Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Hyperreflexia (HP:0001347)help
Parent Node:
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Involuntary movements (HP:0004305)help
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Clonus (HP:0002169)help
Term ID: 2169
Name: Clonus
Synonym: Involuntary rhythmic muscular contractions and relaxations
Definition: A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.
Comments:
Reference: HP:0002169
Genes and Diseases:
 
       Child Nodes:
........expandAnkle clonus (HP:0011448) help
........expandKnee clonus (HP:0011449) help
........expandElbow clonus (HP:0011728) help

 Sister Nodes: 
..expandAthetosis (HP:0002305) help
..expandChorea (HP:0002072) help
..expandFasciculations (HP:0002380) help
..expandHemiballismus (HP:0100248) help
..expandIntermittent painful muscle spasms (HP:0011964) help
..expandMotor stereotypy (HP:0000733) help
..expandMyoclonus (HP:0001336) help
..expandParoxysmal dyskinesia (HP:0007166) help
..expandSelf-mutilation of tongue and lips due to involuntary movements (HP:0008767) help
..expandTics (HP:0100033) help
..expandTremor (HP:0001337) 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:0002169HP:0002169Clonus0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0002169HP:0002169Clonus0ABCB7 CL E G H2248OMIM:301310Anemia, sideroblastic, and spinocerebellar ataxia.35
HP:0002169HP:0002169Clonus0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophy135
HP:0002169HP:0002169Clonus0ADGRG1 CL E G H92894512OMIM:606854Polymicrogyria, bilateral frontoparietal88
HP:0002169HP:0002169Clonus0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0002169HP:0002169Clonus0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0002169HP:0002169Clonus0AMPD2 CL E G H271469OMIM:615809Pontocerebellar hypoplasia, type 9.21
HP:0002169HP:0002169Clonus0AMPD2 CL E G H271469OMIM:615686Spastic paraplegia 63, autosomal recessive21
HP:0002169HP:0002169Clonus0ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxia64
HP:0002169HP:0002169Clonus0ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 371
HP:0002169HP:0002169Clonus0ATP6AP2 CL E G H1015918305ORPHA:363654X-linked parkinsonism-spasticity syndrome36
HP:0002169HP:0002169Clonus0BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatal.20
HP:0002169HP:0002169Clonus0CAPN1 CL E G H8231476ORPHA:488594Autosomal recessive spastic paraplegia type 764
HP:0002169HP:0002169Clonus0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0002169HP:0002169Clonus0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 7.11
HP:0002169HP:0002169Clonus0CCT5 CL E G H229481618ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegiaHP:0040282 - Frequent56
HP:0002169HP:0002169Clonus0CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive.56
HP:0002169HP:0002169Clonus0CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM33
HP:0002169HP:0002169Clonus0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0002169HP:0002169Clonus0CYP7B1 CL E G H94202652ORPHA:100986Autosomal recessive spastic paraplegia type 5A57
HP:0002169HP:0002169Clonus0DTYMK CL E G H18413061OMIM:619847
HP:0002169HP:0002169Clonus0EMILIN1 CL E G H1111719880OMIM:6200802
HP:0002169HP:0002169Clonus0ERLIN1 CL E G H1061316947ORPHA:401785Autosomal recessive spastic paraplegia type 62HP:0040283 - Occasional2
HP:0002169HP:0002169Clonus0ERLIN1 CL E G H1061316947OMIM:615681Spastic paraplegia 62, autosomal recessive.2
HP:0002169HP:0002169Clonus0ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 1818
HP:0002169HP:0002169Clonus0ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome18
HP:0002169HP:0002169Clonus0FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 3576
HP:0002169HP:0002169Clonus0FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessive76
HP:0002169HP:0002169Clonus0FGF13 CL E G H22583670OMIM:301058DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE901
HP:0002169HP:0002169Clonus0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional157
HP:0002169HP:0002169Clonus0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0002169HP:0002169Clonus0GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0002169HP:0002169Clonus0GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive30
HP:0002169HP:0002169Clonus0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 3943
HP:0002169HP:0002169Clonus0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional34
HP:0002169HP:0002169Clonus0HIKESHI CL E G H5150126938OMIM:616881Leukodystrophy, hypomyelinating, 13.3
HP:0002169HP:0002169Clonus0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII39
HP:0002169HP:0002169Clonus0HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040283 - Occasional12
HP:0002169HP:0002169Clonus0HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome12
HP:0002169HP:0002169Clonus0KCNQ2 CL E G H37856296ORPHA:1949Benign familial neonatal epilepsyHP:0040282 - Frequent528
HP:0002169HP:0002169Clonus0KCNQ3 CL E G H37866297ORPHA:1949Benign familial neonatal epilepsyHP:0040282 - Frequent302
HP:0002169HP:0002169Clonus0KCNT1 CL E G H5758218865OMIM:614959Epileptic encephalopathy, early infantile, 14.321
HP:0002169HP:0002169Clonus0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040283 - Occasional3
HP:0002169HP:0002169Clonus0KIF1A CL E G H547888OMIM:610357Spastic paraplegia 30, autosomal recessive276
HP:0002169HP:0002169Clonus0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040282 - Frequent38
HP:0002169HP:0002169Clonus0KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 1093
HP:0002169HP:0002169Clonus0KIF5A CL E G H37986323OMIM:604187Spastic paraplegia 10, autosomal dominant93
HP:0002169HP:0002169Clonus0KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy1
HP:0002169HP:0002169Clonus0KPNA3 CL E G H38396396ORPHA:171612Autosomal dominant spastic paraplegia type 37HP:0040283 - Occasional
HP:0002169HP:0002169Clonus0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0002169HP:0002169Clonus0MED17 CL E G H94402375OMIM:613668Microcephaly, postnatal progressive, with seizures and brain atrophy.23
HP:0002169HP:0002169Clonus0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0002169HP:0002169Clonus0MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive.
HP:0002169HP:0002169Clonus0MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0002169HP:0002169Clonus0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040283 - Occasional39
HP:0002169HP:0002169Clonus0NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 242
HP:0002169HP:0002169Clonus0NIPA1 CL E G H12360617043OMIM:600363Spastic paraplegia 6, autosomal dominant.117
HP:0002169HP:0002169Clonus0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040282 - Frequent88
HP:0002169HP:0002169Clonus0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 5.73
HP:0002169HP:0002169Clonus0PC CL E G H50918636OMIM:266150Pyruvate carboxylase deficiency.118
HP:0002169HP:0002169Clonus0PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0002169HP:0002169Clonus0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0002169HP:0002169Clonus0PI4KA CL E G H52978983OMIM:619621SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG8411
HP:0002169HP:0002169Clonus0PIGP CL E G H512273046OMIM:617599Epileptic encephalopathy, early infantile, 55.2
HP:0002169HP:0002169Clonus0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 312
HP:0002169HP:0002169Clonus0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0002169HP:0002169Clonus0POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional180
HP:0002169HP:0002169Clonus0POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional18
HP:0002169HP:0002169Clonus0POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional213
HP:0002169HP:0002169Clonus0POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional221
HP:0002169HP:0002169Clonus0POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndrome40
HP:0002169HP:0002169Clonus0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeHP:0040283 - Occasional49
HP:0002169HP:0002169Clonus0PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies.8
HP:0002169HP:0002169Clonus0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0002169HP:0002169Clonus0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0002169HP:0002169Clonus0PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiencyHP:0040283 - Occasional19
HP:0002169HP:0002169Clonus0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0002169HP:0002169Clonus0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0002169HP:0002169Clonus0REEP1 CL E G H6505525786OMIM:610250Spastic paraplegia 31, autosomal dominant87
HP:0002169HP:0002169Clonus0RTN2 CL E G H625310468ORPHA:100993Autosomal dominant spastic paraplegia type 12HP:0040282 - Frequent25
HP:0002169HP:0002169Clonus0RTN2 CL E G H625310468OMIM:604805Spastic paraplegia 12, autosomal dominant25
HP:0002169HP:0002169Clonus0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61
HP:0002169HP:0002169Clonus0SAMD9L CL E G H2192851349OMIM:159550Ataxia-Pancytopenia syndrome4
HP:0002169HP:0002169Clonus0SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0002169HP:0002169Clonus0SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0002169HP:0002169Clonus0SEPSECS CL E G H5109130605OMIM:613811Pontocerebellar hypoplasia, type 2D.66
HP:0002169HP:0002169Clonus0SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenileHP:0040283 - Occasional162
HP:0002169HP:0002169Clonus0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional6
HP:0002169HP:0002169Clonus0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndrome57
HP:0002169HP:0002169Clonus0SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome.57
HP:0002169HP:0002169Clonus0SLC1A4 CL E G H650910942OMIM:616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly4
HP:0002169HP:0002169Clonus0SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040283 - Occasional4
HP:0002169HP:0002169Clonus0SLC25A15 CL E G H1016610985ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeHP:0040282 - Frequent88
HP:0002169HP:0002169Clonus0SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.88
HP:0002169HP:0002169Clonus0SLC25A21 CL E G H8987414411OMIM:618811MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0002169HP:0002169Clonus0SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040283 - Occasional1
HP:0002169HP:0002169Clonus0SLC33A1 CL E G H919795ORPHA:171863Autosomal dominant spastic paraplegia type 42HP:0040282 - Frequent48
HP:0002169HP:0002169Clonus0SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndrome5
HP:0002169HP:0002169Clonus0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0002169HP:0002169Clonus0SLC44A1 CL E G H2344618798OMIM:618868NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC1
HP:0002169HP:0002169Clonus0SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 151
HP:0002169HP:0002169Clonus0SLC6A9 CL E G H653611056OMIM:617301Glycine encephalopathy with normal serum glycine4
HP:0002169HP:0002169Clonus0SMG9 CL E G H5600625763OMIM:6199952
HP:0002169HP:0002169Clonus0SOD1 CL E G H664711179OMIM:618598SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP53
HP:0002169HP:0002169Clonus0SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 2066
HP:0002169HP:0002169Clonus0SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive66
HP:0002169HP:0002169Clonus0SPAST CL E G H668311233ORPHA:100985Autosomal dominant spastic paraplegia type 4208
HP:0002169HP:0002169Clonus0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional287
HP:0002169HP:0002169Clonus0SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive287
HP:0002169HP:0002169Clonus0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002169HP:0002169Clonus0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional54
HP:0002169HP:0002169Clonus0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiency14
HP:0002169HP:0002169Clonus0STUB1 CL E G H1027311427OMIM:615768Spinocerebellar ataxia, autosomal recessive 1614
HP:0002169HP:0002169Clonus0SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce type1129
HP:0002169HP:0002169Clonus0TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration.12
HP:0002169HP:0002169Clonus0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040283 - Occasional12
HP:0002169HP:0002169Clonus0TIMM50 CL E G H9260923656ORPHA:5052163-methylglutaconic aciduria type 9HP:0040281 - Very frequent1
HP:0002169HP:0002169Clonus0TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IXHP:0040284 - Very rare1
HP:0002169HP:0002169Clonus0TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndrome15
HP:0002169HP:0002169Clonus0TRAK1 CL E G H2290629947OMIM:618201Epileptic encephalopathy, early infantile, 68.
HP:0002169HP:0002169Clonus0TSEN2 CL E G H8074628422OMIM:612389Pontocerebellar hypoplasia, type 2B.84
HP:0002169HP:0002169Clonus0UBAP1 CL E G H5127112461ORPHA:100993Autosomal dominant spastic paraplegia type 12HP:0040282 - Frequent
HP:0002169HP:0002169Clonus0UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive21
HP:0002169HP:0002169Clonus0UFC1 CL E G H5150626941OMIM:618076Neurodevelopmental disorder with spasticity and poor growth.
HP:0002169HP:0002169Clonus0USP8 CL E G H910112631ORPHA:401795Autosomal recessive spastic paraplegia type 59HP:0040282 - Frequent7
HP:0002169HP:0002169Clonus0VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0002169HP:0002169Clonus0VPS37A CL E G H13749224928ORPHA:319199Autosomal recessive spastic paraplegia type 53HP:0040281 - Very frequent7
HP:0002169HP:0002169Clonus0VPS37A CL E G H13749224928OMIM:614898SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG537
HP:0002169HP:0002169Clonus0WASHC5 CL E G H989728984ORPHA:100989Autosomal dominant spastic paraplegia type 8HP:0040283 - Occasional83
HP:0002169HP:0002169Clonus0ZFYVE26 CL E G H2350320761OMIM:270700Spastic paraplegia 15, autosomal recessive.189
HP:0002169HP:0002169Clonus0ZFYVE27 CL E G H11881326559OMIM:610244Spastic paraplegia 33, autosomal dominant52
HP:0002169HP:0011728Elbow clonus1 CL E G H
HP:0002169HP:0011448Ankle clonus1AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0002169HP:0011448Ankle clonus1ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040283 - Occasional135
HP:0002169HP:0011448Ankle clonus1ADGRG1 CL E G H92894512OMIM:606854Polymicrogyria, bilateral frontoparietal88
HP:0002169HP:0011448Ankle clonus1ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxiaHP:0040282 - Frequent64
HP:0002169HP:0011448Ankle clonus1ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 3HP:0040282 - Frequent71
HP:0002169HP:0011448Ankle clonus1ATP6AP2 CL E G H1015918305ORPHA:363654X-linked parkinsonism-spasticity syndromeHP:0040283 - Occasional36
HP:0002169HP:0011448Ankle clonus1CAPN1 CL E G H8231476ORPHA:488594Autosomal recessive spastic paraplegia type 76HP:0040283 - Occasional4
HP:0002169HP:0011448Ankle clonus1CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0002169HP:0011448Ankle clonus1CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM33
HP:0002169HP:0011448Ankle clonus1CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0002169HP:0011448Ankle clonus1CYP7B1 CL E G H94202652ORPHA:100986Autosomal recessive spastic paraplegia type 5AHP:0040282 - Frequent57
HP:0002169HP:0011448Ankle clonus1ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 18HP:0040283 - Occasional18
HP:0002169HP:0011448Ankle clonus1ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndromeHP:0040283 - Occasional18
HP:0002169HP:0011448Ankle clonus1FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 35HP:0040282 - Frequent76
HP:0002169HP:0011448Ankle clonus1FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessiveHP:0040283 - Occasional76
HP:0002169HP:0011448Ankle clonus1FGF13 CL E G H22583670OMIM:301058DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE901
HP:0002169HP:0011448Ankle clonus1GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional160
HP:0002169HP:0011448Ankle clonus1GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive.30
HP:0002169HP:0011449Knee clonus1GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive.30
HP:0002169HP:0011448Ankle clonus1GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040283 - Occasional43
HP:0002169HP:0011448Ankle clonus1HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome.12
HP:0002169HP:0011448Ankle clonus1KIF1A CL E G H547888OMIM:610357Spastic paraplegia 30, autosomal recessive.276
HP:0002169HP:0011448Ankle clonus1KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 10HP:0040284 - Very rare93
HP:0002169HP:0011449Knee clonus1KIF5A CL E G H37986323OMIM:604187Spastic paraplegia 10, autosomal dominant.93
HP:0002169HP:0011448Ankle clonus1KIF5A CL E G H37986323OMIM:604187Spastic paraplegia 10, autosomal dominant.93
HP:0002169HP:0011448Ankle clonus1KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy1
HP:0002169HP:0011449Knee clonus1MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive
HP:0002169HP:0011448Ankle clonus1NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 242
HP:0002169HP:0011448Ankle clonus1PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0002169HP:0011448Ankle clonus1PI4KA CL E G H52978983OMIM:619621SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG8411
HP:0002169HP:0011448Ankle clonus1PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 3.12
HP:0002169HP:0011448Ankle clonus1PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0002169HP:0011448Ankle clonus1POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndromeHP:0040282 - Frequent40
HP:0002169HP:0011448Ankle clonus1PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional81
HP:0002169HP:0011448Ankle clonus1RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 3.85
HP:0002169HP:0011448Ankle clonus1REEP1 CL E G H6505525786OMIM:610250Spastic paraplegia 31, autosomal dominant.87
HP:0002169HP:0011448Ankle clonus1RTN2 CL E G H625310468OMIM:604805Spastic paraplegia 12, autosomal dominant.25
HP:0002169HP:0011449Knee clonus1RTN2 CL E G H625310468OMIM:604805Spastic paraplegia 12, autosomal dominant.25
HP:0002169HP:0011448Ankle clonus1SAMD9L CL E G H2192851349OMIM:159550Ataxia-Pancytopenia syndrome.4
HP:0002169HP:0011448Ankle clonus1SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunctionHP:0040280 - Obligate
HP:0002169HP:0011448Ankle clonus1SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0002169HP:0011448Ankle clonus1SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040283 - Occasional57
HP:0002169HP:0011448Ankle clonus1SLC1A4 CL E G H650910942OMIM:616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly4
HP:0002169HP:0011448Ankle clonus1SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndromeHP:0040282 - Frequent5
HP:0002169HP:0011448Ankle clonus1SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 2.5
HP:0002169HP:0011449Knee clonus1SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 1.51
HP:0002169HP:0011448Ankle clonus1SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 1.51
HP:0002169HP:0011448Ankle clonus1SMG9 CL E G H5600625763OMIM:6199952
HP:0002169HP:0011448Ankle clonus1SOD1 CL E G H664711179OMIM:618598SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP53
HP:0002169HP:0011448Ankle clonus1SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 20HP:0040283 - Occasional66
HP:0002169HP:0011448Ankle clonus1SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0002169HP:0011449Knee clonus1SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0002169HP:0011448Ankle clonus1SPAST CL E G H668311233ORPHA:100985Autosomal dominant spastic paraplegia type 4HP:0040282 - Frequent208
HP:0002169HP:0011449Knee clonus1SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive.287
HP:0002169HP:0011448Ankle clonus1SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive.287
HP:0002169HP:0011448Ankle clonus1STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040283 - Occasional14
HP:0002169HP:0011448Ankle clonus1STUB1 CL E G H1027311427OMIM:615768Spinocerebellar ataxia, autosomal recessive 16HP:0040283 - Occasional14
HP:0002169HP:0011448Ankle clonus1SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce typeHP:0040283 - Occasional1129
HP:0002169HP:0011448Ankle clonus1TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndromeHP:0040282 - Frequent15
HP:0002169HP:0011448Ankle clonus1UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive.21
HP:0002169HP:0011448Ankle clonus1VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0002169HP:0011448Ankle clonus1ZFYVE27 CL E G H11881326559OMIM:610244Spastic paraplegia 33, autosomal dominant.52


Genes (110) :AARS1 ABCB7 ABCD1 ADGRG1 ALS2 AMPD2 ANO10 ATL1 ATP6AP2 BRAT1 CAPN1 CARS1 CAV1 CCT5 CD40LG CYP27A1 CYP7B1 DTYMK EMILIN1 ERLIN1 ERLIN2 FA2H FGF13 FKRP FUS GALC GBA2 GFM2 GMPPB HIKESHI HTRA2 HTT KCNQ2 KCNQ3 KCNT1 KDM1A KIF1A KIF1C KIF5A KLC2 KPNA3 LMNB1 MED17 MICU1 MTRFR MYL2 NDP NDUFS8 NIPA1 OCRL OSTM1 PC PET100 PEX16 PI4KA PIGP PIGT PLA2G6 POMGNT1 POMK POMT1 POMT2 POU3F4 PRPS1 PRUNE1 PSAP PTS RAB18 RAB3GAP2 REEP1 RTN2 RUSC2 SAMD9L SELENOI SEPSECS SETX SIGMAR1 SLC16A2 SLC1A4 SLC25A15 SLC25A21 SLC2A3 SLC33A1 SLC39A14 SLC44A1 SLC52A3 SLC6A9 SMG9 SOD1 SPART SPAST SPG11 SPTBN1 SPTLC1 STUB1 SYNE1 TANGO2 TIMM50 TIMM8A TRAK1 TSEN2 UBAP1 UCHL1 UFC1 USP8 VCP VPS37A WASHC5 ZFYVE26 ZFYVE27

Diseases (118) :OMIM:619691 OMIM:301310 ORPHA:139396 OMIM:606854 OMIM:205100 ORPHA:300605 OMIM:615809 OMIM:615686 ORPHA:284289 ORPHA:100984 ORPHA:363654 OMIM:614498 ORPHA:488594 OMIM:618891 OMIM:606721 ORPHA:139578 OMIM:256840 OMIM:308230 OMIM:213700 ORPHA:100986 OMIM:619847 OMIM:620080 ORPHA:401785 OMIM:615681 ORPHA:209951 ORPHA:280384 ORPHA:171629 OMIM:612319 OMIM:301058 ORPHA:370959 ORPHA:206436 OMIM:614409 ORPHA:565624 OMIM:616881 OMIM:617248 ORPHA:399 OMIM:617435 ORPHA:1949 OMIM:614959 ORPHA:477993 OMIM:610357 ORPHA:397946 ORPHA:100991 OMIM:604187 OMIM:609541 ORPHA:171612 ORPHA:99027 OMIM:613668 OMIM:615673 OMIM:615035 OMIM:619424 ORPHA:649 OMIM:618222 OMIM:600363 ORPHA:534 OMIM:259720 OMIM:266150 OMIM:619055 OMIM:614877 OMIM:619621 OMIM:617599 OMIM:615398 OMIM:612953 ORPHA:1435 ORPHA:423479 OMIM:617481 ORPHA:544469 ORPHA:13 OMIM:614222 OMIM:212720 OMIM:610250 ORPHA:100993 OMIM:604805 OMIM:617773 OMIM:159550 ORPHA:506353 OMIM:618768 OMIM:613811 OMIM:602433 ORPHA:59 OMIM:300523 OMIM:616657 ORPHA:447997 ORPHA:415 OMIM:238970 OMIM:618811 ORPHA:171863 ORPHA:521406 OMIM:617013 OMIM:618868 OMIM:211530 OMIM:617301 OMIM:619995 OMIM:618598 ORPHA:101000 OMIM:275900 ORPHA:100985 OMIM:604360 OMIM:619475 ORPHA:412057 OMIM:615768 ORPHA:88644 OMIM:616878 ORPHA:480864 ORPHA:505216 OMIM:617698 ORPHA:52368 OMIM:618201 OMIM:612389 OMIM:615491 OMIM:618076 ORPHA:401795 OMIM:613954 ORPHA:319199 OMIM:614898 ORPHA:100989 OMIM:270700 OMIM:610244
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.