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:0010831 | HP:0010831 | Impaired proprioception | 0 | AARS1 CL E G H | 16 | 20 | OMIM:619661 | LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2 | | | | | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | | | | 135 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | | | | 89 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447760 | Autosomal recessive spastic paraplegia type 9B | | | | 89 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:601162 | Spastic paraplegia 9A, autosomal dominant | | | | 89 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616586 | Spastic paraplegia 9B, autosomal recessive | | | | 89 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | AMPD2 CL E G H | 271 | 469 | OMIM:615686 | Spastic paraplegia 63, autosomal recessive | | | | 21 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | APTX CL E G H | 54840 | 15984 | OMIM:208920 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | | | | 61 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | ARSI CL E G H | 340075 | 32521 | ORPHA:401815 | Autosomal recessive spastic paraplegia type 66 | | | | 1 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | ATL1 CL E G H | 51062 | 11231 | ORPHA:100984 | Autosomal dominant spastic paraplegia type 3 | | | | 71 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | ATL1 CL E G H | 51062 | 11231 | OMIM:182600 | Spastic paraplegia 3, autosomal dominant | | | | 71 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | ATN1 CL E G H | 1822 | 3033 | ORPHA:101 | Dentatorubral pallidoluysian atrophy | HP:0040282 - Frequent | | | 16 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:617225 | SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78 | | | | 100 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | ATP1A1 CL E G H | 476 | 799 | OMIM:618036 | Charcot-Marie-Tooth disease, axonal, type 2DD | | | | 4 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:320360 | MT-ATP6-related mitochondrial spastic paraplegia | | | | | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | | | | 19 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | ATXN1 CL E G H | 6310 | 10548 | ORPHA:98755 | Spinocerebellar ataxia type 1 | HP:0040283 - Occasional | | | 19 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | | | | 11 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | | | | 14 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | ATXN8 CL E G H | 724066 | 32925 | ORPHA:98760 | Spinocerebellar ataxia type 8 | | | | 1 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | ATXN8OS CL E G H | 6315 | 10561 | ORPHA:98760 | Spinocerebellar ataxia type 8 | | | | 1 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | B4GALNT1 CL E G H | 2583 | 4117 | ORPHA:101006 | Autosomal recessive spastic paraplegia type 26 | | | | 25 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | BEAN1 CL E G H | 146227 | 24160 | ORPHA:217012 | Spinocerebellar ataxia type 31 | | | | 1 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | | | | 105 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:270685 | Spastic paraplegia 17 | | | | 105 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:320370 | Autosomal recessive spastic paraplegia type 43 | | | | 114 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | CACNA1G CL E G H | 8913 | 1394 | OMIM:616795 | Spinocerebellar ataxia 42 | | | | 32 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | | | | 32 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | CADM3 CL E G H | 57863 | 17601 | OMIM:619519 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF | | | | 1 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | | | | 11 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | CHP1 CL E G H | 11261 | 17433 | OMIM:618438 | Spastic ataxia 9, autosomal recessive | | | | | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | CPT1C CL E G H | 126129 | 18540 | ORPHA:444099 | Autosomal dominant spastic paraplegia type 73 | | | | 1 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | CPT1C CL E G H | 126129 | 18540 | OMIM:616282 | Spastic paraplegia 73, autosomal dominant | | | | 1 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:100986 | Autosomal recessive spastic paraplegia type 5A | | | | 57 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:270800 | Spastic paraplegia 5A, autosomal recessive | | | | 57 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | DARS2 CL E G H | 55157 | 25538 | ORPHA:137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | | | | 60 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | DCAF8 CL E G H | 50717 | 24891 | OMIM:610100 | Giant axonal neuropathy, autosomal dominant | | | | 2 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | DDHD1 CL E G H | 80821 | 19714 | ORPHA:101008 | Autosomal recessive spastic paraplegia type 28 | | | | 35 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | DHH CL E G H | 50846 | 2865 | OMIM:607080 | 46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY | | | | 21 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | DHTKD1 CL E G H | 55526 | 23537 | OMIM:615025 | Charcot-Marie-Tooth disease, axonal, type 2Q | | | | 12 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | DNAJC3 CL E G H | 5611 | 9439 | OMIM:616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | | | | 3 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | DNAJC3 CL E G H | 5611 | 9439 | ORPHA:445062 | Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | | | | 3 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | EGR2 CL E G H | 1959 | 3239 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 58 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | ERBB3 CL E G H | 2065 | 3431 | OMIM:243180 | Visceral neuropathy, familial, autosomal recessive | . | | | 12 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:209951 | Autosomal recessive spastic paraplegia type 18 | | | | 18 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | FAR1 CL E G H | 84188 | 26222 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | | | | 7 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | FGF14 CL E G H | 2259 | 3671 | OMIM:193003 | Nystagmus 4, congenital, autosomal dominant | | | | 47 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | FLRT1 CL E G H | 23769 | 3760 | ORPHA:320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome | | | | | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | FLVCR1 CL E G H | 28982 | 24682 | ORPHA:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | HP:0040281 - Very frequent | | | 111 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | HP:0040281 - Very frequent | | | 18 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | FXN CL E G H | 2395 | 3951 | OMIM:229300 | Friedreich ataxia 1 | . | | | 18 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | GARS1 CL E G H | 2617 | 4162 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | | | | | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | GBA2 CL E G H | 57704 | 18986 | ORPHA:352641 | Autosomal recessive cerebellar ataxia with late-onset spasticity | HP:0040282 - Frequent | | | 30 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | GBA2 CL E G H | 57704 | 18986 | ORPHA:320391 | Autosomal recessive spastic paraplegia type 46 | | | | 30 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | | | | 30 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | GCH1 CL E G H | 2643 | 4193 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | | | | 86 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | GCH1 CL E G H | 2643 | 4193 | OMIM:128230 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | | | | 86 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive | | | | 108 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | GPI CL E G H | 2821 | 4458 | OMIM:613470 | Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency | | | | 12 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | HARS1 CL E G H | 3035 | 4816 | ORPHA:488333 | Autosomal dominant Charcot-Marie-Tooth disease type 2W | | | | | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | HAX1 CL E G H | 10456 | 16915 | OMIM:610738 | NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 | | | | 32 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | | | | 12 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | HK1 CL E G H | 3098 | 4922 | ORPHA:99953 | Charcot-Marie-Tooth disease type 4G | | | | 11 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | HSPD1 CL E G H | 3329 | 5261 | ORPHA:100994 | Autosomal dominant spastic paraplegia type 13 | | | | 46 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | HSPD1 CL E G H | 3329 | 5261 | OMIM:605280 | Spastic paraplegia 13, autosomal dominant | | | | 46 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | IMPDH2 CL E G H | 3615 | 6053 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | | | | 1 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | IRF2BPL CL E G H | 64207 | 14282 | OMIM:618088 | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | | | | | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:619574 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH | | | | 257 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | KCNC3 CL E G H | 3748 | 6235 | OMIM:605259 | Spinocerebellar ataxia 13 | | | | 17 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | | | | 17 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | KCND3 CL E G H | 3752 | 6239 | ORPHA:98772 | Spinocerebellar ataxia type 19/22 | | | | 35 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | KIF1A CL E G H | 547 | 888 | OMIM:614213 | Neuropathy, hereditary sensory, type IIC | | | | 276 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | KIF5A CL E G H | 3798 | 6323 | ORPHA:100991 | Autosomal dominant spastic paraplegia type 10 | | | | 93 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | KIF5A CL E G H | 3798 | 6323 | OMIM:604187 | Spastic paraplegia 10, autosomal dominant | | | | 93 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | KLC2 CL E G H | 64837 | 20716 | ORPHA:320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome | | | | 1 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | KLHL9 CL E G H | 55958 | 18732 | ORPHA:399081 | KLHL9-related early-onset distal myopathy | | | | 3 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | KPNA3 CL E G H | 3839 | 6396 | ORPHA:171612 | Autosomal dominant spastic paraplegia type 37 | | | | | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | LITAF CL E G H | 9516 | 16841 | OMIM:601098 | Charcot-Marie-Tooth disease, demyelinating, type 1C | | | | 74 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | HP:0040283 - Occasional | | | 44 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | LRSAM1 CL E G H | 90678 | 25135 | OMIM:614436 | Charcot-Marie-Tooth disease, axonal, type 2P | | | | 102 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | MAG CL E G H | 4099 | 6783 | ORPHA:459056 | Autosomal recessive spastic paraplegia type 75 | | | | 4 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | MAG CL E G H | 4099 | 6783 | OMIM:616680 | Spastic paraplegia 75, autosomal recessive | | | | 4 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | | | | 203 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | | | | 203 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | | | | 8 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | | | | 8 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 134 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:618184 | Neuropathy, congenital hypomyelinating, 2 | | | | 134 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | MPZ CL E G H | 4359 | 7225 | ORPHA:3115 | Roussy-Lévy syndrome | | | | 134 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | MTRFR CL E G H | 91574 | 26784 | OMIM:615035 | Spastic paraplegia 55, autosomal recessive | | | | | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040283 - Occasional | | | 81 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | NAGLU CL E G H | 4669 | 7632 | OMIM:616491 | Charcot-Marie-Tooth disease, axonal, type 2V | | | | 72 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | NEFH CL E G H | 4744 | 7737 | OMIM:616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | | | | 24 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | HP:0040282 - Frequent | | | 118 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | NEFL CL E G H | 4747 | 7739 | OMIM:607684 | Charcot-Marie-Tooth disease, axonal, type 2E | | | | 118 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | NIPA1 CL E G H | 123606 | 17043 | ORPHA:100988 | Autosomal dominant spastic paraplegia type 6 | | | | 117 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | NIPA1 CL E G H | 123606 | 17043 | OMIM:600363 | Spastic paraplegia 6, autosomal dominant | | | | 117 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | NR4A2 CL E G H | 4929 | 7981 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | | | | 27 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | OPA3 CL E G H | 80207 | 8142 | ORPHA:67036 | Autosomal dominant optic atrophy and cataract | | | | 163 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | PDK3 CL E G H | 5165 | 8811 | ORPHA:352675 | X-linked Charcot-Marie-Tooth disease type 6 | | | | 4 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | PDYN CL E G H | 5173 | 8820 | OMIM:610245 | Spinocerebellar ataxia 23 | | | | 52 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | PDYN CL E G H | 5173 | 8820 | ORPHA:101108 | Spinocerebellar ataxia type 23 | HP:0040282 - Frequent | | | 52 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | | | | 75 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:95433 | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome | | | | 98 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:619621 | SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84 | | | | 11 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | | | | 77 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | PLD3 CL E G H | 23646 | 17158 | OMIM:617770 | Spinocerebellar ataxia 46 | | | | 2 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | PLEKHG4 CL E G H | 25894 | 24501 | ORPHA:98765 | Spinocerebellar ataxia type 4 | HP:0040281 - Very frequent | | | 4 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | | | | 105 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | PMP2 CL E G H | 5375 | 9117 | OMIM:618279 | Charcot-Marie-Tooth disease, demyelinating, type 1G | | | | 1 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:101081 | Charcot-Marie-Tooth disease type 1A | | | | 79 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | | | | 79 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 79 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:3115 | Roussy-Lévy syndrome | | | | 79 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | PNPT1 CL E G H | 87178 | 23166 | OMIM:608703 | Spinocerebellar ataxia 25 | | | | 60 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | | | | 464 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | | | | 464 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:94125 | Recessive mitochondrial ataxia syndrome | | | | 464 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | | | | 464 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | | | | 138 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:619742 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I | | | | 67 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | PRDM12 CL E G H | 59335 | 13997 | OMIM:616488 | Neuropathy, hereditary sensory and autonomic, type VIII | | | | 6 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | PRKCG CL E G H | 5582 | 9402 | OMIM:605361 | Spinocerebellar ataxia 14 | | | | 83 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | PRX CL E G H | 57716 | 13797 | OMIM:614895 | Charcot-Marie-Tooth disease, demyelinating, type 4F | | | | 170 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | PRX CL E G H | 57716 | 13797 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 170 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | REEP1 CL E G H | 65055 | 25786 | ORPHA:101011 | Autosomal dominant spastic paraplegia type 31 | HP:0040282 - Frequent | | | 87 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | REEP1 CL E G H | 65055 | 25786 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | | | | 87 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | REEP2 CL E G H | 51308 | 17975 | ORPHA:401849 | Autosomal spastic paraplegia type 72 | | | | 3 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | RFC1 CL E G H | 5981 | 9969 | OMIM:614575 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | | | | | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | RNF170 CL E G H | 81790 | 25358 | OMIM:608984 | Ataxia, sensory, autosomal dominant | | | | 3 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | RNF170 CL E G H | 81790 | 25358 | OMIM:619686 | SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85 | | | | 3 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | RTN2 CL E G H | 6253 | 10468 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | HP:0040282 - Frequent | | | 25 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | RTN2 CL E G H | 6253 | 10468 | OMIM:604805 | Spastic paraplegia 12, autosomal dominant | | | | 25 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | | | | 309 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | | | | 309 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | SAMD9L CL E G H | 219285 | 1349 | OMIM:159550 | Ataxia-Pancytopenia syndrome | | | | 4 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | SAR1B CL E G H | 51128 | 10535 | OMIM:246700 | Chylomicron retention disease | | | | 8 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | SAR1B CL E G H | 51128 | 10535 | ORPHA:71 | Chylomicron retention disease | HP:0040284 - Very rare | | | 8 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | SCO2 CL E G H | 9997 | 10604 | ORPHA:521411 | Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect | | | | 40 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | | | | 162 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | | | | 493 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | SLC25A15 CL E G H | 10166 | 10985 | OMIM:238970 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome | | | | 88 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | | | | 88 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | SLC33A1 CL E G H | 9197 | 95 | ORPHA:171863 | Autosomal dominant spastic paraplegia type 42 | | | | 48 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | SORD CL E G H | 6652 | 11184 | OMIM:618912 | SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD | | | | | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | SPART CL E G H | 23111 | 18514 | ORPHA:101000 | Autosomal recessive spastic paraplegia type 20 | | | | 66 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | SPAST CL E G H | 6683 | 11233 | ORPHA:100985 | Autosomal dominant spastic paraplegia type 4 | | | | 208 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | SPAST CL E G H | 6683 | 11233 | OMIM:182601 | Spastic paraplegia 4, autosomal dominant | | | | 208 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | | | | 287 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | SPG7 CL E G H | 6687 | 11237 | OMIM:607259 | Spastic paraplegia 7, autosomal recessive | | | | 171 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | SPG7 CL E G H | 6687 | 11237 | ORPHA:99013 | Spastic paraplegia type 7 | | | | 171 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:600224 | Spinocerebellar ataxia 5 | | | | 126 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | | | | 54 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | SPTLC2 CL E G H | 9517 | 11278 | OMIM:613640 | Neuropathy, hereditary sensory and autonomic, type IC | | | | 149 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040282 - Frequent | | | 14 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | | | | 1129 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | | | | 7 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | TDP1 CL E G H | 55775 | 18884 | ORPHA:94124 | Spinocerebellar ataxia with axonal neuropathy type 1 | | | | 52 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | TGM6 CL E G H | 343641 | 16255 | OMIM:613908 | Spinocerebellar ataxia 35 | | | | 58 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | TPP1 CL E G H | 1200 | 2073 | ORPHA:284324 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | | | | 203 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | TPP1 CL E G H | 1200 | 2073 | OMIM:609270 | Spinocerebellar ataxia, autosomal recessive 7 | | | | 203 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:2596 | Myopathy and diabetes mellitus | | | | | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | TTPA CL E G H | 7274 | 12404 | OMIM:277460 | VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF | | | | 62 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:616138 | Perrault syndrome 5 | | | | 113 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | | | | 113 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | | | | 113 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | UBAP1 CL E G H | 51271 | 12461 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | HP:0040282 - Frequent | | | | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | | | | 21 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:251282 | Autosomal dominant spastic ataxia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | | | | 63 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | | | | 130 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | VPS13D CL E G H | 55187 | 23595 | ORPHA:95434 | Autosomal recessive cerebellar ataxia-movement disorder syndrome | HP:0040282 - Frequent | | | | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | VPS37A CL E G H | 137492 | 24928 | ORPHA:319199 | Autosomal recessive spastic paraplegia type 53 | HP:0040284 - Very rare | | | 7 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | VPS37A CL E G H | 137492 | 24928 | OMIM:614898 | SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53 | | | | 7 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | VPS41 CL E G H | 27072 | 12713 | ORPHA:95434 | Autosomal recessive cerebellar ataxia-movement disorder syndrome | HP:0040282 - Frequent | | | | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:100989 | Autosomal dominant spastic paraplegia type 8 | | | | 83 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | WASHC5 CL E G H | 9897 | 28984 | OMIM:603563 | Spastic paraplegia 8, autosomal dominant | | | | 83 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | WDR48 CL E G H | 57599 | 30914 | ORPHA:401800 | Autosomal recessive spastic paraplegia type 60 | | | | 1 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | XK CL E G H | 7504 | 12811 | OMIM:300842 | Mcleod syndrome | | | | 8 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | XRCC1 CL E G H | 7515 | 12828 | OMIM:617633 | Spinocerebellar ataxia, autosomal recessive 26 | | | | 4 | | |
HP:0010831 | HP:0010831 | Impaired proprioception | 0 | ZFYVE26 CL E G H | 23503 | 20761 | ORPHA:100996 | Autosomal recessive spastic paraplegia type 15 | | | | 189 | | |
HP:0010831 | HP:0010871 | Sensory ataxia | 1 | AARS1 CL E G H | 16 | 20 | OMIM:619661 | LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2 | | | | | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | | | | 135 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | | | | 89 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447760 | Autosomal recessive spastic paraplegia type 9B | | | | 89 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:601162 | Spastic paraplegia 9A, autosomal dominant | HP:0040283 - Occasional | | | 89 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616586 | Spastic paraplegia 9B, autosomal recessive | | | | 89 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | AMPD2 CL E G H | 271 | 469 | OMIM:615686 | Spastic paraplegia 63, autosomal recessive | | | | 21 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | APTX CL E G H | 54840 | 15984 | OMIM:208920 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | | | | 61 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | ARSI CL E G H | 340075 | 32521 | ORPHA:401815 | Autosomal recessive spastic paraplegia type 66 | | | | 1 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | ATL1 CL E G H | 51062 | 11231 | ORPHA:100984 | Autosomal dominant spastic paraplegia type 3 | HP:0040283 - Occasional | | | 71 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | ATL1 CL E G H | 51062 | 11231 | OMIM:182600 | Spastic paraplegia 3, autosomal dominant | | | | 71 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:617225 | SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78 | | | | 100 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | ATP1A1 CL E G H | 476 | 799 | OMIM:618036 | Charcot-Marie-Tooth disease, axonal, type 2DD | | | | 4 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:320360 | MT-ATP6-related mitochondrial spastic paraplegia | | | | | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | | | | 19 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | . | | | 11 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | . | | | 14 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | ATXN8 CL E G H | 724066 | 32925 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040283 - Occasional | | | 1 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | ATXN8OS CL E G H | 6315 | 10561 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040283 - Occasional | | | 1 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | B4GALNT1 CL E G H | 2583 | 4117 | ORPHA:101006 | Autosomal recessive spastic paraplegia type 26 | | | | 25 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | BEAN1 CL E G H | 146227 | 24160 | ORPHA:217012 | Spinocerebellar ataxia type 31 | HP:0040283 - Occasional | | | 1 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040282 - Frequent | | | 105 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | BSCL2 CL E G H | 26580 | 15832 | OMIM:270685 | Spastic paraplegia 17 | | | | 105 | | |
HP:0010831 | HP:0006858 | Impaired distal proprioception | 1 | BSCL2 CL E G H | 26580 | 15832 | OMIM:270685 | Spastic paraplegia 17 | | | | 105 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:320370 | Autosomal recessive spastic paraplegia type 43 | HP:0040282 - Frequent | | | 114 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | CACNA1G CL E G H | 8913 | 1394 | OMIM:616795 | Spinocerebellar ataxia 42 | | | | 32 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | | | | 32 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | CADM3 CL E G H | 57863 | 17601 | OMIM:619519 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF | | | | 1 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | | | | 11 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | CHP1 CL E G H | 11261 | 17433 | OMIM:618438 | Spastic ataxia 9, autosomal recessive | | | | | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | CPT1C CL E G H | 126129 | 18540 | ORPHA:444099 | Autosomal dominant spastic paraplegia type 73 | | | | 1 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | CPT1C CL E G H | 126129 | 18540 | OMIM:616282 | Spastic paraplegia 73, autosomal dominant | | | | 1 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:100986 | Autosomal recessive spastic paraplegia type 5A | HP:0040281 - Very frequent | | | 57 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:270800 | Spastic paraplegia 5A, autosomal recessive | | | | 57 | | |
HP:0010831 | HP:0006858 | Impaired distal proprioception | 1 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:270800 | Spastic paraplegia 5A, autosomal recessive | . | | | 57 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | DARS2 CL E G H | 55157 | 25538 | ORPHA:137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | | | | 60 | | |
HP:0010831 | HP:0006858 | Impaired distal proprioception | 1 | DARS2 CL E G H | 55157 | 25538 | ORPHA:137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | DCAF8 CL E G H | 50717 | 24891 | OMIM:610100 | Giant axonal neuropathy, autosomal dominant | | | | 2 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | DDHD1 CL E G H | 80821 | 19714 | ORPHA:101008 | Autosomal recessive spastic paraplegia type 28 | | | | 35 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | DHH CL E G H | 50846 | 2865 | OMIM:607080 | 46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY | | | | 21 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | DHTKD1 CL E G H | 55526 | 23537 | OMIM:615025 | Charcot-Marie-Tooth disease, axonal, type 2Q | | | | 12 | | |
HP:0010831 | HP:0010871 | Sensory ataxia | 1 | DNAJC3 CL E G H | 5611 | 9439 | OMIM:616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | | | | 3 | | |
HP:0010831 | HP:0010871 | Sensory ataxia | 1 | DNAJC3 CL E G H | 5611 | 9439 | ORPHA:445062 | Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | EGR2 CL E G H | 1959 | 3239 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 58 | | |
HP:0010831 | HP:0010871 | Sensory ataxia | 1 | EGR2 CL E G H | 1959 | 3239 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 58 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | ERBB3 CL E G H | 2065 | 3431 | OMIM:243180 | Visceral neuropathy, familial, autosomal recessive | . | | | 12 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:209951 | Autosomal recessive spastic paraplegia type 18 | | | | 18 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | FAR1 CL E G H | 84188 | 26222 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | | | | 7 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | FGF14 CL E G H | 2259 | 3671 | OMIM:193003 | Nystagmus 4, congenital, autosomal dominant | | | | 47 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | FLRT1 CL E G H | 23769 | 3760 | ORPHA:320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome | | | | | | |
HP:0010831 | HP:0010871 | Sensory ataxia | 1 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0010831 | HP:0002403 | Positive Romberg sign | 1 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | . | | | 111 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | FLVCR1 CL E G H | 28982 | 24682 | ORPHA:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | | | | 111 | | |
HP:0010831 | HP:0002403 | Positive Romberg sign | 1 | FLVCR1 CL E G H | 28982 | 24682 | ORPHA:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | HP:0040283 - Occasional | | | 111 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | FXN CL E G H | 2395 | 3951 | OMIM:229300 | Friedreich ataxia 1 | . | | | 18 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | GARS1 CL E G H | 2617 | 4162 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040282 - Frequent | | | | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | GBA2 CL E G H | 57704 | 18986 | ORPHA:352641 | Autosomal recessive cerebellar ataxia with late-onset spasticity | | | | 30 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | GBA2 CL E G H | 57704 | 18986 | ORPHA:320391 | Autosomal recessive spastic paraplegia type 46 | | | | 30 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | | | | 30 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | GCH1 CL E G H | 2643 | 4193 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | | | | 86 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | GCH1 CL E G H | 2643 | 4193 | OMIM:128230 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | | | | 86 | | |
HP:0010831 | HP:0006858 | Impaired distal proprioception | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0010831 | HP:0006858 | Impaired distal proprioception | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive | | | | 108 | | |
HP:0010831 | HP:0010871 | Sensory ataxia | 1 | GPI CL E G H | 2821 | 4458 | OMIM:613470 | Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency | . | | | 12 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | HARS1 CL E G H | 3035 | 4816 | ORPHA:488333 | Autosomal dominant Charcot-Marie-Tooth disease type 2W | | | | | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | HAX1 CL E G H | 10456 | 16915 | OMIM:610738 | NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 | | | | 32 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | | | | 12 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | HK1 CL E G H | 3098 | 4922 | ORPHA:99953 | Charcot-Marie-Tooth disease type 4G | HP:0040281 - Very frequent | | | 11 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | HSPD1 CL E G H | 3329 | 5261 | ORPHA:100994 | Autosomal dominant spastic paraplegia type 13 | | | | 46 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | HSPD1 CL E G H | 3329 | 5261 | OMIM:605280 | Spastic paraplegia 13, autosomal dominant | | | | 46 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | IMPDH2 CL E G H | 3615 | 6053 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | | | | 1 | | |
HP:0010831 | HP:0002403 | Positive Romberg sign | 1 | IRF2BPL CL E G H | 64207 | 14282 | OMIM:618088 | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | | | | | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | JAG1 CL E G H | 182 | 6188 | OMIM:619574 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH | | | | 257 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | KCNC3 CL E G H | 3748 | 6235 | OMIM:605259 | Spinocerebellar ataxia 13 | | | | 17 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | | | | 17 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | KCND3 CL E G H | 3752 | 6239 | ORPHA:98772 | Spinocerebellar ataxia type 19/22 | | | | 35 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | KIF1A CL E G H | 547 | 888 | OMIM:614213 | Neuropathy, hereditary sensory, type IIC | | | | 276 | | |
HP:0010831 | HP:0006858 | Impaired distal proprioception | 1 | KIF1A CL E G H | 547 | 888 | OMIM:614213 | Neuropathy, hereditary sensory, type IIC | | | | 276 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | KIF5A CL E G H | 3798 | 6323 | ORPHA:100991 | Autosomal dominant spastic paraplegia type 10 | | | | 93 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | KIF5A CL E G H | 3798 | 6323 | OMIM:604187 | Spastic paraplegia 10, autosomal dominant | | | | 93 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | KLC2 CL E G H | 64837 | 20716 | ORPHA:320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome | | | | 1 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | KLHL9 CL E G H | 55958 | 18732 | ORPHA:399081 | KLHL9-related early-onset distal myopathy | | | | 3 | | |
HP:0010831 | HP:0002403 | Positive Romberg sign | 1 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | KPNA3 CL E G H | 3839 | 6396 | ORPHA:171612 | Autosomal dominant spastic paraplegia type 37 | | | | | | |
HP:0010831 | HP:0002403 | Positive Romberg sign | 1 | LITAF CL E G H | 9516 | 16841 | OMIM:601098 | Charcot-Marie-Tooth disease, demyelinating, type 1C | | | | 74 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | | | | 44 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | LRSAM1 CL E G H | 90678 | 25135 | OMIM:614436 | Charcot-Marie-Tooth disease, axonal, type 2P | | | | 102 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | MAG CL E G H | 4099 | 6783 | ORPHA:459056 | Autosomal recessive spastic paraplegia type 75 | HP:0040281 - Very frequent | | | 4 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | MAG CL E G H | 4099 | 6783 | OMIM:616680 | Spastic paraplegia 75, autosomal recessive | | | | 4 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | HP:0040282 - Frequent | | | 203 | | |
HP:0010831 | HP:0002403 | Positive Romberg sign | 1 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | . | | | 203 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040282 - Frequent | | | 8 | | |
HP:0010831 | HP:0006858 | Impaired distal proprioception | 1 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | | | | 8 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | | | | 8 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 134 | | |
HP:0010831 | HP:0010871 | Sensory ataxia | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 134 | | |
HP:0010831 | HP:0010871 | Sensory ataxia | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:618184 | Neuropathy, congenital hypomyelinating, 2 | | | | 134 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | MPZ CL E G H | 4359 | 7225 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | MTRFR CL E G H | 91574 | 26784 | OMIM:615035 | Spastic paraplegia 55, autosomal recessive | | | | | | |
HP:0010831 | HP:0006858 | Impaired distal proprioception | 1 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040283 - Occasional | | | 81 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040283 - Occasional | | | 81 | | |
HP:0010831 | HP:0002403 | Positive Romberg sign | 1 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040283 - Occasional | | | 81 | | |
HP:0010831 | HP:0010871 | Sensory ataxia | 1 | NAGLU CL E G H | 4669 | 7632 | OMIM:616491 | Charcot-Marie-Tooth disease, axonal, type 2V | HP:0040283 - Occasional | | | 72 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | NEFH CL E G H | 4744 | 7737 | OMIM:616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | | | | 24 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | HP:0040282 - Frequent | | | 118 | | |
HP:0010831 | HP:0002403 | Positive Romberg sign | 1 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | HP:0040282 - Frequent | | | 118 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | NEFL CL E G H | 4747 | 7739 | OMIM:607684 | Charcot-Marie-Tooth disease, axonal, type 2E | | | | 118 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | NIPA1 CL E G H | 123606 | 17043 | ORPHA:100988 | Autosomal dominant spastic paraplegia type 6 | HP:0040281 - Very frequent | | | 117 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | NIPA1 CL E G H | 123606 | 17043 | OMIM:600363 | Spastic paraplegia 6, autosomal dominant | | | | 117 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | NR4A2 CL E G H | 4929 | 7981 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | | | | 27 | | |
HP:0010831 | HP:0002403 | Positive Romberg sign | 1 | OPA3 CL E G H | 80207 | 8142 | ORPHA:67036 | Autosomal dominant optic atrophy and cataract | HP:0040283 - Occasional | | | 163 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | PDK3 CL E G H | 5165 | 8811 | ORPHA:352675 | X-linked Charcot-Marie-Tooth disease type 6 | | | | 4 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | PDYN CL E G H | 5173 | 8820 | OMIM:610245 | Spinocerebellar ataxia 23 | | | | 52 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | PDYN CL E G H | 5173 | 8820 | ORPHA:101108 | Spinocerebellar ataxia type 23 | | | | 52 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | | | | 75 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | PEX6 CL E G H | 5190 | 8859 | ORPHA:95433 | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome | | | | 98 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | PI4KA CL E G H | 5297 | 8983 | OMIM:619621 | SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84 | | | | 11 | | |
HP:0010831 | HP:0010871 | Sensory ataxia | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | . | HP:0003577 - Congenital onset | | 77 | | |
HP:0010831 | HP:0002403 | Positive Romberg sign | 1 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0010831 | HP:0002403 | Positive Romberg sign | 1 | PLD3 CL E G H | 23646 | 17158 | OMIM:617770 | Spinocerebellar ataxia 46 | . | | | 2 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | PLEKHG4 CL E G H | 25894 | 24501 | ORPHA:98765 | Spinocerebellar ataxia type 4 | HP:0040281 - Very frequent | | | 4 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | HP:0040283 - Occasional | | | 105 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | PMP2 CL E G H | 5375 | 9117 | OMIM:618279 | Charcot-Marie-Tooth disease, demyelinating, type 1G | | | | 1 | | |
HP:0010831 | HP:0010871 | Sensory ataxia | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:101081 | Charcot-Marie-Tooth disease type 1A | HP:0040282 - Frequent | | | 79 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | | | | 79 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 79 | | |
HP:0010831 | HP:0010871 | Sensory ataxia | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 79 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040282 - Frequent | | | 79 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | PNPT1 CL E G H | 87178 | 23166 | OMIM:608703 | Spinocerebellar ataxia 25 | | | | 60 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | | | | 464 | | |
HP:0010831 | HP:0006858 | Impaired distal proprioception | 1 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | | | | 464 | | |
HP:0010831 | HP:0006858 | Impaired distal proprioception | 1 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | . | | | 464 | | |
HP:0010831 | HP:0002403 | Positive Romberg sign | 1 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | . | | | 464 | | |
HP:0010831 | HP:0002403 | Positive Romberg sign | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:94125 | Recessive mitochondrial ataxia syndrome | HP:0040282 - Frequent | | | 464 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:94125 | Recessive mitochondrial ataxia syndrome | HP:0040282 - Frequent | | | 464 | | |
HP:0010831 | HP:0010871 | Sensory ataxia | 1 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0010831 | HP:0006858 | Impaired distal proprioception | 1 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 464 | | |
HP:0010831 | HP:0002403 | Positive Romberg sign | 1 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 464 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0010831 | HP:0002403 | Positive Romberg sign | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | HP:0040282 - Frequent | | | 464 | | |
HP:0010831 | HP:0006858 | Impaired distal proprioception | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | HP:0040282 - Frequent | | | 464 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | HP:0040282 - Frequent | | | 464 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | | | | 138 | | |
HP:0010831 | HP:0006858 | Impaired distal proprioception | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0010831 | HP:0002403 | Positive Romberg sign | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | POLR3B CL E G H | 55703 | 30348 | OMIM:619742 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I | | | | 67 | | |
HP:0010831 | HP:0006858 | Impaired distal proprioception | 1 | POLR3B CL E G H | 55703 | 30348 | OMIM:619742 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I | | | | 67 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | PRDM12 CL E G H | 59335 | 13997 | OMIM:616488 | Neuropathy, hereditary sensory and autonomic, type VIII | | | | 6 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | PRKCG CL E G H | 5582 | 9402 | OMIM:605361 | Spinocerebellar ataxia 14 | | | | 83 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0010831 | HP:0010871 | Sensory ataxia | 1 | PRX CL E G H | 57716 | 13797 | OMIM:614895 | Charcot-Marie-Tooth disease, demyelinating, type 4F | HP:0040283 - Occasional | | | 170 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | PRX CL E G H | 57716 | 13797 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 170 | | |
HP:0010831 | HP:0010871 | Sensory ataxia | 1 | PRX CL E G H | 57716 | 13797 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 170 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | REEP1 CL E G H | 65055 | 25786 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040282 - Frequent | | | 87 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | REEP2 CL E G H | 51308 | 17975 | ORPHA:401849 | Autosomal spastic paraplegia type 72 | | | | 3 | | |
HP:0010831 | HP:0002403 | Positive Romberg sign | 1 | RFC1 CL E G H | 5981 | 9969 | OMIM:614575 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | . | | | | | |
HP:0010831 | HP:0010871 | Sensory ataxia | 1 | RNF170 CL E G H | 81790 | 25358 | OMIM:608984 | Ataxia, sensory, autosomal dominant | . | | | 3 | | |
HP:0010831 | HP:0002403 | Positive Romberg sign | 1 | RNF170 CL E G H | 81790 | 25358 | OMIM:608984 | Ataxia, sensory, autosomal dominant | . | | | 3 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | RNF170 CL E G H | 81790 | 25358 | OMIM:619686 | SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85 | | | | 3 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | RTN2 CL E G H | 6253 | 10468 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | | | | 25 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | RTN2 CL E G H | 6253 | 10468 | OMIM:604805 | Spastic paraplegia 12, autosomal dominant | | | | 25 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | HP:0040283 - Occasional | | | 309 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | | | | 309 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | SAMD9L CL E G H | 219285 | 1349 | OMIM:159550 | Ataxia-Pancytopenia syndrome | | | | 4 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | SAR1B CL E G H | 51128 | 10535 | OMIM:246700 | Chylomicron retention disease | . | | | 8 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | SCO2 CL E G H | 9997 | 10604 | ORPHA:521411 | Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect | | | | 40 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | | | | 162 | | |
HP:0010831 | HP:0010871 | Sensory ataxia | 1 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | HP:0040283 - Occasional | | | 493 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | | | | 493 | | |
HP:0010831 | HP:0002403 | Positive Romberg sign | 1 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | HP:0040282 - Frequent | | | 493 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | SLC25A15 CL E G H | 10166 | 10985 | OMIM:238970 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome | . | | | 88 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | SLC33A1 CL E G H | 9197 | 95 | ORPHA:171863 | Autosomal dominant spastic paraplegia type 42 | | | | 48 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | SORD CL E G H | 6652 | 11184 | OMIM:618912 | SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD | | | | | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | SPART CL E G H | 23111 | 18514 | ORPHA:101000 | Autosomal recessive spastic paraplegia type 20 | HP:0040282 - Frequent | | | 66 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | SPAST CL E G H | 6683 | 11233 | ORPHA:100985 | Autosomal dominant spastic paraplegia type 4 | | | | 208 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | SPAST CL E G H | 6683 | 11233 | OMIM:182601 | Spastic paraplegia 4, autosomal dominant | | | | 208 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | | | | 287 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | SPG7 CL E G H | 6687 | 11237 | OMIM:607259 | Spastic paraplegia 7, autosomal recessive | | | | 171 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | SPG7 CL E G H | 6687 | 11237 | ORPHA:99013 | Spastic paraplegia type 7 | | | | 171 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:600224 | Spinocerebellar ataxia 5 | . | | | 126 | | |
HP:0010831 | HP:0006858 | Impaired distal proprioception | 1 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | | | | 54 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | SPTLC2 CL E G H | 9517 | 11278 | OMIM:613640 | Neuropathy, hereditary sensory and autonomic, type IC | | | | 149 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | HP:0040284 - Very rare | | | 1129 | | |
HP:0010831 | HP:0002403 | Positive Romberg sign | 1 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | . | | | 7 | | |
HP:0010831 | HP:0006858 | Impaired distal proprioception | 1 | TDP1 CL E G H | 55775 | 18884 | ORPHA:94124 | Spinocerebellar ataxia with axonal neuropathy type 1 | HP:0040282 - Frequent | | | 52 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | TDP1 CL E G H | 55775 | 18884 | ORPHA:94124 | Spinocerebellar ataxia with axonal neuropathy type 1 | | | | 52 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | TPP1 CL E G H | 1200 | 2073 | ORPHA:284324 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | HP:0040282 - Frequent | | | 203 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | TPP1 CL E G H | 1200 | 2073 | OMIM:609270 | Spinocerebellar ataxia, autosomal recessive 7 | . | | | 203 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | TRNE CL E G H | 4556 | 7479 | ORPHA:2596 | Myopathy and diabetes mellitus | HP:0040284 - Very rare | | | | | |
HP:0010831 | HP:0002403 | Positive Romberg sign | 1 | TTPA CL E G H | 7274 | 12404 | OMIM:277460 | VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF | | | | 62 | | |
HP:0010831 | HP:0002403 | Positive Romberg sign | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:616138 | Perrault syndrome 5 | . | | | 113 | | |
HP:0010831 | HP:0010871 | Sensory ataxia | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | . | | | 113 | | |
HP:0010831 | HP:0002403 | Positive Romberg sign | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 113 | | |
HP:0010831 | HP:0006858 | Impaired distal proprioception | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 113 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0010831 | HP:0010871 | Sensory ataxia | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0010831 | HP:0006858 | Impaired distal proprioception | 1 | TWNK CL E G H | 56652 | 1160 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | HP:0040282 - Frequent | | | 113 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | TWNK CL E G H | 56652 | 1160 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | HP:0040282 - Frequent | | | 113 | | |
HP:0010831 | HP:0002403 | Positive Romberg sign | 1 | TWNK CL E G H | 56652 | 1160 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | HP:0040282 - Frequent | | | 113 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | UBAP1 CL E G H | 51271 | 12461 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | | | | | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | | | | 21 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:251282 | Autosomal dominant spastic ataxia type 1 | | | | 2 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | | | | 63 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040282 - Frequent | | | 130 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | VPS37A CL E G H | 137492 | 24928 | ORPHA:319199 | Autosomal recessive spastic paraplegia type 53 | HP:0040283 - Occasional | | | 7 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | VPS37A CL E G H | 137492 | 24928 | OMIM:614898 | SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53 | | | | 7 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:100989 | Autosomal dominant spastic paraplegia type 8 | | | | 83 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | WASHC5 CL E G H | 9897 | 28984 | OMIM:603563 | Spastic paraplegia 8, autosomal dominant | | | | 83 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | WDR48 CL E G H | 57599 | 30914 | ORPHA:401800 | Autosomal recessive spastic paraplegia type 60 | | | | 1 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | XK CL E G H | 7504 | 12811 | OMIM:300842 | Mcleod syndrome | | | | 8 | | |
HP:0010831 | HP:0002403 | Positive Romberg sign | 1 | XRCC1 CL E G H | 7515 | 12828 | OMIM:617633 | Spinocerebellar ataxia, autosomal recessive 26 | . | | | 4 | | |
HP:0010831 | HP:0006858 | Impaired distal proprioception | 1 | XRCC1 CL E G H | 7515 | 12828 | OMIM:617633 | Spinocerebellar ataxia, autosomal recessive 26 | | | | 4 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | XRCC1 CL E G H | 7515 | 12828 | OMIM:617633 | Spinocerebellar ataxia, autosomal recessive 26 | | | | 4 | | |
HP:0010831 | HP:0002495 | Impaired vibratory sensation | 1 | ZFYVE26 CL E G H | 23503 | 20761 | ORPHA:100996 | Autosomal recessive spastic paraplegia type 15 | HP:0040283 - Occasional | | | 189 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | | | | 135 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | | | | 135 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | HP:0040283 - Occasional | | | 89 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447760 | Autosomal recessive spastic paraplegia type 9B | | | | 89 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447760 | Autosomal recessive spastic paraplegia type 9B | | | | 89 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616586 | Spastic paraplegia 9B, autosomal recessive | | | | 89 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | AMPD2 CL E G H | 271 | 469 | OMIM:615686 | Spastic paraplegia 63, autosomal recessive | | | | 21 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | AMPD2 CL E G H | 271 | 469 | OMIM:615686 | Spastic paraplegia 63, autosomal recessive | | | | 21 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | APTX CL E G H | 54840 | 15984 | OMIM:208920 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | | | | 61 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | ARSI CL E G H | 340075 | 32521 | ORPHA:401815 | Autosomal recessive spastic paraplegia type 66 | HP:0040282 - Frequent | | | 1 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | ATL1 CL E G H | 51062 | 11231 | OMIM:182600 | Spastic paraplegia 3, autosomal dominant | . | | | 71 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | ATP1A1 CL E G H | 476 | 799 | OMIM:618036 | Charcot-Marie-Tooth disease, axonal, type 2DD | | | | 4 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | ATP6 CL E G H | 4508 | 7414 | ORPHA:320360 | MT-ATP6-related mitochondrial spastic paraplegia | HP:0040281 - Very frequent | | | | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | B4GALNT1 CL E G H | 2583 | 4117 | ORPHA:101006 | Autosomal recessive spastic paraplegia type 26 | | | | 25 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | B4GALNT1 CL E G H | 2583 | 4117 | ORPHA:101006 | Autosomal recessive spastic paraplegia type 26 | | | | 25 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | BSCL2 CL E G H | 26580 | 15832 | OMIM:270685 | Spastic paraplegia 17 | . | | | 105 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | CACNA1G CL E G H | 8913 | 1394 | OMIM:616795 | Spinocerebellar ataxia 42 | | | | 32 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | CACNA1G CL E G H | 8913 | 1394 | OMIM:616795 | Spinocerebellar ataxia 42 | | | | 32 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | | | | 32 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | | | | 32 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | CADM3 CL E G H | 57863 | 17601 | OMIM:619519 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF | | | | 1 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | HP:0040283 - Occasional | | | 11 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | CHP1 CL E G H | 11261 | 17433 | OMIM:618438 | Spastic ataxia 9, autosomal recessive | | | | | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | CPT1C CL E G H | 126129 | 18540 | ORPHA:444099 | Autosomal dominant spastic paraplegia type 73 | HP:0040282 - Frequent | | | 1 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | CPT1C CL E G H | 126129 | 18540 | OMIM:616282 | Spastic paraplegia 73, autosomal dominant | | | | 1 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:270800 | Spastic paraplegia 5A, autosomal recessive | | | | 57 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | DARS2 CL E G H | 55157 | 25538 | ORPHA:137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | DCAF8 CL E G H | 50717 | 24891 | OMIM:610100 | Giant axonal neuropathy, autosomal dominant | . | | | 2 | | |
HP:0010831 | HP:0006944 | Abolished vibration sense | 2 | DDHD1 CL E G H | 80821 | 19714 | ORPHA:101008 | Autosomal recessive spastic paraplegia type 28 | HP:0040282 - Frequent | | | 35 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | DHH CL E G H | 50846 | 2865 | OMIM:607080 | 46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY | | | | 21 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | DHTKD1 CL E G H | 55526 | 23537 | OMIM:615025 | Charcot-Marie-Tooth disease, axonal, type 2Q | | | | 12 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | EGR2 CL E G H | 1959 | 3239 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 58 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:209951 | Autosomal recessive spastic paraplegia type 18 | HP:0040283 - Occasional | | | 18 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | FAR1 CL E G H | 84188 | 26222 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | HP:0040283 - Occasional | | | 7 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | FLRT1 CL E G H | 23769 | 3760 | ORPHA:320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome | HP:0040282 - Frequent | | | | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | FLVCR1 CL E G H | 28982 | 24682 | ORPHA:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | HP:0040281 - Very frequent | | | 111 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | GBA2 CL E G H | 57704 | 18986 | ORPHA:352641 | Autosomal recessive cerebellar ataxia with late-onset spasticity | HP:0040283 - Occasional | | | 30 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | GBA2 CL E G H | 57704 | 18986 | ORPHA:320391 | Autosomal recessive spastic paraplegia type 46 | | | | 30 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | GBA2 CL E G H | 57704 | 18986 | ORPHA:320391 | Autosomal recessive spastic paraplegia type 46 | | | | 30 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | HP:0040283 - Occasional | | | 30 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | GCH1 CL E G H | 2643 | 4193 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040283 - Occasional | | | 86 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | GCH1 CL E G H | 2643 | 4193 | OMIM:128230 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | | | | 86 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive | | | | 108 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | HARS1 CL E G H | 3035 | 4816 | ORPHA:488333 | Autosomal dominant Charcot-Marie-Tooth disease type 2W | HP:0040281 - Very frequent | | | | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | HP:0040283 - Occasional | | | 12 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | HSPD1 CL E G H | 3329 | 5261 | ORPHA:100994 | Autosomal dominant spastic paraplegia type 13 | HP:0040282 - Frequent | | | 46 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | HSPD1 CL E G H | 3329 | 5261 | OMIM:605280 | Spastic paraplegia 13, autosomal dominant | . | | | 46 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | IMPDH2 CL E G H | 3615 | 6053 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040283 - Occasional | | | 1 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | JAG1 CL E G H | 182 | 6188 | OMIM:619574 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH | | | | 257 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | KCNC3 CL E G H | 3748 | 6235 | OMIM:605259 | Spinocerebellar ataxia 13 | | | | 17 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | HP:0040282 - Frequent | | | 17 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | KCND3 CL E G H | 3752 | 6239 | ORPHA:98772 | Spinocerebellar ataxia type 19/22 | | | | 35 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | KCND3 CL E G H | 3752 | 6239 | ORPHA:98772 | Spinocerebellar ataxia type 19/22 | | | | 35 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | KIF1A CL E G H | 547 | 888 | OMIM:614213 | Neuropathy, hereditary sensory, type IIC | | | | 276 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | KIF5A CL E G H | 3798 | 6323 | ORPHA:100991 | Autosomal dominant spastic paraplegia type 10 | HP:0040282 - Frequent | | | 93 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | KIF5A CL E G H | 3798 | 6323 | OMIM:604187 | Spastic paraplegia 10, autosomal dominant | . | | | 93 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | KLC2 CL E G H | 64837 | 20716 | ORPHA:320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | KLHL9 CL E G H | 55958 | 18732 | ORPHA:399081 | KLHL9-related early-onset distal myopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | KPNA3 CL E G H | 3839 | 6396 | ORPHA:171612 | Autosomal dominant spastic paraplegia type 37 | HP:0040282 - Frequent | | | | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | HP:0040283 - Occasional | | | 44 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | LRSAM1 CL E G H | 90678 | 25135 | OMIM:614436 | Charcot-Marie-Tooth disease, axonal, type 2P | . | | | 102 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | MAG CL E G H | 4099 | 6783 | OMIM:616680 | Spastic paraplegia 75, autosomal recessive | | | | 4 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | | | | 8 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | MPZ CL E G H | 4359 | 7225 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 134 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | MTRFR CL E G H | 91574 | 26784 | OMIM:615035 | Spastic paraplegia 55, autosomal recessive | | | | | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | NEFL CL E G H | 4747 | 7739 | OMIM:607684 | Charcot-Marie-Tooth disease, axonal, type 2E | | | | 118 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | NIPA1 CL E G H | 123606 | 17043 | OMIM:600363 | Spastic paraplegia 6, autosomal dominant | . | | | 117 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | NR4A2 CL E G H | 4929 | 7981 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040283 - Occasional | | | 27 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | PDK3 CL E G H | 5165 | 8811 | ORPHA:352675 | X-linked Charcot-Marie-Tooth disease type 6 | HP:0040282 - Frequent | | | 4 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | PDYN CL E G H | 5173 | 8820 | OMIM:610245 | Spinocerebellar ataxia 23 | . | | | 52 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | PDYN CL E G H | 5173 | 8820 | ORPHA:101108 | Spinocerebellar ataxia type 23 | HP:0040282 - Frequent | | | 52 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | | | | 75 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | PEX6 CL E G H | 5190 | 8859 | ORPHA:95433 | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | PMP2 CL E G H | 5375 | 9117 | OMIM:618279 | Charcot-Marie-Tooth disease, demyelinating, type 1G | | | | 1 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | HP:0040282 - Frequent | | | 79 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | PMP22 CL E G H | 5376 | 9118 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 79 | | |
HP:0010831 | HP:0006944 | Abolished vibration sense | 2 | PNPT1 CL E G H | 87178 | 23166 | OMIM:608703 | Spinocerebellar ataxia 25 | . | | | 60 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | . | | | 464 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 464 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | POLR3B CL E G H | 55703 | 30348 | OMIM:619742 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I | | | | 67 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | PRKCG CL E G H | 5582 | 9402 | OMIM:605361 | Spinocerebellar ataxia 14 | | | | 83 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | PRKCG CL E G H | 5582 | 9402 | OMIM:605361 | Spinocerebellar ataxia 14 | | | | 83 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | PRX CL E G H | 57716 | 13797 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 170 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | REEP2 CL E G H | 51308 | 17975 | ORPHA:401849 | Autosomal spastic paraplegia type 72 | | | | 3 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | REEP2 CL E G H | 51308 | 17975 | ORPHA:401849 | Autosomal spastic paraplegia type 72 | | | | 3 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | RTN2 CL E G H | 6253 | 10468 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | HP:0040282 - Frequent | | | 25 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | RTN2 CL E G H | 6253 | 10468 | OMIM:604805 | Spastic paraplegia 12, autosomal dominant | . | | | 25 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | | | | 309 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | SAMD9L CL E G H | 219285 | 1349 | OMIM:159550 | Ataxia-Pancytopenia syndrome | . | | | 4 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | SCO2 CL E G H | 9997 | 10604 | ORPHA:521411 | Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect | HP:0040282 - Frequent | | | 40 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | | | | 162 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | HP:0040282 - Frequent | | | 493 | | |
HP:0010831 | HP:0006944 | Abolished vibration sense | 2 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | SLC33A1 CL E G H | 9197 | 95 | ORPHA:171863 | Autosomal dominant spastic paraplegia type 42 | HP:0040282 - Frequent | | | 48 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | SPAST CL E G H | 6683 | 11233 | ORPHA:100985 | Autosomal dominant spastic paraplegia type 4 | | | | 208 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | SPAST CL E G H | 6683 | 11233 | ORPHA:100985 | Autosomal dominant spastic paraplegia type 4 | | | | 208 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | SPAST CL E G H | 6683 | 11233 | OMIM:182601 | Spastic paraplegia 4, autosomal dominant | . | | | 208 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | . | | | 287 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | SPG7 CL E G H | 6687 | 11237 | OMIM:607259 | Spastic paraplegia 7, autosomal recessive | | | | 171 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | SPG7 CL E G H | 6687 | 11237 | ORPHA:99013 | Spastic paraplegia type 7 | HP:0040282 - Frequent | | | 171 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | SPTLC2 CL E G H | 9517 | 11278 | OMIM:613640 | Neuropathy, hereditary sensory and autonomic, type IC | | | | 149 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | TDP1 CL E G H | 55775 | 18884 | ORPHA:94124 | Spinocerebellar ataxia with axonal neuropathy type 1 | HP:0040282 - Frequent | | | 52 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 113 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | UBAP1 CL E G H | 51271 | 12461 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | HP:0040282 - Frequent | | | | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | | | | 21 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | | | | 21 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:251282 | Autosomal dominant spastic ataxia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0010831 | HP:0006944 | Abolished vibration sense | 2 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | HP:0040283 - Occasional | | | 63 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | HP:0040283 - Occasional | | | 63 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | HP:0040282 - Frequent | | | 63 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:100989 | Autosomal dominant spastic paraplegia type 8 | HP:0040282 - Frequent | | | 83 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | WASHC5 CL E G H | 9897 | 28984 | OMIM:603563 | Spastic paraplegia 8, autosomal dominant | . | | | 83 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | WDR48 CL E G H | 57599 | 30914 | ORPHA:401800 | Autosomal recessive spastic paraplegia type 60 | HP:0040282 - Frequent | | | 1 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | XK CL E G H | 7504 | 12811 | OMIM:300842 | Mcleod syndrome | | | | 8 | | |
HP:0010831 | HP:0002166 | Impaired vibration sensation in the lower limbs | 2 | XK CL E G H | 7504 | 12811 | OMIM:300842 | Mcleod syndrome | | | | 8 | | |
HP:0010831 | HP:0006886 | Impaired distal vibration sensation | 2 | XRCC1 CL E G H | 7515 | 12828 | OMIM:617633 | Spinocerebellar ataxia, autosomal recessive 26 | | | | 4 | | |
HP:0010831 | HP:0006938 | Impaired vibration sensation at ankles | 3 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | | | | 135 | | |
HP:0010831 | HP:0006938 | Impaired vibration sensation at ankles | 3 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447760 | Autosomal recessive spastic paraplegia type 9B | HP:0040283 - Occasional | | | 89 | | |
HP:0010831 | HP:0006938 | Impaired vibration sensation at ankles | 3 | AMPD2 CL E G H | 271 | 469 | OMIM:615686 | Spastic paraplegia 63, autosomal recessive | | | | 21 | | |
HP:0010831 | HP:0006938 | Impaired vibration sensation at ankles | 3 | B4GALNT1 CL E G H | 2583 | 4117 | ORPHA:101006 | Autosomal recessive spastic paraplegia type 26 | HP:0040283 - Occasional | | | 25 | | |
HP:0010831 | HP:0006938 | Impaired vibration sensation at ankles | 3 | CACNA1G CL E G H | 8913 | 1394 | OMIM:616795 | Spinocerebellar ataxia 42 | | | | 32 | | |
HP:0010831 | HP:0006938 | Impaired vibration sensation at ankles | 3 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | HP:0040282 - Frequent | | | 32 | | |
HP:0010831 | HP:0006938 | Impaired vibration sensation at ankles | 3 | GBA2 CL E G H | 57704 | 18986 | ORPHA:320391 | Autosomal recessive spastic paraplegia type 46 | HP:0040283 - Occasional | | | 30 | | |
HP:0010831 | HP:0006938 | Impaired vibration sensation at ankles | 3 | KCND3 CL E G H | 3752 | 6239 | ORPHA:98772 | Spinocerebellar ataxia type 19/22 | HP:0040282 - Frequent | | | 35 | | |
HP:0010831 | HP:0006938 | Impaired vibration sensation at ankles | 3 | PRKCG CL E G H | 5582 | 9402 | OMIM:605361 | Spinocerebellar ataxia 14 | . | | | 83 | | |
HP:0010831 | HP:0006938 | Impaired vibration sensation at ankles | 3 | REEP2 CL E G H | 51308 | 17975 | ORPHA:401849 | Autosomal spastic paraplegia type 72 | HP:0040283 - Occasional | | | 3 | | |
HP:0010831 | HP:0006938 | Impaired vibration sensation at ankles | 3 | SPAST CL E G H | 6683 | 11233 | ORPHA:100985 | Autosomal dominant spastic paraplegia type 4 | HP:0040282 - Frequent | | | 208 | | |
HP:0010831 | HP:0006938 | Impaired vibration sensation at ankles | 3 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | | | | 21 | | |
HP:0010831 | HP:0006938 | Impaired vibration sensation at ankles | 3 | XK CL E G H | 7504 | 12811 | OMIM:300842 | Mcleod syndrome | | | | 8 | | |