Search results for POMT2

58 hits were found for POMT2

# Family MCID Name MIFTS Score
1
c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 30 8.622
2
c CNG557 Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 16 8.407
3
c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 30 8.177
4
c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 45 5.861
5
P MSC005 Muscular Dystrophy 66 4.633
6
WLK001 Walker-Warburg Syndrome 63 4.529
7
c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 61 2.951
8
P MSC002 Muscular Dystrophy-Dystroglycanopathy 35 2.951
10
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 59 2.804
11
MSC077 Muscle Eye Brain Disease 47 2.675
12
P LSS002 Lissencephaly 51 2.491
13
PTR032 Peters-Plus Syndrome 62 2.454
14
c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 64 1.762
15
CNG427 Congenital Muscular Dystrophy with Intellectual Disability 32 1.762
16
CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 29 1.762
17
c CNG411 Congenital Disorder of Glycosylation, Type in 68 1.704
18
P BTH005 Bethlem Myopathy 1 60 1.704
19
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 59 1.704
20
c GLC097 Glaucoma 3, Primary Congenital, a 56 1.704
21
P ULL002 Ullrich Congenital Muscular Dystrophy 1 56 1.704
22
c RGD003 Rigid Spine Muscular Dystrophy 1 54 1.704
23
MSC162 Muscular Dystrophy, Congenital Merosin-Deficient, 1a 54 1.704
24
MSC190 Muscular Disease 51 1.704
25
c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 49 1.704
26
c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 48 1.704
27
c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 47 1.704
28
c CRD097 Cardiomyopathy, Dilated, 1d 45 1.704
29
c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 44 1.704
30
c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 44 1.704
31
c ATS217 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 38 1.704
32
c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 38 1.704
33
HYD007 Hydrophthalmos 35 1.704
34
CBB005 Cobblestone Lissencephaly 31 1.704
35
c CNG031 Congenital Nervous System Abnormality 27 1.704
36
RTN005 Retinal Lattice Degeneration 26 1.704
37
MSC004 Muscle Tissue Disease 25 1.704
38
c ATS332 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 18 1.704
39
P LMB006 Limb-Girdle Muscular Dystrophy 53 0.184
40
c CNG441 Congenital Muscular Dystrophy Due to Dystroglycanopathy 31 0.171
41
P QLT041 Qualitative or Quantitative Defects of Alpha-Dystroglycan 21 0.171
42
P MCR010 Microcephaly 58 0.156
43
P CRB045 Cerebellar Hypoplasia 37 0.139
44
P HYD006 Hydrocephalus 65 0.099
45
MCR013 Microphthalmia 60 0.099
46
NRN016 Neuronal Migration Disorders 40 0.099
47
c CNG546 Congenital Muscular Dystrophy-Dystroglycanopathy Type a 17 0.099
48
LNG099 Lung Disease 61 0.070
49
P STR020 Strabismus 56 0.070
50
P MYP006 Myopia 55 0.070
51
EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 54 0.070
52
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 52 0.070
53
ABL002 Ablepharon-Macrostomia Syndrome 52 0.070
54
DND001 Dandy-Walker Syndrome 49 0.070
55
LRN003 Learning Disability 49 0.070
56
ATS010 Autosomal Recessive Disease 48 0.070
57
ATX019 Ataxia with Vitamin E Deficiency 48 0.070
58
MCH006 Mechanical Strabismus 39 0.070
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