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 9.829
2
c ISP001 Ispd-Related Muscle Diseases 5 9.829
3
WLK001 Walker-Warburg Syndrome 59 8.917
4
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 16 7.781
5
P MSC002 Muscular Dystrophy-Dystroglycanopathy 30 3.440
6
c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 9 3.440
7
CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 17 2.432
8
P MSC005 Muscular Dystrophy 54 0.177
9
P LMB006 Limb-Girdle Muscular Dystrophy 52 0.153
10
P LSS002 Lissencephaly 47 0.088
11
SCH016 Schimke Immunoosseous Dysplasia 46 0.088
12
THR013 Thoracic Outlet Syndrome 45 0.088
13
P NRV007 Nervous System Disease 42 0.088
14
P TRC086 Trichohepatoenteric Syndrome 1 39 0.088
15
ANM028 Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 38 0.088
16
TTR016 Tetra-Amelia Syndrome 36 0.088
17
NRN002 Neuronitis 36 0.088
18
c MSC120 Muscular Dystrophy, Limb-Girdle, Type 2c 33 0.088
19
ERL004 Early Yaws 25 0.088
20
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 17 0.088
21
c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 17 0.088