Search results for "RAPSN"

26 hits were found for 'RAPSN'

# Family MCID Name MIFTS Score
1
c RPS001 Rapsn-Related Congenital Myasthenic Syndrome 40 9.631
2
c RPS002 Rapsn-Related Fetal Akinesia Deformation Sequence 7 9.631
3
P FTL009 Fetal Akinesia Deformation Sequence 55 7.315
4
CNG113 Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency 36 6.077
5
MYS020 Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency 23 6.077
6
P MYS003 Myasthenia Gravis 78 4.634
7
c PTR004 Pterygium 43 3.302
8
PLY012 Polyhydramnios 54 3.248
9
P MLT055 Multiple Pterygium Syndrome Lethal Type 46 2.297
10
MYS036 Myasthenic Syndrome, Congenital, with Pre- and Postsynaptic Defects 37 2.297
11
P CNG001 Congenital Myasthenic Syndrome 50 0.241
12
c CNG006 Congenital Hypothyroidism 69 0.085
13
c HYP086 Hypothyroidism 69 0.085
14
c THY032 Thyroiditis 66 0.085
15
c HPT021 Hepatitis 64 0.085
16
P SHR002 Short Stature 64 0.085
17
LRN003 Learning Disability 62 0.085
18
P GTR002 Goiter 62 0.085
19
CHL068 Cholestasis 60 0.085
20
P DWR001 Dwarfism 55 0.085
21
CNS004 Constipation 53 0.085
22
THR013 Thoracic Outlet Syndrome 52 0.085
23
MCR037 Macroglossia 46 0.085
24
HYP265 Hypotonia 41 0.085
25
CNG114 Congenital Myasthenic Syndrome with Episodic Apnea 38 0.085
26
NTR005 Nutritional Deficiency Disease 25 0.085