Search results for frrs1l

Showing 25 of 48 hits for frrs1l
# Family MCID Name MIFTS Score
1
c DVL063 Developmental and Epileptic Encephalopathy 37 30 60.323
2
CHR073 Choreatic Disease 54 21.643
3
P ENC018 Encephalopathy 64 16.245
4
P DVL113 Developmental and Epileptic Encephalopathy 51 12.832
5
P ERL057 Early Infantile Epileptic Encephalopathy 62 12.503
6
CNT063 Continuous Spike-Wave During Slow Sleep Syndrome 43 10.079
7
c ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 29 8.558
8
c HNT010 Huntington Disease-Like 1 46 7.999
9
JPN001 Japanese Spotted Fever 23 7.999
10
c EPL165 Epilepsy, Idiopathic Generalized 14 30 7.999
11
CHR043 Chronic Inflammatory Demyelinating Polyneuritis 19 7.999
12
P DYS021 Dysautonomia 36 7.999
13
P ZLL001 Zellweger Syndrome 64 7.999
14
P MVM001 Movement Disease 62 2.063
15
EPL258 Epilepsy, Focal, with Speech Disorder and with or Without Impaired Intellectual Development 61 1.520
16
ACR006 Aceruloplasminemia 69 1.264
17
LNN001 Lennox-Gastaut Syndrome 57 1.191
18
WST001 West Syndrome 64 1.191
19
HYP265 Hypotonia 46 1.191
20
CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 60 1.102
21
P EPL164 Epilepsy 71 1.102
22
VSL002 Visual Epilepsy 47 1.102
23
CHL079 Children's Interstitial Lung Disease 23 1.102
24
STT001 Status Epilepticus 59 1.045
25
P BRS047 Breast Cancer 97 0.642
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