Search results for mecp2

308 hits were found for mecp2

# Family MCID Name MIFTS Score
1
LBS001 Lubs X-Linked Mental Retardation Syndrome 51 16.149
2
P ENC054 Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations 30 14.830
3
P RTT002 Rett Syndrome 80 8.514
4
MCP054 Mecp2 Disorders 17 7.190
6
P MNT135 Mental Retardation, X-Linked, Syndromic 13 47 4.616
7
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 64 3.937
8
c ATS367 Autism X-Linked 3 28 3.928
9
P ANG001 Angelman Syndrome 69 3.721
10
P ATS364 Autism 70 3.536
11
P MCR010 Microcephaly 59 3.353
12
P ATT013 Attention Deficit-Hyperactivity Disorder 65 3.149
13
P EPL164 Epilepsy 71 3.085
14
P ENC018 Encephalopathy 61 3.048
15
P PRV006 Pervasive Developmental Disorder 57 2.895
16
BRX001 Bruxism 50 2.827
17
P HYP265 Hypotonia 43 2.796
18
P SCH015 Schizophrenia 74 2.787
19
c SYS001 Systemic Lupus Erythematosus 86 2.501
20
P DYS154 Dystonia 65 2.501
21
c ATS007 Autism Spectrum Disorder 67 2.482
22
DWN001 Down Syndrome 70 2.433
23
P FRG001 Fragile X Syndrome 70 2.400
24
P ASP001 Asperger Syndrome 48 2.361
25
SPC010 Speech and Communication Disorders 47 2.361
26
WST001 West Syndrome 61 2.338
27
SPS057 Spasticity 45 2.270
28
LRN003 Learning Disability 49 2.087
29
P SCL018 Scoliosis 60 2.074
30
P PRD006 Prader-Willi Syndrome 59 2.032
31
P SCK002 Sick Sinus Syndrome 55 1.999
32
P RSP003 Respiratory Failure 74 1.980
33
GST092 Gastroesophageal Reflux 67 1.980
34
FCL014 Focal Epilepsy 54 1.980
35
ANX010 Anxiety 73 1.960
36
HYP748 Hypertelorism 50 1.960
37
NNS032 Non-Syndromic X-Linked Intellectual Disability 43 1.960
38
P MYP004 Myopathy 70 1.909
39
P GLL020 Gallbladder Disease 57 1.909
40
P BPL003 Bipolar Disorder 56 1.909
41
SMT008 Smith-Magenis Syndrome 54 1.909
42
KBG001 Kbg Syndrome 53 1.909
43
P HYP077 Hypertrichosis 50 1.909
44
P SYN064 Syndromic X-Linked Intellectual Disability 25 1.909
45
c INF065 Infantile Hypotonia 24 1.622
46
VSL002 Visual Epilepsy 59 1.600
47
ALP095 Alpha Thalassemia-X-Linked Intellectual Disability Syndrome 45 1.437
48
c FTL006 Fetal Alcohol Spectrum Disorder 43 1.437
49
CNT097 Central Hypoventilation Syndrome, Congenital 71 1.413
50
c ALP101 Alpha-Thalassemia 62 1.413
51
LRY029 Laryngomalacia 47 1.413
52
FCL073 Facial Hypertrichosis 15 1.413
53
P PTT014 Pitt-Hopkins Syndrome 63 1.386
54
LNN001 Lennox-Gastaut Syndrome 57 1.386
55
MWT001 Mowat-Wilson Syndrome 54 1.386
56
CHR174 Christianson Syndrome 46 1.386
57
P SYN057 Syndromic Intellectual Disability 41 1.386
58
GTP001 Gait Apraxia 31 1.386
59
c ATS476 Autosomal Dominant Non-Syndromic Intellectual Disability 32 21 1.386
60
P RTN008 Retinitis Pigmentosa 79 1.350
61
c EPL184 Epileptic Encephalopathy, Early Infantile, 6 70 1.350
62
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 66 1.350
63
P CRN015 Cornelia De Lange Syndrome 64 1.350
64
P ERL057 Early Infantile Epileptic Encephalopathy 63 1.350
65
c HYP794 Hyperoxaluria, Primary, Type I 63 1.350
66
PHL006 Phelan-Mcdermid Syndrome 62 1.350
67
P PRM002 Primary Hyperoxaluria 62 1.350
68
TMT001 Timothy Syndrome 61 1.350
69
P STS008 Sotos Syndrome 1 61 1.350
70
CFF002 Coffin-Lowry Syndrome 60 1.350
71
c OTP006 Otopalatodigital Syndrome, Type I 60 1.350
72
BNG009 Benign Epilepsy with Centrotemporal Spikes 58 1.350
73
DSS008 Disease of Mental Health 58 1.350
74
IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 57 1.350
75
c EPL097 Epileptic Encephalopathy, Early Infantile, 14 52 1.350
76
KGM001 Kagami-Ogata Syndrome 51 1.350
77
MNN009 Meningoencephalitis 49 1.350
78
c PTT029 Pitt-Hopkins-Like Syndrome 1 49 1.350
79
PTC002 Potocki-Lupski Syndrome 48 1.350
80
IMM011 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 47 1.350
81
c PRM031 Primary Autosomal Recessive Microcephaly 47 1.350
82
CHL012 Childhood Disintegrative Disease 44 1.350
83
LND001 Landau-Kleffner Syndrome 44 1.350
84
c PNT039 Pontocerebellar Hypoplasia, Type 7 43 1.350
85
PHY002 Physical Disorder 42 1.350
86
c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 42 1.350
87
VLP002 Valproate Embryopathy 41 1.350
88
c EPL119 Epileptic Encephalopathy, Early Infantile, 17 41 1.350
89
P MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 40 1.350
90
c EPL038 Epileptic Encephalopathy, Early Infantile, 8 38 1.350
91
c ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 36 1.350
92
STR015 Stereotypic Movement Disorder 34 1.350
93
ECH002 Echolalia 34 1.350
94
SPC003 Specific Developmental Disorder 31 1.350
95
ATY003 Atypical Autism 31 1.350
96
P CHR084 Chromosomal Disease 30 1.350
98
P ELC007 Electroclinical Syndrome 30 1.350
99
c CHR565 Chromosomal Deletion Syndrome 25 1.350
100
c CNG031 Congenital Nervous System Abnormality 24 1.350
101
BNS002 Bone Structure Disease 24 1.350
102
NNT041 Neonatal Period Electroclinical Syndrome 23 1.350
103
c INF033 Infancy Electroclinical Syndrome 21 1.350
104
CHR569 Chromosomal Duplication Syndrome 18 1.350
105
c XLN230 X-Linked Monogenic Disease 18 1.350
106
FLY001 Flying Phobia 17 1.350
107
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.195
108
P SZR006 Seizure Disorder 56 0.157
109
P TRM003 Tremor 54 0.144
110
P LPS004 Lupus Erythematosus 61 0.131
111
P GST053 Gastric Cancer 83 0.123
112
ATM095 Autoimmune Disease 62 0.115
113
CNS004 Constipation 58 0.115
114
ATN005 Autonomic Dysfunction 46 0.107
115
P NRB001 Neuroblastoma 72 0.097
116
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 66 0.097
117
c EPL025 Epileptic Encephalopathy, Early Infantile, 2 50 0.097
118
P GLM045 Glioma 63 0.087
119
47X002 47,xyy 49 0.087
120
GLL048 Glial Tumor 45 0.087
121
P CHR345 Chronic Pain 44 0.087
122
P CLR023 Colorectal Cancer 99 0.075
123
P PLM036 Pulmonary Fibrosis 65 0.075
124
HYP266 Hypoxia 57 0.075
125
APR001 Apraxia 52 0.075
126
P EMR017 Emery-Dreifuss Muscular Dystrophy 1, X-Linked 46 0.075
127
P MYC033 Myoclonus 46 0.075
128
P ATS366 Autism X-Linked 2 42 0.075
129
SPS019 Spastic Paraparesis 38 0.075
130
P HPT023 Hepatocellular Carcinoma 100 0.062
131
P PRS040 Prostate Cancer 97 0.062
132
P BRS047 Breast Cancer 97 0.062
133
P ATX030 Ataxia-Telangiectasia 82 0.062
134
P RHM011 Rheumatoid Arthritis 80 0.062
135
KPS004 Kaposi Sarcoma 75 0.062
136
P HRT032 Heart Disease 75 0.062
137
CNG034 Congestive Heart Failure 69 0.062
138
P MJR001 Major Depressive Disorder 68 0.062
139
ART001 Arterial Tortuosity Syndrome 66 0.062
140
TTN003 Tetanus 65 0.062
141
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 65 0.062
142
P MVM001 Movement Disease 63 0.062
143
DPR016 Depression 63 0.062
144
c SVR001 Severe Acute Respiratory Syndrome 62 0.062
145
P TRC086 Trichohepatoenteric Syndrome 1 62 0.062
146
P CRB101 Cerebrooculofacioskeletal Syndrome 1 60 0.062
147
P THL005 Thalassemia 60 0.062
148
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 0.062
149
MNT002 Mental Depression 58 0.062
150
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 57 0.062
151
P FTL001 Fetal Alcohol Syndrome 57 0.062
152
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 55 0.062
153
P ALP106 Alport Syndrome 1, X-Linked 55 0.062
154
THR013 Thoracic Outlet Syndrome 54 0.062
155
P OVR082 Overgrowth Syndrome 50 0.062
156
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 50 0.062
157
HYP080 Hypogonadism 50 0.062
158
MCN001 Mucinous Adenocarcinoma 49 0.062
159
BKR002 Baker-Gordon Syndrome 49 0.062
160
c HYD064 Hydrocephalus, Congenital, 1 48 0.062
161
HLX001 Helix Syndrome 47 0.062
162
P PRC019 Precocious Puberty 46 0.062
163
CRB004 Cerebral Artery Occlusion 45 0.062
164
APP009 Appendix Adenocarcinoma 44 0.062
165
c CHR682 Chronic Bilirubin Encephalopathy 39 0.062
166
RPD005 Rapidly Involuting Congenital Hemangioma 38 0.062
167
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 38 0.062
168
CHR178 Chromosomal Triplication 35 0.062
169
c FML272 Familial Sick Sinus Syndrome 34 0.062
170
NRN002 Neuronitis 32 0.062
171
PLY150 Polykaryocytosis Inducer 31 0.062
172
MTY003 Mutyh Polyposis 30 0.062
174
c AMY091 Amyotrophic Lateral Sclerosis 1 89 0.044
175
P PNC035 Pancreatic Cancer 84 0.044
176
c FNC027 Fanconi Anemia, Complementation Group a 81 0.044
177
INS024 Insulin-Like Growth Factor I 79 0.044
178
P MDL005 Medulloblastoma 77 0.044
179
PLM134 Pulmonary Fibrosis, Idiopathic 77 0.044
180
c ATR087 Atrial Standstill 1 75 0.044
181
ADR007 Adrenoleukodystrophy 75 0.044
182
BRN028 Brain Cancer 74 0.044
183
END057 Endometrial Cancer 74 0.044
184
c SPN225 Spondyloarthropathy 1 73 0.044
185
P RTN024 Retinoblastoma 73 0.044
186
P HNT016 Huntington Disease 72 0.044
187
P TBR001 Tuberous Sclerosis 70 0.044
188
P ART022 Arthritis 69 0.044
189
P SLP006 Sleep Apnea 69 0.044
190
P CRN037 Craniosynostosis 68 0.044
191
OBS002 Obsessive-Compulsive Disorder 68 0.044
192
RCK004 Rickets 68 0.044
193
P PLM037 Pulmonary Hypertension 67 0.044
194
c PRM196 Premature Ovarian Failure 1 67 0.044
195
ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 66 0.044
196
OST159 Osteogenic Sarcoma 66 0.044
197
GLL008 Gilles De La Tourette Syndrome 66 0.044
198
P MCR115 Microvascular Complications of Diabetes 5 66 0.044
199
c MCR129 Microvascular Complications of Diabetes 1 66 0.044
200
AND002 Androgen Insensitivity Syndrome 66 0.044
201
P HYD006 Hydrocephalus 66 0.044
202
LWC002 Lowe Oculocerebrorenal Syndrome 65 0.044
203
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.044
204
BRR014 Barrett Esophagus 65 0.044
205
DGR001 Digeorge Syndrome 64 0.044
206
P ADN016 Adenocarcinoma 64 0.044
207
P RHB003 Rhabdomyosarcoma 63 0.044
208
INC021 Incontinentia Pigmenti 63 0.044
209
P ANR048 Aniridia 1 63 0.044
210
WLK001 Walker-Warburg Syndrome 63 0.044
211
ANR007 Anorexia Nervosa 63 0.044
212
LPD008 Lipid Metabolism Disorder 62 0.044
213
P SPN046 Spinal Muscular Atrophy 62 0.044
214
P BCK002 Beckwith-Wiedemann Syndrome 62 0.044
215
LVR012 Liver Cirrhosis 62 0.044
216
NTR005 Nutritional Deficiency Disease 62 0.044
217
FTT001 Fatty Liver Disease 61 0.044
218
P ENC004 Encephalitis 61 0.044
219
P SJG008 Sjogren Syndrome 61 0.044
220
NPH091 Nephrolithiasis, Calcium Oxalate 60 0.044
221
ACN002 Acanthosis Nigricans 60 0.044
222
LNG099 Lung Disease 60 0.044
223
SQM006 Squamous Cell Carcinoma 60 0.044
224
P FTT008 Fatty Liver Disease, Nonalcoholic 1 60 0.044
225
HYD002 Hydronephrosis 60 0.044
226
P AXN002 Axenfeld-Rieger Syndrome 59 0.044
227
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 59 0.044
228
P BND020 Bone Disease 59 0.044
229
c HPT016 Hepatitis B 59 0.044
230
P SLP005 Sleep Disorder 59 0.044
231
PRG009 Progressive Multifocal Leukoencephalopathy 59 0.044
232
CRY035 Cryptorchidism, Unilateral or Bilateral 58 0.044
233
RBS001 Rabies 58 0.044
234
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 58 0.044
235
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 0.044
236
VSC002 Vascular Dementia 57 0.044
237
c LSS005 Lissencephaly 1 56 0.044
238
c ESS001 Essential Tremor 56 0.044
239
ERY051 Erythroleukemia, Familial 56 0.044
240
HPT022 Hepatoblastoma 56 0.044
241
NPH009 Nephrolithiasis 55 0.044
242
P DYS193 Dystonia 11, Myoclonic 55 0.044
243
P STR020 Strabismus 55 0.044
244
PPL022 Papilloma 54 0.044
245
c HPT007 Hepatitis E 53 0.044
246
c FML008 Familial Retinoblastoma 53 0.044
247
c CNT035 Central Nervous System Disease 52 0.044
248
CHR073 Choreatic Disease 52 0.044
249
P MSC003 Muscular Atrophy 52 0.044
250
c PRM108 Primary Progressive Multiple Sclerosis 51 0.044
251
P LSS002 Lissencephaly 51 0.044
252
SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 51 0.044
253
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51 0.044
254
STM007 Stomatitis 50 0.044
255
LNG015 Lingual-Facial-Buccal Dyskinesia 50 0.044
256
PLY024 Polymicrogyria 49 0.044
257
CCN002 Cocaine Abuse 49 0.044
258
QDR001 Quadriplegia 48 0.044
259
ATS010 Autosomal Recessive Disease 48 0.044
260
ASP007 Aspiration Pneumonia 48 0.044
261
MCR018 Microcytic Anemia 47 0.044
262
IRN004 Iron-Refractory Iron Deficiency Anemia 47 0.044
263
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 47 0.044
264
STR103 Streptococcus Pneumonia 47 0.044
265
HYD005 Hydrocele 46 0.044
266
SQM002 Squamous Cell Papilloma 46 0.044
267
OPD001 Opioid Abuse 46 0.044
268
SGN002 Signet Ring Cell Adenocarcinoma 45 0.044
269
IMM003 Immunoglobulin Alpha Deficiency 45 0.044
270
CRT015 Carotid Artery Occlusion 45 0.044
271
c ERL020 Early-Onset Schizophrenia 44 0.044
272
c PCH010 Pachyonychia Congenita 3 44 0.044
273
c GZP005 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1 44 0.044
274
CRB027 Cerebellar Disease 44 0.044
275
HPT082 Hepatic Adenomas, Familial 44 0.044
276
ORL015 Oral Squamous Cell Carcinoma 43 0.044
277
CYT002 Cytokine Deficiency 42 0.044
278
TRC097 Tracheomalacia 42 0.044
279
c MNT319 Mental Retardation, Autosomal Dominant 20 42 0.044
280
MCH006 Mechanical Strabismus 42 0.044
281
c BRT038 Baraitser-Winter Syndrome 1 41 0.044
282
WCK001 Wieacker-Wolff Syndrome 41 0.044
283
PLG004 Plagiocephaly 41 0.044
284
PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41 0.044
285
c MCR112 Microvascular Complications of Diabetes 2 41 0.044
286
RDN001 Reading Disorder 40 0.044
287
48X005 48,xyyy 39 0.044
288
ADP007 Adie Pupil 39 0.044
289
FRS019 Farsightedness 38 0.044
290
P CRB088 Cerebral Atrophy 37 0.044
291
SYS071 Systemic Autoimmune Disease 37 0.044
292
ATX010 Ataxia Neuropathy Spectrum 34 0.044
293
ALR002 Al-Raqad Syndrome 33 0.044
294
ACT064 Acute Necrotizing Encephalitis 33 0.044
295
c HRD198 Hereditary Dystonia 30 0.044
296
c RTT008 Rett Syndrome, Congenital Variant 30 0.044
297
HNM002 Hinman Syndrome 27 0.044
298
P BLT016 Bilateral Polymicrogyria 27 0.044
299
APC009 Apocrine Gland Secretion, Variation in 24 0.044
300
P PLM064 Pulmonary Sequestration 22 0.044
301
SPC022 Specific Antibody Deficiency 22 0.044
302
THY020 Thyroid Hyalinizing Trabecular Adenoma 21 0.044
303
CHR507 Chromosome Xq27.3-Q28 Duplication Syndrome 21 0.044
304
FXG001 Foxg1 Syndrome 20 0.044
305
BLD137 Blood Group--Ahonen 16 0.044
306
CHR274 Chromosome Xq Duplication 13 0.044
307
SBP003 Subependymal Nodular Heterotopia 13 0.044
308
c SYS067 Systemic Lupus Erythematosus 15 12 0.044
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