Search results for "[genes] CPT2"

21 hits were found for '[genes] CPT2'

# Family MCID Name MIFTS Score
1
CRN183 Carnitine Palmitoyltransferase Ii Deficiency 51 22.085
2
HYP056 Hypoglycemia 49 17.460
3
ENC036 Encephalopathy, Acute, Infection-Induced, 4 18 17.460
4
MYP007 Myopathy Due to Cpt Ii Deficiency 26 15.616
5
c DLT002 Dilated Cardiomyopathy 73 13.524
6
MLG056 Malignant Hyperthermia 56 13.524
7
P CRD011 Cardiomyopathy 53 13.524
8
MCR264 Mcardle Disease 52 13.524
9
P DND001 Dandy-Walker Syndrome 39 13.524
10
CPT004 Cpt Deficiency, Hepatic, Type Ii 14 13.524
11
CRN252 Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form 14 13.524
12
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 84 11.042
13
CRN239 Carnitine Deficiency, Systemic Primary 50 11.042
14
c GLY007 Glycogen Storage Disease Iv 48 11.042
15
CRN041 Carnitine-Acylcarnitine Translocase Deficiency 43 11.042
16
FTT003 Fatty Acid Oxidation Disorders 33 11.042
17
P MYG003 Myoglobinuria Recurrent 20 11.042
18
CPT005 Cpt Ii Deficiency, Lethal Neonatal 16 11.042
19
CRN253 Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form 15 11.042
20
CRN251 Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form 12 11.042
21
ACT211 Acute Necrotizing Encephalopathy of Childhood 14 7.808