Search results for "[genes] CPT2"

21 hits were found for '[genes] CPT2'

# Family MCID Name MIFTS Score
1
CRN183 Carnitine Palmitoyltransferase Ii Deficiency 55 17.469
2
ENC036 Encephalopathy, Acute, Infection-Induced, 4 14 17.469
3
HYP056 Hypoglycemia 60 15.625
4
MYP007 Myopathy Due to Cpt Ii Deficiency 24 15.625
5
CPT004 Cpt Deficiency, Hepatic, Type Ii 15 15.625
6
P CRD011 Cardiomyopathy 68 13.531
7
MLG056 Malignant Hyperthermia 59 13.531
8
MCR264 Mcardle Disease 55 13.531
9
DND001 Dandy-Walker Syndrome 41 13.531
10
P MYG005 Myoglobinuria 33 13.531
11
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 80 11.048
12
CRN239 Carnitine Deficiency, Systemic Primary 49 11.048
13
c GLY007 Glycogen Storage Disease Iv 49 11.048
14
FTT003 Fatty Acid Oxidation Disorders 42 11.048
15
CRN041 Carnitine-Acylcarnitine Translocase Deficiency 40 11.048
16
c MYG003 Myoglobinuria Recurrent 20 11.048
17
CPT005 Cpt Ii Deficiency, Lethal Neonatal 16 11.048
18
CRN253 Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form 14 7.812
19
ACT211 Acute Necrotizing Encephalopathy of Childhood 14 7.812
20
CRN252 Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form 13 7.812
21
CRN251 Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form 12 7.812