| Acute encephalopathy |
C1306587 |
ACY1
|
|
|
PCCA
|
|
|
PCCB
|
|
|
RANBP2
|
|
|
SLC22A5
|
|
|
SLC25A15
|
|
|
COG8
|
|
| Encephalopathy, Subacute Necrotizing, Infantile |
C0751267 |
BCS1L
|
|
|
COX10
|
|
|
COX15
|
|
|
ECHS1
|
26099313, 25125611 |
|
NDUFS3
|
14729820 |
|
NDUFS4
|
11181577 |
|
SDHA
|
|
|
SURF1
|
16765830 |
|
TACO1
|
19503089 |
| Encephalopathy, Subacute Necrotizing, Juvenile |
C0751268 |
BCS1L
|
|
|
COX10
|
|
|
COX15
|
|
|
ECHS1
|
26099313, 25125611 |
|
NDUFS3
|
14729820 |
|
NDUFS4
|
11181577 |
|
SDHA
|
|
|
SURF1
|
16765830 |
|
TACO1
|
19503089 |
| ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS |
C1968556 |
MECP2
|
11055898, 20151026, 18021529, 26490184, 11738866, 23421866, 12325033, 11245712, 25634563, 25541993, 10577905, 27442528, 22525432, 11214906, 21831886, 22182064, 25473036, 26418480, 27929079, 20376788, 26647311, 11462237, 10852707, 15737703, 23770565, 19371229, 18337588, 10991688, 11738879, 16473305, 23238081, 23770587, 14974082, 19722030, 17387578, 26604147, 10814718, 14598336, 11913567, 11746022, 11960578, 24511209, 1241840, 12843318, 14649554, 11241840, 10508514, 29618507, 10767337, 22368975, 16077736, 23696494, 19914908, 11738864, 17236109, 11524741, 21982064, 11058114, 18174548, 11238684, 11007980, 24626160, 18332345, 17142618, 26350204, 27465203, 23270700, 10854091, 24283265, 11738883, 17089071, 21160487, 11309367, 15633890, 18477000, 24970834, 22476991, 22923521, 16225173, 21878110, 22497713, 12325019, 12655490, 11309679 |
| Nonprogressive encephalopathy |
C4024950 |
KYNU
|
|
| ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION |
C3280660 |
DNM1L
|
27145208, 17460227, 27604308, 27328748, 26992161, 26604000, 27301544, 29899447, 26825290 |
|
YARS2
|
17460227, 26604000, 27145208 |
|
DYM
|
|
| ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY |
C4540059 |
TRAPPC12
|
28777934 |
| Profound static encephalopathy |
C4024944 |
PNPT1
|
|
|
UNC80
|
|
| ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY |
C4310675 |
NAXE
|
27122014, 27616477, 29884839 |
| ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES |
C4540052 |
LIPT2
|
30914295, 28803783, 28757203 |
| ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 |
C4310726 |
MFF
|
26783368, 22499341, 27604308 |
| DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect |
330050 |
DNM1L
|
|
| MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect |
485421 |
MFF
|
|
| Encephalopathy due to prosaposin deficiency |
139406 |
PSAP
|
|
| Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
293955 |
TPK1
|
|
