Mitochondria Phenome Knowledgebase

Phenotypic Feature Mental-retardation finds 72 Gene-Feature associations that are associated with 68 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
AASS 238700 Mental-retardation mentally slow neurologic 5796356
AASS 268700 Mental-retardation moderately neurologic 5690339
ABAT 137150 Mental-retardation neurologic 6148708
ACAT1 203750 Mental-retardation about one third of patients neurologic 11161836
ACSL4 300387 Mental-retardation severe; nonspecific; low IQ; thought problems neurologic 11889465 12525535
ALDH18A1 138250 Mental-retardation mentally retarded neurologic 11092761 15517380
ALDH5A1 271980 Mental-retardation mild; severe; variable degrees of mental retardation neurologic 9093300 9683595 12743223 14512218
AMT 605899 Mental-retardation severe neurologic 8005589
ATPAF2 604273 Mental-retardation neurologic 14757859
AUH 250950 Mental-retardation moderate neurologic 9762598
BCKDHA 248600 Mental-retardation neurologic 1885764 2060625 2703538 7672509 8161368 14567968
BCKDHB 248600 Mental-retardation neurologic 7672509 8161368 11448970 14567968
BCS1L 124000 Mental-retardation neurologic 11528392
CLN3 204200 Mental-retardation mentally retarded; mental decline; mental deterioration; IQ decline neurologic 7553855 9311735 9392580 15634309
CPOX 121300 Mental-retardation neurologic 15896662
CPS1 237300 Mental-retardation neurologic 6465866 8486760 9309714 9711878 15617192
CPT1A 255120 Mental-retardation moderate; low average intellectual abilities; mental status altered neurologic 11350182 15669684
CYB5R3 250800 Mental-retardation intelligence quotient reduced; methemoglobinemia type II related neurologic 2107882 7718898 8119939 8874222 9266404 15744830 16304354
CYBA 233690 Mental-retardation neurologic 1763037
CYP27A1 213700 Mental-retardation mental deficiency neurologic 3344851 5676919 7315872 7915755 9186905 10519880 11464194 11903362 12000359 14572142 15147532 16278884
DBT 248600 Developmental-delay psychomotor retardation; developmental retardation; psychomotor developmental delay neurologic 9239422 9621512 14508502 14741190 14742428 16786533
DBT 248600 Mental-retardation neurologic 9239422 9621512 14567968 14742428
DLD 248600 Mental-retardation mild neurologic 12925875
DMPK 160900 Mental-retardation congenital; detorioration; mild; severe; global; cognitive impairment neurologic 1301924 8421476 9402536 10323316 12601109 12639730 14726854 15596617 15770660
DNAJC19 608977 Mental-retardation borderline; mild neurologic 16055927
ECGF1 603041 Mental-retardation neurologic 14720311
ETHE1 602473 Mental-retardation neurologic 1683940
FH 606812 Mental-retardation neurologic 16156009
GATM 602360 Mental-retardation mild; moderate; severe to moderate neurologic 10762163 11555793 12324495 12468279
GCDH 231670 Mental-retardation neurologic 7564239 7795610
GCSH 605899 Mental-retardation neurologic 12402263
GK 307030 Mental-retardation low average IQ score neurologic 8651297 11479736 15026783
GLDC 605899 Mental-retardation variable neurologic 1634607 12402263 15824356 15851735 16450403
GLUD1 606762 Mental-retardation borderline; low intelligence; mild neurologic 9108870 11214910 11297618 16151898
HADH 231530 Mental-retardation mentally retarded neurologic 14693719
HADHA 609016 Mental-retardation neurologic 9003853
HLCS 253270 Mental-retardation neurologic 12855220
HSD17B10 300438 Mental-retardation neurologic 11102558
IVD 243500 Mental-retardation mild to moderate mental retardation neurologic 9673537 10677295 16602101
MAOA 309850 Mental-retardation mild; nondysmorphic; lower intelligence quotients neurologic 8211186 12919132
MCCC2 210210 Mental-retardation neurologic 8831079 11181649
MFN2 609260 Mental-retardation mild retardation neurologic 15549395
MPV17 251880 Mental-retardation neurologic 16582910
MPV17 256810 Mental-retardation academic difficulties neurologic 10518083
MTRR 236270 Mental-retardation neurologic 10484769 12555939 15714522
MUT 251000 Mental-retardation variable; moderate; mild neurologic 12402345 15781199 16186538
NAGS 237310 Mental-retardation below average IQ neurologic 9877039 12594532 12754705
NDUFS8 252010 Mental-retardation mentally retarded neurologic 16142472
OAT 258870 Mental-retardation mild neurologic 711502 8295414 8701494 15159649
OPA3 258501 Mental-retardation cognitive defect; mild neurologic 7510656 9097959 11668429
OTC 311250 Mental-retardation neurologic 3945292 10885542 11260212
PC 266150 Mental-retardation moderately retarded; mentally retarded neurologic 6422150 6424438 9585002
PCCA 606054 Developmental-delay psychomotor delay; developmental retardation neurologic 9683601 10101253 10780784 15464417 15614906
PCCA 606054 Mental-retardation neurologic 10780784 12559849
PCCB 606054 Developmental-delay psychomotor delay; developmental retardation neurologic 9683601 10488817 10780784 12409268 15464417 15614906
PCCB 606054 Mental-retardation neurologic 10488817 10780784 12559849
PDHA1 312170 Mental-retardation severe; mild neurologic 8504306 9686362 10486093 11870584
PDHX 245349 Mental-retardation neurologic 11935326
PEO1 271245 Mental-retardation mentally retarded; intelligence subnormal; mild; moderate; variable neurologic 8133312
POLG 157640 Mental-retardation neurologic 12975295 15351195
PPOX 176200 Mental-retardation neurologic 2317449 9540991
PUS1 600462 Mental-retardation neurologic 7726239 15971356
RMRP 607095 Mental-retardation mild neurologic 8723091 16252239
SLC25A13 603471 Mental-retardation mentally retarded neurologic 11153906 12512993
SLC25A15 238970 Mental-retardation learning difficulties; subnormal intelligence; confusion neurologic 1432421 10805333 11355015 11552031 11814739 16376511
SPAST 182601 Mental-retardation rare finding neurologic 8931574 15210521
STAR 201710 Developmental-delay psychomental retardation neurologic 10323391 16118340
STAR 201710 Mental-retardation severe neurologic 9141542 9829224 10323391
SUCLA2 609560 Mental-retardation neurologic 15877282
SUOX 272300 Mental-retardation neurologic 9600976 11825068
SURF1 220110 Mental-retardation intellectual deterioration neurologic 10746561 16225813
TAT 276600 Mental-retardation variable; low intelligence neurologic 1357662 2456982 9544843 11589874 11924112 12548382 16318910 16574453
TK2 609560 Mental-retardation mild retardation; cognitive dysfunction neurologic 16504786
WFS1 222300 Mental-retardation neurologic 9817917

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