Mitochondria Phenome Knowledgebase

Phenotypic Feature Hyporeflexia finds 35 Gene-Feature associations that are associated with 35 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCB7 301310 Hyporeflexia hypoactive; deep tendon reflexes abnormal neurologic 11050011
ACADS 201470 Hyporeflexia deep tendon reflexes absent neurologic 9932958 15534767
ACADVL 201475 Hyporeflexia neurologic 11433098
ACSL4 300387 Hyporeflexia reflexes decreased neurologic 11889465
ALDH5A1 271980 Hyporeflexia decreased; areflexia; deep tendon reflexes absent neurologic 9093300 9266358 9683595 12743223 15059623
CLN3 204200 Hyporeflexia hypoactive reflexes neurologic 15032383
COX10 220110 Hyporeflexia deep tendon reflexes disappeared neurologic 2834526
CPT1A 255120 Hyporeflexia decreased tendon reflexes neurologic 9691089
DMPK 160900 Hyporeflexia absent deep tendon reflexes; areflexia; hyporeflexic; hypoactive reflexes neurologic 9521960 10391974 10690232 11424841 11807903 11874420
ECGF1 603041 Hyporeflexia hypoactive; deep tendon reflexes absent; areflexia neurologic 9683610 12177387 14720311 14757860 15742109 16178026 16198108 16294144 16498612 16530527
FXN 229300 Hyporeflexia diminished reflexes; deep tendon reflexes absent; lower extremities; areflexia; lower limb areflexia; areflexic neurologic 4673109 6231891 9326946 9539351 10607838 10767311 12112211 12480086 12745158 12878293 15376485 16344344
GDAP1 214400 Hyporeflexia areflexia; weak deep tendon reflexes; ankle jerks absent neurologic 12499475 12707075 15377708 15944907 16343542
GDAP1 607706 Hyporeflexia areflexia; deep tendon reflexes abnormal neurologic 12821518 15019704 15805163
GDAP1 608340 Hyporeflexia areflexia; deep tendon reflexes abnormal neurologic 12566285
HADHA 609015 Hyporeflexia areflexia; generalized neurologic 15902556
HADHA 609016 Hyporeflexia absent; diminished; deep tendon reflexes absent; areflexia neurologic 8094173 9003853
IVD 243500 Hyporeflexia neurologic 10191353
KIF1B 118210 Hyporeflexia areflexia; depressed; deep tendon reflexes neurologic 9409358 11389829
MCCC1 210200 Hyporeflexia areflexia neurologic 11893004
MCCC2 210210 Hyporeflexia depressed reflexes neurologic 15877210
MFN2 609260 Hyporeflexia areflexia; lower extremities; ankle reflexes absent; deep tendon reflexes abnormal; achilles reflexes absent neurologic 8406488 9409358 10732809 11148244 15064763 15136675 15549395 16043786 16714318
MPV17 256810 Hyporeflexia areflexia neurologic 185990 10518083 11431741
NDUFA12L 252010 Hyporeflexia tendon reflexes absent neurologic 16200211
NDUFS4 252010 Hyporeflexia depressed tendon reflexes; deep tendon reflexes absent neurologic 9463323 12616398
NDUFS6 252010 Hyporeflexia absent Moro; absent grasp reflexes; depressed tendon reflexes neurologic 15372108
OPA3 165300 Hyporeflexia deep tendon reflexes absent; lower extremities neurologic 15342707
OXCT1 245050 Hyporeflexia deep tendon reflexes depressed neurologic 11757586
PARK7 606324 Hyporeflexia areflexia; postural reflex loss neurologic 11462174 12446870
PDHA1 308930 Hyporeflexia areflexia; corneal reflexes diminished; pupil reflexes diminished neurologic 8982956 9187674
PDHA1 312170 Hyporeflexia areflexia; deep tendon reflexes abnormal neurologic 9187674 9686362 15558317 16552546
PDHB 179060 Hyporeflexia reduced reflexes neurologic 15138885
PEO1 271245 Hyporeflexia reflex loss; deep tendon reflexes abnormal neurologic 8133312 8159181 8552218 9879682 16135556
PEO1 607459 Hyporeflexia areflexia; diminished tendon reflexes neurologic 15668446
PEO1 609286 Hyporeflexia absent; deep tendon reflexes absent neurologic 15258213
POLG 157640 Hyporeflexia weak; absent; achilles reflexes absent neurologic 15351195 15534189
POLG 203700 Hyporeflexia deep tendon reflexes absent; areflexia neurologic 15689359
POLG 258450 Hyporeflexia deep tendon reflexes absent; areflexia neurologic 12975295 14694057 15477547 16715201
POLG 607459 Hyporeflexia deep tendon reflexes absent; areflexia neurologic 12565911 15824347
SCO2 604377 Hyporeflexia absent stretch reflex; reflexes decreased neurologic 10805329 14994243 15499950
SLC25A19 607196 Hyporeflexia absent; vestibular ocular reflex neurologic 12185364 12376931
SLC25A20 212138 Hyporeflexia reflexes decreased; areflexia; deep tendon reflexes abnormal neurologic 10876004 15365988
SOD1 105400 Hyporeflexia flexor plantar response absent; ankle jerks absent; absent lower extremities reflexes; absent upper extremities reflexes; variable neurologic 7624031 8907321 9444365 9455977 9455983 12480087 14517684 15851752 16423367
SURF1 220110 Hyporeflexia deep tendon reflexes neurologic 10647889 16225813
TK2 609560 Hyporeflexia areflexia; reduced reflexes; deep tendon reflexes abnormal neurologic 12269728 12391347 12682338 12873860 16504786

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