Search results for "RAPSN"

27 hits were found for 'RAPSN'

# Family MCID Name MIFTS Score
1
c RPS001 Rapsn-Related Congenital Myasthenic Syndrome 40 9.594
2
c RPS002 Rapsn-Related Fetal Akinesia Deformation Sequence 7 9.594
3
P FTL009 Fetal Akinesia Deformation Sequence 56 7.876
4
CNG113 Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency 38 6.392
5
MYS020 Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency 26 6.392
6
P MYS003 Myasthenia Gravis 78 4.560
7
c PTR004 Pterygium 43 3.250
8
PLY012 Polyhydramnios 54 3.196
9
CNG114 Congenital Myasthenic Syndrome with Episodic Apnea 58 2.330
10
P MLT055 Multiple Pterygium Syndrome Lethal Type 46 2.260
11
MYS017 Myasthenia, Limb-Girdle, Familial 39 2.260
12
P CNG001 Congenital Myasthenic Syndrome 53 0.239
13
c HYP086 Hypothyroidism 69 0.085
14
P SHR002 Short Stature 68 0.085
15
c THY032 Thyroiditis 66 0.085
16
c HPT021 Hepatitis 64 0.085
17
c CNG006 Congenital Hypothyroidism 64 0.085
18
LRN003 Learning Disability 63 0.085
19
P GTR002 Goiter 62 0.085
20
CHL068 Cholestasis 59 0.085
21
P DWR001 Dwarfism 55 0.085
22
CNS004 Constipation 54 0.085
23
THR013 Thoracic Outlet Syndrome 52 0.085
24
MCR037 Macroglossia 47 0.085
25
PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 42 0.085
26
HYP265 Hypotonia 41 0.085
27
NTR005 Nutritional Deficiency Disease 33 0.085