Search results for "[genes] CPT2"

21 hits were found for '[genes] CPT2'

# Family MCID Name MIFTS Score
1
CRN183 Carnitine Palmitoyltransferase Ii Deficiency 51 17.469
2
ENC036 Encephalopathy, Acute, Infection-Induced, 4 18 17.469
3
HYP056 Hypoglycemia 51 15.625
4
MYP007 Myopathy Due to Cpt Ii Deficiency 28 15.625
5
CPT004 Cpt Deficiency, Hepatic, Type Ii 19 15.625
6
P CRD011 Cardiomyopathy 59 13.531
7
MLG056 Malignant Hyperthermia 52 13.531
8
MCR264 Mcardle Disease 51 13.531
9
DND001 Dandy-Walker Syndrome 40 13.531
10
P MYG005 Myoglobinuria 31 13.531
11
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 76 11.048
12
CRN239 Carnitine Deficiency, Systemic Primary 47 11.048
13
c GLY007 Glycogen Storage Disease Iv 45 11.048
14
CRN041 Carnitine-Acylcarnitine Translocase Deficiency 41 11.048
15
FTT003 Fatty Acid Oxidation Disorders 33 11.048
16
CPT005 Cpt Ii Deficiency, Lethal Neonatal 20 11.048
17
c MYG003 Myoglobinuria Recurrent 18 11.048
18
CRN253 Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form 14 7.812
19
CRN252 Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form 13 7.812
20
ACT211 Acute Necrotizing Encephalopathy of Childhood 12 7.812
21
CRN251 Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form 11 7.812