Search results for oculomotor apraxia

350 hits were found for oculomotor apraxia

# Family MCID Name MIFTS Score
1
ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 43 11.859
2
OCL069 Ocular Motor Apraxia 45 8.725
3
P ATX024 Ataxia-Oculomotor Apraxia 3 47 7.175
4
c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 60 7.014
5
c ATX033 Ataxia-Oculomotor Apraxia 4 23 6.146
6
WCK001 Wieacker-Wolff Syndrome 33 5.756
7
c SPN366 Spinocerebellar Ataxia with Axonal Neuropathy Type 2 27 3.753
8
INT277 Intellectual Disability-Developmental Delay-Contractures Syndrome 24 3.631
9
PRT101 Poretti-Boltshauser Syndrome 24 2.623
10
ATS233 Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome 5 2.611
11
APR001 Apraxia 52 0.837
12
ATX038 Ataxia and Polyneuropathy, Adult-Onset 38 0.416
13
DMN002 Dementia 68 0.143
14
ACR006 Aceruloplasminemia 65 0.138
15
P ALZ034 Alzheimer Disease 95 0.136
16
NRN002 Neuronitis 43 0.135
17
BRN071 Brain Injury 54 0.132
18
CRB009 Cerebritis 41 0.126
19
P JBR020 Joubert Syndrome 1 68 0.121
20
c ATS307 Autosomal Recessive Cerebellar Ataxia 27 0.121
21
P NRP001 Neuropathy 63 0.117
22
P SPR120 Supranuclear Palsy, Progressive, 1 70 0.117
23
P ATX030 Ataxia-Telangiectasia 80 0.117
24
P PTS002 Ptosis 50 0.112
25
P ENC018 Encephalopathy 58 0.108
26
TRM010 Traumatic Brain Injury 54 0.108
27
P ANR048 Aniridia 1 68 0.107
28
ANR038 Anorexia Nervosa 1 21 0.107
29
BLD137 Blood Group--Ahonen 17 0.107
30
CLS047 Classic Progressive Supranuclear Palsy Syndrome 25 0.105
31
P DYS154 Dystonia 61 0.104
32
AGN016 Aging 65 0.103
33
c JBR004 Joubert Syndrome 2 28 0.096
34
c JBR027 Joubert Syndrome 16 20 0.096
35
c JBR036 Joubert Syndrome 25 20 0.096
36
c CNT035 Central Nervous System Disease 65 0.093
37
P HYD006 Hydrocephalus 68 0.091
38
P TRM003 Tremor 54 0.091
39
P AXN001 Axonal Neuropathy 38 0.091
40
ANR040 Aneurysm 61 0.088
41
P GCH001 Gaucher's Disease 62 0.085
42
CCH002 Coach Syndrome 51 0.085
43
c JBR031 Joubert Syndrome 21 24 0.085
44
c SPS212 Spastic Ataxia 5, Autosomal Recessive 23 0.085
45
c JBR015 Joubert Syndrome 6 21 0.085
46
c JBR026 Joubert Syndrome 15 21 0.085
47
c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 42 0.085
48
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.085
49
HDC001 Headache 55 0.085
50
ALR002 Al-Raqad Syndrome 30 0.083
51
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.083
52
P NRV007 Nervous System Disease 75 0.081
53
STR020 Strabismus 55 0.081
54
TTR025 Tetraamelia Syndrome, Autosomal Recessive 40 0.080
55
c BLD140 Blood Group, I System 37 0.080
56
MLT157 Multiple System Atrophy 1 65 0.078
57
P ATS308 Autosomal Dominant Cerebellar Ataxia 47 0.078
58
P CRN035 Cranial Nerve Palsy 42 0.077
59
P MLT020 Multiple Sclerosis 85 0.074
60
P PRK057 Parkinson Disease, Late-Onset 78 0.074
61
P EPL164 Epilepsy 70 0.074
62
CRB039 Cerebrovascular Disease 68 0.074
63
P NPH005 Nephronophthisis 57 0.074
64
CRB027 Cerebellar Disease 48 0.074
65
c ATX040 Ataxia-Telangiectasia-Like Disorder 1 41 0.074
66
PST086 Posterior Cortical Atrophy 38 0.074
67
c JBR012 Joubert Syndrome 5 25 0.074
68
c JBR041 Joubert Syndrome 3 24 0.074
69
c JBR011 Joubert Syndrome 7 23 0.074
70
c JBR025 Joubert Syndrome 17 22 0.074
71
c JBR018 Joubert Syndrome 4 22 0.074
72
c JBR013 Joubert Syndrome 8 20 0.074
73
c JBR039 Joubert Syndrome 28 19 0.074
74
c JBR038 Joubert Syndrome 27 18 0.074
75
c JBR022 Joubert Syndrome 20 18 0.074
76
c ESS001 Essential Tremor 58 0.073
77
BSL008 Basal Ganglia Disease 44 0.073
78
PLY082 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 40 0.073
79
ALP072 Alpha-Fetoprotein Deficiency 32 0.073
80
SML010 Simultanagnosia 23 0.073
81
ISC004 Ischemia 66 0.073
82
P ENC004 Encephalitis 66 0.070
83
MTR014 Motor Neuron Disease 62 0.070
84
AGR018 Agraphia 38 0.070
85
P SPN301 Spinocerebellar Ataxia 2 56 0.067
86
P BLD124 Bleeding Disorder, Platelet-Type, 11 38 0.067
87
JBR005 Joubert Syndrome with Ocular Anomalies 36 0.067
88
SPS057 Spasticity 41 0.067
89
INT042 Internuclear Ophthalmoplegia 40 0.067
90
CHR073 Choreatic Disease 40 0.067
91
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 33 0.067
92
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.064
93
HPT082 Hepatic Adenomas, Familial 52 0.064
94
P CRV039 Cervicitis 49 0.064
95
CRV043 Cervical Dystonia 45 0.064
96
P HYP265 Hypotonia 40 0.064
97
BLD163 Blood Group, Dombrock System 23 0.064
98
DVL005 Developmental Dyspraxia 19 0.064
99
P MNN013 Meningitis 71 0.064
100
P SCH015 Schizophrenia 71 0.064
101
HRP004 Herpes Zoster 61 0.064
102
NRS003 Neurosyphilis 44 0.064
103
MLL002 Miller Fisher Syndrome 44 0.064
104
HRP011 Herpes Zoster Ophthalmicus 26 0.064
105
P CRD224 Cardiofaciocutaneous Syndrome 1 65 0.060
106
RFS006 Refsum Disease, Classic 63 0.060
107
P OLV001 Olivopontocerebellar Atrophy 51 0.060
108
MNN009 Meningoencephalitis 49 0.060
109
c GCH016 Gaucher Disease, Type Ii 45 0.060
110
HRD026 Hereditary Ataxia 43 0.060
111
ATS010 Autosomal Recessive Disease 40 0.060
112
c PNT018 Pontocerebellar Hypoplasia, Type 1b 38 0.060
113
CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 38 0.060
114
SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 37 0.060
115
DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 34 0.060
116
P SPS008 Spastic Ataxia 32 0.060
117
FRS004 Free Sialic Acid Storage Disorders 31 0.060
118
JBR007 Joubert Syndrome with Renal Anomalies 30 0.060
119
PNT009 Pontine Tegmental Cap Dysplasia 29 0.060
120
c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27 0.060
121
c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 26 0.060
122
c PNT039 Pontocerebellar Hypoplasia, Type 7 25 0.060
123
c PRX047 Peroxisome Biogenesis Disorder 5b 21 0.060
124
PYR025 Pyruvate Dehydrogenase E2 Deficiency 21 0.060
125
c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 21 0.060
126
c MCK028 Meckel Syndrome 13 20 0.060
127
NRD027 Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset 18 0.060
128
CRB160 Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes 16 0.060
129
ATX046 Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death 13 0.060
130
BRK013 Birk-Landau-Perez Syndrome 13 0.060
131
P DLT002 Dilated Cardiomyopathy 76 0.059
132
CRT072 Creutzfeldt-Jakob Disease 65 0.059
133
STF001 Stiff-Person Syndrome 61 0.059
134
P MCR010 Microcephaly 57 0.059
135
GRS011 Gerstmann-Straussler Disease 48 0.059
136
P ANL018 Analbuminemia 45 0.059
137
ADP007 Adie Pupil 41 0.059
138
CNG065 Congenital Contractures 27 0.059
139
LYM017 Lyme Disease 68 0.058
140
P PLY019 Polyneuropathy 58 0.058
141
NRT004 Neuritis 55 0.058
142
ALP046 Alport Syndrome, X-Linked 74 0.052
143
DMN031 Dementia, Lewy Body 66 0.052
144
SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 46 0.052
145
ALX001 Alexia 44 0.052
146
SPN331 Spondyloocular Syndrome 34 0.052
147
GRS001 Gerstmann Syndrome 30 0.052
148
ANT007 Anterior Horn Cell Disease 25 0.052
149
BLN017 Balint Syndrome 16 0.052
150
INS024 Insulin-Like Growth Factor I 83 0.051
151
P LKM002 Leukemia 75 0.051
152
CRB011 Cerebrotendinous Xanthomatosis 64 0.051
153
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 63 0.051
154
P HYP086 Hypothyroidism 62 0.051
155
LMB002 Lambert-Eaton Myasthenic Syndrome 58 0.051
156
P INT030 Intracranial Aneurysm 58 0.051
157
P FRD012 Friedreich Ataxia 1 58 0.051
158
XNT003 Xanthomatosis 53 0.051
159
RTN023 Retinitis 52 0.051
160
ATN005 Autonomic Dysfunction 51 0.051
161
CHR008 Choroiditis 47 0.051
162
FCL022 Focal Dystonia 47 0.051
163
CNT025 Central Pontine Myelinolysis 45 0.051
164
ALB002 Albinism 45 0.051
165
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.051
166
MVM001 Movement Disease 40 0.051
167
OCL033 Oculocerebral Syndrome with Hypopigmentation 31 0.051
168
P BRS047 Breast Cancer 100 0.043
169
P HPT023 Hepatocellular Carcinoma 94 0.043
170
c SYS001 Systemic Lupus Erythematosus 86 0.043
171
MLR004 Malaria 86 0.043
172
SQM006 Squamous Cell Carcinoma 74 0.043
173
P NRB001 Neuroblastoma 73 0.043
174
P MTC003 Metachromatic Leukodystrophy 72 0.043
175
ANX010 Anxiety 72 0.043
176
ADR007 Adrenoleukodystrophy 72 0.043
177
P DBT009 Diabetes Mellitus 72 0.043
178
P ADN016 Adenocarcinoma 71 0.043
179
CHL065 Cholangiocarcinoma 70 0.043
180
P KRB001 Krabbe Disease 70 0.043
181
P MJR001 Major Depressive Disorder 70 0.043
182
P LPS004 Lupus Erythematosus 69 0.043
183
P MYP004 Myopathy 69 0.043
184
c PRM196 Premature Ovarian Failure 1 68 0.043
185
c HRD010 Hereditary Spastic Paraplegia 68 0.043
186
P HMP002 Hemophagocytic Lymphohistiocytosis 67 0.043
187
P CNJ013 Conjunctivitis 67 0.043
188
TYP007 Typhoid Fever 67 0.043
189
ATM095 Autoimmune Disease 66 0.043
190
P CLC063 Celiac Disease 1 65 0.043
191
LGN002 Legionellosis 65 0.043
192
SND001 Sandhoff Disease 65 0.043
193
P THR014 Thrombocytopenia 65 0.043
194
LPT001 Leptospirosis 64 0.043
195
c MCP049 Mucopolysaccharidosis, Type Vii 64 0.043
196
CYS013 Cystinuria 64 0.043
197
P NRC002 Narcolepsy 64 0.043
198
LNG108 Langerhans Cell Histiocytosis 63 0.043
199
P MCH002 Machado-Joseph Disease 63 0.043
200
HYP056 Hypoglycemia 62 0.043
201
P CMR001 Camurati-Engelmann Disease 62 0.043
202
P GRV001 Graves' Disease 62 0.043
203
THR024 Thrombosis 61 0.043
204
P MMP001 Mumps 61 0.043
205
CHK001 Chikungunya 61 0.043
206
P BPL003 Bipolar Disorder 61 0.043
207
P CTR002 Cataract 60 0.043
208
P HST010 Histiocytosis 60 0.043
209
SLP005 Sleep Disorder 59 0.043
210
SNS001 Sensorineural Hearing Loss 59 0.043
211
P EPD009 Epidermolysis Bullosa Dystrophica 59 0.043
212
PLS007 Plasmodium Falciparum Malaria 59 0.043
213
c SPN294 Spinocerebellar Ataxia 1 58 0.043
214
PPL022 Papilloma 58 0.043
215
P SML001 Small Cell Carcinoma 58 0.043
216
WST005 West Nile Virus 58 0.043
217
P SJG008 Sjogren Syndrome 58 0.043
218
MVL001 Mevalonic Aciduria 57 0.043
219
P PLY006 Polydactyly 57 0.043
220
LKD001 Leukodystrophy 57 0.043
221
EPD016 Epidermolysis Bullosa 57 0.043
222
ERD001 Erdheim-Chester Disease 57 0.043
223
ECT006 Ectodermal Dysplasia 57 0.043
224
P LRY019 Laryngitis 57 0.043
225
HYP730 Hypogonadotropic Hypogonadism 56 0.043
226
P ALP008 Alopecia 56 0.043
227
P RTN016 Retinal Degeneration 56 0.043
228
PLS006 Plasmodium Vivax Malaria 56 0.043
229
P THY032 Thyroiditis 56 0.043
230
ACR008 Acrocallosal Syndrome 56 0.043
231
SPS003 Spastic Diplegia 55 0.043
232
c LYM130 Lymphedema, Hereditary, Ii 55 0.043
233
c CLR131 Ciliary Dyskinesia, Primary, 1 54 0.043
234
P DBT005 Diabetes Insipidus 54 0.043
235
HYP080 Hypogonadism 54 0.043
236
OPT009 Optic Neuritis 53 0.043
237
c XRD031 Xeroderma Pigmentosum, Complementation Group F 53 0.043
238
c CNG415 Congenital Disorder of Glycosylation, Type Ia 53 0.043
239
P TRT010 Teratoma 53 0.043
240
PRP016 Paraplegia 53 0.043
241
ACT049 Acute Disseminated Encephalomyelitis 52 0.043
242
VTM028 Vitamin E, Familial Isolated Deficiency of 52 0.043
243
BBS001 Babesiosis 51 0.043
244
c SPS222 Spastic Paraplegia 20, Autosomal Recessive 51 0.043
245
c FML023 Familial Hemiplegic Migraine 51 0.043
246
PRN023 Prion Disease 51 0.043
247
c SPS128 Spastic Paraplegia 7, Autosomal Recessive 50 0.043
248
WHP001 Whipple Disease 50 0.043
249
GNG002 Ganglioneuroma 50 0.043
250
PNC001 Pancytopenia 50 0.043
251
P CRB185 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 50 0.043
252
DNT005 Dentatorubral-Pallidoluysian Atrophy 50 0.043
253
OPS006 Opsoclonus-Myoclonus Syndrome 50 0.043
254
P HMP006 Hemiplegic Migraine 49 0.043
255
FTL002 Fatal Familial Insomnia 49 0.043
256
CHC001 Chickenpox 48 0.043
257
RSD004 Rosai-Dorfman Disease 48 0.043
258
P SDR002 Siderosis 48 0.043
259
c BRN108 Branchiootic Syndrome 1 47 0.043
260
P MRD002 Marden-Walker Syndrome 47 0.043
261
c HYP805 Hypercholesterolemia, Autosomal Dominant, 3 47 0.043
262
c SPN293 Spinocerebellar Ataxia 12 47 0.043
263
P ATM019 Autoimmune Polyendocrine Syndrome 47 0.043
264
VTM002 Vitamin B12 Deficiency 46 0.043
265
END072 Endotheliitis 46 0.043
266
MNN032 Meningococcal Meningitis 45 0.043
267
NRN008 Neuronal Intranuclear Inclusion Disease 44 0.043
268
CHR276 Chronic Active Epstein-Barr Virus Infection 44 0.043
269
P PLL002 Pellagra 44 0.043
270
P MYF003 Myofibrillar Myopathy 44 0.043
271
ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 43 0.043
272
c L2H001 L-2-Hydroxyglutaric Aciduria 43 0.043
273
c SPN311 Spinocerebellar Ataxia 13 42 0.043
274
TXC011 Toxocariasis 42 0.043
275
LMB024 Limbic Encephalitis 42 0.043
276
SPN050 Spinocerebellar Degeneration 41 0.043
277
AMN006 Aminoaciduria 41 0.043
278
CHR078 Chorioretinitis 41 0.043
279
c SPN103 Spinocerebellar Ataxia 31 40 0.043
280
c 3MT014 3-Methylglutaconic Aciduria, Type V 40 0.043
281
CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 40 0.043
282
c ATM075 Autoimmune Encephalitis 40 0.043
283
ADR038 Adermatoglyphia 40 0.043
284
MYC033 Myoclonus 40 0.043
285
P ENC011 Encephalomyopathy 40 0.043
286
SPR066 Superficial Siderosis 40 0.043
287
P CRB059 Cerebellar Degeneration 40 0.043
288
c SZR022 Seizures, Benign Familial Neonatal, 1 39 0.043
289
HYP064 Hypogonadotropism 38 0.043
290
P MRN003 Marinesco-Sjogren Syndrome 38 0.043
291
GRD009 Gordon Holmes Syndrome 38 0.043
292
c SPS109 Spastic Paraplegia 46, Autosomal Recessive 37 0.043
293
c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 37 0.043
294
OBS004 Obstructive Hydrocephalus 37 0.043
295
VRS001 Virus Associated Hemophagocytic Syndrome 36 0.043
296
P MYC026 Myoclonus Epilepsy 35 0.043
297
MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 35 0.043
298
PRN039 Paraneoplastic Syndromes 35 0.043
299
MJD001 Majeed Syndrome 35 0.043
300
CNZ001 Coenzyme Q10 Deficiency Disease 34 0.043
301
ART137 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 34 0.043
302
CRT012 Cortical Blindness 34 0.043
303
GLL028 Gillespie Syndrome 33 0.043
304
SPS019 Spastic Paraparesis 33 0.043
305
CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 33 0.043
306
PRN032 Paraneoplastic Cerebellar Degeneration 33 0.043
307
c MLT009 Multiple Cranial Nerve Palsy 33 0.043
308
c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 32 0.043
309
TST033 Testicular Regression Syndrome 32 0.043
310
ATX019 Ataxia with Vitamin E Deficiency 31 0.043
311
c SPN105 Spinocerebellar Ataxia 4 30 0.043
312
MTC008 Mitochondrial Complex Iii Deficiency 30 0.043
313
ATX039 Ataxia-Pancytopenia Syndrome 30 0.043
314
c SPN095 Spinocerebellar Ataxia 19 30 0.043
315
SMT020 Smith-Kingsmore Syndrome 29 0.043
316
BCH003 Boucher-Neuhauser Syndrome 29 0.043
317
CRB189 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss 27 0.043
318
NRL008 Neural Crest Tumor 26 0.043
319
PPL052 Papillomatosis, Confluent and Reticulated 26 0.043
320
DFF031 Diffuse Alveolar Hemorrhage 25 0.043
321
HNM002 Hinman Syndrome 25 0.043
322
CRB196 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 24 0.043
323
LRY047 Laryngeal Abductor Paralysis 24 0.043
324
c JBR035 Joubert Syndrome 24 22 0.043
325
c JBR042 Joubert Syndrome 23 22 0.043
326
c JBR037 Joubert Syndrome 26 22 0.043
327
c JBR030 Joubert Syndrome 22 21 0.043
328
CRB058 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss 21 0.043
329
ACT181 Acute Motor Axonal Neuropathy 21 0.043
330
c ATS210 Autosomal Recessive Sideroblastic Anemia 21 0.043
331
c NPH071 Nephronophthisis 14 21 0.043
332
c ORF046 Orofaciodigital Syndrome Xvi 21 0.043
333
CLF048 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 21 0.043
334
c JBR016 Joubert Syndrome 10 20 0.043
335
c JBR021 Joubert Syndrome 18 20 0.043
336
c PRM015 Primary Cerebellar Degeneration 20 0.043
337
c JBR014 Joubert Syndrome 9 19 0.043
338
c NPH067 Nephronophthisis 12 19 0.043
339
c JBR040 Joubert Syndrome 30 19 0.043
340
SBC025 Subcortical Arteriosclerotic Encephalopathy 18 0.043
341
EXT039 Extrapontine Myelinolysis 18 0.043
342
c JBR028 Joubert Syndrome 13 17 0.043
343
c JBR045 Joubert Syndrome 33 17 0.043
344
ISN001 Isoniazid Toxicity 16 0.043
345
c JBR043 Joubert Syndrome 32 16 0.043
346
ACT236 Acute Motor and Sensory Axonal Neuropathy 14 0.043
347
ALK024 Alkuraya-Kucinskas Syndrome 13 0.043
348
CRB178 Cerebellar Ataxia and Neurosensory Deafness 12 0.043
349
SPR067 Sporadic Adult-Onset Ataxia of Unknown Etiology 10 0.043
350
SYN013 Syne1-Related Autosomal Recessive Cerebellar Ataxia 4 0.043
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