Mitochondria Phenome Knowledgebase

Phenotypic Feature Electroencephalogram-abnormal finds 62 Gene-Feature associations that are associated with 62 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
AASS 238700 Electroencephalogram-abnormal diffuse neurologic 6015890
AASS 268700 Electroencephalogram-abnormal neurologic 5690339
ABAT 137150 Electroencephalogram-abnormal burst suppression patterns neurologic 10407778
ABCD1 300100 Electroencephalogram-abnormal irregular slow waves; predominant in bilateral temporal areas; polyspikes; slow wave complexes neurologic 9702690 10980309
ACADM 201450 Electroencephalogram-abnormal generalised slowing background pattern neurologic 7876853
ACADS 201470 Electroencephalogram-abnormal multifocal seizures; poor background activity neurologic 3571488
ACADSB 610006 Electroencephalogram-abnormal infantile spasms; epileptiform activity neurologic 10832746 16317551
ACAT1 203750 Electroencephalogram-abnormal EEG alterations; EEG abnormalities neurologic 1349518
ALDH4A1 239510 Electroencephalogram-abnormal rhythmic activity reduced; generalized discharges; epileptic features neurologic 2383933 4825691
ALDH5A1 271980 Electroencephalogram-abnormal diffusely; slow; multifocal; sharp and slow waves; epileptiform; paroxysmal abnormalities; focal activities in temporo occipital region; spike wave discharges; spindle asymmetry; spike discharges; focal spikes neurologic 9093300 12743223 14512218 15287248
AMACR 604489 Electroencephalogram-abnormal excess slow activity; superimposed sharp frontoparietal delta activity; bihemispheric epileptiform discharges; generalised slowing; loss of alpha activity neurologic 11861706 15249642
AMT 605899 Electroencephalogram-abnormal burst suppression pattern; EEG neurologic 9600239 15236413 16450403
BCKDHA 248600 Electroencephalogram-abnormal disorganized patter; paroxysmal spikes neurologic 7883996
CLN3 204200 Electroencephalogram-abnormal excess of slower theta activity; multifocal epileptiform discharges; generalized epileptiform discharges; discontinuous background neurologic 9450775 12363103 15032383 16087292
COX10 220110 Electroencephalogram-abnormal generalized slow activity neurologic 2834526
CPS1 237300 Electroencephalogram-abnormal slow dominant background rhythm neurologic 6465866
CPT2 600649 Electroencephalogram-abnormal burst suppression patterns neurologic 11389301
CYP27A1 213700 Electroencephalogram-abnormal disturbance of cerebral activity; abnormal generalized slow T activity; diffuse slowing; paroxysmal discharges; theta activity in the background rhythm neurologic 3344851 7315872 8514861 10775536 12000359 14572142
DGUOK 251880 Electroencephalogram-abnormal positive rolandic sharp waves neurologic 15883261
ETHE1 602473 Electroencephalogram-abnormal polyspike waves; hypsarhythmia neurologic 12382164
FH 606812 Electroencephalogram-abnormal hypsarrhytmia; background activity abnormal; spike wave discharges neurologic 1432428 15221078 16151915
GCDH 231670 Electroencephalogram-abnormal paroxysmal dysrhythmia; dysrhythmia; EEG abnormal neurologic 12473778
GCSH 605899 Electroencephalogram-abnormal burst suppression pattern; EEG neurologic 1671321 12402263
GLDC 605899 Electroencephalogram-abnormal burst suppression pattern; EEG; hypsarrhythmia pattern neurologic 10798358 12402263 15236413 15851735 16450403
GLUD1 606762 Electroencephalogram-abnormal diffuse slowing rhythm; paroxysmal activity neurologic 8769351
HADHA 609016 Electroencephalogram-abnormal background abnormal; hypsarrhythmia; discharges neurologic 9003853 11855930
HD 143100 Electroencephalogram-abnormal low voltage electroencephalogram; discharges; spike discharges; polyspike discharges; marked photosensitivity; irregular EEG; spike neurologic 7845404 8474490 9443350 11524486 12075490 14684349 15338298 15526960
HMGCL 246450 Electroencephalogram-abnormal sharp wave foci; occipital regions neurologic 1886403 9463337
HSD17B10 300438 Electroencephalogram-abnormal hypsarrhythmia pattern; diffuse beta activity; paroxystic pattern; epileptiform discharges neurologic 11102558 12112118 12555940 14729408 16148061
IVD 243500 Electroencephalogram-abnormal low voltage electroencephalogram; delta wave bursts; shock waves neurologic 10191353
MCCC1 210200 Electroencephalogram-abnormal spikes; sharp waves; parietooccipital region abnormal; hypsarrhythmia neurologic 10485305 15359379 15868465
MCCC2 210210 Electroencephalogram-abnormal hypsarrhythmia; epileptic activity; amplitude depression neurologic 1293382 8831079 11181649 15877210
ME2 600669 Electroencephalogram-abnormal generalized; bilateral; synchronous; symmetrical discharge; spikes; multispike waves neurologic 15532013
MLYCD 248360 Electroencephalogram-abnormal diffuse; irregular activity; sharp waves neurologic 9177981
MTRR 236270 Electroencephalogram-abnormal generalized neurologic 12555939
NAGS 237310 Electroencephalogram-abnormal bilateral; occipital; high voltage delta activity; diffuse slowing; spikes neurologic 7623444 9877039 12754705 15714518
NDUFS4 252010 Electroencephalogram-abnormal background activity abnormal; parietal regions abnormal; frontal regions abnormal; low voltage neurologic 14765537
NDUFS8 252010 Electroencephalogram-abnormal occipital spikes; spikes and waves; background activity abnormal; slow dysrhythmic neurologic 16142472
OAT 258870 Electroencephalogram-abnormal slowing of background activity; focal lesions; high amplitude beta rhythm; epileptiform activity neurologic 10430418 10604138 15159649
OPA3 258501 Electroencephalogram-abnormal 3 neurologic 12126933
OTC 311250 Electroencephalogram-abnormal diffuse suppression neurologic 12647200
PC 266150 Electroencephalogram-abnormal hypsarrhythmia; subintrant crisis; multifocal spikes; multiple polyspikes; irregular changes neurologic 7503391 16278852
PCCA 606054 Electroencephalogram-abnormal generalized; delta activity neurologic 15164333
PCCB 606054 Electroencephalogram-abnormal dysrythmic pattern; nonspecific slowing; hypsarrhythmia; high voltage irregular delta slowing neurologic 6820422 9461363 9683601 12409268 16324621
PDHA1 312170 Electroencephalogram-abnormal slowing; epileptic discharges; hypsarrythmia; burst suppression pattern neurologic 10486093 11870584 14635113
PEO1 271245 Electroencephalogram-abnormal background activity abnormal; slow wave focus; slow and spike wave burst neurologic 8133312 9879682
POLG 203700 Electroencephalogram-abnormal high amplitude waves; slow waves; high frequency polyspikes; EEG abnormal neurologic 15689359 16177225 16545482
POLG 258450 Electroencephalogram-abnormal background slowing; occipital EEG focus neurologic 15477547 16638794
POLG 607459 Electroencephalogram-abnormal 3/second spike and wave activity; atypical poly spike and wave complexes neurologic 12565911 15824347
SCO2 604377 Electroencephalogram-abnormal epileptiform discharges; central temporal areas neurologic 10545952 11673586
SDHA 252011 Electroencephalogram-abnormal focal epileptic signs; hypsarrythmia neurologic 16361598
SLC19A2 249270 Electroencephalogram-abnormal spike wave abnormalities; high voltage discharges neurologic 5767338
SLC25A13 603471 Electroencephalogram-abnormal slow waves; triphasic waves neurologic 11153906 12132524 16278034
SLC25A15 238970 Electroencephalogram-abnormal evoked potentials; EEG abnormal; nonspecific interhemispheric asymmetry neurologic 9329423 10369256 11552031 16376511
SLC25A20 212138 Electroencephalogram-abnormal diffuse; amplitudes lowered; slow pattern neurologic 10876004 12801121
SLC25A22 609304 Electroencephalogram-abnormal burst suppression pattern; EEG neurologic 15592994
SPAST 182601 Electroencephalogram-abnormal findings related to primary generalized epilepsia neurologic 15667412
SUCLA2 609560 Electroencephalogram-abnormal generalized slow activity neurologic 15877282
SUOX 272300 Electroencephalogram-abnormal paroxysmal; sharp waves; high voltage attenuation; central vertex abnormal; burst suppression patterns neurologic 10519592 12368985 16140720
SURF1 220110 Electroencephalogram-abnormal poorly developed background activity neurologic 16225813
TAT 276600 Electroencephalogram-abnormal epileptic patterns neurologic 12548382
TAZ 302060 Electroencephalogram-abnormal consistent with severe hypoxic ischemic injury neurologic 16235007
TIMM8A 304700 Electroencephalogram-abnormal excess of theta waves; diffuse distribution neurologic 11405816
TK2 609560 Electroencephalogram-abnormal diffuse abnormalities neurologic 16504786
WFS1 222300 Electroencephalogram-abnormal neurologic 9817917

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