Search results for ceroid-lipofuscinosis, neuronal 2, classic late infantile

70 hits were found for ceroid-lipofuscinosis, neuronal 2, classic late infantile

# Family MCID Name MIFTS Score
1
NRN002 Neuronitis 43 2.632
2
P NRN021 Neuronal Ceroid Lipofuscinosis 62 2.322
3
c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 59 1.502
4
c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 57 0.868
5
c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 51 0.637
6
RTN023 Retinitis 52 0.538
7
AGN016 Aging 65 0.522
8
P EPL164 Epilepsy 70 0.487
9
CRB009 Cerebritis 41 0.469
10
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.467
11
ATX038 Ataxia and Polyneuropathy, Adult-Onset 38 0.462
12
P ANR048 Aniridia 1 68 0.446
13
DMN002 Dementia 68 0.441
14
ANR038 Anorexia Nervosa 1 21 0.439
15
BLD137 Blood Group--Ahonen 17 0.438
16
ALR002 Al-Raqad Syndrome 30 0.427
17
HPT082 Hepatic Adenomas, Familial 52 0.392
18
LYS002 Lysosomal Storage Disease 56 0.389
19
c BLD140 Blood Group, I System 37 0.362
20
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.354
21
LPD008 Lipid Metabolism Disorder 59 0.352
22
P RTN016 Retinal Degeneration 56 0.316
23
P CRB088 Cerebral Atrophy 38 0.315
24
BLD163 Blood Group, Dombrock System 23 0.292
25
ALP046 Alport Syndrome, X-Linked 74 0.291
26
P ENC018 Encephalopathy 58 0.287
27
MYC033 Myoclonus 40 0.273
28
P MYP004 Myopathy 69 0.267
29
P BRS047 Breast Cancer 100 0.266
30
P RTT002 Rett Syndrome 82 0.249
31
ADP007 Adie Pupil 41 0.246
32
P PNC044 Pancreatitis 64 0.238
33
VRL011 Viral Infectious Disease 64 0.226
34
P KRB001 Krabbe Disease 70 0.221
35
HMT018 Hematopoietic Stem Cell Transplantation 58 0.219
36
P HYP061 Hypertrophic Cardiomyopathy 65 0.218
37
P CTR002 Cataract 60 0.216
38
P NRV007 Nervous System Disease 75 0.214
39
c EPS039 Episodic Pain Syndrome, Familial, 1 33 0.214
40
ACR006 Aceruloplasminemia 65 0.208
41
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.201
42
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 63 0.196
43
P RTN008 Retinitis Pigmentosa 81 0.193
44
P NRB001 Neuroblastoma 73 0.191
45
P CRB059 Cerebellar Degeneration 40 0.191
46
TTR025 Tetraamelia Syndrome, Autosomal Recessive 40 0.189
47
CHR073 Choreatic Disease 40 0.189
48
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 33 0.188
49
APR001 Apraxia 52 0.187
50
P TRM003 Tremor 54 0.185
51
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 54 0.183
52
P ATX024 Ataxia-Oculomotor Apraxia 3 47 0.182
53
OCL033 Oculocerebral Syndrome with Hypopigmentation 31 0.178
54
P HYD006 Hydrocephalus 68 0.176
55
c SPN291 Spinocerebellar Ataxia 7 52 0.175
56
P ATS308 Autosomal Dominant Cerebellar Ataxia 47 0.171
57
c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 30 0.170
58
P PRC019 Precocious Puberty 52 0.169
59
P PLY019 Polyneuropathy 58 0.160
60
c ACT027 Acute Pancreatitis 61 0.156
61
P SZR006 Seizure Disorder 55 0.153
62
P HYP265 Hypotonia 40 0.152
63
P PRS038 Personality Disorder 65 0.151
64
ATX010 Ataxia Neuropathy Spectrum 29 0.147
65
UND005 Undifferentiated Pleomorphic Sarcoma 59 0.145
66
NRL004 Neuroleptic Malignant Syndrome 44 0.144
67
STT001 Status Epilepticus 60 0.140
68
P ATX030 Ataxia-Telangiectasia 80 0.134
69
c LPM012 Lipomatosis, Multiple 64 0.124
70
IMM158 Immune Suppression 57 0.118
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