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

The MalaCard for "ceroid-lipofuscinosis, neuronal 2, classic late infantile" has been retired.
Searching MalaCards for entries containing "ceroid-lipofuscinosis, neuronal 2, classic late infantile"

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

# Family MCID Name MIFTS Score
1
NRN002 Neuronitis 40 2.114
2
P NRN021 Neuronal Ceroid Lipofuscinosis 58 1.812
3
c LTN016 Late-Infantile Neuronal Ceroid Lipofuscinosis 42 0.955
4
ALR002 Al-Raqad Syndrome 36 0.491
5
CRB009 Cerebritis 36 0.485
6
P ATX004 Ataxia 53 0.458
7
RTN023 Retinitis 49 0.454
8
P EPL164 Epilepsy 60 0.427
9
LYS002 Lysosomal Storage Disease 51 0.414
10
P AXN010 Axenfeld-Rieger Syndrome, Type 3 52 0.401
11
P CRB088 Cerebral Atrophy 40 0.332
12
LPD008 Lipid Metabolism Disorder 42 0.310
13
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 59 0.308
14
c INH020 Inherited Metabolic Disorder 49 0.284
15
MYC033 Myoclonus 41 0.277
16
HPT074 Hepatic Adenoma, Somatic 35 0.265
17
NTR005 Nutritional Deficiency Disease 51 0.262
18
P ENC018 Encephalopathy 59 0.259
19
P RTN016 Retinal Degeneration 50 0.259
20
P MYP004 Myopathy 67 0.257
21
P CRD011 Cardiomyopathy 66 0.246
22
GLT021 Glutaricaciduria, Type I 47 0.231
23
17B002 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency 32 0.219
24
P PNC044 Pancreatitis 62 0.218
25
P RTT002 Rett Syndrome 77 0.214
26
P NRV007 Nervous System Disease 71 0.212
27
P GNG009 Gangliosidosis 58 0.210
28
P HYP061 Hypertrophic Cardiomyopathy 64 0.201
29
P KRB001 Krabbe Disease 68 0.192
30
P TRM003 Tremor 54 0.192
31
MTR014 Motor Neuron Disease 57 0.186
32
P CTR002 Cataract 57 0.183
33
c CNG401 Congenital Heart Disease 67 0.178
34
P PRC019 Precocious Puberty 53 0.178
35
P SZR006 Seizure Disorder 56 0.177
36
HMT018 Hematopoietic Stem Cell Transplantation 39 0.176
37
c SPN291 Spinocerebellar Ataxia 7 49 0.176
38
P CRB059 Cerebellar Degeneration 30 0.174
39
VRL011 Viral Infectious Disease 56 0.173
40
PRP027 Peripheral Vascular Disease 69 0.172
41
OTP003 Oto-Palatal-Digital Syndrome 14 0.168
42
P HYD006 Hydrocephalus 68 0.165
43
STR067 Stroke, Ischemic 74 0.157
44
P RSP003 Respiratory Failure 68 0.157
45
AYM001 Ayme-Gripp Syndrome 40 0.156
46
P HYP060 Hyperinsulinism 58 0.153
47
c ACT027 Acute Pancreatitis 59 0.149
48
MDS022 Mediastinitis 37 0.148
49
ANG054 Angina Pectoris 48 0.141
50
CNS004 Constipation 57 0.137
51
WLL001 Williams-Beuren Syndrome 61 0.136
52
BRT030 Birth Defects 44 0.136
53
CNN005 Connective Tissue Disease 60 0.134
54
EXF001 Exfoliation Syndrome 56 0.134
55
ACR041 Acromelic Frontonasal Dysostosis 45 0.134
56
P VNT002 Ventricular Septal Defect 59 0.133
57
P PLY019 Polyneuropathy 53 0.132
58
PLM033 Pulmonary Embolism 59 0.127
59
DRG012 Drug Rash with Eosinophilia and Systemic Symptoms 34 0.127
60
PRP019 Peripheral Nervous System Disease 52 0.125
61
SPL012 Splenic Disease 48 0.125
62
BLD054 Blood Protein Disease 38 0.124
63
RTN018 Retinal Disease 55 0.124
64
ALN001 Aland Island Eye Disease 45 0.123
65
P HYP055 Hypoplastic Left Heart Syndrome 60 0.121
66
PHY002 Physical Disorder 43 0.121
67
CHL004 Cholelithiasis 48 0.121
68
PRD011 Proud Syndrome 42 0.118
69
HPR003 Heparin-Induced Thrombocytopenia 45 0.118
70
CTS005 Catastrophic Antiphospholipid Syndrome 39 0.118
71
ACD009 Acid-Labile Subunit, Deficiency of 37 0.115
72
INC022 Inclusion-Cell Disease 46 0.114
73
c BLD124 Bleeding Disorder, Platelet-Type, 11 37 0.111
74
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 60 0.107
75
PRT014 Protein S Deficiency 54 0.099
76
c OPT055 Optic Atrophy Plus Syndrome 55 0.098