Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of movement (HP:0100022)help
Parent Node:
expand
Abnormal reflex (HP:0031826)help
..Starting node
..expand
Hyperreflexia (HP:0001347)help
Term ID: 1347
Name: Hyperreflexia
Synonym: Increased deep tendon reflexes; Increased reflexes
Definition: Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Comments:
Reference: HP:0001347
Genes and Diseases:
 
       Child Nodes:
........expandBrisk reflexes (HP:0001348) help
........expandClonus (HP:0002169) help
................... HP:0011448 Ankle clonus
................... HP:0011449 Knee clonus
................... HP:0011728 Elbow clonus
........expandLower limb hyperreflexia (HP:0002395) help
................... HP:0007083 Hyperactive patellar reflex
........expandHyperactive deep tendon reflexes (HP:0006801) help
........expandGeneralized hyperreflexia (HP:0007034) help
........expandHyperreflexia proximally (HP:0007054) help
........expandHyperreflexia in upper limbs (HP:0007350) help

 Sister Nodes: 
..expandAbnormal superficial reflex (HP:0031828) help
..expandReduced tendon reflexes (HP:0001315) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001347HP:0001347Hyperreflexia0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome.57
HP:0001347HP:0001347Hyperreflexia0AAAS CL E G H808613666ORPHA:869Triple A syndromeHP:0040283 - Occasional57
HP:0001347HP:0001347Hyperreflexia0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0001347HP:0001347Hyperreflexia0AASS CL E G H1015717366ORPHA:2203Hyperlysinemia15
HP:0001347HP:0001347Hyperreflexia0ABAT CL E G H1823OMIM:613163GABA-transaminase deficiency.120
HP:0001347HP:0001347Hyperreflexia0ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional826
HP:0001347HP:0001347Hyperreflexia0ABCB7 CL E G H2248OMIM:301310Anemia, sideroblastic, and spinocerebellar ataxia.35
HP:0001347HP:0001347Hyperreflexia0ABCB7 CL E G H2248ORPHA:2802X-linked sideroblastic anemia and spinocerebellar ataxiaHP:0040282 - Frequent35
HP:0001347HP:0001347Hyperreflexia0ABCC8 CL E G H683359OMIM:240800Hypoglycemia of infancy, leucine-sensitive.245
HP:0001347HP:0001347Hyperreflexia0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0001347HP:0001347Hyperreflexia0ABCD1 CL E G H21561ORPHA:139399AdrenomyeloneuropathyHP:0040282 - Frequent135
HP:0001347HP:0001347Hyperreflexia0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophy135
HP:0001347HP:0001347Hyperreflexia0ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.50
HP:0001347HP:0001347Hyperreflexia0ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0001347HP:0001347Hyperreflexia0ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiencyHP:0040281 - Very frequent120
HP:0001347HP:0001347Hyperreflexia0ACSL4 CL E G H21823571OMIM:300387MENTAL RETARDATION, X-LINKED 63; MRX6319
HP:0001347HP:0001347Hyperreflexia0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3HP:0040283 - Occasional96
HP:0001347HP:0001347Hyperreflexia0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent116
HP:0001347HP:0001347Hyperreflexia0ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymiaHP:0040283 - Occasional25
HP:0001347HP:0001347Hyperreflexia0ADCY5 CL E G H111236ORPHA:324588Familial dyskinesia and facial myokymiaHP:0040283 - Occasional25
HP:0001347HP:0001347Hyperreflexia0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040282 - Frequent88
HP:0001347HP:0001347Hyperreflexia0ADGRG1 CL E G H92894512OMIM:606854Polymicrogyria, bilateral frontoparietal88
HP:0001347HP:0001347Hyperreflexia0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency118
HP:0001347HP:0001347Hyperreflexia0AFG3L2 CL E G H10939315OMIM:610246Spinocerebellar ataxia 2886
HP:0001347HP:0001347Hyperreflexia0AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 2886
HP:0001347HP:0001347Hyperreflexia0AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional2
HP:0001347HP:0001347Hyperreflexia0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0001347HP:0001347Hyperreflexia0AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional175
HP:0001347HP:0001347Hyperreflexia0AHR CL E G H196348ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional2
HP:0001347HP:0001347Hyperreflexia0AIFM1 CL E G H91318768ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndromeHP:0040282 - Frequent60
HP:0001347HP:0001347Hyperreflexia0AIMP2 CL E G H796520609OMIM:618006Leukodystrophy, hypomyelinating, 171
HP:0001347HP:0001347Hyperreflexia0ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0001347HP:0001347Hyperreflexia0ALDH18A1 CL E G H58329722ORPHA:447753Autosomal dominant spastic paraplegia type 9A89
HP:0001347HP:0001347Hyperreflexia0ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9B89
HP:0001347HP:0001347Hyperreflexia0ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9B89
HP:0001347HP:0001347Hyperreflexia0ALDH18A1 CL E G H58329722OMIM:616603Cutis laxa, autosomal dominant 389
HP:0001347HP:0001347Hyperreflexia0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA.89
HP:0001347HP:0001347Hyperreflexia0ALDH18A1 CL E G H58329722OMIM:601162Spastic paraplegia 9A, autosomal dominant.89
HP:0001347HP:0001347Hyperreflexia0ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessive.89
HP:0001347HP:0001347Hyperreflexia0ALG11 CL E G H44013832456ORPHA:280071ALG11-CDGHP:0040282 - Frequent41
HP:0001347HP:0001347Hyperreflexia0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii.46
HP:0001347HP:0001347Hyperreflexia0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0001347HP:0001347Hyperreflexia0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0001347HP:0001347Hyperreflexia0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il.93
HP:0001347HP:0001347Hyperreflexia0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile.114
HP:0001347HP:0001347Hyperreflexia0ALS2 CL E G H57679443ORPHA:293168Infantile-onset ascending hereditary spastic paralysisHP:0040281 - Very frequent114
HP:0001347HP:0001347Hyperreflexia0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0001347HP:0001347Hyperreflexia0ALS2 CL E G H57679443ORPHA:247604Juvenile primary lateral sclerosisHP:0040281 - Very frequent114
HP:0001347HP:0001347Hyperreflexia0ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile.114
HP:0001347HP:0001347Hyperreflexia0ALS2 CL E G H57679443OMIM:607225Spastic paralysis, infantile-onset ascending.114
HP:0001347HP:0001347Hyperreflexia0AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiency44
HP:0001347HP:0001347Hyperreflexia0AMPD2 CL E G H271469ORPHA:401805Autosomal recessive spastic paraplegia type 63HP:0040282 - Frequent21
HP:0001347HP:0001347Hyperreflexia0AMPD2 CL E G H271469OMIM:615809Pontocerebellar hypoplasia, type 9.21
HP:0001347HP:0001347Hyperreflexia0AMPD2 CL E G H271469OMIM:615686Spastic paraplegia 63, autosomal recessive.21
HP:0001347HP:0001347Hyperreflexia0AMT CL E G H275473OMIM:605899Glycine encephalopathy.56
HP:0001347HP:0001347Hyperreflexia0ANKLE2 CL E G H2314129101ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent3
HP:0001347HP:0001347Hyperreflexia0ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxiaHP:0040282 - Frequent64
HP:0001347HP:0001347Hyperreflexia0ANO10 CL E G H5512925519OMIM:613728Spinocerebellar ataxia, autosomal recessive 10.64
HP:0001347HP:0001347Hyperreflexia0AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome.13
HP:0001347HP:0001347Hyperreflexia0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent49
HP:0001347HP:0001347Hyperreflexia0AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessive.49
HP:0001347HP:0001347Hyperreflexia0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent48
HP:0001347HP:0001347Hyperreflexia0AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive.48
HP:0001347HP:0001347Hyperreflexia0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent41
HP:0001347HP:0001347Hyperreflexia0AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive.41
HP:0001347HP:0001347Hyperreflexia0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent18
HP:0001347HP:0001347Hyperreflexia0AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive.18
HP:0001347HP:0001347Hyperreflexia0AP5Z1 CL E G H990722197ORPHA:306511Autosomal recessive spastic paraplegia type 48HP:0040282 - Frequent165
HP:0001347HP:0001347Hyperreflexia0APOE CL E G H348613OMIM:607822Alzheimer disease 339
HP:0001347HP:0001347Hyperreflexia0ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional6
HP:0001347HP:0001347Hyperreflexia0ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional3
HP:0001347HP:0001347Hyperreflexia0ARL3 CL E G H403694ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional1
HP:0001347HP:0001347Hyperreflexia0ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional29
HP:0001347HP:0001347Hyperreflexia0ARL6IP1 CL E G H23204697ORPHA:401780Autosomal recessive spastic paraplegia type 611
HP:0001347HP:0001347Hyperreflexia0ARL6IP1 CL E G H23204697OMIM:615685Spastic paraplegia 61, autosomal recessive1
HP:0001347HP:0001347Hyperreflexia0ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy.253
HP:0001347HP:0001347Hyperreflexia0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1.166
HP:0001347HP:0001347Hyperreflexia0ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2.166
HP:0001347HP:0001347Hyperreflexia0ASNS CL E G H440753OMIM:615574Asparagine synthetase deficiency.17
HP:0001347HP:0001347Hyperreflexia0ASPA CL E G H443756ORPHA:314918Mild Canavan diseaseHP:0040283 - Occasional48
HP:0001347HP:0001347Hyperreflexia0ASPA CL E G H443756ORPHA:314911Severe Canavan diseaseHP:0040282 - Frequent48
HP:0001347HP:0001347Hyperreflexia0ASPM CL E G H25926619048ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent512
HP:0001347HP:0001347Hyperreflexia0ATAD1 CL E G H8489625903ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent
HP:0001347HP:0001347Hyperreflexia0ATAD1 CL E G H8489625903OMIM:618011Hyperekplexia 4.
HP:0001347HP:0001347Hyperreflexia0ATG5 CL E G H9474589OMIM:617584Spinocerebellar ataxia, autosomal recessive 251
HP:0001347HP:0001347Hyperreflexia0ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 371
HP:0001347HP:0001347Hyperreflexia0ATL1 CL E G H5106211231OMIM:613708Neuropathy, hereditary sensory, type IDHP:0040283 - Occasional71
HP:0001347HP:0001347Hyperreflexia0ATL1 CL E G H5106211231OMIM:182600Spastic paraplegia 3, autosomal dominant.71
HP:0001347HP:0001347Hyperreflexia0ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78HP:0040281 - Very frequent100
HP:0001347HP:0001347Hyperreflexia0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome.100
HP:0001347HP:0001347Hyperreflexia0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndrome100
HP:0001347HP:0001347Hyperreflexia0ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0001347HP:0001347Hyperreflexia0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0001347HP:0001347Hyperreflexia0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0001347HP:0001347Hyperreflexia0ATP5MC3 CL E G H518843OMIM:619681DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0001347HP:0001347Hyperreflexia0ATP5MK CL E G H8483330889OMIM:618683MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0001347HP:0001347Hyperreflexia0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent
HP:0001347HP:0001347Hyperreflexia0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001347HP:0001347Hyperreflexia0ATP6 CL E G H45087414ORPHA:320360MT-ATP6-related mitochondrial spastic paraplegiaHP:0040282 - Frequent
HP:0001347HP:0001347Hyperreflexia0ATP6AP2 CL E G H1015918305OMIM:300911Parkinsonism with spasticity, X-linkedHP:0040283 - Occasional36
HP:0001347HP:0001347Hyperreflexia0ATP6AP2 CL E G H1015918305ORPHA:363654X-linked parkinsonism-spasticity syndrome36
HP:0001347HP:0001347Hyperreflexia0ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 3.3
HP:0001347HP:0001347Hyperreflexia0ATP8A2 CL E G H5176113533ORPHA:1766Dysequilibrium syndromeHP:0040281 - Very frequent24
HP:0001347HP:0001347Hyperreflexia0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0001347HP:0001347Hyperreflexia0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 1.19
HP:0001347HP:0001347Hyperreflexia0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 119
HP:0001347HP:0001347Hyperreflexia0ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 10.9
HP:0001347HP:0001347Hyperreflexia0ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 10HP:0040283 - Occasional9
HP:0001347HP:0001347Hyperreflexia0ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 211
HP:0001347HP:0001347Hyperreflexia0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 1HP:0040282 - Frequent14
HP:0001347HP:0001347Hyperreflexia0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 2HP:0040282 - Frequent14
HP:0001347HP:0001347Hyperreflexia0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040282 - Frequent14
HP:0001347HP:0001347Hyperreflexia0ATXN7 CL E G H631410560OMIM:164500Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II8
HP:0001347HP:0001347Hyperreflexia0ATXN7 CL E G H631410560ORPHA:94147Spinocerebellar ataxia type 7HP:0040280 - Obligate8
HP:0001347HP:0001347Hyperreflexia0ATXN8 CL E G H72406632925ORPHA:98760Spinocerebellar ataxia type 8HP:0040282 - Frequent1
HP:0001347HP:0001347Hyperreflexia0ATXN8OS CL E G H631510561ORPHA:98760Spinocerebellar ataxia type 8HP:0040282 - Frequent1
HP:0001347HP:0001347Hyperreflexia0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I.49
HP:0001347HP:0001347Hyperreflexia0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040283 - Occasional61
HP:0001347HP:0001347Hyperreflexia0B4GALNT1 CL E G H25834117ORPHA:101006Autosomal recessive spastic paraplegia type 26HP:0040282 - Frequent25
HP:0001347HP:0001347Hyperreflexia0B4GALNT1 CL E G H25834117OMIM:609195Spastic paraplegia 26, autosomal recessive.25
HP:0001347HP:0001347Hyperreflexia0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001347HP:0001347Hyperreflexia0BBS1 CL E G H582966ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional114
HP:0001347HP:0001347Hyperreflexia0BBS2 CL E G H583967ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional97
HP:0001347HP:0001347Hyperreflexia0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0001347HP:0001347Hyperreflexia0BCAT2 CL E G H587977OMIM:618850HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0001347HP:0001347Hyperreflexia0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001347HP:0001347Hyperreflexia0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 1.72
HP:0001347HP:0001347Hyperreflexia0BEAN1 CL E G H14622724160ORPHA:217012Spinocerebellar ataxia type 31HP:0040283 - Occasional1
HP:0001347HP:0001347Hyperreflexia0BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional182
HP:0001347HP:0001347Hyperreflexia0BICD2 CL E G H2329917208ORPHA:363454BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophyHP:0040283 - Occasional46
HP:0001347HP:0001347Hyperreflexia0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominantHP:0040283 - Occasional46
HP:0001347HP:0001347Hyperreflexia0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.20
HP:0001347HP:0001347Hyperreflexia0BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatal.20
HP:0001347HP:0001347Hyperreflexia0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0001347HP:0001347Hyperreflexia0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0001347HP:0001347Hyperreflexia0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0001347HP:0001347Hyperreflexia0BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17HP:0040282 - Frequent105
HP:0001347HP:0001347Hyperreflexia0BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040283 - Occasional105
HP:0001347HP:0001347Hyperreflexia0BSCL2 CL E G H2658015832OMIM:615924Encephalopathy, progressive, with or without lipodystrophy.105
HP:0001347HP:0001347Hyperreflexia0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040282 - Frequent105
HP:0001347HP:0001347Hyperreflexia0BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17.105
HP:0001347HP:0001347Hyperreflexia0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001347HP:0001347Hyperreflexia0C19ORF12 CL E G H8363625443ORPHA:320370Autosomal recessive spastic paraplegia type 43114
HP:0001347HP:0001347Hyperreflexia0C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegeneration114
HP:0001347HP:0001347Hyperreflexia0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.114
HP:0001347HP:0001347Hyperreflexia0C19ORF12 CL E G H8363625443OMIM:615043Spastic paraplegia 43, autosomal recessive.114
HP:0001347HP:0001347Hyperreflexia0C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0001347HP:0001347Hyperreflexia0C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional56
HP:0001347HP:0001347Hyperreflexia0CA4 CL E G H7621375ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional23
HP:0001347HP:0001347Hyperreflexia0CA8 CL E G H7671382ORPHA:1766Dysequilibrium syndromeHP:0040281 - Very frequent8
HP:0001347HP:0001347Hyperreflexia0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0001347HP:0001347Hyperreflexia0CACNA1A CL E G H7731388OMIM:617106Epileptic encephalopathy, early infantile, 42.449
HP:0001347HP:0001347Hyperreflexia0CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6HP:0040282 - Frequent449
HP:0001347HP:0001347Hyperreflexia0CACNA1E CL E G H7771392OMIM:618285Developmental and epileptic encephalopathy 69.11
HP:0001347HP:0001347Hyperreflexia0CACNA1G CL E G H89131394OMIM:616795Spinocerebellar ataxia 42HP:0040283 - Occasional32
HP:0001347HP:0001347Hyperreflexia0CACNA1G CL E G H89131394OMIM:618087Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits.32
HP:0001347HP:0001347Hyperreflexia0CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0001347HP:0001347Hyperreflexia0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability34
HP:0001347HP:0001347Hyperreflexia0CAPN1 CL E G H8231476ORPHA:488594Autosomal recessive spastic paraplegia type 764
HP:0001347HP:0001347Hyperreflexia0CAPN1 CL E G H8231476OMIM:616907SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG764
HP:0001347HP:0001347Hyperreflexia0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001347HP:0001347Hyperreflexia0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0001347HP:0001347Hyperreflexia0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia.118
HP:0001347HP:0001347Hyperreflexia0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 7.11
HP:0001347HP:0001347Hyperreflexia0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent247
HP:0001347HP:0001347Hyperreflexia0CCDC88A CL E G H5570425523OMIM:617507Peho-Like syndrome.1
HP:0001347HP:0001347Hyperreflexia0CCDC88C CL E G H44019319967OMIM:616053Spinocerebellar ataxia 40.54
HP:0001347HP:0001347Hyperreflexia0CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 40HP:0040282 - Frequent54
HP:0001347HP:0001347Hyperreflexia0CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0001347HP:0001347Hyperreflexia0CCT5 CL E G H229481618ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegiaHP:0040281 - Very frequent56
HP:0001347HP:0001347Hyperreflexia0CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive.56
HP:0001347HP:0001347Hyperreflexia0CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM33
HP:0001347HP:0001347Hyperreflexia0CDC40 CL E G H5136217350OMIM:619302PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001347HP:0001347Hyperreflexia0CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional147
HP:0001347HP:0001347Hyperreflexia0CDK5RAP2 CL E G H5575518672ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent181
HP:0001347HP:0001347Hyperreflexia0CDK6 CL E G H10211777ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent6
HP:0001347HP:0001347Hyperreflexia0CENPJ CL E G H5583517272ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent161
HP:0001347HP:0001347Hyperreflexia0CEP135 CL E G H966229086ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent38
HP:0001347HP:0001347Hyperreflexia0CEP152 CL E G H2299529298ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent146
HP:0001347HP:0001347Hyperreflexia0CEP63 CL E G H8025425815ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent31
HP:0001347HP:0001347Hyperreflexia0CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional71
HP:0001347HP:0001347Hyperreflexia0CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional
HP:0001347HP:0001347Hyperreflexia0CHCHD2 CL E G H5114221645OMIM:616710Parkinson disease 22, autosomal dominant.3
HP:0001347HP:0001347Hyperreflexia0CHKA CL E G H11191937OMIM:620023
HP:0001347HP:0001347Hyperreflexia0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 8.19
HP:0001347HP:0001347Hyperreflexia0CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional42
HP:0001347HP:0001347Hyperreflexia0CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 7.42
HP:0001347HP:0001347Hyperreflexia0CHP1 CL E G H1126117433OMIM:618438Spastic ataxia 9, autosomal recessive.
HP:0001347HP:0001347Hyperreflexia0CIT CL E G H111131985ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent15
HP:0001347HP:0001347Hyperreflexia0CIT CL E G H111131985OMIM:617090Microcephaly 17, primary, autosomal recessive.15
HP:0001347HP:0001347Hyperreflexia0CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0001347HP:0001347Hyperreflexia0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001347HP:0001347Hyperreflexia0CLN5 CL E G H12032076ORPHA:228360CLN5 diseaseHP:0040282 - Frequent141
HP:0001347HP:0001347Hyperreflexia0CLP1 CL E G H1097816999ORPHA:411493Pontocerebellar hypoplasia type 10HP:0040281 - Very frequent7
HP:0001347HP:0001347Hyperreflexia0CLP1 CL E G H1097816999OMIM:615803Pontocerebellar hypoplasia, type 10.7
HP:0001347HP:0001347Hyperreflexia0CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 7HP:0040282 - Frequent38
HP:0001347HP:0001347Hyperreflexia0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0001347HP:0001347Hyperreflexia0CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional60
HP:0001347HP:0001347Hyperreflexia0CLTRN CL E G H5739329437ORPHA:2116Hartnup diseaseHP:0040281 - Very frequent
HP:0001347HP:0001347Hyperreflexia0CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional44
HP:0001347HP:0001347Hyperreflexia0CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional164
HP:0001347HP:0001347Hyperreflexia0CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0001347HP:0001347Hyperreflexia0CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 3.9
HP:0001347HP:0001347Hyperreflexia0COG4 CL E G H2583918620ORPHA:263501COG4-CDGHP:0040282 - Frequent67
HP:0001347HP:0001347Hyperreflexia0COG5 CL E G H1046614857ORPHA:263487COG5-CDG79
HP:0001347HP:0001347Hyperreflexia0COPB2 CL E G H92762232ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent
HP:0001347HP:0001347Hyperreflexia0COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to.54
HP:0001347HP:0001347Hyperreflexia0COQ5 CL E G H8427428722OMIM:619028COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0001347HP:0001347Hyperreflexia0COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiencyHP:0040283 - Occasional136
HP:0001347HP:0001347Hyperreflexia0COQ8A CL E G H5699716812OMIM:612016Coenzyme Q10 deficiency, primary, 4.136
HP:0001347HP:0001347Hyperreflexia0COQ9 CL E G H5701725302OMIM:614654Coenzyme Q10 deficiency, primary, 5.44
HP:0001347HP:0001347Hyperreflexia0COX10 CL E G H13522260OMIM:619046MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN382
HP:0001347HP:0001347Hyperreflexia0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent104
HP:0001347HP:0001347Hyperreflexia0COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001347HP:0001347Hyperreflexia0COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0001347HP:0001347Hyperreflexia0CPT1C CL E G H12612918540ORPHA:444099Autosomal dominant spastic paraplegia type 73HP:0040281 - Very frequent1
HP:0001347HP:0001347Hyperreflexia0CPT1C CL E G H12612918540OMIM:616282Spastic paraplegia 73, autosomal dominant.1
HP:0001347HP:0001347Hyperreflexia0CRAT CL E G H13842342OMIM:617917Neurodegeneration with brain iron accumulation 8.
HP:0001347HP:0001347Hyperreflexia0CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional156
HP:0001347HP:0001347Hyperreflexia0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0001347HP:0001347Hyperreflexia0CRX CL E G H14062383ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional158
HP:0001347HP:0001347Hyperreflexia0CSF1R CL E G H14362433OMIM:618476Brain abnormalities, neurodegeneration, and dysosteosclerosis.149
HP:0001347HP:0001347Hyperreflexia0CSF1R CL E G H14362433OMIM:221820Leukoencephalopathy, diffuse hereditary, with spheroids.149
HP:0001347HP:0001347Hyperreflexia0CTNNA2 CL E G H14962510OMIM:618174Cortical dysplasia, complex, with other brain malformations 9.2
HP:0001347HP:0001347Hyperreflexia0CTSF CL E G H87222531OMIM:615362Ceroid lipofuscinosis, neuronal, 13.20
HP:0001347HP:0001347Hyperreflexia0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 17.9
HP:0001347HP:0001347Hyperreflexia0CYFIP2 CL E G H2699913760OMIM:618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE651
HP:0001347HP:0001347Hyperreflexia0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040282 - Frequent114
HP:0001347HP:0001347Hyperreflexia0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0001347HP:0001347Hyperreflexia0CYP2U1 CL E G H11361220582ORPHA:320411Autosomal recessive spastic paraplegia type 5618
HP:0001347HP:0001347Hyperreflexia0CYP2U1 CL E G H11361220582OMIM:615030Spastic paraplegia 56, autosomal recessive18
HP:0001347HP:0001347Hyperreflexia0CYP7B1 CL E G H94202652ORPHA:100986Autosomal recessive spastic paraplegia type 5A57
HP:0001347HP:0001347Hyperreflexia0CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessive.57
HP:0001347HP:0001347Hyperreflexia0DARS1 CL E G H16152678OMIM:615281HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0001347HP:0001347Hyperreflexia0DARS2 CL E G H5515725538OMIM:611105Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation.60
HP:0001347HP:0001347Hyperreflexia0DCC CL E G H16302701OMIM:617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS236
HP:0001347HP:0001347Hyperreflexia0DCTN1 CL E G H16392711OMIM:105400Amyotrophic lateral sclerosis 1.86
HP:0001347HP:0001347Hyperreflexia0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0001347HP:0001347Hyperreflexia0DDHD1 CL E G H8082119714ORPHA:101008Autosomal recessive spastic paraplegia type 28HP:0040281 - Very frequent35
HP:0001347HP:0001347Hyperreflexia0DDHD1 CL E G H8082119714OMIM:609340Spastic paraplegia 28, autosomal recessive.35
HP:0001347HP:0001347Hyperreflexia0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive.29
HP:0001347HP:0001347Hyperreflexia0DENND5A CL E G H2325819344OMIM:617281Epileptic encephalopathy, early infantile, 49.6
HP:0001347HP:0001347Hyperreflexia0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type).57
HP:0001347HP:0001347Hyperreflexia0DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional47
HP:0001347HP:0001347Hyperreflexia0DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional1
HP:0001347HP:0001347Hyperreflexia0DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type I
HP:0001347HP:0001347Hyperreflexia0DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiency82
HP:0001347HP:0001347Hyperreflexia0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency.82
HP:0001347HP:0001347Hyperreflexia0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001347HP:0001347Hyperreflexia0DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional6
HP:0001347HP:0001347Hyperreflexia0DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect94
HP:0001347HP:0001347Hyperreflexia0DNMT1 CL E G H17862976ORPHA:314404Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndromeHP:0040283 - Occasional145
HP:0001347HP:0001347Hyperreflexia0DNMT1 CL E G H17862976OMIM:604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant.145
HP:0001347HP:0001347Hyperreflexia0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij.38
HP:0001347HP:0001347Hyperreflexia0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE27
HP:0001347HP:0001347Hyperreflexia0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0001347HP:0001347Hyperreflexia0DSTYK CL E G H2577829043ORPHA:101003Autosomal recessive spastic paraplegia type 23HP:0040282 - Frequent13
HP:0001347HP:0001347Hyperreflexia0DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 23.13
HP:0001347HP:0001347Hyperreflexia0DTYMK CL E G H18413061OMIM:619847
HP:0001347HP:0001347Hyperreflexia0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040283 - Occasional65
HP:0001347HP:0001347Hyperreflexia0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies.1
HP:0001347HP:0001347Hyperreflexia0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent33
HP:0001347HP:0001347Hyperreflexia0EEF2 CL E G H19383214ORPHA:101112Spinocerebellar ataxia type 264
HP:0001347HP:0001347Hyperreflexia0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome8
HP:0001347HP:0001347Hyperreflexia0EIF2S3 CL E G H19683267ORPHA:85282MEHMO syndromeHP:0040282 - Frequent8
HP:0001347HP:0001347Hyperreflexia0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001347HP:0001347Hyperreflexia0ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0001347HP:0001347Hyperreflexia0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0001347HP:0001347Hyperreflexia0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0001347HP:0001347Hyperreflexia0ELOVL1 CL E G H6483414418OMIM:618527Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0001347HP:0001347Hyperreflexia0ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 34.62
HP:0001347HP:0001347Hyperreflexia0ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 586
HP:0001347HP:0001347Hyperreflexia0EMILIN1 CL E G H1111719880OMIM:6200802
HP:0001347HP:0001347Hyperreflexia0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0001347HP:0001347Hyperreflexia0ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0001347HP:0001347Hyperreflexia0ERCC1 CL E G H20673433OMIM:610758Cerebrooculofacioskeletal syndrome 4.20
HP:0001347HP:0001347Hyperreflexia0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0001347HP:0001347Hyperreflexia0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0001347HP:0001347Hyperreflexia0ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B.54
HP:0001347HP:0001347Hyperreflexia0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent158
HP:0001347HP:0001347Hyperreflexia0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0001347HP:0001347Hyperreflexia0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1199
HP:0001347HP:0001347Hyperreflexia0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent199
HP:0001347HP:0001347Hyperreflexia0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040282 - Frequent199
HP:0001347HP:0001347Hyperreflexia0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent55
HP:0001347HP:0001347Hyperreflexia0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040282 - Frequent55
HP:0001347HP:0001347Hyperreflexia0ERLIN1 CL E G H1061316947ORPHA:401785Autosomal recessive spastic paraplegia type 62HP:0040282 - Frequent2
HP:0001347HP:0001347Hyperreflexia0ERLIN1 CL E G H1061316947OMIM:615681Spastic paraplegia 62, autosomal recessive2
HP:0001347HP:0001347Hyperreflexia0ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 18HP:0040281 - Very frequent18
HP:0001347HP:0001347Hyperreflexia0ERLIN2 CL E G H111601356ORPHA:247604Juvenile primary lateral sclerosisHP:0040281 - Very frequent18
HP:0001347HP:0001347Hyperreflexia0ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome18
HP:0001347HP:0001347Hyperreflexia0ERLIN2 CL E G H111601356OMIM:611225Spastic paraplegia 18, autosomal recessive.18
HP:0001347HP:0001347Hyperreflexia0EXOC8 CL E G H14937124659OMIM:619076NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB1
HP:0001347HP:0001347Hyperreflexia0EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0001347HP:0001347Hyperreflexia0EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B.38
HP:0001347HP:0001347Hyperreflexia0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0001347HP:0001347Hyperreflexia0EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0001347HP:0001347Hyperreflexia0EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C4
HP:0001347HP:0001347Hyperreflexia0EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0001347HP:0001347Hyperreflexia0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D.
HP:0001347HP:0001347Hyperreflexia0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0001347HP:0001347Hyperreflexia0EYA1 CL E G H21383519ORPHA:2792Otofaciocervical syndromeHP:0040281 - Very frequent135
HP:0001347HP:0001347Hyperreflexia0EYS CL E G H34600721555ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional209
HP:0001347HP:0001347Hyperreflexia0FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 35HP:0040281 - Very frequent76
HP:0001347HP:0001347Hyperreflexia0FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessive.76
HP:0001347HP:0001347Hyperreflexia0FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional56
HP:0001347HP:0001347Hyperreflexia0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0001347HP:0001347Hyperreflexia0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0001347HP:0001347Hyperreflexia0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0001347HP:0001347Hyperreflexia0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0001347HP:0001347Hyperreflexia0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0001347HP:0001347Hyperreflexia0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0001347HP:0001347Hyperreflexia0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0001347HP:0001347Hyperreflexia0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0001347HP:0001347Hyperreflexia0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0001347HP:0001347Hyperreflexia0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0001347HP:0001347Hyperreflexia0FAR1 CL E G H8418826222ORPHA:447753Autosomal dominant spastic paraplegia type 9A7
HP:0001347HP:0001347Hyperreflexia0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 7736
HP:0001347HP:0001347Hyperreflexia0FARS2 CL E G H1066721062OMIM:617046Spastic paraplegia 77, autosomal recessive.36
HP:0001347HP:0001347Hyperreflexia0FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040283 - Occasional59
HP:0001347HP:0001347Hyperreflexia0FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0001347HP:0001347Hyperreflexia0FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset.36
HP:0001347HP:0001347Hyperreflexia0FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent36
HP:0001347HP:0001347Hyperreflexia0FDX2 CL E G H11281230546OMIM:251900Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathyHP:0040284 - Very rare
HP:0001347HP:0001347Hyperreflexia0FGF13 CL E G H22583670OMIM:301058DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE901
HP:0001347HP:0001347Hyperreflexia0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001347HP:0001347Hyperreflexia0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional157
HP:0001347HP:0001347Hyperreflexia0FLRT1 CL E G H237693760ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0001347HP:0001347Hyperreflexia0FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent61
HP:0001347HP:0001347Hyperreflexia0FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0001347HP:0001347Hyperreflexia0FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional26
HP:0001347HP:0001347Hyperreflexia0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 3.33
HP:0001347HP:0001347Hyperreflexia0FTL CL E G H25123999ORPHA:157846Neuroferritinopathy33
HP:0001347HP:0001347Hyperreflexia0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS43
HP:0001347HP:0001347Hyperreflexia0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0001347HP:0001347Hyperreflexia0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0001347HP:0001347Hyperreflexia0GALC CL E G H25814115ORPHA:206448Adult Krabbe disease160
HP:0001347HP:0001347Hyperreflexia0GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional160
HP:0001347HP:0001347Hyperreflexia0GALC CL E G H25814115OMIM:245200Krabbe disease160
HP:0001347HP:0001347Hyperreflexia0GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 2.91
HP:0001347HP:0001347Hyperreflexia0GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive.121
HP:0001347HP:0001347Hyperreflexia0GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040283 - Occasional
HP:0001347HP:0001347Hyperreflexia0GARS1 CL E G H26174162OMIM:600794Neuronopathy, distal hereditary motor, type VAHP:0040283 - Occasional
HP:0001347HP:0001347Hyperreflexia0GBA1 CL E G H26294177OMIM:230900Gaucher disease, type II.
HP:0001347HP:0001347Hyperreflexia0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040283 - Occasional
HP:0001347HP:0001347Hyperreflexia0GBA2 CL E G H5770418986ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticity30
HP:0001347HP:0001347Hyperreflexia0GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 46HP:0040283 - Occasional30
HP:0001347HP:0001347Hyperreflexia0GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive.30
HP:0001347HP:0001347Hyperreflexia0GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystonia86
HP:0001347HP:0001347Hyperreflexia0GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0001347HP:0001347Hyperreflexia0GCLC CL E G H27294311ORPHA:33574Glutamate-cysteine ligase deficiencyHP:0040283 - Occasional2
HP:0001347HP:0001347Hyperreflexia0GCSH CL E G H26534208OMIM:605899Glycine encephalopathy.5
HP:0001347HP:0001347Hyperreflexia0GDAP2 CL E G H5483418010OMIM:618369Spinocerebellar ataxia, autosomal recessive 27.
HP:0001347HP:0001347Hyperreflexia0GEMIN5 CL E G H2592920043OMIM:619333NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0001347HP:0001347Hyperreflexia0GFAP CL E G H26704235ORPHA:363717Alexander disease type I188
HP:0001347HP:0001347Hyperreflexia0GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0001347HP:0001347Hyperreflexia0GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 1.85
HP:0001347HP:0001347Hyperreflexia0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040283 - Occasional43
HP:0001347HP:0001347Hyperreflexia0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia68
HP:0001347HP:0001347Hyperreflexia0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040282 - Frequent68
HP:0001347HP:0001347Hyperreflexia0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0001347HP:0001347Hyperreflexia0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxiaHP:0040282 - Frequent107
HP:0001347HP:0001347Hyperreflexia0GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessive.37
HP:0001347HP:0001347Hyperreflexia0GLDC CL E G H27314313OMIM:605899Glycine encephalopathy.166
HP:0001347HP:0001347Hyperreflexia0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease45
HP:0001347HP:0001347Hyperreflexia0GLRA1 CL E G H27414326ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent63
HP:0001347HP:0001347Hyperreflexia0GLRB CL E G H27434329ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent46
HP:0001347HP:0001347Hyperreflexia0GLRB CL E G H27434329OMIM:614619Hyperekplexia 2.46
HP:0001347HP:0001347Hyperreflexia0GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemiaHP:0040282 - Frequent17
HP:0001347HP:0001347Hyperreflexia0GLRX5 CL E G H5121820134OMIM:616859Spasticity, childhood-onset, with hyperglycinemia17
HP:0001347HP:0001347Hyperreflexia0GLUL CL E G H27524341OMIM:610015GLUTAMINE DEFICIENCY, CONGENITAL98
HP:0001347HP:0001347Hyperreflexia0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA.6
HP:0001347HP:0001347Hyperreflexia0GM2A CL E G H27604367ORPHA:309246GM2 gangliosidosis, AB variantHP:0040281 - Very frequent69
HP:0001347HP:0001347Hyperreflexia0GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant.69
HP:0001347HP:0001347Hyperreflexia0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome24
HP:0001347HP:0001347Hyperreflexia0GMPPA CL E G H2992622923ORPHA:869Triple A syndromeHP:0040283 - Occasional24
HP:0001347HP:0001347Hyperreflexia0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional34
HP:0001347HP:0001347Hyperreflexia0GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndromeHP:0040282 - Frequent7
HP:0001347HP:0001347Hyperreflexia0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0001347HP:0001347Hyperreflexia0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001347HP:0001347Hyperreflexia0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0001347HP:0001347Hyperreflexia0GPAA1 CL E G H87334446OMIM:617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0001347HP:0001347Hyperreflexia0GPAA1 CL E G H87334446ORPHA:529665Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndromeHP:0040282 - Frequent
HP:0001347HP:0001347Hyperreflexia0GPHN CL E G H1024315465ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent18
HP:0001347HP:0001347Hyperreflexia0GPHN CL E G H1024315465OMIM:615501Molybdenum cofactor deficiency, complementation group C.18
HP:0001347HP:0001347Hyperreflexia0GPT2 CL E G H8470618062OMIM:616281Mental retardation, autosomal recessive 49.4
HP:0001347HP:0001347Hyperreflexia0GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndromeHP:0040282 - Frequent4
HP:0001347HP:0001347Hyperreflexia0GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 9430
HP:0001347HP:0001347Hyperreflexia0GRID2 CL E G H28954576OMIM:616204SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR1818
HP:0001347HP:0001347Hyperreflexia0GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant.108
HP:0001347HP:0001347Hyperreflexia0GRM1 CL E G H29114593ORPHA:324262Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiencyHP:0040281 - Very frequent8
HP:0001347HP:0001347Hyperreflexia0GRM1 CL E G H29114593OMIM:617691SPINOCEREBELLAR ATAXIA 44; SCA448
HP:0001347HP:0001347Hyperreflexia0GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0001347HP:0001347Hyperreflexia0GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0001347HP:0001347Hyperreflexia0GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional126
HP:0001347HP:0001347Hyperreflexia0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0001347HP:0001347Hyperreflexia0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0001347HP:0001347Hyperreflexia0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001347HP:0001347Hyperreflexia0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001347HP:0001347Hyperreflexia0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001347HP:0001347Hyperreflexia0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0001347HP:0001347Hyperreflexia0GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional36
HP:0001347HP:0001347Hyperreflexia0H4C5 CL E G H83674790OMIM:619950
HP:0001347HP:0001347Hyperreflexia0HARS1 CL E G H30354816ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0001347HP:0001347Hyperreflexia0HARS1 CL E G H30354816OMIM:616625Charcot-Marie-Tooth disease, axonal, type 2W
HP:0001347HP:0001347Hyperreflexia0HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0001347HP:0001347Hyperreflexia0HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0001347HP:0001347Hyperreflexia0HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional86
HP:0001347HP:0001347Hyperreflexia0HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiencyHP:0040282 - Frequent32
HP:0001347HP:0001347Hyperreflexia0HIKESHI CL E G H5150126938OMIM:616881Leukodystrophy, hypomyelinating, 13.3
HP:0001347HP:0001347Hyperreflexia0HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040283 - Occasional4
HP:0001347HP:0001347Hyperreflexia0HPDL CL E G H8484228242OMIM:619027SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0001347HP:0001347Hyperreflexia0HPRT1 CL E G H32515157ORPHA:79233Hypoxanthine guanine phosphoribosyltransferase partial deficiencyHP:0040283 - Occasional76
HP:0001347HP:0001347Hyperreflexia0HPRT1 CL E G H32515157OMIM:300322Lesch-Nyhan syndrome.76
HP:0001347HP:0001347Hyperreflexia0HRAS CL E G H32655173ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent113
HP:0001347HP:0001347Hyperreflexia0HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0001347HP:0001347Hyperreflexia0HSPD1 CL E G H33295261ORPHA:100994Autosomal dominant spastic paraplegia type 13HP:0040282 - Frequent46
HP:0001347HP:0001347Hyperreflexia0HSPD1 CL E G H33295261OMIM:612233Leukodystrophy, hypomyelinating, 4.46
HP:0001347HP:0001347Hyperreflexia0HSPD1 CL E G H33295261OMIM:605280Spastic paraplegia 13, autosomal dominant.46
HP:0001347HP:0001347Hyperreflexia0HTRA1 CL E G H56549476OMIM:600142Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).34
HP:0001347HP:0001347Hyperreflexia0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII39
HP:0001347HP:0001347Hyperreflexia0HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional39
HP:0001347HP:0001347Hyperreflexia0HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040281 - Very frequent12
HP:0001347HP:0001347Hyperreflexia0HTT CL E G H30644851OMIM:143100Huntington disease.12
HP:0001347HP:0001347Hyperreflexia0HTT CL E G H30644851ORPHA:248111Juvenile Huntington diseaseHP:0040282 - Frequent12
HP:0001347HP:0001347Hyperreflexia0HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome.12
HP:0001347HP:0001347Hyperreflexia0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type.98
HP:0001347HP:0001347Hyperreflexia0HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5.
HP:0001347HP:0001347Hyperreflexia0IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 7416
HP:0001347HP:0001347Hyperreflexia0IBA57 CL E G H20020527302OMIM:616451Spastic paraplegia 74, autosomal recessive.16
HP:0001347HP:0001347Hyperreflexia0IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional
HP:0001347HP:0001347Hyperreflexia0IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional30
HP:0001347HP:0001347Hyperreflexia0IER3IP1 CL E G H5112418550OMIM:614231Microcephaly, epilepsy, and diabetes syndrome6
HP:0001347HP:0001347Hyperreflexia0IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040283 - Occasional60
HP:0001347HP:0001347Hyperreflexia0IFRD1 CL E G H34755456ORPHA:98771Spinocerebellar ataxia type 181
HP:0001347HP:0001347Hyperreflexia0IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional148
HP:0001347HP:0001347Hyperreflexia0IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional48
HP:0001347HP:0001347Hyperreflexia0IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional3
HP:0001347HP:0001347Hyperreflexia0IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0001347HP:0001347Hyperreflexia0IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0001347HP:0001347Hyperreflexia0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0001347HP:0001347Hyperreflexia0IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0001347HP:0001347Hyperreflexia0IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional52
HP:0001347HP:0001347Hyperreflexia0IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystonia1
HP:0001347HP:0001347Hyperreflexia0IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional4
HP:0001347HP:0001347Hyperreflexia0IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional120
HP:0001347HP:0001347Hyperreflexia0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent111
HP:0001347HP:0001347Hyperreflexia0IREB2 CL E G H36586115OMIM:618451Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia.
HP:0001347HP:0001347Hyperreflexia0IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0001347HP:0001347Hyperreflexia0ISCA1 CL E G H8168928660OMIM:617613Multiple mitochondrial dysfunctions syndrome 5.1
HP:0001347HP:0001347Hyperreflexia0ISCA2 CL E G H12296119857OMIM:616370Multiple mitochondrial dysfunctions syndrome 4.7
HP:0001347HP:0001347Hyperreflexia0ITPR1 CL E G H37086180OMIM:606658Spinocerebellar ataxia 15.177
HP:0001347HP:0001347Hyperreflexia0ITPR1 CL E G H37086180ORPHA:98769Spinocerebellar ataxia type 15/16HP:0040282 - Frequent177
HP:0001347HP:0001347Hyperreflexia0JAM2 CL E G H5849414686OMIM:618824BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0001347HP:0001347Hyperreflexia0JAM3 CL E G H8370015532OMIM:613730Hemorrhagic destruction of the brain, subependymal calcification,and cataracts.4
HP:0001347HP:0001347Hyperreflexia0JPH3 CL E G H5733814203OMIM:606438Huntington disease-like 2.2
HP:0001347HP:0001347Hyperreflexia0JPH3 CL E G H5733814203ORPHA:98934Huntington disease-like 2HP:0040283 - Occasional2
HP:0001347HP:0001347Hyperreflexia0KATNB1 CL E G H103006217OMIM:616212Lissencephaly 6, with microcephaly10
HP:0001347HP:0001347Hyperreflexia0KCNA1 CL E G H37366218OMIM:160120Episodic ataxia, type 1.145
HP:0001347HP:0001347Hyperreflexia0KCNC3 CL E G H37486235OMIM:605259Spinocerebellar ataxia 13.17
HP:0001347HP:0001347Hyperreflexia0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040282 - Frequent17
HP:0001347HP:0001347Hyperreflexia0KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 19HP:0040283 - Occasional35
HP:0001347HP:0001347Hyperreflexia0KCND3 CL E G H37526239ORPHA:98772Spinocerebellar ataxia type 19/22HP:0040282 - Frequent35
HP:0001347HP:0001347Hyperreflexia0KCNJ18 CL E G H10013444439080OMIM:613239Thyrotoxic periodic paralysis, susceptibility to, 210
HP:0001347HP:0001347Hyperreflexia0KCNJ6 CL E G H37636267OMIM:614098Keppen-Lubinsky syndrome.3
HP:0001347HP:0001347Hyperreflexia0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040281 - Very frequent3
HP:0001347HP:0001347Hyperreflexia0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome.
HP:0001347HP:0001347Hyperreflexia0KCNQ2 CL E G H37856296ORPHA:1949Benign familial neonatal epilepsy528
HP:0001347HP:0001347Hyperreflexia0KCNQ3 CL E G H37866297ORPHA:1949Benign familial neonatal epilepsy302
HP:0001347HP:0001347Hyperreflexia0KCNT1 CL E G H5758218865OMIM:614959Epileptic encephalopathy, early infantile, 14.321
HP:0001347HP:0001347Hyperreflexia0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0001347HP:0001347Hyperreflexia0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0001347HP:0001347Hyperreflexia0KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutationHP:0040282 - Frequent81
HP:0001347HP:0001347Hyperreflexia0KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional
HP:0001347HP:0001347Hyperreflexia0KIDINS220 CL E G H5749829508OMIM:617296SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO4
HP:0001347HP:0001347Hyperreflexia0KIF14 CL E G H992819181ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent9
HP:0001347HP:0001347Hyperreflexia0KIF1A CL E G H547888ORPHA:101010Autosomal spastic paraplegia type 30276
HP:0001347HP:0001347Hyperreflexia0KIF1A CL E G H547888OMIM:614255Mental retardation, autosomal dominant 9.276
HP:0001347HP:0001347Hyperreflexia0KIF1A CL E G H547888ORPHA:2836PEHO syndromeHP:0040281 - Very frequent276
HP:0001347HP:0001347Hyperreflexia0KIF1A CL E G H547888OMIM:610357Spastic paraplegia 30, autosomal recessive.276
HP:0001347HP:0001347Hyperreflexia0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040283 - Occasional38
HP:0001347HP:0001347Hyperreflexia0KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive.38
HP:0001347HP:0001347Hyperreflexia0KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 1093
HP:0001347HP:0001347Hyperreflexia0KIF5A CL E G H37986323OMIM:604187Spastic paraplegia 10, autosomal dominant.93
HP:0001347HP:0001347Hyperreflexia0KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional3
HP:0001347HP:0001347Hyperreflexia0KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy1
HP:0001347HP:0001347Hyperreflexia0KLC2 CL E G H6483720716ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndrome1
HP:0001347HP:0001347Hyperreflexia0KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional42
HP:0001347HP:0001347Hyperreflexia0KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0001347HP:0001347Hyperreflexia0KNL1 CL E G H5708224054ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent112
HP:0001347HP:0001347Hyperreflexia0KPNA3 CL E G H38396396ORPHA:171612Autosomal dominant spastic paraplegia type 37HP:0040282 - Frequent
HP:0001347HP:0001347Hyperreflexia0KRAS CL E G H38456407ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent196
HP:0001347HP:0001347Hyperreflexia0KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome3
HP:0001347HP:0001347Hyperreflexia0L1CAM CL E G H38976470ORPHA:2466MASA syndromeHP:0040281 - Very frequent134
HP:0001347HP:0001347Hyperreflexia0LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6136
HP:0001347HP:0001347Hyperreflexia0LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0001347HP:0001347Hyperreflexia0LETM1 CL E G H39546556OMIM:6200892
HP:0001347HP:0001347Hyperreflexia0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001347HP:0001347Hyperreflexia0LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent21
HP:0001347HP:0001347Hyperreflexia0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040282 - Frequent44
HP:0001347HP:0001347Hyperreflexia0LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant.44
HP:0001347HP:0001347Hyperreflexia0LRAT CL E G H92276685ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional62
HP:0001347HP:0001347Hyperreflexia0LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional221
HP:0001347HP:0001347Hyperreflexia0LYRM4 CL E G H5712821365OMIM:615595Combined oxidative phosphorylation deficiency 194
HP:0001347HP:0001347Hyperreflexia0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 810
HP:0001347HP:0001347Hyperreflexia0MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome
HP:0001347HP:0001347Hyperreflexia0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0001347HP:0001347Hyperreflexia0MAG CL E G H40996783OMIM:616680Spastic paraplegia 75, autosomal recessive4
HP:0001347HP:0001347Hyperreflexia0MAK CL E G H41176816ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional53
HP:0001347HP:0001347Hyperreflexia0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis.136
HP:0001347HP:0001347Hyperreflexia0MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional140
HP:0001347HP:0001347Hyperreflexia0MARS2 CL E G H9293525133ORPHA:314603Autosomal recessive spastic ataxia with leukoencephalopathyHP:0040281 - Very frequent25
HP:0001347HP:0001347Hyperreflexia0MARS2 CL E G H9293525133OMIM:611390Spastic ataxia 3, autosomal recessive.25
HP:0001347HP:0001347Hyperreflexia0MAT1A CL E G H41436903OMIM:250850METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY.82
HP:0001347HP:0001347Hyperreflexia0MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 21.80
HP:0001347HP:0001347Hyperreflexia0MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathyHP:0040282 - Frequent80
HP:0001347HP:0001347Hyperreflexia0MBOAT7 CL E G H7914315505OMIM:617188Mental retardation, autosomal recessive 57HP:0040283 - Occasional5
HP:0001347HP:0001347Hyperreflexia0MCCC1 CL E G H569226936OMIM:2102003-Methylcrotonyl-CoA carboxylase 1 deficiency.81
HP:0001347HP:0001347Hyperreflexia0MCCC2 CL E G H640876937OMIM:2102103-Methylcrotonyl-CoA carboxylase 2 deficiency.77
HP:0001347HP:0001347Hyperreflexia0MCM7 CL E G H41766950ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent
HP:0001347HP:0001347Hyperreflexia0MCOLN1 CL E G H5719213356OMIM:252650Mucolipidosis IV.78
HP:0001347HP:0001347Hyperreflexia0MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IVHP:0040281 - Very frequent78
HP:0001347HP:0001347Hyperreflexia0MCPH1 CL E G H796486954ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent155
HP:0001347HP:0001347Hyperreflexia0MECP2 CL E G H42046990OMIM:300673Encephalopathy, neonatal severe, due to mecp2 mutations.950
HP:0001347HP:0001347Hyperreflexia0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13.950
HP:0001347HP:0001347Hyperreflexia0MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndrome950
HP:0001347HP:0001347Hyperreflexia0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities.6
HP:0001347HP:0001347Hyperreflexia0MED17 CL E G H94402375OMIM:613668Microcephaly, postnatal progressive, with seizures and brain atrophy.23
HP:0001347HP:0001347Hyperreflexia0MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040283 - Occasional281
HP:0001347HP:0001347Hyperreflexia0MERTK CL E G H104617027ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional75
HP:0001347HP:0001347Hyperreflexia0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001347HP:0001347Hyperreflexia0METTL5 CL E G H2908125006ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent
HP:0001347HP:0001347Hyperreflexia0MFF CL E G H5694724858OMIM:617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2.17
HP:0001347HP:0001347Hyperreflexia0MFF CL E G H5694724858ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040282 - Frequent17
HP:0001347HP:0001347Hyperreflexia0MFN2 CL E G H992716877OMIM:609260Charcot-marie-tooth disease, axonal, type 2A2AHP:0040283 - Occasional203
HP:0001347HP:0001347Hyperreflexia0MFSD2A CL E G H8487925897ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent5
HP:0001347HP:0001347Hyperreflexia0MFSD2A CL E G H8487925897OMIM:616486Microcephaly 15, primary, autosomal recessive.5
HP:0001347HP:0001347Hyperreflexia0MICOS13 CL E G H12598833702OMIM:618329COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001347HP:0001347Hyperreflexia0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0001347HP:0001347Hyperreflexia0MINPP1 CL E G H95627102ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040283 - Occasional3
HP:0001347HP:0001347Hyperreflexia0MKS1 CL E G H549037121OMIM:617121JOUBERT SYNDROME 28; JBTS28127
HP:0001347HP:0001347Hyperreflexia0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001347HP:0001347Hyperreflexia0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0001347HP:0001347Hyperreflexia0MORC2 CL E G H2288023573OMIM:619090DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN8
HP:0001347HP:0001347Hyperreflexia0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0001347HP:0001347Hyperreflexia0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorder532
HP:0001347HP:0001347Hyperreflexia0MRPS25 CL E G H6443214511OMIM:619025COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0001347HP:0001347Hyperreflexia0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 32.1
HP:0001347HP:0001347Hyperreflexia0MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0001347HP:0001347Hyperreflexia0MSTN CL E G H26604223OMIM:614160MUSCLE HYPERTROPHY; MSLHP34
HP:0001347HP:0001347Hyperreflexia0MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent29
HP:0001347HP:0001347Hyperreflexia0MTPAP CL E G H5514925532ORPHA:254343Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndromeHP:0040281 - Very frequent19
HP:0001347HP:0001347Hyperreflexia0MTPAP CL E G H5514925532OMIM:613672Spastic ataxia 4, autosomal recessive.19
HP:0001347HP:0001347Hyperreflexia0MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55HP:0040282 - Frequent
HP:0001347HP:0001347Hyperreflexia0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7
HP:0001347HP:0001347Hyperreflexia0MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive.
HP:0001347HP:0001347Hyperreflexia0MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0001347HP:0001347Hyperreflexia0MYORG CL E G H5746219918OMIM:618317Basal ganglia calcification, idiopathic, 7, autosomal recessive.
HP:0001347HP:0001347Hyperreflexia0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0001347HP:0001347Hyperreflexia0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0001347HP:0001347Hyperreflexia0NAGA CL E G H46687631OMIM:609241Schindler disease, type I.47
HP:0001347HP:0001347Hyperreflexia0NALCN CL E G H25923219082OMIM:615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1.48
HP:0001347HP:0001347Hyperreflexia0NARS1 CL E G H46777643OMIM:619091NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0001347HP:0001347Hyperreflexia0NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0001347HP:0001347Hyperreflexia0NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 24.34
HP:0001347HP:0001347Hyperreflexia0NCAPD3 CL E G H2331028952ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent1
HP:0001347HP:0001347Hyperreflexia0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0001347HP:0001347Hyperreflexia0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001347HP:0001347Hyperreflexia0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001347HP:0001347Hyperreflexia0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001347HP:0001347Hyperreflexia0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001347HP:0001347Hyperreflexia0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001347HP:0001347Hyperreflexia0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001347HP:0001347Hyperreflexia0NDE1 CL E G H5482017619OMIM:614019Lissencephaly 496
HP:0001347HP:0001347Hyperreflexia0NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY.96
HP:0001347HP:0001347Hyperreflexia0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040283 - Occasional39
HP:0001347HP:0001347Hyperreflexia0NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent91
HP:0001347HP:0001347Hyperreflexia0NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent7
HP:0001347HP:0001347Hyperreflexia0NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent3
HP:0001347HP:0001347Hyperreflexia0NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent19
HP:0001347HP:0001347Hyperreflexia0NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent4
HP:0001347HP:0001347Hyperreflexia0NDUFA4 CL E G H46977687OMIM:619065MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN214
HP:0001347HP:0001347Hyperreflexia0NDUFA9 CL E G H47047693ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0001347HP:0001347Hyperreflexia0NDUFAF2 CL E G H9194228086ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent26
HP:0001347HP:0001347Hyperreflexia0NDUFAF3 CL E G H2591529918OMIM:618240Mitochondrial complex I deficiency, nuclear type 18.31
HP:0001347HP:0001347Hyperreflexia0NDUFAF4 CL E G H2907821034OMIM:618237Mitochondrial complex I deficiency, nuclear type 15.50
HP:0001347HP:0001347Hyperreflexia0NDUFAF5 CL E G H7913315899ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent34
HP:0001347HP:0001347Hyperreflexia0NDUFAF6 CL E G H13768228625ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent39
HP:0001347HP:0001347Hyperreflexia0NDUFS1 CL E G H47197707ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent81
HP:0001347HP:0001347Hyperreflexia0NDUFS1 CL E G H47197707OMIM:618226Mitochondrial complex I deficiency, nuclear type 5.81
HP:0001347HP:0001347Hyperreflexia0NDUFS2 CL E G H47207708ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent65
HP:0001347HP:0001347Hyperreflexia0NDUFS2 CL E G H47207708OMIM:618228Mitochondrial complex I deficiency, nuclear type 6.65
HP:0001347HP:0001347Hyperreflexia0NDUFS3 CL E G H47227710ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent22
HP:0001347HP:0001347Hyperreflexia0NDUFS4 CL E G H47247711ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0001347HP:0001347Hyperreflexia0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 1.27
HP:0001347HP:0001347Hyperreflexia0NDUFS7 CL E G H3742917714ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent38
HP:0001347HP:0001347Hyperreflexia0NDUFS7 CL E G H3742917714OMIM:618224Mitochondrial complex I deficiency, nuclear type 3.38
HP:0001347HP:0001347Hyperreflexia0NDUFS8 CL E G H47287715ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent42
HP:0001347HP:0001347Hyperreflexia0NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 2.42
HP:0001347HP:0001347Hyperreflexia0NDUFV1 CL E G H47237716ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent74
HP:0001347HP:0001347Hyperreflexia0NDUFV2 CL E G H47297717ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0001347HP:0001347Hyperreflexia0NEFH CL E G H47447737OMIM:105400Amyotrophic lateral sclerosis 1.24
HP:0001347HP:0001347Hyperreflexia0NEK1 CL E G H47507744OMIM:617892Amyotrophic lateral sclerosis, susceptibility to, 24.101
HP:0001347HP:0001347Hyperreflexia0NEK2 CL E G H47517745ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional5
HP:0001347HP:0001347Hyperreflexia0NEU1 CL E G H47587758OMIM:256550Neuraminidase deficiency.43
HP:0001347HP:0001347Hyperreflexia0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction.
HP:0001347HP:0001347Hyperreflexia0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0001347HP:0001347Hyperreflexia0NIPA1 CL E G H12360617043ORPHA:100988Autosomal dominant spastic paraplegia type 6117
HP:0001347HP:0001347Hyperreflexia0NIPA1 CL E G H12360617043OMIM:600363Spastic paraplegia 6, autosomal dominant.117
HP:0001347HP:0001347Hyperreflexia0NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent2
HP:0001347HP:0001347Hyperreflexia0NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy.2
HP:0001347HP:0001347Hyperreflexia0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0001347HP:0001347Hyperreflexia0NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 369
HP:0001347HP:0001347Hyperreflexia0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040283 - Occasional9
HP:0001347HP:0001347Hyperreflexia0NOTCH2NLC CL E G H10099671753924ORPHA:2289Neuronal intranuclear inclusion diseaseHP:0040282 - Frequent
HP:0001347HP:0001347Hyperreflexia0NR2E3 CL E G H100027974ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional58
HP:0001347HP:0001347Hyperreflexia0NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystonia27
HP:0001347HP:0001347Hyperreflexia0NRAS CL E G H48937989ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent102
HP:0001347HP:0001347Hyperreflexia0NRCAM CL E G H48977994OMIM:6198332
HP:0001347HP:0001347Hyperreflexia0NRL CL E G H49018002ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional30
HP:0001347HP:0001347Hyperreflexia0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1.544
HP:0001347HP:0001347Hyperreflexia0NSRP1 CL E G H8408125305OMIM:620001
HP:0001347HP:0001347Hyperreflexia0NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 5.84
HP:0001347HP:0001347Hyperreflexia0NT5C2 CL E G H229788022ORPHA:320396Autosomal recessive spastic paraplegia type 45HP:0040282 - Frequent15
HP:0001347HP:0001347Hyperreflexia0NT5C2 CL E G H229788022OMIM:613162Spastic paraplegia 45, autosomal recessive.15
HP:0001347HP:0001347Hyperreflexia0NTRK2 CL E G H49158032OMIM:617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE588
HP:0001347HP:0001347Hyperreflexia0NUBPL CL E G H8022420278OMIM:618242Mitochondrial complex I deficiency, nuclear type 21.89
HP:0001347HP:0001347Hyperreflexia0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent7
HP:0001347HP:0001347Hyperreflexia0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion121
HP:0001347HP:0001347Hyperreflexia0OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyria23
HP:0001347HP:0001347Hyperreflexia0OCLN CL E G H1005066588104ORPHA:1229Congenital intrauterine infection-like syndromeHP:0040281 - Very frequent23
HP:0001347HP:0001347Hyperreflexia0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of Lowe88
HP:0001347HP:0001347Hyperreflexia0OFD1 CL E G H84812567ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional201
HP:0001347HP:0001347Hyperreflexia0OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2201
HP:0001347HP:0001347Hyperreflexia0OPA1 CL E G H49768140OMIM:210000Behr syndrome.214
HP:0001347HP:0001347Hyperreflexia0OPA3 CL E G H802078142OMIM:2585013-methylglutaconic aciduria, type III.163
HP:0001347HP:0001347Hyperreflexia0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 5.73
HP:0001347HP:0001347Hyperreflexia0PAH CL E G H50538582ORPHA:79254Classic phenylketonuriaHP:0040283 - Occasional641
HP:0001347HP:0001347Hyperreflexia0PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0001347HP:0001347Hyperreflexia0PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0001347HP:0001347Hyperreflexia0PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040282 - Frequent55
HP:0001347HP:0001347Hyperreflexia0PANK2 CL E G H8002515894ORPHA:216866Classic pantothenate kinase-associated neurodegenerationHP:0040282 - Frequent55
HP:0001347HP:0001347Hyperreflexia0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 155
HP:0001347HP:0001347Hyperreflexia0PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0001347HP:0001347Hyperreflexia0PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional23
HP:0001347HP:0001347Hyperreflexia0PARS2 CL E G H2597330563OMIM:618437Epileptic encephalopathy, early infantile, 75.14
HP:0001347HP:0001347Hyperreflexia0PAX1 CL E G H50758615ORPHA:2792Otofaciocervical syndromeHP:0040281 - Very frequent3
HP:0001347HP:0001347Hyperreflexia0PC CL E G H50918636OMIM:266150Pyruvate carboxylase deficiency118
HP:0001347HP:0001347Hyperreflexia0PCARE CL E G H38893934383ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional
HP:0001347HP:0001347Hyperreflexia0PCDH12 CL E G H512948657OMIM:251280Microcephaly, seizures, spasticity, and brain calcifications.
HP:0001347HP:0001347Hyperreflexia0PCLO CL E G H2744513406OMIM:608027Pontocerebellar hypoplasia, type 3.6
HP:0001347HP:0001347Hyperreflexia0PCYT2 CL E G H58338756OMIM:618770SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0001347HP:0001347Hyperreflexia0PDE6A CL E G H51458785ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional116
HP:0001347HP:0001347Hyperreflexia0PDE6B CL E G H51588786ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional126
HP:0001347HP:0001347Hyperreflexia0PDE6G CL E G H51488789ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional18
HP:0001347HP:0001347Hyperreflexia0PDE8B CL E G H86228794OMIM:609161Striatal degeneration, autosomal dominant75
HP:0001347HP:0001347Hyperreflexia0PDGFB CL E G H51558800OMIM:213600Basal ganglia calcification, idiopathic, 1.9
HP:0001347HP:0001347Hyperreflexia0PDGFRB CL E G H51598804OMIM:213600Basal ganglia calcification, idiopathic, 1.28
HP:0001347HP:0001347Hyperreflexia0PDHA1 CL E G H51608806ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent88
HP:0001347HP:0001347Hyperreflexia0PDYN CL E G H51738820OMIM:610245Spinocerebellar ataxia 23.52
HP:0001347HP:0001347Hyperreflexia0PDYN CL E G H51738820ORPHA:101108Spinocerebellar ataxia type 23HP:0040281 - Very frequent52
HP:0001347HP:0001347Hyperreflexia0PET100 CL E G H10013180140038ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent6
HP:0001347HP:0001347Hyperreflexia0PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0001347HP:0001347Hyperreflexia0PEX1 CL E G H51898850ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent169
HP:0001347HP:0001347Hyperreflexia0PEX10 CL E G H51928851ORPHA:247815Autosomal recessive ataxia due to PEX10 deficiencyHP:0040283 - Occasional75
HP:0001347HP:0001347Hyperreflexia0PEX10 CL E G H51928851ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent75
HP:0001347HP:0001347Hyperreflexia0PEX11B CL E G H87998853ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent4
HP:0001347HP:0001347Hyperreflexia0PEX12 CL E G H51938854ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent65
HP:0001347HP:0001347Hyperreflexia0PEX13 CL E G H51948855ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent66
HP:0001347HP:0001347Hyperreflexia0PEX14 CL E G H51958856ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent46
HP:0001347HP:0001347Hyperreflexia0PEX16 CL E G H94098857ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent59
HP:0001347HP:0001347Hyperreflexia0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0001347HP:0001347Hyperreflexia0PEX19 CL E G H58249713ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent62
HP:0001347HP:0001347Hyperreflexia0PEX19 CL E G H58249713OMIM:614886Peroxisome biogenesis disorder 12A (Zellweger)62
HP:0001347HP:0001347Hyperreflexia0PEX2 CL E G H58289717ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent82
HP:0001347HP:0001347Hyperreflexia0PEX26 CL E G H5567022965ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent106
HP:0001347HP:0001347Hyperreflexia0PEX3 CL E G H85048858ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent47
HP:0001347HP:0001347Hyperreflexia0PEX3 CL E G H85048858OMIM:617370Peroxisome biogenesis disorder 10B.47
HP:0001347HP:0001347Hyperreflexia0PEX5 CL E G H58309719ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent99
HP:0001347HP:0001347Hyperreflexia0PEX6 CL E G H51908859ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent98
HP:0001347HP:0001347Hyperreflexia0PGAP1 CL E G H8005525712ORPHA:401820Autosomal recessive spastic paraplegia type 67HP:0040282 - Frequent20
HP:0001347HP:0001347Hyperreflexia0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0001347HP:0001347Hyperreflexia0PGM3 CL E G H52388907ORPHA:443811PGM3-CDG15
HP:0001347HP:0001347Hyperreflexia0PHC1 CL E G H19113182ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent16
HP:0001347HP:0001347Hyperreflexia0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040282 - Frequent11
HP:0001347HP:0001347Hyperreflexia0PI4KA CL E G H52978983OMIM:619621SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG8411
HP:0001347HP:0001347Hyperreflexia0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 2.46
HP:0001347HP:0001347Hyperreflexia0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0001347HP:0001347Hyperreflexia0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0001347HP:0001347Hyperreflexia0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1HP:0040282 - Frequent37
HP:0001347HP:0001347Hyperreflexia0PIGP CL E G H512273046OMIM:617599Epileptic encephalopathy, early infantile, 55.2
HP:0001347HP:0001347Hyperreflexia0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 312
HP:0001347HP:0001347Hyperreflexia0PINK1 CL E G H6501814581OMIM:605909Parkinson disease 6, autosomal recessive early-onset.55
HP:0001347HP:0001347Hyperreflexia0PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional55
HP:0001347HP:0001347Hyperreflexia0PITRM1 CL E G H1053117663OMIM:619405SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR301
HP:0001347HP:0001347Hyperreflexia0PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001347HP:0001347Hyperreflexia0PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonismHP:0040282 - Frequent133
HP:0001347HP:0001347Hyperreflexia0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040282 - Frequent133
HP:0001347HP:0001347Hyperreflexia0PLA2G6 CL E G H83989039OMIM:256600Neurodegeneration with brain iron accumulation 2A.133
HP:0001347HP:0001347Hyperreflexia0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive.133
HP:0001347HP:0001347Hyperreflexia0PLCB1 CL E G H2323615917OMIM:613722Epileptic encephalopathy, early infantile, 12.119
HP:0001347HP:0001347Hyperreflexia0PLP1 CL E G H53549086ORPHA:280229Pelizaeus-Merzbacher disease in female carriersHP:0040283 - Occasional60
HP:0001347HP:0001347Hyperreflexia0PLP1 CL E G H53549086OMIM:312920Spastic paraplegia 2, X-linked.60
HP:0001347HP:0001347Hyperreflexia0PLP1 CL E G H53549086ORPHA:99015Spastic paraplegia type 2HP:0040281 - Very frequent60
HP:0001347HP:0001347Hyperreflexia0PLXNA1 CL E G H53619099OMIM:619955
HP:0001347HP:0001347Hyperreflexia0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia150
HP:0001347HP:0001347Hyperreflexia0PMP22 CL E G H53769118ORPHA:101081Charcot-Marie-Tooth disease type 1A79
HP:0001347HP:0001347Hyperreflexia0PMPCA CL E G H2320318667ORPHA:1170Autosomal recessive cerebelloparenchymal disorder type 37
HP:0001347HP:0001347Hyperreflexia0PMPCA CL E G H2320318667OMIM:213200Spinocerebellar ataxia, autosomal recessive 2.7
HP:0001347HP:0001347Hyperreflexia0PNPLA6 CL E G H1090816268ORPHA:139480Autosomal recessive spastic paraplegia type 39HP:0040282 - Frequent103
HP:0001347HP:0001347Hyperreflexia0PNPLA6 CL E G H1090816268OMIM:612020Spastic paraplegia 39, autosomal recessive.103
HP:0001347HP:0001347Hyperreflexia0PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional6
HP:0001347HP:0001347Hyperreflexia0POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.138
HP:0001347HP:0001347Hyperreflexia0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040282 - Frequent138
HP:0001347HP:0001347Hyperreflexia0POLR3B CL E G H5570330348OMIM:619742CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I67
HP:0001347HP:0001347Hyperreflexia0POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.67
HP:0001347HP:0001347Hyperreflexia0POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism.67
HP:0001347HP:0001347Hyperreflexia0POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional180
HP:0001347HP:0001347Hyperreflexia0POMGNT1 CL E G H5562419139ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional180
HP:0001347HP:0001347Hyperreflexia0POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional18
HP:0001347HP:0001347Hyperreflexia0POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional213
HP:0001347HP:0001347Hyperreflexia0POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional221
HP:0001347HP:0001347Hyperreflexia0POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndromeHP:0040282 - Frequent40
HP:0001347HP:0001347Hyperreflexia0POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability
HP:0001347HP:0001347Hyperreflexia0PPIL1 CL E G H516459260OMIM:619301PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0001347HP:0001347Hyperreflexia0PPOX CL E G H54989280ORPHA:79473Porphyria variegataHP:0040283 - Occasional41
HP:0001347HP:0001347Hyperreflexia0PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 22
HP:0001347HP:0001347Hyperreflexia0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome2
HP:0001347HP:0001347Hyperreflexia0PPP2R2B CL E G H55219305OMIM:604326Spinocerebellar ataxia 12.5
HP:0001347HP:0001347Hyperreflexia0PPP2R2B CL E G H55219305ORPHA:98762Spinocerebellar ataxia type 12HP:0040282 - Frequent5
HP:0001347HP:0001347Hyperreflexia0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome.28
HP:0001347HP:0001347Hyperreflexia0PRCD CL E G H76820632528