Search results for "ISPD"

21 hits were found for 'ISPD'

# Family MCID Name MIFTS Score
1
ATS114 Autosomal Recessive Limb-Girdle Muscular Dystrophy Due to Ispd Deficiency 7 9.757
2
c ISP001 Ispd-Related Muscle Diseases 6 9.757
3
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 17 7.188
4
WLK001 Walker-Warburg Syndrome 53 5.967
5
c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 49 3.388
6
c MSC002 Muscular Dystrophy-Dystroglycanopathy 40 3.388
7
c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 42 2.396
8
c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 10 2.396
9
c MSC005 Muscular Dystrophy 62 0.155
10
c LMB006 Limb-Girdle Muscular Dystrophy 61 0.155
11
c LSS002 Lissencephaly 57 0.089
12
THR013 Thoracic Outlet Syndrome 52 0.089
13
P NRV007 Nervous System Disease 50 0.089
14
SCH016 Schimke Immunoosseous Dysplasia 47 0.089
15
P MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 46 0.089
16
NRN002 Neuronitis 44 0.089
17
TTR016 Tetra-Amelia Syndrome 42 0.089
18
PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 42 0.089
19
SYN053 Syndromic Diarrhea 34 0.089
20
ERL004 Early Yaws 29 0.089
21
c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 19 0.089