Search results for VARS2

27 hits were found for VARS2

# Family MCID Name MIFTS Score
1
CMB052 Combined Oxidative Phosphorylation Deficiency 20 38 7.255
2
CMB008 Combined Oxidative Phosphorylation Deficiency 35 4.436
3
P MCR010 Microcephaly 59 3.959
4
P EPL164 Epilepsy 71 3.808
5
P PTS002 Ptosis 53 3.109
6
CMB012 Combined Oxidative Phosphorylation Deficiency 1 43 2.319
7
CMB013 Combined Oxidative Phosphorylation Deficiency 2 30 2.267
8
NRD038 Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy 29 2.267
9
MTC005 Mitochondrial Metabolism Disease 49 2.199
10
CMB026 Combined Oxidative Phosphorylation Deficiency 12 47 2.199
11
P PRR025 Perrault Syndrome 41 2.199
12
P HYP061 Hypertrophic Cardiomyopathy 70 0.143
13
P ENC018 Encephalopathy 61 0.143
14
P LCT001 Lactic Acidosis 51 0.143
15
P PLM037 Pulmonary Hypertension 67 0.117
16
P MTC069 Mitochondrial Disorders 56 0.117
17
HYP080 Hypogonadism 50 0.117
18
GRW007 Growth Hormone Deficiency 46 0.117
19
P MTC004 Mitochondrial Encephalomyopathy 44 0.117
20
P HYP265 Hypotonia 43 0.117
21
c ATR087 Atrial Standstill 1 75 0.082
22
STT001 Status Epilepticus 60 0.082
23
PTH003 Pathologic Nystagmus 52 0.082
24
MTB004 Metabolic Acidosis 50 0.082
25
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.082
26
HYP264 Hypertonia 38 0.082
27
CMB051 Combined Oxidative Phosphorylation Deficiency 21 20 0.082
Content
Loading form....