Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002169 | HP:0002169 | Clonus | 0 | AARS1 CL E G H | 16 | 20 | OMIM:619691 | TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8 | | | | | | |
HP:0002169 | HP:0002169 | Clonus | 0 | ABCB7 CL E G H | 22 | 48 | OMIM:301310 | Anemia, sideroblastic, and spinocerebellar ataxia | . | | | 35 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | | | | 135 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | ADGRG1 CL E G H | 9289 | 4512 | OMIM:606854 | Polymicrogyria, bilateral frontoparietal | | | | 88 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | | | | 114 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 114 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | AMPD2 CL E G H | 271 | 469 | OMIM:615809 | Pontocerebellar hypoplasia, type 9 | . | | | 21 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | AMPD2 CL E G H | 271 | 469 | OMIM:615686 | Spastic paraplegia 63, autosomal recessive | | | | 21 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | ANO10 CL E G H | 55129 | 25519 | ORPHA:284289 | Adult-onset autosomal recessive cerebellar ataxia | | | | 64 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | ATL1 CL E G H | 51062 | 11231 | ORPHA:100984 | Autosomal dominant spastic paraplegia type 3 | | | | 71 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:363654 | X-linked parkinsonism-spasticity syndrome | | | | 36 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | BRAT1 CL E G H | 221927 | 21701 | OMIM:614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | . | | | 20 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | CAPN1 CL E G H | 823 | 1476 | ORPHA:488594 | Autosomal recessive spastic paraplegia type 76 | | | | 4 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | CARS1 CL E G H | 833 | 1493 | OMIM:618891 | MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH | | | | | | |
HP:0002169 | HP:0002169 | Clonus | 0 | CAV1 CL E G H | 857 | 1527 | OMIM:606721 | Lipodystrophy, familial partial, type 7 | . | | | 11 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | CCT5 CL E G H | 22948 | 1618 | ORPHA:139578 | Mutilating hereditary sensory neuropathy with spastic paraplegia | HP:0040282 - Frequent | | | 56 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | CCT5 CL E G H | 22948 | 1618 | OMIM:256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | . | | | 56 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | CYP27A1 CL E G H | 1593 | 2605 | OMIM:213700 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:100986 | Autosomal recessive spastic paraplegia type 5A | | | | 57 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | DTYMK CL E G H | 1841 | 3061 | OMIM:619847 | | | | | | | |
HP:0002169 | HP:0002169 | Clonus | 0 | EMILIN1 CL E G H | 11117 | 19880 | OMIM:620080 | | | | | 2 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | ERLIN1 CL E G H | 10613 | 16947 | ORPHA:401785 | Autosomal recessive spastic paraplegia type 62 | HP:0040283 - Occasional | | | 2 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | ERLIN1 CL E G H | 10613 | 16947 | OMIM:615681 | Spastic paraplegia 62, autosomal recessive | . | | | 2 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:209951 | Autosomal recessive spastic paraplegia type 18 | | | | 18 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:280384 | Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome | | | | 18 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | | | | 76 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | FA2H CL E G H | 79152 | 21197 | OMIM:612319 | Spastic paraplegia 35, autosomal recessive | | | | 76 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | FGF13 CL E G H | 2258 | 3670 | OMIM:301058 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90 | | | | 1 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 157 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 105 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | | | | 160 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | | | | 30 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | | | | 43 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 34 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | HIKESHI CL E G H | 51501 | 26938 | OMIM:616881 | Leukodystrophy, hypomyelinating, 13 | . | | | 3 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | HTRA2 CL E G H | 27429 | 14348 | OMIM:617248 | 3-methylglutaconic aciduria, type VIII | | | | 39 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | HP:0040283 - Occasional | | | 12 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | HTT CL E G H | 3064 | 4851 | OMIM:617435 | Lopes-Maciel-Rodan syndrome | | | | 12 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:1949 | Benign familial neonatal epilepsy | HP:0040282 - Frequent | | | 528 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | KCNQ3 CL E G H | 3786 | 6297 | ORPHA:1949 | Benign familial neonatal epilepsy | HP:0040282 - Frequent | | | 302 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | KCNT1 CL E G H | 57582 | 18865 | OMIM:614959 | Epileptic encephalopathy, early infantile, 14 | . | | | 321 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | KDM1A CL E G H | 23028 | 29079 | ORPHA:477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | KIF1A CL E G H | 547 | 888 | OMIM:610357 | Spastic paraplegia 30, autosomal recessive | | | | 276 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | KIF1C CL E G H | 10749 | 6317 | ORPHA:397946 | Autosomal spastic paraplegia type 58 | HP:0040282 - Frequent | | | 38 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | KIF5A CL E G H | 3798 | 6323 | ORPHA:100991 | Autosomal dominant spastic paraplegia type 10 | | | | 93 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | KIF5A CL E G H | 3798 | 6323 | OMIM:604187 | Spastic paraplegia 10, autosomal dominant | | | | 93 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | KLC2 CL E G H | 64837 | 20716 | OMIM:609541 | Spastic paraplegia, optic atrophy, and neuropathy | | | | 1 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | KPNA3 CL E G H | 3839 | 6396 | ORPHA:171612 | Autosomal dominant spastic paraplegia type 37 | HP:0040283 - Occasional | | | | | |
HP:0002169 | HP:0002169 | Clonus | 0 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | HP:0040283 - Occasional | | | 44 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | MED17 CL E G H | 9440 | 2375 | OMIM:613668 | Microcephaly, postnatal progressive, with seizures and brain atrophy | . | | | 23 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | MTRFR CL E G H | 91574 | 26784 | OMIM:615035 | Spastic paraplegia 55, autosomal recessive | . | | | | | |
HP:0002169 | HP:0002169 | Clonus | 0 | MYL2 CL E G H | 4633 | 7583 | OMIM:619424 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 | | | | 131 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | HP:0040283 - Occasional | | | 39 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | NDUFS8 CL E G H | 4728 | 7715 | OMIM:618222 | Mitochondrial complex I deficiency, nuclear type 2 | | | | 42 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | NIPA1 CL E G H | 123606 | 17043 | OMIM:600363 | Spastic paraplegia 6, autosomal dominant | . | | | 117 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040282 - Frequent | | | 88 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | . | | | 73 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | PC CL E G H | 5091 | 8636 | OMIM:266150 | Pyruvate carboxylase deficiency | . | | | 118 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | PET100 CL E G H | 100131801 | 40038 | OMIM:619055 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12 | | | | 6 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | PEX16 CL E G H | 9409 | 8857 | OMIM:614877 | Peroxisome biogenesis disorder 8B | | | | 59 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:619621 | SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84 | | | | 11 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | PIGP CL E G H | 51227 | 3046 | OMIM:617599 | Epileptic encephalopathy, early infantile, 55 | . | | | 2 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | | | | 12 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 180 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 18 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 213 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 221 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | | | | 40 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | HP:0040283 - Occasional | | | 49 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | PRUNE1 CL E G H | 58497 | 13420 | OMIM:617481 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | . | | | 8 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | PRUNE1 CL E G H | 58497 | 13420 | ORPHA:544469 | PRUNE1-related neurological syndrome | | | | 8 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | | | | 81 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | PTS CL E G H | 5805 | 9689 | ORPHA:13 | 6-pyruvoyl-tetrahydropterin synthase deficiency | HP:0040283 - Occasional | | | 19 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | | | | 85 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | REEP1 CL E G H | 65055 | 25786 | OMIM:610250 | Spastic paraplegia 31, autosomal dominant | | | | 87 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | RTN2 CL E G H | 6253 | 10468 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | HP:0040282 - Frequent | | | 25 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | RTN2 CL E G H | 6253 | 10468 | OMIM:604805 | Spastic paraplegia 12, autosomal dominant | | | | 25 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | RUSC2 CL E G H | 9853 | 23625 | OMIM:617773 | Mental retardation, autosomal recessive 61 | | | | | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SAMD9L CL E G H | 219285 | 1349 | OMIM:159550 | Ataxia-Pancytopenia syndrome | | | | 4 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SELENOI CL E G H | 85465 | 29361 | ORPHA:506353 | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction | | | | | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SELENOI CL E G H | 85465 | 29361 | OMIM:618768 | SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81 | | | | | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SEPSECS CL E G H | 51091 | 30605 | OMIM:613811 | Pontocerebellar hypoplasia, type 2D | . | | | 66 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SETX CL E G H | 23064 | 445 | OMIM:602433 | Amyotrophic lateral sclerosis 4, juvenile | HP:0040283 - Occasional | | | 162 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SIGMAR1 CL E G H | 10280 | 8157 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 6 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SLC16A2 CL E G H | 6567 | 10923 | ORPHA:59 | Allan-Herndon-Dudley syndrome | | | | 57 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SLC16A2 CL E G H | 6567 | 10923 | OMIM:300523 | Allan-Herndon-Dudley syndrome | . | | | 57 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SLC1A4 CL E G H | 6509 | 10942 | OMIM:616657 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | | | | 4 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SLC1A4 CL E G H | 6509 | 10942 | ORPHA:447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SLC25A15 CL E G H | 10166 | 10985 | OMIM:238970 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome | . | | | 88 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SLC25A21 CL E G H | 89874 | 14411 | OMIM:618811 | MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18 | | | | | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | HP:0040283 - Occasional | | | 1 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SLC33A1 CL E G H | 9197 | 95 | ORPHA:171863 | Autosomal dominant spastic paraplegia type 42 | HP:0040282 - Frequent | | | 48 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SLC39A14 CL E G H | 23516 | 20858 | ORPHA:521406 | Dystonia-parkinsonism-hypermanganesemia syndrome | | | | 5 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | | | | 5 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SLC44A1 CL E G H | 23446 | 18798 | OMIM:618868 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC | | | | 1 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211530 | Brown-Vialetto-Van laere syndrome 1 | | | | 51 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SLC6A9 CL E G H | 6536 | 11056 | OMIM:617301 | Glycine encephalopathy with normal serum glycine | | | | 4 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:619995 | | | | | 2 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SOD1 CL E G H | 6647 | 11179 | OMIM:618598 | SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP | | | | 53 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SPART CL E G H | 23111 | 18514 | ORPHA:101000 | Autosomal recessive spastic paraplegia type 20 | | | | 66 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SPART CL E G H | 23111 | 18514 | OMIM:275900 | Spastic paraplegia 20, autosomal recessive | | | | 66 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SPAST CL E G H | 6683 | 11233 | ORPHA:100985 | Autosomal dominant spastic paraplegia type 4 | | | | 208 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 287 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | | | | 287 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 54 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | | | | 14 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | STUB1 CL E G H | 10273 | 11427 | OMIM:615768 | Spinocerebellar ataxia, autosomal recessive 16 | | | | 14 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | | | | 1129 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | . | | | 12 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | TIMM50 CL E G H | 92609 | 23656 | ORPHA:505216 | 3-methylglutaconic aciduria type 9 | HP:0040281 - Very frequent | | | 1 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | TIMM50 CL E G H | 92609 | 23656 | OMIM:617698 | 3-methylglutaconic aciduria, type IX | HP:0040284 - Very rare | | | 1 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | TIMM8A CL E G H | 1678 | 11817 | ORPHA:52368 | Mohr-Tranebjaerg syndrome | | | | 15 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | TRAK1 CL E G H | 22906 | 29947 | OMIM:618201 | Epileptic encephalopathy, early infantile, 68 | . | | | | | |
HP:0002169 | HP:0002169 | Clonus | 0 | TSEN2 CL E G H | 80746 | 28422 | OMIM:612389 | Pontocerebellar hypoplasia, type 2B | . | | | 84 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | UBAP1 CL E G H | 51271 | 12461 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | HP:0040282 - Frequent | | | | | |
HP:0002169 | HP:0002169 | Clonus | 0 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | | | | 21 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | UFC1 CL E G H | 51506 | 26941 | OMIM:618076 | Neurodevelopmental disorder with spasticity and poor growth | . | | | | | |
HP:0002169 | HP:0002169 | Clonus | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:401795 | Autosomal recessive spastic paraplegia type 59 | HP:0040282 - Frequent | | | 7 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | VCP CL E G H | 7415 | 12666 | OMIM:613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | | | | 63 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | VPS37A CL E G H | 137492 | 24928 | ORPHA:319199 | Autosomal recessive spastic paraplegia type 53 | HP:0040281 - Very frequent | | | 7 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | VPS37A CL E G H | 137492 | 24928 | OMIM:614898 | SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53 | | | | 7 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:100989 | Autosomal dominant spastic paraplegia type 8 | HP:0040283 - Occasional | | | 83 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | ZFYVE26 CL E G H | 23503 | 20761 | OMIM:270700 | Spastic paraplegia 15, autosomal recessive | . | | | 189 | | |
HP:0002169 | HP:0002169 | Clonus | 0 | ZFYVE27 CL E G H | 118813 | 26559 | OMIM:610244 | Spastic paraplegia 33, autosomal dominant | | | | 52 | | |
HP:0002169 | HP:0011728 | Elbow clonus | 1 | CL E G H | | | | | | | | | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | AARS1 CL E G H | 16 | 20 | OMIM:619691 | TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8 | | | | | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | HP:0040283 - Occasional | | | 135 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | ADGRG1 CL E G H | 9289 | 4512 | OMIM:606854 | Polymicrogyria, bilateral frontoparietal | | | | 88 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | ANO10 CL E G H | 55129 | 25519 | ORPHA:284289 | Adult-onset autosomal recessive cerebellar ataxia | HP:0040282 - Frequent | | | 64 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | ATL1 CL E G H | 51062 | 11231 | ORPHA:100984 | Autosomal dominant spastic paraplegia type 3 | HP:0040282 - Frequent | | | 71 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:363654 | X-linked parkinsonism-spasticity syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | CAPN1 CL E G H | 823 | 1476 | ORPHA:488594 | Autosomal recessive spastic paraplegia type 76 | HP:0040283 - Occasional | | | 4 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | CARS1 CL E G H | 833 | 1493 | OMIM:618891 | MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH | | | | | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | CYP27A1 CL E G H | 1593 | 2605 | OMIM:213700 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:100986 | Autosomal recessive spastic paraplegia type 5A | HP:0040282 - Frequent | | | 57 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:209951 | Autosomal recessive spastic paraplegia type 18 | HP:0040283 - Occasional | | | 18 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:280384 | Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | HP:0040282 - Frequent | | | 76 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | FA2H CL E G H | 79152 | 21197 | OMIM:612319 | Spastic paraplegia 35, autosomal recessive | HP:0040283 - Occasional | | | 76 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | FGF13 CL E G H | 2258 | 3670 | OMIM:301058 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90 | | | | 1 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | HP:0040283 - Occasional | | | 160 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | . | | | 30 | | |
HP:0002169 | HP:0011449 | Knee clonus | 1 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | . | | | 30 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | HP:0040283 - Occasional | | | 43 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | HTT CL E G H | 3064 | 4851 | OMIM:617435 | Lopes-Maciel-Rodan syndrome | . | | | 12 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | KIF1A CL E G H | 547 | 888 | OMIM:610357 | Spastic paraplegia 30, autosomal recessive | . | | | 276 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | KIF5A CL E G H | 3798 | 6323 | ORPHA:100991 | Autosomal dominant spastic paraplegia type 10 | HP:0040284 - Very rare | | | 93 | | |
HP:0002169 | HP:0011449 | Knee clonus | 1 | KIF5A CL E G H | 3798 | 6323 | OMIM:604187 | Spastic paraplegia 10, autosomal dominant | . | | | 93 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | KIF5A CL E G H | 3798 | 6323 | OMIM:604187 | Spastic paraplegia 10, autosomal dominant | . | | | 93 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | KLC2 CL E G H | 64837 | 20716 | OMIM:609541 | Spastic paraplegia, optic atrophy, and neuropathy | | | | 1 | | |
HP:0002169 | HP:0011449 | Knee clonus | 1 | MTRFR CL E G H | 91574 | 26784 | OMIM:615035 | Spastic paraplegia 55, autosomal recessive | | | | | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | NDUFS8 CL E G H | 4728 | 7715 | OMIM:618222 | Mitochondrial complex I deficiency, nuclear type 2 | | | | 42 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | PEX16 CL E G H | 9409 | 8857 | OMIM:614877 | Peroxisome biogenesis disorder 8B | | | | 59 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | PI4KA CL E G H | 5297 | 8983 | OMIM:619621 | SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84 | | | | 11 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | . | | | 12 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | HP:0040283 - Occasional | | | 81 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | . | | | 85 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | REEP1 CL E G H | 65055 | 25786 | OMIM:610250 | Spastic paraplegia 31, autosomal dominant | . | | | 87 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | RTN2 CL E G H | 6253 | 10468 | OMIM:604805 | Spastic paraplegia 12, autosomal dominant | . | | | 25 | | |
HP:0002169 | HP:0011449 | Knee clonus | 1 | RTN2 CL E G H | 6253 | 10468 | OMIM:604805 | Spastic paraplegia 12, autosomal dominant | . | | | 25 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | SAMD9L CL E G H | 219285 | 1349 | OMIM:159550 | Ataxia-Pancytopenia syndrome | . | | | 4 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | SELENOI CL E G H | 85465 | 29361 | ORPHA:506353 | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction | HP:0040280 - Obligate | | | | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | SELENOI CL E G H | 85465 | 29361 | OMIM:618768 | SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81 | | | | | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | SLC16A2 CL E G H | 6567 | 10923 | ORPHA:59 | Allan-Herndon-Dudley syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | SLC1A4 CL E G H | 6509 | 10942 | OMIM:616657 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | | | | 4 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | SLC39A14 CL E G H | 23516 | 20858 | ORPHA:521406 | Dystonia-parkinsonism-hypermanganesemia syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | . | | | 5 | | |
HP:0002169 | HP:0011449 | Knee clonus | 1 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211530 | Brown-Vialetto-Van laere syndrome 1 | . | | | 51 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211530 | Brown-Vialetto-Van laere syndrome 1 | . | | | 51 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | SMG9 CL E G H | 56006 | 25763 | OMIM:619995 | | | | | 2 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | SOD1 CL E G H | 6647 | 11179 | OMIM:618598 | SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP | | | | 53 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | SPART CL E G H | 23111 | 18514 | ORPHA:101000 | Autosomal recessive spastic paraplegia type 20 | HP:0040283 - Occasional | | | 66 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | SPART CL E G H | 23111 | 18514 | OMIM:275900 | Spastic paraplegia 20, autosomal recessive | . | | | 66 | | |
HP:0002169 | HP:0011449 | Knee clonus | 1 | SPART CL E G H | 23111 | 18514 | OMIM:275900 | Spastic paraplegia 20, autosomal recessive | . | | | 66 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | SPAST CL E G H | 6683 | 11233 | ORPHA:100985 | Autosomal dominant spastic paraplegia type 4 | HP:0040282 - Frequent | | | 208 | | |
HP:0002169 | HP:0011449 | Knee clonus | 1 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | . | | | 287 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | . | | | 287 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040283 - Occasional | | | 14 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | STUB1 CL E G H | 10273 | 11427 | OMIM:615768 | Spinocerebellar ataxia, autosomal recessive 16 | HP:0040283 - Occasional | | | 14 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | HP:0040283 - Occasional | | | 1129 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | TIMM8A CL E G H | 1678 | 11817 | ORPHA:52368 | Mohr-Tranebjaerg syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | . | | | 21 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | VCP CL E G H | 7415 | 12666 | OMIM:613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | | | | 63 | | |
HP:0002169 | HP:0011448 | Ankle clonus | 1 | ZFYVE27 CL E G H | 118813 | 26559 | OMIM:610244 | Spastic paraplegia 33, autosomal dominant | . | | | 52 | | |