Search results for "POMT1"

21 hits were found for 'POMT1'

# Family MCID Name MIFTS Score
1
WLK001 Walker-Warburg Syndrome 59 7.706
2
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 17 6.235
3
c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 16 5.869
4
P MSC005 Muscular Dystrophy 54 5.240
5
c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 17 3.818
6
MSC077 Muscle Eye Brain Disease 47 3.428
7
c ATS253 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k 12 3.183
8
BRN029 Brain Disease 49 2.938
9
P MSC002 Muscular Dystrophy-Dystroglycanopathy 30 2.938
10
WCK001 Wieacker-Wolff Syndrome 36 2.292
11
CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 20 2.078
12
CNG427 Congenital Muscular Dystrophy with Intellectual Disability 19 2.078
13
CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 17 2.078
14
c PMT001 Pomt1-Related Muscle Diseases 5 2.078
15
P MNT147 Mental Retardation 46 0.122
16
P LMB006 Limb-Girdle Muscular Dystrophy 52 0.086
17
CLF001 Cleft Lip 51 0.086
18
P MCR010 Microcephaly 49 0.086
19
NRN002 Neuronitis 36 0.086
20
NRN016 Neuronal Migration Disorders 26 0.086
21
c MSC121 Muscular Dystrophy, Limb-Girdle, Type 2a 17 0.086