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:0002273 | HP:0002273 | Tetraparesis | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | | | | 15 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | | | | 135 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | ADAR CL E G H | 103 | 225 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040282 - Frequent | | | 116 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | . | | | 1 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | | | | 60 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | | | | 37 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | | | | 114 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:247604 | Juvenile primary lateral sclerosis | | | | 114 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:606353 | Primary lateral sclerosis, juvenile | | | | 114 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | APOE CL E G H | 348 | 613 | OMIM:607822 | Alzheimer disease 3 | | | | 39 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | ARFGEF2 CL E G H | 10564 | 15853 | OMIM:608097 | Periventricular heterotopia with microcephaly, autosomal recessive | . | | | 179 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | ARX CL E G H | 170302 | 18060 | OMIM:308350 | Developmental and epileptic encephalopathy 1 | | | | 166 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 239 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 150 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040282 - Frequent | | | | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:618012 | Epileptic encephalopathy, infantile or early childhood, 3 | | | | 3 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | AUH CL E G H | 549 | 890 | ORPHA:67046 | 3-methylglutaconic aciduria type 1 | | | | 49 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:615924 | Encephalopathy, progressive, with or without lipodystrophy | . | | | 105 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:363400 | Severe neurodegenerative syndrome with lipodystrophy | HP:0040283 - Occasional | | | 105 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | C9ORF72 CL E G H | 203228 | 28337 | OMIM:105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | . | | | 56 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 56 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 449 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | CARS2 CL E G H | 79587 | 25695 | ORPHA:477774 | Combined oxidative phosphorylation defect type 27 | HP:0040282 - Frequent | | | 35 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | CARS2 CL E G H | 79587 | 25695 | OMIM:616672 | Combined oxidative phosphorylation deficiency 27 | . | | | 35 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 11 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | COA8 CL E G H | 84334 | 20492 | OMIM:619061 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17 | | | | | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | | | | | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | . | | | 193 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | EARS2 CL E G H | 124454 | 29419 | OMIM:614924 | Combined oxidative phosphorylation deficiency 12 | | | | 80 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | | | | 8 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:247604 | Juvenile primary lateral sclerosis | | | | 18 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | EXOSC8 CL E G H | 11340 | 17035 | OMIM:616081 | Pontocerebellar hypoplasia, type 1C | | | | 4 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | | | | 76 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | FA2H CL E G H | 79152 | 21197 | OMIM:612319 | Spastic paraplegia 35, autosomal recessive | | | | 76 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | FAR1 CL E G H | 84188 | 26222 | ORPHA:438178 | Fatty acyl-CoA reductase 1 deficiency | | | | 7 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | FAR1 CL E G H | 84188 | 26222 | OMIM:616154 | PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD | | | | 7 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | FBLN1 CL E G H | 2192 | 3600 | ORPHA:404451 | FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome | | | | 12 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 105 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | GAD1 CL E G H | 2571 | 4092 | OMIM:619124 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89 | | | | 44 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206448 | Adult Krabbe disease | HP:0040284 - Very rare | | | 160 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | GBE1 CL E G H | 2632 | 4180 | OMIM:263570 | Polyglucosan body neuropathy, adult form | . | | | 86 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | . | | | 68 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | GM2A CL E G H | 2760 | 4367 | OMIM:272750 | Gm2-Gangliosidosis, ab variant | | | | 69 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | GSS CL E G H | 2937 | 4624 | OMIM:266130 | Glutathione synthetase deficiency | | | | 39 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | GUF1 CL E G H | 60558 | 25799 | OMIM:617065 | Epileptic encephalopathy, early infantile, 40 | | | | 2 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | HP:0040283 - Occasional | | | 12 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | | | | 19 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | | | | 28 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | KCNJ6 CL E G H | 3763 | 6267 | ORPHA:435628 | Keppen-Lubinsky syndrome | | | | 3 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | KCNJ6 CL E G H | 3763 | 6267 | OMIM:614098 | Keppen-Lubinsky syndrome | | | | 3 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | KCNQ2 CL E G H | 3785 | 6296 | OMIM:613720 | Epileptic encephalopathy, early infantile, 7 | | | | 528 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | L2HGDH CL E G H | 79944 | 20499 | OMIM:236792 | L-2-Hydroxyglutaric aciduria | | | | 34 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | L2HGDH CL E G H | 79944 | 20499 | ORPHA:79314 | L-2-hydroxyglutaric aciduria | | | | 34 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | LIMS2 CL E G H | 55679 | 16084 | OMIM:616827 | Muscular dystrophy, limb-girdle, type 2W | | | | 10 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | LIPT1 CL E G H | 51601 | 29569 | OMIM:616299 | Lipoyltransferase 1 deficiency | | | | 21 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | LIPT2 CL E G H | 387787 | 37216 | OMIM:617668 | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | | | | 2 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | HP:0040283 - Occasional | | | 44 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | LMNB1 CL E G H | 4001 | 6637 | OMIM:619179 | MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26 | | | | 44 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | | | | 165 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | LRP4 CL E G H | 4038 | 6696 | OMIM:614305 | Sclerosteosis 2 | . | | | 124 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | | | | 10 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | MFSD2A CL E G H | 84879 | 25897 | OMIM:616486 | Microcephaly 15, primary, autosomal recessive | | | | 5 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | MOCS1 CL E G H | 4337 | 7190 | OMIM:252150 | Molybdenum cofactor deficiency, complementation group A | | | | 96 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | MRM2 CL E G H | 29960 | 16352 | OMIM:618567 | MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17 | | | | | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | NAXE CL E G H | 128240 | 18453 | OMIM:617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | . | | | 9 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | NDUFS3 CL E G H | 4722 | 7710 | OMIM:618230 | Mitochondrial complex I deficiency, nuclear type 8 | . | | | 22 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:617892 | Amyotrophic lateral sclerosis, susceptibility to, 24 | . | | | 101 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | NEXMIF CL E G H | 340533 | 29433 | ORPHA:85277 | X-linked intellectual disability, Cantagrel type | HP:0040281 - Very frequent | | | 52 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | NFU1 CL E G H | 27247 | 16287 | OMIM:605711 | Multiple mitochondrial dysfunctions syndrome 1 | | | | 34 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | NUP62 CL E G H | 23636 | 8066 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040282 - Frequent | | | 7 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | OMIM:607432 | Lissencephaly 1 | | | | 231 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | PDHX CL E G H | 8050 | 21350 | ORPHA:255182 | Pyruvate dehydrogenase E3-binding protein deficiency | HP:0040282 - Frequent | | | 98 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | PHACTR1 CL E G H | 221692 | 20990 | OMIM:618298 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70 | | | | 1 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | | | | 133 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280219 | Pelizaeus-Merzbacher disease, classic form | | | | 60 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280224 | Pelizaeus-Merzbacher disease, transitional form | | | | 60 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | . | | | 52 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | POLR3K CL E G H | 51728 | 14121 | OMIM:619310 | LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21 | | | | | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | PPOX CL E G H | 5498 | 9280 | ORPHA:79473 | Porphyria variegata | HP:0040282 - Frequent | | | 41 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | PRDM8 CL E G H | 56978 | 13993 | ORPHA:324290 | Early-onset Lafora body disease | | | | 1 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | | | | 49 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | PRUNE1 CL E G H | 58497 | 13420 | OMIM:617481 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | | | | 8 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | PRUNE1 CL E G H | 58497 | 13420 | ORPHA:544469 | PRUNE1-related neurological syndrome | | | | 8 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:249900 | Metachromatic leukodystrophy due to saposin B deficiency | | | | 81 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | | | | 27 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:607822 | Alzheimer disease 3 | | | | 241 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | REEP1 CL E G H | 65055 | 25786 | ORPHA:101011 | Autosomal dominant spastic paraplegia type 31 | | | | 87 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | SARDH CL E G H | 1757 | 10536 | ORPHA:3129 | Sarcosinemia | HP:0040283 - Occasional | | | 4 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 304 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 16 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 237 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 129 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | SLC18A2 CL E G H | 6571 | 10935 | ORPHA:352649 | Brain dopamine-serotonin vesicular transport disease | | | | 2 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | SLC19A3 CL E G H | 80704 | 16266 | ORPHA:263410 | Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome | HP:0040282 - Frequent | | | 110 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | SLC19A3 CL E G H | 80704 | 16266 | OMIM:607483 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | | | | 110 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | SLC1A2 CL E G H | 6506 | 10940 | OMIM:617105 | Epileptic encephalopathy, early infantile, 41 | | | | 3 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 63 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | SLC25A10 CL E G H | 1468 | 10980 | OMIM:618972 | MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19 | | | | | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | | | | 27 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | SOD1 CL E G H | 6647 | 11179 | OMIM:618598 | SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP | | | | 53 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | SOX4 CL E G H | 6659 | 11200 | OMIM:618506 | Coffin-Siris syndrome 10 | | | | | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 62 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | STAMBP CL E G H | 10617 | 16950 | OMIM:614261 | Microcephaly-Capillary malformation syndrome | | | | 24 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | STXBP1 CL E G H | 6812 | 11444 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | | | | 237 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | TACO1 CL E G H | 51204 | 24316 | OMIM:619052 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8 | | | | 23 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | TARDBP CL E G H | 23435 | 11571 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 65 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:496756 | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | | | | 52 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 20 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | TMEM222 CL E G H | 84065 | 25363 | OMIM:619470 | NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA | | | | | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:602080 | Paget disease of bone 2, early-onset | . | | | 72 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | TNR CL E G H | 7143 | 11953 | OMIM:619653 | NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO | | | | 7 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | TRAPPC4 CL E G H | 51399 | 19943 | OMIM:618741 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA | | | | 1 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | . | | | 21 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | VCP CL E G H | 7415 | 12666 | OMIM:613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | | | | 63 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 63 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | VCP CL E G H | 7415 | 12666 | OMIM:167320 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | | | | 63 | | |
HP:0002273 | HP:0002273 | Tetraparesis | 0 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | | | | 224 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | HP:0040283 - Occasional | | | 15 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | HP:0040283 - Occasional | | | 135 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | ADAR CL E G H | 103 | 225 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040282 - Frequent | | | 116 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | HP:0040283 - Occasional | | | 37 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | . | | | 114 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | ALS2 CL E G H | 57679 | 443 | ORPHA:247604 | Juvenile primary lateral sclerosis | HP:0040281 - Very frequent | | | 114 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | ALS2 CL E G H | 57679 | 443 | OMIM:606353 | Primary lateral sclerosis, juvenile | . | | | 114 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | APOE CL E G H | 348 | 613 | OMIM:607822 | Alzheimer disease 3 | . | | | 39 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | ARX CL E G H | 170302 | 18060 | OMIM:308350 | Developmental and epileptic encephalopathy 1 | | | | 166 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040282 - Frequent | | | | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | ATP6V1A CL E G H | 523 | 851 | OMIM:618012 | Epileptic encephalopathy, infantile or early childhood, 3 | . | | | 3 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | AUH CL E G H | 549 | 890 | ORPHA:67046 | 3-methylglutaconic aciduria type 1 | HP:0040283 - Occasional | | | 49 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | COA8 CL E G H | 84334 | 20492 | OMIM:619061 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17 | | | | | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | HP:0040283 - Occasional | | | | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040283 - Occasional | | | 65 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | EARS2 CL E G H | 124454 | 29419 | OMIM:614924 | Combined oxidative phosphorylation deficiency 12 | . | | | 80 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | . | | | 8 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:247604 | Juvenile primary lateral sclerosis | HP:0040281 - Very frequent | | | 18 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | EXOSC8 CL E G H | 11340 | 17035 | OMIM:616081 | Pontocerebellar hypoplasia, type 1C | . | | | 4 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | HP:0040282 - Frequent | | | 76 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | FA2H CL E G H | 79152 | 21197 | OMIM:612319 | Spastic paraplegia 35, autosomal recessive | . | | | 76 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | FAR1 CL E G H | 84188 | 26222 | ORPHA:438178 | Fatty acyl-CoA reductase 1 deficiency | HP:0040282 - Frequent | | | 7 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | FAR1 CL E G H | 84188 | 26222 | OMIM:616154 | PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD | | | | 7 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | FBLN1 CL E G H | 2192 | 3600 | ORPHA:404451 | FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | GM2A CL E G H | 2760 | 4367 | OMIM:272750 | Gm2-Gangliosidosis, ab variant | . | | | 69 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | GSS CL E G H | 2937 | 4624 | OMIM:266130 | Glutathione synthetase deficiency | . | | | 39 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | GUF1 CL E G H | 60558 | 25799 | OMIM:617065 | Epileptic encephalopathy, early infantile, 40 | | | | 2 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | HP:0040283 - Occasional | | | 19 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | . | | | 28 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | KCNJ6 CL E G H | 3763 | 6267 | OMIM:614098 | Keppen-Lubinsky syndrome | . | | | 3 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | KCNJ6 CL E G H | 3763 | 6267 | ORPHA:435628 | Keppen-Lubinsky syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | KCNQ2 CL E G H | 3785 | 6296 | OMIM:613720 | Epileptic encephalopathy, early infantile, 7 | . | | | 528 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | L2HGDH CL E G H | 79944 | 20499 | ORPHA:79314 | L-2-hydroxyglutaric aciduria | HP:0040282 - Frequent | | | 34 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | L2HGDH CL E G H | 79944 | 20499 | OMIM:236792 | L-2-Hydroxyglutaric aciduria | . | | | 34 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | LIPT1 CL E G H | 51601 | 29569 | OMIM:616299 | Lipoyltransferase 1 deficiency | . | | | 21 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | LIPT2 CL E G H | 387787 | 37216 | OMIM:617668 | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | . | | | 2 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | LMNB1 CL E G H | 4001 | 6637 | OMIM:619179 | MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26 | | | | 44 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | LMX1B CL E G H | 4010 | 6654 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | . | | | 10 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | MFSD2A CL E G H | 84879 | 25897 | OMIM:616486 | Microcephaly 15, primary, autosomal recessive | . | | | 5 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | MOCS1 CL E G H | 4337 | 7190 | OMIM:252150 | Molybdenum cofactor deficiency, complementation group A | . | | | 96 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | MRM2 CL E G H | 29960 | 16352 | OMIM:618567 | MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17 | | | | | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | NFU1 CL E G H | 27247 | 16287 | OMIM:605711 | Multiple mitochondrial dysfunctions syndrome 1 | | | | 34 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | NUP62 CL E G H | 23636 | 8066 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040282 - Frequent | | | 7 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | PAFAH1B1 CL E G H | 5048 | 8574 | OMIM:607432 | Lissencephaly 1 | . | | | 231 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | PHACTR1 CL E G H | 221692 | 20990 | OMIM:618298 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70 | | | | 1 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | HP:0040282 - Frequent | | | 133 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280219 | Pelizaeus-Merzbacher disease, classic form | HP:0040282 - Frequent | | | 60 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280224 | Pelizaeus-Merzbacher disease, transitional form | HP:0040282 - Frequent | | | 60 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | PRDM8 CL E G H | 56978 | 13993 | ORPHA:324290 | Early-onset Lafora body disease | HP:0040283 - Occasional | | | 1 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | PRUNE1 CL E G H | 58497 | 13420 | OMIM:617481 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | . | | | 8 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | PRUNE1 CL E G H | 58497 | 13420 | ORPHA:544469 | PRUNE1-related neurological syndrome | | | | 8 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | PSAP CL E G H | 5660 | 9498 | OMIM:249900 | Metachromatic leukodystrophy due to saposin B deficiency | . | | | 81 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | HP:0040283 - Occasional | | | 27 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | PSEN1 CL E G H | 5663 | 9508 | OMIM:607822 | Alzheimer disease 3 | . | | | 241 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | REEP1 CL E G H | 65055 | 25786 | ORPHA:101011 | Autosomal dominant spastic paraplegia type 31 | HP:0040283 - Occasional | | | 87 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 304 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 16 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 237 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 129 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | SLC18A2 CL E G H | 6571 | 10935 | ORPHA:352649 | Brain dopamine-serotonin vesicular transport disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | HP:0040283 - Occasional | | | 27 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | SOD1 CL E G H | 6647 | 11179 | OMIM:618598 | SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP | | | | 53 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | SOX4 CL E G H | 6659 | 11200 | OMIM:618506 | Coffin-Siris syndrome 10 | HP:0040284 - Very rare | | | | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | STAMBP CL E G H | 10617 | 16950 | OMIM:614261 | Microcephaly-Capillary malformation syndrome | . | | | 24 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | STXBP1 CL E G H | 6812 | 11444 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040283 - Occasional | | | 237 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | TACO1 CL E G H | 51204 | 24316 | OMIM:619052 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8 | | | | 23 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | TBCE CL E G H | 6905 | 11582 | ORPHA:496756 | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | HP:0040283 - Occasional | | | 52 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | TMEM222 CL E G H | 84065 | 25363 | OMIM:619470 | NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA | | | | | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | TNR CL E G H | 7143 | 11953 | OMIM:619653 | NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO | | | | 7 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | TRAPPC4 CL E G H | 51399 | 19943 | OMIM:618741 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA | | | | 1 | | |
HP:0002273 | HP:0001285 | Spastic tetraparesis | 1 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | . | | | 224 | | |