrome |
22 |
| 1211 |
|
HLL013 |
Hall-Riggs Mental Retardation Syndrome |
22 |
| 1212 |
|
TBL007 |
Tibial Neuropathy |
22 |
| 1213 |
|
ALP089 |
Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality |
21 |
| 1214 |
|
ESP009 |
Esophageal Neuroendocrine Tumor |
21 |
| 1215 |
|
RDL014 |
Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation |
20 |
| 1216 |
|
GMS002 |
Gms Syndrome |
20 |
| 1217 |
|
ULN002 |
Ulnar Nerve Lesion |
20 |
| 1218 |
P
|
NNP004 |
Nonphotosensitive Trichothiodystrophy |
20 |
| 1219 |
|
NRN045 |
Neuroendocrine Neoplasm of Appendix |
20 |
| 1220 |
|
BLP044 |
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation |
19 |
| 1221 |
c
|
CHR115 |
Charcot-Marie-Tooth Neuropathy Type 2a |
19 |
| 1222 |
|
YLK002 |
Yolk Sac Tumor of Central Nervous System |
19 |
| 1223 |
|
INT022 |
Intracranial Primitive Neuroectodermal Tumor |
19 |
| 1224 |
|
BRS005 |
Breast Neuroendocrine Neoplasm |
18 |
| 1225 |
c
|
INF044 |
Infantile Axonal Neuropathy |
18 |
| 1226 |
|
PBL004 |
Piebald Trait with Neurologic Defects |
17 |
| 1227 |
|
RJB001 |
Rajab Syndrome |
17 |
| 1228 |
|
PTR031 |
Pterygium Colli and Mental Retardation with Facial and Digital Anomalies |
17 |
| 1229 |
|
WLF012 |
Wolff Mental Retardation Syndrome |
17 |
| 1230 |
|
ULN022 |
Ulnar Hypoplasia with Mental Retardation |
16 |
| 1231 |
|
OVR004 |
Ovary Neuroendocrine Neoplasm |
16 |
| 1232 |
|
LMB066 |
Limb Defects, Distal Transverse, with Mental Retardation and Spasticity |
16 |
| 1233 |
c
|
MNT204 |
Mental Retardation, X-Linked 23 |
15 |
| 1234 |
|
JJN009 |
Jejunal Neuroendocrine Tumor |
15 |
| 1235 |
|
NRC007 |
Neuroectodermal Endocrine Syndrome |
15 |
| 1236 |
|
SPN347 |
Spondyloepiphyseal Dysplasia Tarda with Mental Retardation |
15 |
| 1237 |
|
HYP687 |
Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy |
15 |
| 1238 |
|
ADN078 |
Adnp Syndrome |
15 |
| 1239 |
|
SPS218 |
Spastic Diplegia and Mental Retardation |
15 |
| 1240 |
c
|
MNT202 |
Mental Retardation, X-Linked 53 |
15 |
| 1241 |
c
|
GLY104 |
Glycosylphosphatidylinositol Biosynthesis Defect 16 |
15 |
| 1242 |
|
SCH022 |
Schimke X-Linked Mental Retardation Syndrome |
15 |
| 1243 |
|
VSC048 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
15 |
| 1244 |
|
GLS008 |
Glossopharyngeal Nerve Disease |
15 |
| 1245 |
|
SPN025 |
Spinal Cord Melanoma |
15 |
| 1246 |
|
HYP183 |
Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features |
15 |
| 1247 |
|
CNG457 |
Congenital Oculomotor Nerve Palsy |
15 |
| 1248 |
P
|
MNT312 |
Mental Health Wellness 1 |
14 |
| 1249 |
|
PRS131 |
Prostate Cancer/brain Cancer Susceptibility |
14 |
| 1250 |
|
NRP047 |
Neuropathy, Hereditary Thermosensitive |
14 |
| 1251 |
|
BRN027 |
Brain Angioma |
14 |
| 1252 |
|
OCL024 |
Ocular Neuromyotonia |
14 |
| 1253 |
|
NRD050 |
Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities |
14 |
| 1254 |
|
SPR039 |
Supratentorial Primitive Neuroectodermal Tumors, Childhood |
14 |
| 1255 |
c
|
NRD047 |
Neurodegeneration with Brain Iron Accumulation 7 |
14 |
| 1256 |
c
|
NRD048 |
Neurodegeneration with Brain Iron Accumulation 8 |
14 |
| 1257 |
c
|
ATS261 |
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B |
14 |
| 1258 |
|
CRB198 |
Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome |
13 |
| 1259 |
|
NRP006 |
Neuropathy, Congenital, with Arthrogryposis Multiplex |
13 |
| 1260 |
|
EFV001 |
Efavirenz, Poor Metabolism of |
13 |
| 1261 |
|
CNG362 |
Congenital Trochlear Nerve Palsy |
12 |
| 1262 |
|
ATN001 |
Autonomic Peripheral Neuropathy |
12 |
| 1263 |
|
PLY113 |
Polyneuropathy Associated with Igm Monoclonal Gammapathy with Anti-Mag |
12 |
| 1264 |
|
NRD049 |
Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or Without Seizures |
11 |
| 1265 |
|
CLN014 |
Colon Neuroendocrine Neoplasm |
11 |
| 1266 |
c
|
NRB012 |
Neuroblastoma 5 |
11 |
| 1267 |
P
|
FTL014 |
Fetal Brain Disruption Sequence |
11 |
| 1268 |
|
MNT311 |
Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration |
11 |
| 1269 |
|
PRS017 |
Prostate Neuroendocrine Neoplasm |
11 |
| 1270 |
|
OST048 |
Osteopetrosis and Infantile Neuroaxonal Dystrophy |
11 |
| 1271 |
c
|
CHR120 |
Charcot-Marie-Tooth Neuropathy X Type 1 |
11 |
| 1272 |
|
ICH027 |
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin |
11 |
| 1273 |
c
|
NRB011 |
Neuroblastoma 4 |
11 |
| 1274 |
c
|
PMP012 |
Pmp2-Related Charcot-Marie-Tooth Disease Type 1 |
10 |
| 1275 |
P
|
NRP005 |
Neuropathy Sensory Spastic Paraplegia |
10 |
| 1276 |
|
KCN019 |
Kcnk9 Imprinting Syndrome |
10 |
| 1277 |
c
|
DNM001 |
Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy |
10 |
| 1278 |
|
PRP096 |
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain |
10 |
| 1279 |
c
|
NRB013 |
Neuroblastoma 6 |
10 |
| 1280 |
c
|
NRB016 |
Neuroblastoma 7 |
10 |
| 1281 |
|
SPN002 |
Spinal Cord Intramedullary Teratoma |
9 |
| 1282 |
|
SPN024 |
Spinal Cord Sarcoma |
9 |
| 1283 |
|
RNL088 |
Renal Cell Carcinoma Associated with Neuroblastoma |
9 |
| 1284 |
|
CRB010 |
Cerebellopontine Angle Primitive Neuroectodermal |
9 |
| 1285 |
|
SNL005 |
Senile Degeneration of Brain |
8 |
| 1286 |
|
SYN093 |
Syndromic X-Linked Intellectual Disability Raymond Type |
8 |
| 1287 |
|
ATM073 |
Autoimmune-Related Retinopathy and Optic Neuropathy |
8 |
| 1288 |
|
SCH001 |
Schwannoma of Twelfth Cranial Nerve |
8 |
| 1289 |
|
CHL017 |
Childhood Brain Meningioma |
8 |
| 1290 |
|
NRF001 |
Neurofibroma of Spinal Cord |
8 |
| 1291 |
|
ATS389 |
Autosomal Dominant Non-Syndromic Intellectual Disability 8 |
8 |
| 1292 |
|
NRF006 |
Neurofibroma of the Heart |
8 |
| 1293 |
|
MLG125 |
Malignant Mediastinal Neurogenic Neoplasm |
8 |
| 1294 |
|
SFT001 |
Soft Tissue Peripheral Neuroepithelioma |
8 |
| 1295 |
c
|
SVR017 |
Severe Infantile Axonal Neuropathy |
8 |
| 1296 |
c
|
ADL036 |
Adult Central Nervous System Germinoma |
7 |
| 1297 |
|
MLG057 |
Malignant Cardiac Peripheral Nerve Sheath Neoplasm |
7 |
| 1298 |
|
CLL024 |
Colloid Cysts of Third Ventricle |
7 |
| 1299 |
|
NRF005 |
Neurofibroma of Gallbladder |
7 |
| 1300 |
c
|
MNT313 |
Mental Health Wellness 2 |
7 |
| 1301 |
|
HRD181 |
Hereditary Neuroendocrine Tumor of Small Intestine |
7 |
| 1302 |
c
|
ADL055 |
Adult Central Nervous System Teratoma |
7 |
| 1303 |
|
NSL005 |
Nasal Cavity Olfactory Neuroblastoma |
7 |
| 1304 |
|
PLN002 |
Plantar Nerve Lesion |
6 |
| 1305 |
|
NRV001 |
Nerve Root Neoplasm |
6 |
| 1306 |
|
BRN023 |
Brain Stem Ependymoma |
6 |
| 1307 |
|
CTS013 |
Cutis Verticis Gyrata Mental Deficiency |
6 |
| 1308 |
|
INF155 |
Infantile-Onset Axonal Motor and Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
6 |
| 1309 |
c
|
GDP003 |
Gdap1-Related Hereditary Motor and Sensory Neuropathy |
6 |
| 1310 |
|
CNT013 |
Central Nervous System Leiomyoma |
6 |
| 1311 |
|
CHL051 |
Childhood Brain Germinoma |
6 |
| 1312 |
|
CHL053 |
Childhood Brainstem Astrocytoma |
6 |
| 1313 |
|
ADL004 |
Adult Brainstem Astrocytoma |
6 |
| 1314 |
|
BRN020 |
Brain Stem Angioblastoma |
6 |
| 1315 |
|
CRV019 |
Cervical Spinal Canal and Spinal Cord Meningioma |
6 |
| 1316 |
c
|
MLT014 |
Multiple Spinal Canal and Spinal Cord Meningioma |
6 |
| 1317 |
|
LMB007 |
Lumbar Spinal Canal and Spinal Cord Meningioma |
6 |
| 1318 |
|
SCR007 |
Sacral Spinal Canal and Spinal Cord Meningioma |
6 |
| 1319 |
|
THR008 |
Thoracic Spinal Canal and Spinal Cord Meningioma |
6 |
| 1320 |
|
INT252 |
Intestinal Neuroendocrine Benign Tumor |
6 |
| 1321 |
|
NRN043 |
Neuroendocrine Neoplasm of Esophagus |
6 |
| 1322 |
|
BLT005 |
Bilateral Meningioma of Optic Nerve |
6 |
| 1323 |
|
MLG015 |
Malignant Melanocytic Peripheral Nerve Sheath Tumor of Mediastinum |
6 |
| 1324 |
|
HYP234 |
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response |
5 |
| 1325 |
|
MDS007 |
Mediastinum Neurofibroma |
5 |
| 1326 |
|
SCM002 |
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities |
5 |
| 1327 |
|
PTR009 |
Pterygium Colli Mental Retardation Digital Anomalies |
5 |
| 1328 |
|
DFN009 |
Deafness Hyperuricemia Neurologic Ataxia |
4 |
| 1329 |
|
HRD105 |
Hereditary Sensorimotor Neuropathy with Hyperelastic Skin |
4 |
| 1330 |
|
NRV003 |
Nervous System Hibernoma |
4 |
| 1331 |
|
CRN091 |
Craniosynostosis Alopecia Brain Defect |
4 |
| 1332 |
|
CNG099 |
Congenital Heart Disease Radio Ulnar Synostosis Mental Retardation |
3 |
| 1333 |
|
CRN100 |
Craniosynostosis Mental Retardation Heart Defects |
3 |
| 1334 |
|
PRT057 |
Proteus Like Syndrome Mental Retardation Eye Defect |
3 |
| 1335 |
|
LKM007 |
Leukomelanoderma Mental Redardation Hypotrichosis |
3 |
| 1336 |
|
OST060 |
Osteosclerosis Abnormalities of Nervous System and Meninges |
3 |
| 1337 |
|
EPL007 |
Epilepsy Mental Deterioration Finnish Type |
3 |
| 1338 |
|
CRN064 |
Corneal Dystrophy Ichthyosis Microcephaly Mental Retardation |
3 |
| 1339 |
|
SZR004 |
Seizures Mental Retardation Hair Dysplasia |
3 |
| 1340 |
|
DFN012 |
Deafness Mesenteric Diverticula of Small Bowel Neuropathy |
3 |
| 1341 |
|
DFN018 |
Deafness Peripheral Neuropathy Arterial Disease |
3 |
| 1342 |
|
DFN033 |
Deafness, Neurosensory Nonsyndromic Recessive, Dfn |
3 |
| 1343 |
|
HRD059 |
Hereditary Peripheral Nervous Disorder |
2 |
| 1344 |
|
CHR279 |
Chronic Demyelinizing Neuropathy with Igm Monoclonal |
2 |
| 1345 |
|
FCL024 |
Focal or Multifocal Malformations in Neuronal Migration |
2 |
| 1346 |
|
RTN074 |
Retinopathy Aplastic Anemia Neurological Abnormalities |
2 |
| 1347 |
|
SPN084 |
Spinal Bulbar Motor Neuropathy |
2 |
| 1348 |
|
SPS043 |
Spastic Paraplegia and Distal Muscle Wasting Caused by Neuropathy Target Esterase Gene Mutation |
2 |
| 1349 |
P
|
ATX030 |
Ataxia-Telangiectasia |
79 |
| 1350 |
|
PST028 |
Post-Traumatic Stress Disorder |
58 |
| 1351 |
|
RDC002 |
Radiculopathy |
53 |
| 1352 |
|
ALC028 |
Alacrima, Achalasia, and Mental Retardation Syndrome |
53 |
| 1353 |
P
|
AST007 |
Astrocytoma |
51 |
| 1354 |
c
|
CRB191 |
Cerebral Cavernous Malformations 2 |
49 |
| 1355 |
c
|
ATX040 |
Ataxia-Telangiectasia-Like Disorder 1 |
44 |
| 1356 |
|
NRN002 |
Neuronitis |
41 |
| 1357 |
|
MTH074 |
Methionine Adenosyltransferase I/iii Deficiency |
40 |
| 1358 |
c
|
CHR504 |
Charcot-Marie-Tooth Disease, Type 4b3 |
38 |
| 1359 |
c
|
CRB094 |
Cerebral Cavernous Malformations 3 |
37 |
| 1360 |
c
|
SPS117 |
Spastic Paraplegia 10, Autosomal Dominant |
37 |
| 1361 |
|
ALC011 |
Alcoholic Neuropathy |
31 |
| 1362 |
c
|
HYP716 |
Hypermanganesemia with Dystonia 1 |
28 |
| 1363 |
|
BLB005 |
Beaulieu-Boycott-Innes Syndrome |
26 |
| 1364 |
c
|
EPL185 |
Epileptic Encephalopathy, Early Infantile, 39 |
26 |
| 1365 |
|
PPL060 |
Papillary Glioneuronal Tumors |
26 |
| 1366 |
|
HYP723 |
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 |
24 |
| 1367 |
|
RDL004 |
Radial Neuropathy |
24 |
| 1368 |
|
MNT269 |
Mental Retardation, X-Linked, Syndromic, Bain Type |
21 |
| 1369 |
c
|
ATX041 |
Ataxia-Telangiectasia-Like Disorder 2 |
21 |
| 1370 |
c
|
HYP713 |
Hypermanganesemia with Dystonia 2 |
21 |
| 1371 |
c
|
SPN420 |
Spinocerebellar Ataxia 46 |
21 |
| 1372 |
|
ACT181 |
Acute Motor Axonal Neuropathy |
21 |
| 1373 |
c
|
ENC049 |
Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 |
20 |
| 1374 |
|
HRL006 |
Harel-Yoon Syndrome |
20 |
| 1375 |
c
|
MNT275 |
Mental Retardation, Autosomal Recessive 60 |
20 |
| 1376 |
|
FGS004 |
Fg Syndrome 4 |
19 |
| 1377 |
c
|
JVN001 |
Juvenile Astrocytoma |
19 |
| 1378 |
|
FXL001 |
Foix-Alajouanine Syndrome |
19 |
| 1379 |
|
OKR001 |
Okur-Chung Neurodevelopmental Syndrome |
18 |
| 1380 |
P
|
HYP821 |
Hypermanganesemia with Dystonia |
18 |
| 1381 |
|
CRV067 |
Cervical Neuroblastoma |
18 |
| 1382 |
c
|
MNT271 |
Mental Retardation, X-Linked 61 |
18 |
| 1383 |
|
HYP646 |
Hypomagnesemia, Seizures, and Mental Retardation |
17 |
| 1384 |
|
NRD027 |
Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset |
17 |
| 1385 |
c
|
MNT289 |
Mental Retardation, X-Linked 103 |
17 |
| 1386 |
|
SBN004 |
Sabinas Brittle Hair Syndrome |
16 |
| 1387 |
c
|
MNT267 |
Mental Retardation, X-Linked 104 |
15 |
| 1388 |
|
NRD039 |
Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language |
15 |
| 1389 |
|
ATX047 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation |
14 |
| 1390 |
c
|
MNT274 |
Mental Retardation, X-Linked 105 |
14 |
| 1391 |
|
NRD044 |
Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features |
14 |
| 1392 |
|
NRD037 |
Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies |
14 |
| 1393 |
|
INT311 |
Intellectual Developmental Disorder with Neuropsychiatric Features |
13 |
| 1394 |
|
MYP122 |
Myopathy, Congenital, with Neuropathy and Deafness |
13 |
| 1395 |
|
MNT306 |
Mental Retardation, X-Linked, Syndromic, Houge Type |
12 |
| 1396 |
|
CLF027 |
Cleft Palate, Isolated |
63 |
| 1397 |
P
|
MTR004 |
Maturity-Onset Diabetes of the Young |
60 |
| 1398 |
|
SMT006 |
Somatoform Disorder |
55 |
| 1399 |
P
|
EPN002 |
Ependymoma |
55 |
| 1400 |
c
|
MLG064 |
Malignant Ependymoma |
45 |
| 1401 |
|
STL001 |
St. Louis Encephalitis |
43 |
| 1402 |
c
|
MTR019 |
Maturity-Onset Diabetes of the Young, Type 2 |
43 |
| 1403 |
c
|
MTR020 |
Maturity-Onset Diabetes of the Young, Type 3 |
41 |
| 1404 |
|
DPR002 |
Depersonalization Disorder |
36 |
| 1405 |
c
|
CNG191 |
Congenital Disorder of Glycosylation, Type Iia |
36 |
| 1406 |
c
|
BNG030 |
Benign Ependymoma |
33 |
| 1407 |
c
|
MTR044 |
Maturity-Onset Diabetes of the Young, Type 10 |
29 |
| 1408 |
c
|
MTR018 |
Maturity-Onset Diabetes of the Young, Type 1 |
27 |
| 1409 |
c
|
MTR023 |
Maturity-Onset Diabetes of the Young, Type 6 |
26 |
| 1410 |
|
PLY052 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract |
26 |
| 1411 |
|
RCH010 |
Richieri-Costa/guion-Almeida Syndrome |
25 |
| 1412 |
c
|
STR092 |
Striatal Degeneration, Autosomal Dominant 2 |
25 |
| 1413 |
|
RTR023 |
Retroperitoneal Neuroblastoma |
25 |
| 1414 |
|
JWD001 |
Jawad Syndrome |
24 |
| 1415 |
|
CRB196 |
Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome |
24 |
| 1416 |
c
|
MNT287 |
Mental Retardation, Autosomal Recessive 57 |
24 |
| 1417 |
|
ART103 |
Arthrogryposis, Mental Retardation, and Seizures |
23 |
| 1418 |
P
|
STR101 |
Striatal Degeneration, Autosomal Dominant 1 |
22 |
| 1419 |
|
SFR001 |
Sifrim-Hitz-Weiss Syndrome |
22 |
| 1420 |
|
ICH043 |
Ichthyosis, Spastic Quadriplegia, and Mental Retardation |
22 |
| 1421 |
c
|
MNT282 |
Mental Retardation, Autosomal Recessive 55 |
22 |
| 1422 |
c
|
ATM089 |
Autoimmune Neuropathy |
22 |
| 1423 |
|
BRN134 |
Brain Malformations with or Without Urinary Tract Defects |
22 |
| 1424 |
|
CMB002 |
Combat Disorder |
22 |
| 1425 |
|
IMM146 |
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities |
22 |
| 1426 |
c
|
MTR021 |
Maturity-Onset Diabetes of the Young, Type 4 |
22 |
| 1427 |
c
|
MTR039 |
Maturity-Onset Diabetes of the Young, Type 11 |
21 |
| 1428 |
c
|
MNT285 |
Mental Retardation, Autosomal Recessive 58 |
21 |
| 1429 |
c
|
MLG023 |
Malignant Adult Ependymoma |
20 |
| 1430 |
|
GNC005 |
Geniculate Ganglionitis |
20 |
| 1431 |
|
CLF050 |
Cleft Palate, Cardiac Defects, and Mental Retardation |
20 |
| 1432 |
c
|
MTR075 |
Maturity-Onset Diabetes of the Young, Type 13 |
19 |
| 1433 |
|
CLB021 |
Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation |
19 |
| 1434 |
c
|
MNT263 |
Mental Retardation, Autosomal Recessive 51 |
19 |
| 1435 |
|
CRB158 |
Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome |
19 |
| 1436 |
c
|
MTR024 |
Maturity-Onset Diabetes of the Young, Type 7 |
18 |
| 1437 |
c
|
MNT197 |
Mental Retardation, X-Linked, Syndromic 9 |
18 |
| 1438 |
P
|
NRN029 |
Neuronal Intestinal Dysplasia |
18 |
| 1439 |
c
|
MTR074 |
Maturity-Onset Diabetes of the Young, Type 14 |
18 |
| 1440 |
c
|
ATM007 |
Autoimmune Disease of Central Nervous System |
18 |
| 1441 |
c
|
MNT277 |
Mental Retardation, Autosomal Recessive 54 |
18 |
| 1442 |
c
|
MTR026 |
Maturity-Onset Diabetes of the Young, Type 9 |
18 |
| 1443 |
c
|
MNT281 |
Mental Retardation, Autosomal Recessive 59 |
18 |
| 1444 |
c
|
MNT284 |
Mental Retardation, Autosomal Recessive 56 |
17 |
| 1445 |
|
MNT118 |
Mental Retardation, Anterior Maxillary Protrusion, and Strabismus |
17 |
| 1446 |
|
NRD036 |
Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures |
16 |
| 1447 |
|
SPN409 |
Spongiform Encephalopathy with Neuropsychiatric Features |
16 |
| 1448 |
|
PRN006 |
Parenchymatous Neurosyphilis |
15 |
| 1449 |
|
NRD025 |
Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations |
14 |
| 1450 |
|
NRS002 |
Neuroaspergillosis |
13 |
| 1451 |
|
NRD043 |
Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities |
13 |
| 1452 |
c
|
CSK002 |
Cask-Related Intellectual Disability |
12 |
| 1453 |
|
NRD035 |
Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures |
12 |
| 1454 |
|
MNT331 |
Mental Retardation, Autosomal Dominant 55, with Seizures |
12 |
| 1455 |
c
|
GNT045 |
Giant Axonal Neuropathy 2 |
11 |
| 1456 |
c
|
SYN073 |
Syngap1-Related Intellectual Disability |
11 |
| 1457 |
|
CNT002 |
Central Nervous System Angiosarcoma |
9 |
| 1458 |
c
|
DYR001 |
Dyrk1a-Related Intellectual Disability Syndrome |
9 |
| 1459 |
c
|
PPP001 |
Ppp2r5d-Related Intellectual Disability |
8 |
| 1460 |
c
|
ATS360 |
Autosomal Recessive Intellectual Disability 58 |
7 |
| 1461 |
c
|
INT307 |
Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation |
7 |
| 1462 |
c
|
TRR002 |
Trio-Related Intellectual Disability |
7 |
| 1463 |
c
|
WCR002 |
Wac-Related Intellectual Disability |
7 |
| 1464 |
c
|
SN3001 |
Sin3a-Related Intellectual Disability Syndrome |
6 |
| 1465 |
P
|
ATS403 |
Autosomal Dominant Intellectual Disability 40 |
6 |
| 1466 |
c
|
ATS348 |
Autosomal Dominant Intellectual Disability 30 |
6 |
| 1467 |
|
BRN116 |
Brain Stem Medulloblastoma |
6 |
| 1468 |
|
SML035 |
Small Intestine Carcinoid Neuroendocrine Tumor |
5 |
| 1469 |
c
|
ACS002 |
Acsl4-Related Intellectual Disability |
4 |
| 1470 |
c
|
ARX002 |
Arx-Related Intellectual Disability |
4 |
| 1471 |
c
|
DDX001 |
Ddx3x-Related Intellectual Disability |
4 |
| 1472 |
P
|
OLG002 |
Oligodendroglioma |
59 |
| 1473 |
|
MNT002 |
Mental Depression |
57 |
| 1474 |
c
|
ADL023 |
Adult Medulloblastoma |
54 |
| 1475 |
P
|
DBT005 |
Diabetes Insipidus |
54 |
| 1476 |
c
|
CHR283 |
Chronic Inflammatory Demyelinating Polyneuropathy |
52 |
| 1477 |
|
NRR001 |
Neuroretinitis |
46 |
| 1478 |
P
|
DMY001 |
Demyelinating Polyneuropathy |
46 |
| 1479 |
|
HYP016 |
Hypochondriasis |
42 |
| 1480 |
|
SCT001 |
Sciatic Neuropathy |
42 |
| 1481 |
|
CRB002 |
Cerebral Primitive Neuroectodermal Tumor |
39 |
| 1482 |
P
|
CNT036 |
Central Nervous System Germ Cell Tumor |
38 |
| 1483 |
P
|
AXN001 |
Axonal Neuropathy |
38 |
| 1484 |
c
|
ADL008 |
Adult Oligodendroglioma |
38 |
| 1485 |
|
LRG014 |
Large Cell Neuroendocrine Carcinoma |
37 |
| 1486 |
|
NRD001 |
Neurodermatitis |
37 |
| 1487 |
|
THY108 |
Thymic Neuroendocrine Tumor |
36 |
| 1488 |
|
CRB022 |
Cerebellar Liponeurocytoma |
36 |
| 1489 |
|
DFF012 |
Differentiating Neuroblastoma |
35 |
| 1490 |
|
MXD026 |
Mixed Glioma |
35 |
| 1491 |
|
BRN137 |
Bronchial Neuroendocrine Tumor |
33 |
| 1492 |
|
MDN002 |
Median Neuropathy |
32 |
| 1493 |
|
DFF029 |
Diffuse Large B-Cell Lymphoma of the Central Nervous System |
31 |
| 1494 |
c
|
ATS314 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
31 |
| 1495 |
|
ART110 |
Arteritic Anterior Ischemic Optic Neuropathy |
31 |
| 1496 |
|
DDN005 |
Duodenal Somatostatinoma |
31 |
| 1497 |
|
CLB026 |
Colobomatous Microphthalmia |
30 |
| 1498 |
c
|
HNT011 |
Huntington Disease-Like 3 |
30 |
| 1499 |
|
NRG001 |
Neurogenic Bowel |
29 |
| 1500 |
|
ATY004 |
Atypical Neurofibroma |
28 |
| 1501 |
|
HGH001 |
High Pressure Neurological Syndrome |
28 |
| 1502 |
|
MGL033 |
Megalocornea-Mental Retardation Syndrome |
28 |
| 1503 |
|
NRG005 |
Neurogenic Hypertension |
28 |
| 1504 |
|
GRN006 |
Granulomatous Angiitis |
26 |
| 1505 |
|
DRG004 |
Drug-Induced Mental Disorder |
26 |
| 1506 |
|
EXT044 |
Extraventricular Neurocytoma |
26 |
| 1507 |
|
HYP629 |
Hyperphosphatasia-Intellectual Disability Syndrome |
25 |
| 1508 |
c
|
SYN078 |
Syndromic X-Linked Intellectual Disability Type 10 |
24 |
| 1509 |
|
TXC008 |
Toxic Optic Neuropathy |
24 |
| 1510 |
|
CNT043 |
Central Nervous System Organ Benign Neoplasm |
23 |
| 1511 |
|
CLL006 |
Cellular Neurofibroma |
23 |
| 1512 |
c
|
MCR259 |
Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 |
23 |
| 1513 |
P
|
CHR453 |
Charcot-Marie-Tooth Hereditary Neuropathy |
23 |
| 1514 |
|
CNT042 |
Central Nervous System Mesenchymal Non-Meningothelial Tumor |
23 |
| 1515 |
|
ALC013 |
Alcohol-Induced Mental Disorder |
23 |
| 1516 |
|
MDR006 |
Moderate and Severe Traumatic Brain Injury |
23 |
| 1517 |
|
NRP027 |
Neuropathy, Painful |
23 |
| 1518 |
|
CRB169 |
Cerebellar Atrophy, Developmental Delay, and Seizures |
22 |
| 1519 |
|
BRN034 |
Brain Meningioma |
22 |
| 1520 |
|
CNT017 |
Central Nervous System Origin Vertigo |
22 |
| 1521 |
P
|
SYN064 |
Syndromic X-Linked Intellectual Disability |
22 |
| 1522 |
c
|
MNT181 |
Mental Retardation, Autosomal Recessive 35 |
22 |
| 1523 |
c
|
GST091 |
Gastrointestinal Neuroendocrine Benign Tumor |
22 |
| 1524 |
c
|
MCR244 |
Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 |
21 |
| 1525 |
|
ALP085 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
21 |
| 1526 |
|
MNT256 |
Mental Retardation, Buenos Aires Type |
21 |
| 1527 |
|
YHV001 |
You-Hoover-Fong Syndrome |
21 |
| 1528 |
c
|
MCR272 |
Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 |
20 |
| 1529 |
|
SPN368 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
20 |
| 1530 |
|
MLT146 |
Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism |
20 |
| 1531 |
P
|
SPN039 |
Spinal Canal and Spinal Cord Meningioma |
20 |
| 1532 |
|
MLT011 |
Multiple Mucosal Neuroma |
20 |
| 1533 |
|
NNS032 |
Non-Syndromic X-Linked Intellectual Disability |
20 |
| 1534 |
|
TBL027 |
Tubulinopathy-Associated Dysgyria |
20 |
| 1535 |
|
URM001 |
Uremic Neuropathy |
19 |
| 1536 |
|
KNN010 |
Kennerknecht Syndrome |
19 |
| 1537 |
c
|
MNT162 |
Mental Retardation, Autosomal Recessive 24 |
19 |
| 1538 |
|
ECT090 |
Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum |
19 |
| 1539 |
c
|
MNT163 |
Mental Retardation, Autosomal Recessive 30 |
19 |
| 1540 |
|
PTR028 |
Pterygia, Mental Retardation, and Distinctive Craniofacial Features |
19 |
| 1541 |
c
|
MNT172 |
Mental Retardation, Autosomal Recessive 25 |
18 |
| 1542 |
|
CGN005 |
Cognitive Impairment with or Without Cerebellar Ataxia |
18 |
| 1543 |
c
|
MNT167 |
Mental Retardation, Autosomal Recessive 16 |
18 |
| 1544 |
|
CHR397 |
Chromosome Xp11.3 Deletion Syndrome |
18 |
| 1545 |
|
HYP688 |
Hypospadias-Mental Retardation Syndrome |
18 |
| 1546 |
c
|
MNT165 |
Mental Retardation, Autosomal Recessive 28 |
18 |
| 1547 |
c
|
MNT180 |
Mental Retardation, Autosomal Recessive 33 |
18 |
| 1548 |
P
|
NMN012 |
Niemann-Pick Disease Type C, Juvenile Neurologic Onset |
18 |
| 1549 |
|
MNT251 |
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face |
18 |
| 1550 |
|
ARL006 |
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation |
18 |
| 1551 |
c
|
MNT182 |
Mental Retardation, Autosomal Recessive 19 |
18 |
| 1552 |
|
SPN344 |
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation |
18 |
| 1553 |
|
BRC121 |
Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation |
18 |
| 1554 |
|
BRN112 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
18 |
| 1555 |
|
NRN023 |
Neuroendocrine Cell Hyperplasia of Infancy |
18 |
| 1556 |
|
INF036 |
Inflammatory and Toxic Neuropathy |
17 |
| 1557 |
|
CBT001 |
Cubitus Valgus with Mental Retardation and Unusual Facies |
17 |
| 1558 |
c
|
MNT170 |
Mental Retardation, Autosomal Recessive 23 |
17 |
| 1559 |
c
|
HRD156 |
Hereditary Central Diabetes Insipidus |
17 |
| 1560 |
|
EXT008 |
Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor |
17 |
| 1561 |
|
SDM003 |
Sodium Channelopathy-Related Small Fiber Neuropathy |
17 |
| 1562 |
c
|
NMN009 |
Niemann-Pick Disease Type C, Late Infantile Neurologic Onset |
17 |
| 1563 |
c
|
NMN010 |
Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset |
17 |
| 1564 |
c
|
NMN011 |
Niemann-Pick Disease Type C, Adult Neurologic Onset |
17 |
| 1565 |
|
SPS226 |
Spastic Paraplegia, Ataxia, and Mental Retardation |
17 |
| 1567 |
|
DND020 |
Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy |
17 |
| 1568 |
|
MNT253 |
Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis |
17 |
| 1569 |
|
SKL027 |
Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal |
17 |
| 1570 |
|
NNP016 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy |
17 |
| 1571 |
c
|
MNT161 |
Mental Retardation, Autosomal Recessive 29 |
17 |
| 1572 |
c
|
CHR139 |
Charcot-Marie-Tooth Disease Type 2c |
17 |
| 1573 |
|
CHM001 |
Cahmr Syndrome |
17 |
| 1574 |
c
|
MNT160 |
Mental Retardation, Autosomal Recessive 31 |
16 |
| 1575 |
|
INT298 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
16 |
| 1576 |
|
BRN122 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
16 |
| 1577 |
c
|
NRN038 |
Neuronal Intestinal Dysplasia, Type B |
16 |
| 1578 |
|
ALP090 |
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism |
16 |
| 1579 |
c
|
SYN056 |
Syndromic X-Linked Intellectual Disability 7 |
16 |
| 1580 |
c
|
MNT247 |
Mental Retardation, X-Linked 73 |
16 |
| 1581 |
|
HRD035 |
Hair Defect with Photosensitivity and Mental Retardation |
16 |
| 1582 |
|
PRD033 |
Periodic Paralysis with Later-Onset Distal Motor Neuropathy |
16 |
| 1583 |
|
ICH065 |
Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation |
16 |
| 1584 |
|
ART029 |
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation |
15 |
| 1585 |
|
NRL001 |
Neurilemmoma of the Fifth Cranial Nerve |
15 |
| 1586 |
|
MNT030 |
Mental Retardation Syndrome, Belgian Type |
15 |
| 1587 |
|
OPH013 |
Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency |
15 |
| 1588 |
|
EHL082 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
15 |
| 1589 |
|
SPS195 |
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation |
15 |
| 1590 |
|
CHR580 |
Choroid Plexus Calcification and Mental Retardation |
15 |
| 1591 |
c
|
ACQ034 |
Acquired Central Diabetes Insipidus |
15 |
| 1592 |
|
MNT255 |
Mental Retardation and Psoriasis |
15 |
| 1593 |
|
CCH008 |
Cochlear Nerve Deficiency |
15 |
| 1594 |
|
GRW038 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy |
15 |
| 1595 |
|
ECT104 |
Ectodermal Dysplasia with Mental Retardation and Syndactyly |
15 |
| 1596 |
|
CRN103 |
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig |
15 |
| 1597 |
|
MRF017 |
Marfanoid Mental Retardation Syndrome, Autosomal |
15 |
| 1598 |
|
ADL042 |
Adult Malignant Schwannoma |
15 |
| 1599 |
|
CHL033 |
Childhood Malignant Schwannoma |
15 |
| 1600 |
c
|
SYN082 |
Syndromic X-Linked Intellectual Disability 14 |
15 |
| 1601 |
|
PLT021 |
Pili Torti and Developmental Delay |
14 |
| 1602 |
c
|
MNT194 |
Mental Retardation, X-Linked 50 |
14 |
| 1603 |
|
CTS046 |
Cutis Verticis Gyrata and Mental Retardation |
14 |
| 1604 |
c
|
CHR550 |
Charcot-Marie-Tooth Disease Type 2n |
14 |
| 1605 |
|
MNT315 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism |
14 |
| 1606 |
c
|
SPR105 |
Sporadic Fetal Brain Disruption Sequence |
14 |
| 1607 |
|
ACT235 |
Acute Macular Neuroretinopathy |
14 |
| 1608 |
|
NRN032 |
Neuroendocrine Tumor of Anal Canal |
14 |
| 1609 |
|
ACT236 |
Acute Motor and Sensory Axonal Neuropathy |
14 |
| 1610 |
|
ACT161 |
Acute Pandysautonomia |
14 |
| 1611 |
|
GLL034 |
Gallbladder Neuroendocrine Tumor |
14 |
| 1612 |
|
CHL027 |
Childhood Central Nervous System Germinoma |
14 |
| 1613 |
|
CHL046 |
Childhood Central Nervous System Mixed Germ Cell Tumor |
14 |
| 1614 |
|
SYN079 |
Syndromic X-Linked Intellectual Disability Siderius Type |
14 |
| 1615 |
|
NTR002 |
Nutritional Optic Neuropathy |
14 |
| 1616 |
|
RVN001 |
Ravine Syndrome |
14 |
| 1617 |
|
EXT024 |
Extracranial Neuroblastoma |
14 |
| 1618 |
|
THY092 |
Thymic Neuroendocrine Carcinoma |
13 |
| 1619 |
|
STR102 |
Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Features |
13 |
| 1620 |
|
HRS040 |
Hirsutism, Skeletal Dysplasia, and Mental Retardation |
13 |
| 1621 |
|
SPS194 |
Spastic Paresis, Glaucoma, and Mental Retardation |
13 |
| 1622 |
|
DWR021 |
Dwarfism, Mental Retardation, and Eye Abnormality |
13 |
| 1623 |
|
MNT039 |
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block |
13 |
| 1624 |
|
ACT162 |
Acute Sensory Ataxic Neuropathy |
13 |
| 1625 |
|
INF124 |
Infundibulo-Neurohypophysitis |
13 |
| 1626 |
|
CHR628 |
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type |
13 |
| 1627 |
|
PRK068 |
Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments |
13 |
| 1628 |
|
CRM012 |
Cree Mental Retardation Syndrome |
13 |
| 1629 |
|
HYP816 |
Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes |
13 |
| 1630 |
|
XLN204 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
13 |
| 1631 |
|
MBS006 |
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome |
13 |
| 1632 |
|
MNT250 |
Mental Retardation with Spastic Paraplegia |
13 |
| 1633 |
|
MNT316 |
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature |
13 |
| 1634 |
|
NRL021 |
Neurologic Disease, Infantile Multisystem, with Osseous Fragility |
12 |
| 1635 |
|
MND028 |
Mandibulofacial Dysostosis with Mental Retardation |
12 |
| 1636 |
|
DFN340 |
Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease |
12 |
| 1637 |
|
NRD046 |
Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities |
12 |
| 1638 |
c
|
SBC037 |
Subacute Inflammatory Demyelinating Polyneuropathy |
12 |
| 1639 |
c
|
MNT333 |
Mental Retardation, X-Linked 107 |
12 |
| 1640 |
|
SCL044 |
Scalp Syndrome |
12 |
| 1641 |
|
SPS193 |
Spastic Paraplegia, Epilepsy, and Mental Retardation |
12 |
| 1642 |
|
MTR081 |
Motor Neuron Disease with Dementia and Ophthalmoplegia |
12 |
| 1643 |
|
MDN009 |
Median-Ulnar Nerve Communications |
12 |
| 1644 |
c
|
CHR553 |
Charcot-Marie-Tooth Disease Type 2q |
12 |
| 1645 |
|
FCL076 |
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation |
12 |
| 1646 |
|
CTR179 |
Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy |
12 |
| 1647 |
|
NDL022 |
Nodular Neuronal Heterotopia |
12 |
| 1648 |
|
MSC159 |
Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers |
11 |
| 1649 |
|
CRB178 |
Cerebellar Ataxia and Neurosensory Deafness |
11 |
| 1650 |
c
|
ALP075 |
Alopecia-Mental Retardation Syndrome 2 |
11 |
| 1651 |
c
|
DST092 |
Distal Hereditary Motor Neuropathy Type 7 |
11 |
| 1652 |
|
SPN388 |
Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy |
11 |
| 1653 |
|
ART149 |
Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies |
11 |
| 1654 |
c
|
MNT205 |
Mental Retardation, X-Linked 42 |
11 |
| 1655 |
|
PRN067 |
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness |
11 |
| 1656 |
|
ART055 |
Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies |
11 |
| 1657 |
c
|
CHR551 |
Charcot-Marie-Tooth Disease Type 2o |
11 |
| 1658 |
|
MDD017 |
Middle Ear Neuroendocrine Tumor |
11 |
| 1659 |
|
AMY015 |
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation |
11 |
| 1660 |
|
NRN039 |
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia |
11 |
| 1661 |
|
LRY052 |
Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy |
11 |
| 1662 |
|
NRD045 |
Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills |
11 |
| 1663 |
|
SPT020 |
Spatial Visualization, Aptitude for |
11 |
| 1664 |
|
XLN092 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
11 |
| 1665 |
|
VTL010 |
Vitiligo, Progressive, with Mental Retardation and Urethral Duplication |
11 |
| 1666 |
c
|
PRM246 |
Primary Tethered Cord Syndrome |
10 |
| 1667 |
|
SPN396 |
Spinal Muscular Atrophy with Mental Retardation |
10 |
| 1668 |
|
NRP050 |
Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance |
10 |
| 1669 |
|
NRP061 |
Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia |
10 |
| 1670 |
c
|
ALP063 |
Alopecia-Mental Retardation Syndrome 3 |
10 |
| 1671 |
|
EPT006 |
Epithelioid Neurofibroma |
10 |
| 1672 |
|
CTS047 |
Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation |
10 |
| 1673 |
|
HYP783 |
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly |
10 |
| 1674 |
c
|
CHR571 |
Charcot-Marie-Tooth Disease Type 5 |
10 |
| 1675 |
|
XLN091 |
X-Linked Neurodegenerative Syndrome, Hamel Type |
10 |
| 1676 |
|
SPN397 |
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality |
10 |
| 1677 |
|
OPT029 |
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant |
10 |
| 1678 |
|
MNT299 |
Mental and Growth Retardation with Amblyopia |
10 |
| 1679 |
|
LNT009 |
Lentiginosis, Centrofacial Neurodysraphic |
10 |
| 1680 |
|
MLG153 |
Malignant Peripheral Nerve Sheath Tumor with Perineurial Differentiation |
9 |
| 1681 |
c
|
ADL041 |
Adult Spinal Cord Ependymoma |
9 |
| 1682 |
|
MSC144 |
Muscular Atrophy, Malignant Neurogenic |
9 |
| 1683 |
|
OHD002 |
Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant |
9 |
| 1684 |
|
PRP018 |
Peripheral Nerve Schwannoma |
9 |
| 1685 |
|
NRP052 |
Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine |
9 |
| 1686 |
|
EPL197 |
Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation |
9 |
| 1687 |
|
MYL068 |
Myelinated Optic Nerve Fibers |
9 |
| 1688 |
|
ATS387 |
Autosomal Dominant Non-Syndromic Intellectual Disability 5 |
9 |
| 1689 |
P
|
CRN291 |
Cranial Nerves, Recurrent Paresis of |
9 |
| 1690 |
|
IND013 |
Indolylacroyl Glycinuria with Mental Retardation |
9 |
| 1691 |
|
SCR041 |
Sucrosuria, Hiatus Hernia and Mental Retardation |
9 |
| 1692 |
|
TBL001 |
Tibial Nerve Palsy |
9 |
| 1693 |
|
DSL004 |
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation |
9 |
| 1694 |
|
RCR030 |
Recurrent Idiopathic Neuroretinitis |
9 |
| 1695 |
|
OPH019 |
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria |
8 |
| 1696 |
|
OHD001 |
Ohdo Syndrome, Maat-Kievit-Brunner Type |
8 |
| 1697 |
|
PSD115 |
Pseudouridinuria and Mental Defect |
8 |
| 1698 |
|
IDP004 |
Idiopathic Peripheral Autonomic Neuropathy |
8 |
| 1699 |
|
NRF004 |
Neurofibroma of the Esophagus |
8 |
| 1700 |
|
PCN001 |
Pacinian Tumor |
8 |
| 1701 |
|
JJN001 |
Jejunal Somatostatinoma |
8 |
| 1702 |
|
GLS003 |
Glossopharyngeal Nerve Paralysis |
8 |
| 1703 |
|
SYN091 |
Syndromic X-Linked Intellectual Disability Nascimento Type |
8 |
| 1704 |
c
|
CHR121 |
Charcot-Marie-Tooth Neuropathy X Type 5 |
8 |
| 1705 |
|
HYP778 |
Hypertrophic Neuropathy and Cataract |
8 |
| 1706 |
c
|
ATS394 |
Autosomal Dominant Mental Retardation 55 |
8 |
| 1707 |
c
|
ATS395 |
Autosomal Dominant Mental Retardation 61 |
8 |
| 1708 |
c
|
CRN290 |
Cranial Nerves, Congenital Paresis of |
8 |
| 1709 |
|
NRD020 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome Due to 9q21 Microdeletion |
8 |
| 1710 |
|
MDF003 |
Modifier, X-Linked, for Neurofunctional Defects |
8 |
| 1711 |
c
|
SYN077 |
Syndromic X-Linked Intellectual Disability 12 |
8 |
| 1712 |
c
|
CHR315 |
Charcot-Marie-Tooth Neuropathy Type 4j |
8 |
| 1713 |
|
CMM002 |
Common Peroneal Nerve Lesion |
7 |
| 1714 |
|
CNT021 |
Central Nervous System Rhabdomyosarcoma |
7 |
| 1715 |
|
HYP797 |
Hypotonia, Congenital Nystagmus, Ataxia, and Abnormal Auditory Brainstem Responses |
7 |
| 1716 |
|
ATS383 |
Autosomal Dominant Non-Syndromic Intellectual Disability 1 |
7 |
| 1717 |
|
ATS390 |
Autosomal Dominant Non-Syndromic Intellectual Disability 9 |
7 |
| 1718 |
|
CRV015 |
Cervical Large Cell Neuroendocrine Carcinoma |
7 |
| 1719 |
|
PRP089 |
Prp Systemic Amyloidosis |
7 |
| 1720 |
|
NRV014 |
Neurovisceral Storage Disease with Curvilinear Bodies |
7 |
| 1721 |
|
CNT027 |
Central Nervous System Fibrosarcoma |
7 |
| 1722 |
P
|
CNT039 |
Central Nervous System Immature Teratoma |
7 |
| 1723 |
P
|
CNT040 |
Central Nervous System Mature Teratoma |
7 |
| 1724 |
|
ASY004 |
Asymmetric Motor Neuropathy |
7 |
| 1725 |
|
SVR052 |
Severe Early-Onset Axonal Neuropathy Due to Mfn2 Deficiency |
7 |
| 1726 |
|
CRT047 |
Creatine Kinase, Brain Type, Ectopic Expression of |
7 |
| 1727 |
|
MCR344 |
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation |
7 |
| 1728 |
|
NRH002 |
Neurohypophysis Granular Cell Tumor |
7 |
| 1729 |
|
INF132 |
Infantile Osteopetrosis with Neuroaxonal Dysplasia |
7 |
| 1730 |
|
ATS384 |
Autosomal Dominant Non-Syndromic Intellectual Disability 2 |
6 |
| 1731 |
|
ATS385 |
Autosomal Dominant Non-Syndromic Intellectual Disability 3 |
6 |
| 1732 |
|
ATS386 |
Autosomal Dominant Non-Syndromic Intellectual Disability 4 |
6 |
| 1733 |
|
HRD175 |
Hereditary Motor and Sensory Neuropathy with Acrodystrophy |
6 |
| 1734 |
|
CMB029 |
Combined Hyperactive Dysfunction Syndrome of the Cranial Nerves |
6 |
| 1735 |
|
PRP020 |
Peripheral Nervous System Ganglioneuroblastoma |
6 |
| 1736 |
|
NNT034 |
Neonatal Brainstem Dysfunction |
6 |
| 1737 |
|
BRS024 |
Breast Large Cell Neuroendocrine Carcinoma |
6 |
| 1738 |
|
NRV013 |
Nerve Growth Factor, Alpha Subunit |
6 |
| 1739 |
|
CNT014 |
Central Nervous System Osteosarcoma |
6 |
| 1740 |
c
|
MCR282 |
Microcephaly and Chorioretinopathy 1 |
6 |
| 1741 |
c
|
MCR283 |
Microcephaly and Chorioretinopathy 2 |
6 |
| 1742 |
c
|
MCR284 |
Microcephaly and Chorioretinopathy 3 |
6 |
| 1743 |
|
EXT057 |
Extensive Peripapillary Myelinated Nerve Fibers |
6 |
| 1744 |
|
CNT030 |
Central Nervous System Leiomyosarcoma |
6 |
| 1745 |
|
CNT034 |
Central Nervous System Childhood Germ Cell Tumor |
6 |
| 1746 |
|
NRV005 |
Nerve Plexus Neoplasm |
6 |
| 1747 |
|
EMP013 |
Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation |
6 |
| 1748 |
|
ACT163 |
Acute Pure Sensory Neuropathy |
6 |
| 1749 |
|
NRT003 |
Neurotrophic Keratoconjunctivitis |
6 |
| 1750 |
|
ATS077 |
Autosomal Dominant Optic Atrophy and Peripheral Neuropathy |
5 |
| 1751 |
|
NRP028 |
Neuropathy with Hearing Impairment |
5 |
| 1752 |
|
CNT012 |
Central Nervous System Chondroma |
5 |
| 1753 |
c
|
CNT032 |
Central Nervous System Adult Germ Cell Tumor |
5 |
| 1754 |
|
MLN006 |
Melanocytic Psammomatous Mpnst |
5 |
| 1755 |
c
|
ADL040 |
Adult Brain Ependymoma |
5 |
| 1756 |
|
FBL015 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
5 |
| 1757 |
|
INF150 |
Infantile Spams-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
5 |
| 1758 |
|
FBR095 |
Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation |
5 |
| 1759 |
|
ANM047 |
Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/mental Retardation Syndrome |
5 |
| 1760 |
|
MNT314 |
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations |
5 |
| 1761 |
|
MCR342 |
Microcephaly, Macrotia, and Mental Retardation |
5 |
| 1762 |
|
SHR110 |
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting |
5 |
| 1763 |
|
FTL051 |
Fatal Post-Viral Neurodegenerative Disorder |
5 |
| 1764 |
|
PRL043 |
Poorly Differentiated Thymic Neuroendocrine Carcinoma |
5 |
| 1765 |
|
NRP056 |
Neuropathy, Hereditary Motor and Sensory, with Excessive Myelin Folding Complex, Autosomal Recessive |
5 |
| 1766 |
|
MDR005 |
Moderately-Differentiated Thymic Neuroendocrine Carcinoma |
5 |
| 1767 |
|
WLL020 |
Well-Differentiated Thymic Neuroendocrine Carcinoma |
5 |
| 1768 |
c
|
ADL029 |
Adult Central Nervous System Mixed Germ Cell Tumor |
5 |
| 1769 |
|
CNT103 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
5 |
| 1770 |
|
ATS093 |
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease with Neuropathic Pain |
5 |
| 1771 |
P
|
MXD039 |
Mixed Germ Cell Tumor of Central Nervous System |
5 |
| 1772 |
|
FML335 |
Familial Gastric Type 1 Neuroendocrine Tumor |
5 |
| 1773 |
|
CHL019 |
Childhood Central Nervous System Immature Teratoma |
4 |
| 1774 |
|
CHL047 |
Childhood Central Nervous System Mature Teratoma |
4 |
| 1775 |
c
|
ADL011 |
Adult Central Nervous System Mature Teratoma |
4 |
| 1776 |
c
|
ADL012 |
Adult Central Nervous System Immature Teratoma |
4 |
| 1777 |
|
CHL106 |
Childhood Ataxia with Central Nervous System Hypomyelination/vanishing White Matter |
4 |
| 1778 |
|
GLT033 |
Glutamic Acid Decarboxylase, Brain, Membrane Form |
4 |
| 1779 |
c
|
CHR116 |
Charcot-Marie-Tooth Neuropathy Type 2e/1f |
4 |
| 1780 |
|
GRS004 |
Gars-Associated Axonal Neuropathy |
4 |
| 1781 |
|
GLS006 |
Glossopharyngeal Motor Neuropathy |
4 |
| 1782 |
c
|
CHR461 |
Choriocarcinoma of the Central Nervous System |
4 |
| 1783 |
|
HMN006 |
Hemangioma of Peripheral Nerve |
4 |
| 1784 |
|
ATS357 |
Autosomal Dominant Distal Axonal Motor Neuropathy-Myofibrillar Myopathy Syndrome |
4 |
| 1785 |
|
NRG007 |
Neurogenic Palpebral Tumor |
4 |
| 1786 |
|
MCR298 |
Microcephaly-Complex Motor and Sensory Axonal Neuropathy Syndrome |
4 |
| 1787 |
c
|
MCR048 |
Microcephaly Chorioretinopathy Recessive Form |
4 |
| 1788 |
c
|
MCR059 |
Microcephaly with Chorioretinopathy, Autosomal Dominant Form |
4 |
| 1789 |
P
|
CHR168 |
Chorioretinopathy Dominant Form Microcephaly |
4 |
| 1790 |
|
SYN094 |
Syndromic X-Linked Mental Retardation Hough Type |
3 |
| 1791 |
c
|
HRD062 |
Hereditary Type 1 Neuropathy |
3 |
| 1792 |
c
|
HRD063 |
Hereditary Type 2 Neuropathy |
3 |
| 1793 |
|
MNT020 |
Mental Retardation Macrocephaly Coarse Facies Hypotonia |
3 |
| 1794 |
c
|
CHD006 |
Chd2-Related Neurodevelopmental Disorders |
3 |
| 1795 |
P
|
GRN052 |
Grin2b-Related Neurodevelopmental Disorder |
3 |
| 1796 |
c
|
PRR032 |
Pura-Related Neurodevelopmental Disorders |
3 |
| 1797 |
|
NRM007 |
Neuroma Biliary Tract |
2 |
| 1798 |
|
NRN007 |
Neuronal Interstitial Dysplasia |
2 |
| 1799 |
|
BSC002 |
Bscl2-Related Neurologic Disorders/seipinopathy |
2 |
| 1800 |
|
ALK018 |
Alk-Related Neuroblastic Tumor Susceptibility |
1 |
| 1801 |
|
ATP015 |
Atp1a3-Related Neurologic Disorders |
1 |
| 1802 |
|
STR067 |
Stroke, Ischemic |
82 |
| 1803 |
P
|
PRK057 |
Parkinson Disease, Late-Onset |
76 |
| 1804 |
P
|
MNN013 |
Meningitis |
70 |
| 1805 |
P
|
SCH015 |
Schizophrenia |
69 |
| 1806 |
P
|
EPL164 |
Epilepsy |
69 |
| 1807 |
P
|
HYD006 |
Hydrocephalus |
69 |
| 1808 |
P
|
AMY004 |
Amyloidosis |
68 |
| 1809 |
|
APN008 |
Apnea, Obstructive Sleep |
67 |
| 1810 |
P
|
CWD001 |
Cowden Disease |
67 |
| 1811 |
|
CRB039 |
Cerebrovascular Disease |
67 |
| 1812 |
P
|
ENC004 |
Encephalitis |
65 |
| 1813 |
P
|
DYS154 |
Dystonia |
64 |
| 1814 |
P
|
MYS005 |
Myositis |
63 |
| 1815 |
c
|
MCP049 |
Mucopolysaccharidosis, Type Vii |
63 |
| 1816 |
c
|
MCP024 |
Mucopolysaccharidosis Type Vi |
62 |
| 1817 |
|
MVM001 |
Movement Disease |
60 |
| 1818 |
c
|
ERL029 |
Early-Onset, Autosomal Dominant Alzheimer Disease |
59 |
| 1819 |
c
|
3MT016 |
3-Methylglutaconic Aciduria, Type Iii |
59 |
| 1820 |
|
SLP005 |
Sleep Disorder |
59 |
| 1821 |
|
HDC001 |
Headache |
59 |
| 1822 |
c
|
MCP004 |
Mucopolysaccharidosis Iv |
59 |
| 1823 |
c
|
RHB024 |
Rhabdomyosarcoma 2 |
58 |
| 1824 |
|
NRT004 |
Neuritis |
57 |
| 1825 |
|
TRP002 |
Tropical Spastic Paraparesis |
57 |
| 1826 |
|
DMY004 |
Demyelinating Disease |
57 |
| 1827 |
P
|
PLY019 |
Polyneuropathy |
57 |
| 1828 |
P
|
EPL140 |
Epilepsy, Idiopathic Generalized |
57 |
| 1829 |
c
|
ALM001 |
Al Amyloidosis |
57 |
| 1830 |
|
CRT016 |
Carotid Artery Disease |
57 |
| 1831 |
|
RLP002 |
Relapsing-Remitting Multiple Sclerosis |
57 |
| 1832 |
P
|
RHB003 |
Rhabdomyosarcoma |
56 |
| 1833 |
|
STR020 |
Strabismus |
56 |
| 1834 |
P
|
CHL002 |
Childhood Absence Epilepsy |
56 |
| 1835 |
|
FCL014 |
Focal Epilepsy |
55 |
| 1836 |
P
|
SMP003 |
Simpson-Golabi-Behmel Syndrome |
55 |
| 1837 |
c
|
CWD006 |
Cowden Syndrome 1 |
55 |
| 1838 |
P
|
MGL013 |
Megalencephaly |
54 |
| 1839 |
|
SPS003 |
Spastic Diplegia |
54 |
| 1840 |
|
ASP003 |
Aseptic Meningitis |
54 |
| 1841 |
c
|
DYS191 |
Dystonia 1, Torsion, Autosomal Dominant |
53 |
| 1842 |
P
|
MGR003 |
Migraine with Aura |
53 |
| 1843 |
P
|
CNT004 |
Centronuclear Myopathy |
53 |
| 1844 |
|
INT075 |
Intracranial Hypertension |
52 |
| 1845 |
|
TMP001 |
Temporal Lobe Epilepsy |
52 |
| 1846 |
P
|
TRN034 |
Transverse Myelitis |
52 |
| 1847 |
c
|
VRL007 |
Viral Encephalitis |
52 |
| 1848 |
c
|
INV001 |
Invasive Aspergillosis |
52 |
| 1849 |
|
QDR001 |
Quadriplegia |
52 |
| 1850 |
|
CRT013 |
Carotid Stenosis |
52 |
| 1851 |
P
|
PTT014 |
Pitt-Hopkins Syndrome |
51 |
| 1852 |
c
|
ERL020 |
Early-Onset Schizophrenia |
51 |
| 1853 |
|
GNG002 |
Ganglioneuroma |
51 |
| 1854 |
|
RFL001 |
Reflex Sympathetic Dystrophy |
51 |
| 1855 |
|
FCL012 |
Facial Paralysis |
51 |
| 1856 |
|
DBT004 |
Diabetic Polyneuropathy |
51 |
| 1857 |
c
|
SCN036 |
Secondary Progressive Multiple Sclerosis |
51 |
| 1858 |
P
|
LPR021 |
Leprosy 3 |
50 |
| 1859 |
P
|
SYR001 |
Syringomyelia |
50 |
| 1860 |
|
HNN001 |
Hennekam Syndrome |
50 |
| 1861 |
c
|
PRM108 |
Primary Progressive Multiple Sclerosis |
49 |
| 1862 |
|
MGR028 |
Migraine with or Without Aura 1 |
49 |
| 1863 |
c
|
CNG216 |
Congenital Hydrocephalus |
49 |
| 1864 |
|
MNN009 |
Meningoencephalitis |
49 |
| 1865 |
|
CRB027 |
Cerebellar Disease |
49 |
| 1866 |
c
|
VRL012 |
Viral Meningitis |
49 |
| 1867 |
c
|
HRD039 |
Hereditary Amyloidosis |
48 |
| 1868 |
P
|
LSS002 |
Lissencephaly |
48 |
| 1869 |
c
|
MYS051 |
Myasthenic Syndrome, Congenital, 5 |
47 |
| 1870 |
|
HYD061 |
Hydrocephalus, Normal-Pressure |
47 |
| 1871 |
P
|
NML001 |
Nemaline Myopathy |
47 |
| 1872 |
|
EPL073 |
Epilepsy, Nocturnal Frontal Lobe, 1 |
47 |
| 1873 |
|
SPS007 |
Spastic Cerebral Palsy |
47 |
| 1874 |
c
|
OPT051 |
Opitz Gbbb Syndrome, Type I |
47 |
| 1875 |
c
|
SCH079 |
Schizophrenia 1 |
46 |
| 1876 |
P
|
RSM001 |
Rasmussen Encephalitis |
46 |
| 1877 |
P
|
KLF001 |
Kleefstra Syndrome |
46 |
| 1878 |
|
CRB004 |
Cerebral Artery Occlusion |
46 |
| 1879 |
|
MGR001 |
Migraine Without Aura |
46 |
| 1880 |
|
CHR070 |
Chronic Inflammatory Demyelinating Polyradiculoneuropathy |
46 |
| 1881 |
|
PLY020 |
Polyradiculoneuropathy |
46 |
| 1882 |
P
|
BLP003 |
Blepharospasm |
46 |
| 1883 |
P
|
GLL032 |
Galloway-Mowat Syndrome |
46 |
| 1884 |
P
|
EPN001 |
Ependymoblastoma |
46 |
| 1885 |
P
|
ENC008 |
Encephalocele |
46 |
| 1886 |
|
BSL008 |
Basal Ganglia Disease |
46 |
| 1887 |
|
WRN003 |
Wernicke Encephalopathy |
45 |
| 1888 |
c
|
RHZ014 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
45 |
| 1889 |
c
|
PSD106 |
Pseudo-Torch Syndrome 1 |
45 |
| 1890 |
c
|
LKD010 |
Leukodystrophy, Hypomyelinating, 2 |
45 |
| 1891 |
|
CRY014 |
Cryptococcal Meningitis |
45 |
| 1892 |
|
MNN001 |
Meningeal Melanocytoma |
45 |
| 1893 |
|
MNN032 |
Meningococcal Meningitis |
44 |
| 1894 |
c
|
ACT159 |
Acute Transverse Myelitis |
44 |
| 1895 |
|
GNG008 |
Ganglioneuroblastoma |
44 |
| 1896 |
c
|
MCP047 |
Mucopolysaccharidosis, Type Iva |
44 |
| 1897 |
c
|
3MT015 |
3-Methylglutaconic Aciduria, Type I |
44 |
| 1898 |
|
CRT008 |
Carotid Artery Dissection |
44 |
| 1899 |
|
CRT015 |
Carotid Artery Occlusion |
44 |
| 1900 |
P
|
MNN018 |
Mannosidosis |
43 |
| 1901 |
P
|
MTC004 |
Mitochondrial Encephalomyopathy |
43 |
| 1902 |
|
MNN017 |
Mononeuropathy |
43 |
| 1903 |
|
HRT030 |
Hartsfield Syndrome |
43 |
| 1904 |
c
|
CHR095 |
Chronic Progressive External Ophthalmoplegia |
43 |
| 1905 |
P
|
DNR001 |
Duane Retraction Syndrome |
43 |
| 1906 |
|
CLS049 |
Classic Phenylketonuria |
42 |
| 1907 |
c
|
BNG023 |
Benign Familial Infantile Epilepsy |
42 |
| 1908 |
|
PRP056 |
Porphyria, Acute Hepatic |
42 |
| 1909 |
P
|
JVN007 |
Juvenile Absence Epilepsy |
42 |
| 1910 |
|
LKD025 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
42 |
| 1911 |
P
|
MYF003 |
Myofibrillar Myopathy |
42 |
| 1912 |
|
MNT317 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma |
42 |
| 1913 |
|
EXT022 |
Exotropia |
42 |
| 1914 |
|
ERL001 |
Early Myoclonic Encephalopathy |
42 |
| 1915 |
|
MYC033 |
Myoclonus |
41 |
| 1916 |
|
SYN058 |
Synucleinopathy |
41 |
| 1917 |
|
HYP026 |
Hypoglycemic Coma |
41 |
| 1918 |
|
PLL008 |
Pallister-Killian Syndrome |
41 |
| 1919 |
c
|
SMP007 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
41 |
| 1920 |
c
|
HYD019 |
Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius |
