Search results for "[genes] POMT1"

14 hits were found for '[genes] POMT1'

# Family MCID Name MIFTS Score
1
WLK001 Walker-Warburg Syndrome 55 19.986
2
P MSC005 Muscular Dystrophy 64 19.986
3
c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 29 16.318
4
c MSC124 Muscular Dystrophy, Congenital 57 14.132
5
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 45 14.132
6
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 39 14.132
7
c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 28 14.132
8
MSC077 Muscle Eye Brain Disease 54 14.132
9
CBB005 Cobblestone Lissencephaly 26 11.539
10
c PMT001 Pomt1-Related Muscle Diseases 6 11.539
11
CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 18 8.159
12
CNG427 Congenital Muscular Dystrophy with Intellectual Disability 18 8.159
13
CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 15 8.159
14
c CNG031 Congenital Nervous System Abnormality 39 8.159