Search results for "[genes] DOK7"

15 hits were found for '[genes] DOK7'

# Family MCID Name MIFTS Score
1
P CNG001 Congenital Myasthenic Syndrome 53 24.380
2
c MYS052 Myasthenic Syndrome, Congenital, 10 25 21.501
3
P FTL009 Fetal Akinesia Deformation Sequence 51 18.172
4
NRM006 Neuromuscular Junction Disease 28 16.253
5
NRM005 Neuromuscular Disease 45 14.076
6
P PTS002 Ptosis 42 14.076
7
CYS002 Cystic Lymphangioma 39 11.493
8
HYD001 Hydranencephaly 33 11.493
9
ANT007 Anterior Horn Cell Disease 30 11.493
10
c ATM017 Autoimmune Disease of the Nervous System 26 11.493
11
c DK7002 Dok7-Related Fetal Akinesia Deformation Sequence 16 11.493
12
P DST002 Distal Arthrogryposis 59 8.127
13
P PST063 Postsynaptic Congenital Myasthenic Syndromes 24 8.127
14
c RPS002 Rapsn-Related Fetal Akinesia Deformation Sequence 16 8.127
15
c DK7001 Dok7-Related Congenital Myasthenic Syndrome 8 8.127