Search results for "[genes] CPT2"

18 hits were found for '[genes] CPT2'

# Family MCID Name MIFTS Score
1
CPT004 Cpt Deficiency, Hepatic, Type Ii 52 23.762
2
HYP056 Hypoglycemia 61 17.711
3
MYP007 Myopathy Due to Cpt Ii Deficiency 27 17.711
4
ENC036 Encephalopathy, Acute, Infection-Induced, 4 23 17.711
5
P MYG005 Myoglobinuria 34 15.841
6
CPT005 Cpt Ii Deficiency, Lethal Neonatal 24 15.841
7
c DLT002 Dilated Cardiomyopathy 75 13.719
8
P CRD011 Cardiomyopathy 67 13.719
9
MCR264 Mcardle Disease 57 13.719
10
MLG056 Malignant Hyperthermia 57 13.719
11
DND001 Dandy-Walker Syndrome 44 13.719
12
c GLY007 Glycogen Storage Disease Iv 52 11.201
13
P GLT023 Glutaric Acidemia Iic 52 11.201
14
CRN239 Carnitine Deficiency, Systemic Primary 50 11.201
15
CRN041 Carnitine-Acylcarnitine Translocase Deficiency 42 11.201
16
FTT003 Fatty Acid Oxidation Disorders 38 11.201
17
c MYG003 Myoglobinuria Recurrent 22 11.201
18
c INF157 Infection-Induced Acute Encephalopathy 4, Susceptibility 9 7.921