Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0001260 | HP:0001260 | Dysarthria | 0 | A2ML1 CL E G H | 144568 | 648 | | | | ORPHA | 1 | | 1403 | 23336 | 610627 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | AAAS CL E G H | 8086 | 231550 | Glucocorticoid deficiency with achalasia | 231550 | C0271742 | OMIM | 1 | | 217 | 13666 | 605378 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 543 | 21022 | 612035 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ABCB7 CL E G H | 22 | 301310 | Anemia sideroblastic and spinocerebellar ataxia | 301310 | C1845028 | OMIM | 1 | | 299 | 48 | 300135 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ABHD12 CL E G H | 26090 | 612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 612674 | C2675204 | OMIM | 1 | | 529 | 15868 | 613599 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ADA2 CL E G H | 51816 | 182410 | Idiopathic livedo reticularis with systemic involvement | 182410 | C0282492 | OMIM | 1 | | 533 | 1839 | 607575 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 1122 | 225 | 146920 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 653 | 236 | 600293 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 653 | 236 | 600293 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ADPRHL2 CL E G H | 54936 | 618170 | NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES | 618170 | | OMIM | 1 | | | 21304 | 610624 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | AFG3L2 CL E G H | 10939 | 101109 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 480 | 315 | 604581 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 1 | | 480 | 315 | 604581 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ALDH18A1 CL E G H | 5832 | 447760 | | | | ORPHA | 1 | | 586 | 9722 | 138250 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 586 | 9722 | 138250 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 635 | 403 | 609523 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 947 | 443 | 606352 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ALS2 CL E G H | 57679 | 607225 | Infantile-onset ascending hereditary spastic paralysis | 607225 | C2931441 | OMIM | 1 | | 947 | 443 | 606352 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ALS2 CL E G H | 57679 | 300605 | Juvenile amyotrophic lateral sclerosis | | CN239582 | ORPHA | 1 | | 947 | 443 | 606352 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | AMACR CL E G H | 23600 | 614307 | Alpha-methylacyl-CoA racemase deficiency | 614307 | C3280428 | OMIM | 1 | | 392 | 451 | 604489 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ANO10 CL E G H | 55129 | 284289 | | | | ORPHA | 1 | | 270 | 25519 | 613726 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ANO10 CL E G H | 55129 | 613728 | Spinocerebellar ataxia, autosomal recessive 10 | 613728 | C3150998 | OMIM | 1 | | 270 | 25519 | 613726 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | AP4B1 CL E G H | 10717 | 614066 | Spastic paraplegia 47, autosomal recessive | 614066 | C3279738 | OMIM | 1 | | 403 | 572 | 607245 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 331 | 15984 | 606350 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | AR CL E G H | 367 | 481 | | | | ORPHA | 1 | | 649 | 644 | 313700 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | AR CL E G H | 367 | 313200 | Bulbo-spinal atrophy X-linked | 313200 | C1839259 | OMIM | 1 | | 649 | 644 | 313700 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ARSA CL E G H | 410 | 309271 | | | | ORPHA | 1 | | 1140 | 713 | 607574 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ARSA CL E G H | 410 | 309256 | | | | ORPHA | 1 | | 1140 | 713 | 607574 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ARSA CL E G H | 410 | 309263 | | | | ORPHA | 1 | | 1140 | 713 | 607574 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 1140 | 713 | 607574 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ARX CL E G H | 170302 | 309510 | Partington X-linked mental retardation syndrome | 309510 | C0796250 | OMIM | 1 | | 810 | 18060 | 300382 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATCAY CL E G H | 85300 | 94122 | | | | ORPHA | 1 | | 209 | 779 | 608179 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATCAY CL E G H | 85300 | 601238 | Cerebellar ataxia, Cayman type | 601238 | C1832585 | OMIM | 1 | | 209 | 779 | 608179 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATM CL E G H | 472 | 100 | | | | ORPHA | 1 | | 14692 | 795 | 607585 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 213 | 3033 | 607462 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATP13A2 CL E G H | 23400 | 513436 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATP13A2 CL E G H | 23400 | 617225 | Spastic paraplegia 78, autosomal recessive | 617225 | C4310662 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATP1A2 CL E G H | 477 | 602481 | Familial hemiplegic migraine type 2 | 602481 | C1865322 | OMIM | 1 | | 1117 | 800 | 182340 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATP1A3 CL E G H | 478 | 71517 | | | | ORPHA | 1 | | 993 | 801 | 182350 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATP1A3 CL E G H | 478 | 601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss | 601338 | C1832466 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATP1A3 CL E G H | 478 | 128235 | Dystonia 12 | 128235 | C1868681 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATP2B3 CL E G H | 492 | 302500 | Spinocerebellar ataxia, X-linked 1 | 302500 | C0796205 | OMIM | 1 | | 352 | 816 | 300014 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATP7B CL E G H | 540 | 905 | | | | ORPHA | 1 | | 2303 | 870 | 606882 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 2303 | 870 | 606882 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATP8A2 CL E G H | 51761 | 615268 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | 615268 | C3808977 | OMIM | 1 | | 444 | 13533 | 605870 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATXN1 CL E G H | 6310 | 98755 | | | | ORPHA | 1 | | 120 | 10548 | 601556 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 120 | 10548 | 601556 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATXN10 CL E G H | 25814 | 98761 | | | | ORPHA | 1 | | 116 | 10549 | 611150 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 116 | 10549 | 611150 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 115 | 10555 | 601517 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATXN3 CL E G H | 4287 | 276238 | | | | ORPHA | 1 | | 65 | 7106 | 607047 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATXN3 CL E G H | 4287 | 276241 | | | | ORPHA | 1 | | 65 | 7106 | 607047 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATXN3 CL E G H | 4287 | 276244 | | | | ORPHA | 1 | | 65 | 7106 | 607047 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 98 | 10560 | 607640 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATXN8 CL E G H | 724066 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 2 | 32925 | 613289 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATXN8OS CL E G H | 6315 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 87 | 10561 | 603680 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | AUH CL E G H | 549 | 250950 | 3-Methylglutaconic aciduria type 1 | 250950 | C0342727 | OMIM | 1 | | 249 | 890 | 600529 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 295 | 4117 | 601873 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | BEAN1 CL E G H | 146227 | 217012 | | | | ORPHA | 1 | | 56 | 24160 | 612051 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | BEAN1 CL E G H | 146227 | 117210 | Spinocerebellar ataxia 31 | 117210 | C1861736 | OMIM | 1 | | 56 | 24160 | 612051 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 656 | 1052 | 601248 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | BRAF CL E G H | 673 | 648 | | | | ORPHA | 1 | | 1182 | 1097 | 164757 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | C12orf65 CL E G H | 91574 | 613559 | Combined oxidative phosphorylation deficiency 7 | 613559 | C3150801 | OMIM | 1 | | | 26784 | 613541 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 307 | 25443 | 614297 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | C19orf12 CL E G H | 83636 | 615043 | Spastic paraplegia 43, autosomal recessive | 615043 | C2680446 | OMIM | 1 | | 307 | 25443 | 614297 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | C9orf72 CL E G H | 203228 | 105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | 105550 | C1862937 | OMIM | 1 | | 177 | 28337 | 614260 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CA8 CL E G H | 767 | 613227 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 | 613227 | C2750509 | OMIM | 1 | | 94 | 1382 | 114815 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CACNA1A CL E G H | 773 | 97 | | | | ORPHA | 1 | | 3248 | 1388 | 601011 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CACNA1A CL E G H | 773 | 108500 | Episodic ataxia type 2 | 108500 | C1720416 | OMIM | 1 | | 3248 | 1388 | 601011 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CACNA1A CL E G H | 773 | 183086 | Spinocerebellar ataxia 6 | 183086 | C0752124 | OMIM | 1 | | 3248 | 1388 | 601011 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CACNA1G CL E G H | 8913 | 458803 | | | | ORPHA | 1 | | 822 | 1394 | 604065 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CACNB4 CL E G H | 785 | 211067 | | | | ORPHA | 1 | | 323 | 1404 | 601949 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CACNB4 CL E G H | 785 | 613855 | Episodic ataxia, type 5 | 613855 | C1866039 | OMIM | 1 | | 323 | 1404 | 601949 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CAMTA1 CL E G H | 23261 | 314647 | | | | ORPHA | 1 | | 550 | 18806 | 611501 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CAMTA1 CL E G H | 23261 | 614756 | Cerebellar ataxia, nonprogressive, with mental retardation | 614756 | C3553661 | OMIM | 1 | | 550 | 18806 | 611501 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CAPN1 CL E G H | 823 | 488594 | | | | ORPHA | 1 | | 248 | 1476 | 114220 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CCDC88C CL E G H | 440193 | 423275 | | | | ORPHA | 1 | | 586 | 19967 | 611204 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CCDC88C CL E G H | 440193 | 616053 | Spinocerebellar ataxia 40 | 616053 | CN252333 | OMIM | 1 | | 586 | 19967 | 611204 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CHCHD10 CL E G H | 400916 | 615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 | C4014648 | OMIM | 1 | | 297 | 15559 | 615903 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CHD3 CL E G H | 1107 | 618205 | SNIJDERS BLOK-CAMPEAU SYNDROME | 618205 | | OMIM | 1 | | 378 | 1918 | 602120 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 160 | 24537 | 609512 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CHRNA1 CL E G H | 1134 | 608930 | Congenital myasthenic syndrome 1B, fast-channel | 608930 | C1837122 | OMIM | 1 | | 468 | 1955 | 100690 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CHRNA1 CL E G H | 1134 | 601462 | Myasthenic syndrome, slow-channel congenital | 601462 | C0751885 | OMIM | 1 | | 468 | 1955 | 100690 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CHRNE CL E G H | 1145 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 1011 | 1966 | 100725 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 1 | | 71 | 24212 | 611507 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 1015 | 2074 | 607042 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | COASY CL E G H | 80347 | 397725 | | | | ORPHA | 1 | | 281 | 29932 | 609855 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 281 | 29932 | 609855 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | COLQ CL E G H | 8292 | 603034 | Endplate acetylcholinesterase deficiency | 603034 | C1864233 | OMIM | 1 | | 542 | 2226 | 603033 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | COQ2 CL E G H | 27235 | 227510 | | | | ORPHA | 1 | | 346 | 25223 | 609825 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | COX15 CL E G H | 1355 | 255241 | | | | ORPHA | 1 | | 357 | 2263 | 603646 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CSTB CL E G H | 1476 | 308 | | | | ORPHA | 1 | | 261 | 2482 | 601145 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 218 | 2531 | 603539 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CWF19L1 CL E G H | 55280 | 453521 | | | | ORPHA | 1 | | 100 | 25613 | 616120 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CWF19L1 CL E G H | 55280 | 616127 | Spinocerebellar ataxia, autosomal recessive 17 | 616127 | C4015301 | OMIM | 1 | | 100 | 25613 | 616120 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CYP7B1 CL E G H | 9420 | 270800 | Spastic paraplegia 5A | 270800 | C1849115 | OMIM | 1 | | 415 | 2652 | 603711 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | DAB1 CL E G H | 1600 | 615945 | Spinocerebellar ataxia 37 | 615945 | C3889636 | OMIM | 1 | | 107 | 2661 | 603448 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | DCAF17 CL E G H | 80067 | 3464 | | | | ORPHA | 1 | | 366 | 25784 | 612515 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | DCAF17 CL E G H | 80067 | 241080 | Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities | 241080 | C0342286 | OMIM | 1 | | 366 | 25784 | 612515 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | DCTN1 CL E G H | 1639 | 168605 | Perry syndrome | 168605 | C1868594 | OMIM | 1 | | 1084 | 2711 | 601143 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | DCX CL E G H | 1641 | 300067 | Lissencephaly, X-linked | 300067 | C1848199 | OMIM | 1 | | 423 | 2714 | 300121 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | DDHD2 CL E G H | 23259 | 320380 | | | | ORPHA | 1 | | 341 | 29106 | 615003 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | DDHD2 CL E G H | 23259 | 615033 | Spastic paraplegia 54, autosomal recessive | 615033 | C3539495 | OMIM | 1 | | 341 | 29106 | 615003 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | DMXL2 CL E G H | 23312 | 616113 | Polyendocrine-polyneuropathy syndrome | 616113 | C4015261 | OMIM | 1 | | 1216 | 2938 | 612186 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | DNAJB6 CL E G H | 10049 | 34516 | | | | ORPHA | 1 | | 487 | 14888 | 611332 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | DNAJC6 CL E G H | 9829 | 615528 | Parkinson disease 19a, juvenile-onset | 615528 | C3809811 | OMIM | 1 | | 310 | 15469 | 608375 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | EBF3 CL E G H | 253738 | 617330 | Hypotonia, ataxia, and delayed development syndrome | 617330 | C4310618 | OMIM | 1 | | 288 | 19087 | 607407 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ECHS1 CL E G H | 1892 | 255241 | | | | ORPHA | 1 | | 431 | 3151 | 602292 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | EEF2 CL E G H | 1938 | 101112 | | | | ORPHA | 1 | | 319 | 3214 | 130610 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | EEF2 CL E G H | 1938 | 609306 | Spinocerebellar ataxia 26 | 609306 | C1836395 | OMIM | 1 | | 319 | 3214 | 130610 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | EIF2B1 CL E G H | 1967 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 192 | 3257 | 606686 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | EIF2B2 CL E G H | 8892 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 190 | 3258 | 606454 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | EIF2B3 CL E G H | 8891 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 181 | 3259 | 606273 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | EIF2B4 CL E G H | 8890 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 233 | 3260 | 606687 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | EIF2B5 CL E G H | 8893 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 579 | 3261 | 603945 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ELOVL4 CL E G H | 6785 | 1955 | | | | ORPHA | 1 | | 297 | 14415 | 605512 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ELOVL4 CL E G H | 6785 | 133190 | Erythrokeratodermia with ataxia | 133190 | C1851481 | OMIM | 1 | | 297 | 14415 | 605512 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ELOVL5 CL E G H | 60481 | 423296 | | | | ORPHA | 1 | | 105 | 21308 | 611805 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ELOVL5 CL E G H | 60481 | 615957 | Spinocerebellar ataxia 38 | 615957 | C4014812 | OMIM | 1 | | 105 | 21308 | 611805 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ENTPD1 CL E G H | 953 | 401810 | | | | ORPHA | 1 | | 199 | 3363 | 601752 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ENTPD1 CL E G H | 953 | 615683 | Spastic paraplegia 64, autosomal recessive | 615683 | C3810289 | OMIM | 1 | | 199 | 3363 | 601752 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 523 | 3435 | 133510 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 726 | 3436 | 133520 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | | 484 | 3439 | 609412 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ERLIN1 CL E G H | 10613 | 401785 | | | | ORPHA | 1 | | 136 | 16947 | 611604 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | EZH2 CL E G H | 2146 | 277590 | Weaver syndrome | 277590 | C0265210 | OMIM | 1 | | 538 | 3527 | 601573 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | FA2H CL E G H | 79152 | 171629 | | | | ORPHA | 1 | | 381 | 21197 | 611026 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | FA2H CL E G H | 79152 | 612319 | Spastic paraplegia 35 | 612319 | C3668943 | OMIM | 1 | | 381 | 21197 | 611026 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | FAM126A CL E G H | 84668 | 610532 | Hypomyelination and Congenital Cataract | 610532 | C1864663 | OMIM | 1 | | | 24587 | 610531 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | FAT2 CL E G H | 2196 | 617769 | SPINOCEREBELLAR ATAXIA 45 | 617769 | C4540400 | OMIM | 1 | | 755 | 3596 | 604269 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | FBXO7 CL E G H | 25793 | 260300 | Parkinson disease 15 | 260300 | C1850100 | OMIM | 1 | | 243 | 13586 | 605648 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | FGF14 CL E G H | 2259 | 98764 | | | | ORPHA | 1 | | 251 | 3671 | 601515 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | FLRT1 CL E G H | 23769 | 320406 | | | | ORPHA | 1 | | 154 | 3760 | 604806 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 371 | 3775 | 309550 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 371 | 3775 | 309550 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | FOXRED1 CL E G H | 55572 | 255241 | | | | ORPHA | 1 | | 323 | 26927 | 613622 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | FTL CL E G H | 2512 | 606159 | Neuroferritinopathy | 606159 | C1853578 | OMIM | 1 | | 185 | 3999 | 134790 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | FUS CL E G H | 2521 | 300605 | Juvenile amyotrophic lateral sclerosis | | CN239582 | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 158 | 3951 | 606829 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 158 | 3951 | 606829 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 777 | 4137 | 605379 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | GBA2 CL E G H | 57704 | 614409 | Spastic paraplegia 46, autosomal recessive | 614409 | C2828721 | OMIM | 1 | | 355 | 18986 | 609471 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | GFPT1 CL E G H | 2673 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 524 | 4241 | 138292 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | GJA1 CL E G H | 2697 | 164200 | Oculodentodigital dysplasia | 164200 | C0812437 | OMIM | 1 | | 272 | 4274 | 121014 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 860 | 4283 | 304040 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | GJC2 CL E G H | 57165 | 320401 | | | | ORPHA | 1 | | 323 | 17494 | 608803 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 323 | 17494 | 608803 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | GJC2 CL E G H | 57165 | 613206 | Spastic paraplegia 44, autosomal recessive | 613206 | C2750784 | OMIM | 1 | | 323 | 17494 | 608803 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | GLRX5 CL E G H | 51218 | 616859 | Spasticity, childhood-onset, with hyperglycinemia | 616859 | C4225178 | OMIM | 1 | | 111 | 20134 | 609588 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | GNS CL E G H | 2799 | 252940 | Mucopolysaccharidosis, MPS-III-D | 252940 | C0086650 | OMIM | 1 | | 616 | 4422 | 607664 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | GOSR2 CL E G H | 9570 | 614018 | Epilepsy, progressive myoclonic 6 | 614018 | C3279627 | OMIM | 1 | | 320 | 4431 | 604027 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 527 | 4446 | 603048 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | GPT2 CL E G H | 84706 | 477673 | ANO5-Related Disorders | | CN239193 | ORPHA | 1 | | 109 | 18062 | 138210 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | GPT2 CL E G H | 84706 | 616281 | Mental retardation, autosomal recessive 49 | 616281 | C4225388 | OMIM | 1 | | 109 | 18062 | 138210 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | GRID2 CL E G H | 2895 | 616204 | Spinocerebellar ataxia, autosomal recessive 18 | 616204 | C4015505 | OMIM | 1 | | 241 | 4576 | 602368 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | GRM1 CL E G H | 2911 | 617691 | SPINOCEREBELLAR ATAXIA 44 | 617691 | C4521563 | OMIM | 1 | | 298 | 4593 | 604473 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | GRM1 CL E G H | 2911 | 614831 | Spinocerebellar ataxia, autosomal recessive 13 | 614831 | C3553816 | OMIM | 1 | | 298 | 4593 | 604473 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | GSS CL E G H | 2937 | 266130 | Gluthathione synthetase deficiency | 266130 | C0398746 | OMIM | 1 | | 211 | 4624 | 601002 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | HACE1 CL E G H | 57531 | 464282 | | | | ORPHA | 1 | | 227 | 21033 | 610876 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | HEPACAM CL E G H | 220296 | 613925 | Megalencephalic leukoencephalopathy with subcortical cysts 2a | 613925 | C3151355 | OMIM | 1 | | 304 | 26361 | 611642 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | HEXB CL E G H | 3074 | 268800 | Sandhoff disease | 268800 | C0036161 | OMIM | 1 | | 628 | 4879 | 606873 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | HOXB1 CL E G H | 3211 | 614744 | Hereditary congenital facial paresis 3 | 614744 | C3553625 | OMIM | 1 | | 44 | 5111 | 142968 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | HPCA CL E G H | 3208 | 99657 | | | | ORPHA | 1 | | 50 | 5144 | 142622 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | HPCA CL E G H | 3208 | 224500 | Dystonia 2, torsion, autosomal recessive | 224500 | C1857093 | OMIM | 1 | | 50 | 5144 | 142622 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | HPRT1 CL E G H | 3251 | 300322 | Lesch-Nyhan syndrome | 300322 | C0023374 | OMIM | 1 | | 354 | 5157 | 308000 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 256 | 4800 | 300256 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | HTRA1 CL E G H | 5654 | 600142 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | 600142 | C1838577 | OMIM | 1 | | 285 | 9476 | 602194 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | IFRD1 CL E G H | 3475 | 98771 | | | | ORPHA | 1 | | 69 | 5456 | 603502 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | INPP5K CL E G H | 51763 | 559 | | | | ORPHA | 1 | | 187 | 33882 | 607875 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | IRF2BPL CL E G H | 64207 | 618088 | NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES | 618088 | CN252701 | OMIM | 1 | | 312 | 14282 | 611720 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ITPR1 CL E G H | 3708 | 606658 | Spinocerebellar ataxia 15 | 606658 | C1847725 | OMIM | 1 | | 1563 | 6180 | 147265 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ITPR1 CL E G H | 3708 | 117360 | Spinocerebellar ataxia 29 | 117360 | C1861732 | OMIM | 1 | | 1563 | 6180 | 147265 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 176 | 14203 | 605268 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | KAT6B CL E G H | 23522 | 648 | | | | ORPHA | 1 | | 1003 | 17582 | 605880 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | KCNA1 CL E G H | 3736 | 37612 | | | | ORPHA | 1 | | 575 | 6218 | 176260 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | KCNA1 CL E G H | 3736 | 972 | | | | ORPHA | 1 | | 575 | 6218 | 176260 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | KCNA1 CL E G H | 3736 | 160120 | Episodic ataxia type 1 | 160120 | C1719788 | OMIM | 1 | | 575 | 6218 | 176260 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | KCNA4 CL E G H | 3739 | 618284 | 618284 | 618284 | | OMIM | 1 | | 54 | 6222 | 176266 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 1 | | 311 | 6235 | 176264 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | KCNC3 CL E G H | 3748 | 605259 | Spinocerebellar ataxia 13 | 605259 | C1854488 | OMIM | 1 | | 311 | 6235 | 176264 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 467 | 6239 | 605411 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | KCTD17 CL E G H | 79734 | 616398 | Dystonia 26, myoclonic | 616398 | C4225341 | OMIM | 1 | | 144 | 25705 | 616386 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | KCTD7 CL E G H | 154881 | 263516 | | | | ORPHA | 1 | | 427 | 21957 | 611725 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | KCTD7 CL E G H | 154881 | 611726 | Epilepsy, progressive myoclonic 3 | 611726 | C2673257 | OMIM | 1 | | 427 | 21957 | 611725 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | KIF1C CL E G H | 10749 | 397946 | | | | ORPHA | 1 | | 579 | 6317 | 603060 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | KIF1C CL E G H | 10749 | 611302 | Ataxia, spastic, 2, autosomal recessive | 611302 | C1969796 | OMIM | 1 | | 579 | 6317 | 603060 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | KLC2 CL E G H | 64837 | 320406 | | | | ORPHA | 1 | | 104 | 20716 | 611729 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | KLC2 CL E G H | 64837 | 609541 | Spastic paraplegia, optic atrophy, and neuropathy | 609541 | C1836010 | OMIM | 1 | | 104 | 20716 | 611729 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | KMT2B CL E G H | 9757 | 617284 | Dystonia 28, childhood-onset | 617284 | C4310633 | OMIM | 1 | | 1303 | 15840 | 606834 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | KRAS CL E G H | 3845 | 648 | | | | ORPHA | 1 | | 480 | 6407 | 190070 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | LIPT1 CL E G H | 51601 | 255241 | | | | ORPHA | 1 | | 124 | 29569 | 610284 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | LZTR1 CL E G H | 8216 | 648 | | | | ORPHA | 1 | | 2859 | 6742 | 600574 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MAN2B1 CL E G H | 4125 | 248500 | Deficiency of alpha-mannosidase | 248500 | C0024748 | OMIM | 1 | | 1351 | 6826 | 609458 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MATR3 CL E G H | 9782 | 600 | | | | ORPHA | 1 | | 450 | 6912 | 164015 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MATR3 CL E G H | 9782 | 606070 | Amyotrophic lateral sclerosis 21 | 606070 | C3807521 | OMIM | 1 | | 450 | 6912 | 164015 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 151 | 19691 | 608205 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MED13L CL E G H | 23389 | 616789 | Mental retardation and distinctive facial features with or without cardiac defects | 616789 | C4225208 | OMIM | 1 | | 1047 | 22962 | 608771 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MICOS13 CL E G H | 125988 | 67047 | | | | ORPHA | 1 | | 34 | 33702 | 616658 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | | 577 | 7154 | 120520 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 1 | | 577 | 7154 | 120520 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MMUT CL E G H | 4594 | 79312 | | | | ORPHA | 1 | | 896 | 7526 | 609058 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 1 | | 1911 | 7230 | 600814 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MRE11 CL E G H | 4361 | 604391 | Ataxia-telangiectasia-like disorder 1 | 604391 | C1858391 | OMIM | 1 | | 1911 | 7230 | 600814 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 1 | | | 7414 | 516060 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MTFMT CL E G H | 123263 | 255241 | | | | ORPHA | 1 | | 243 | 29666 | 611766 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MTPAP CL E G H | 55149 | 254343 | | | | ORPHA | 1 | | 346 | 25532 | 613669 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MTPAP CL E G H | 55149 | 613672 | Ataxia, spastic, 4, autosomal recessive | 613672 | C3150925 | OMIM | 1 | | 346 | 25532 | 613669 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MYOT CL E G H | 9499 | 98911 | | | | ORPHA | 1 | | 372 | 12399 | 604103 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NDUFA10 CL E G H | 4705 | 255241 | | | | ORPHA | 1 | | 421 | 7684 | 603835 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NDUFA12 CL E G H | 55967 | 255241 | | | | ORPHA | 1 | | 92 | 23987 | 614530 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NDUFA13 CL E G H | 51079 | 255241 | | | | ORPHA | 1 | | 65 | 17194 | 609435 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NDUFA2 CL E G H | 4695 | 255241 | | | | ORPHA | 1 | | 95 | 7685 | 602137 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NDUFA4 CL E G H | 4697 | 255241 | | | | ORPHA | 1 | | 96 | 7687 | 603833 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NDUFA9 CL E G H | 4704 | 255241 | | | | ORPHA | 1 | | 235 | 7693 | 603834 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NDUFA9 CL E G H | 4704 | 618247 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 | 618247 | | OMIM | 1 | | 235 | 7693 | 603834 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NDUFAF2 CL E G H | 91942 | 255241 | | | | ORPHA | 1 | | 132 | 28086 | 609653 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NDUFAF5 CL E G H | 79133 | 255241 | | | | ORPHA | 1 | | 383 | 15899 | 612360 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NDUFAF5 CL E G H | 79133 | 618238 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 | 618238 | | OMIM | 1 | | 383 | 15899 | 612360 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NDUFAF6 CL E G H | 137682 | 255241 | | | | ORPHA | 1 | | 281 | 28625 | 612392 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NDUFAF6 CL E G H | 137682 | 618239 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 | 618239 | | OMIM | 1 | | 281 | 28625 | 612392 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NDUFS1 CL E G H | 4719 | 255241 | | | | ORPHA | 1 | | 424 | 7707 | 157655 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NDUFS2 CL E G H | 4720 | 255241 | | | | ORPHA | 1 | | 247 | 7708 | 602985 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NDUFS3 CL E G H | 4722 | 255241 | | | | ORPHA | 1 | | 147 | 7710 | 603846 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NDUFS4 CL E G H | 4724 | 255241 | | | | ORPHA | 1 | | 139 | 7711 | 602694 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NDUFS7 CL E G H | 374291 | 255241 | | | | ORPHA | 1 | | 215 | 7714 | 601825 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NDUFS7 CL E G H | 374291 | 618224 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | 618224 | | OMIM | 1 | | 215 | 7714 | 601825 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NDUFS8 CL E G H | 4728 | 255241 | | | | ORPHA | 1 | | 129 | 7715 | 602141 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NDUFS8 CL E G H | 4728 | 618222 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 | 618222 | | OMIM | 1 | | 129 | 7715 | 602141 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NDUFV1 CL E G H | 4723 | 255241 | | | | ORPHA | 1 | | 315 | 7716 | 161015 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NDUFV2 CL E G H | 4729 | 255241 | | | | ORPHA | 1 | | 229 | 7717 | 600532 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NKX2-1 CL E G H | 7080 | 610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | 610978 | C1970269 | OMIM | 1 | | 317 | 11825 | 600635 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NKX6-2 CL E G H | 84504 | 527497 | | | | ORPHA | 1 | | 233 | 19321 | 605955 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NKX6-2 CL E G H | 84504 | 617560 | SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY | 617560 | C4479653 | OMIM | 1 | | 233 | 19321 | 605955 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NOP56 CL E G H | 10528 | 276198 | | | | ORPHA | 1 | | 67 | 15911 | 614154 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NPC1 CL E G H | 4864 | 257220 | Niemann-Pick disease type C1 | 257220 | C3179455 | OMIM | 1 | | 2109 | 7897 | 607623 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NPC2 CL E G H | 10577 | 607625 | Niemann-Pick disease type C2 | 607625 | C1843366 | OMIM | 1 | | 232 | 14537 | 601015 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 143 | 7981 | 601828 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NRAS CL E G H | 4893 | 648 | | | | ORPHA | 1 | | 281 | 7989 | 164790 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NSUN2 CL E G H | 54888 | 611091 | Mental retardation, autosomal recessive 5 | 611091 | C1970199 | OMIM | 1 | | 566 | 25994 | 610916 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NUBPL CL E G H | 80224 | 618242 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 | 618242 | | OMIM | 1 | | 284 | 20278 | 613621 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 1 | | 161 | 8066 | 605815 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | OPA3 CL E G H | 80207 | 67047 | | | | ORPHA | 1 | | 523 | 8142 | 606580 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | OPA3 CL E G H | 80207 | 258501 | 3-Methylglutaconic aciduria type 3 | 258501 | C0574084 | OMIM | 1 | | 523 | 8142 | 606580 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | OPTN CL E G H | 10133 | 613435 | Amyotrophic lateral sclerosis type 12 | 613435 | C3150692 | OMIM | 1 | | 428 | 17142 | 602432 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PABPN1 CL E G H | 8106 | 164300 | Oculopharyngeal muscular dystrophy | 164300 | C0270952 | OMIM | 1 | | 85 | 8565 | 602279 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PANK2 CL E G H | 80025 | 216866 | | | | ORPHA | 1 | | 499 | 15894 | 606157 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PANK2 CL E G H | 80025 | 216873 | | | | ORPHA | 1 | | 499 | 15894 | 606157 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PANK2 CL E G H | 80025 | 607236 | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 607236 | C1846582 | OMIM | 1 | | 499 | 15894 | 606157 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 499 | 15894 | 606157 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PCNA CL E G H | 5111 | 615919 | Ataxia-telangiectasia-like disorder 2 | 615919 | C4014676 | OMIM | 1 | | 48 | 8729 | 176740 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PDE10A CL E G H | 10846 | 494526 | | | | ORPHA | 1 | | 222 | 8772 | 610652 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PDE10A CL E G H | 10846 | 616921 | Dyskinesia, limb and orofacial, infantile-onset | 616921 | C4310792 | OMIM | 1 | | 222 | 8772 | 610652 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PDE8B CL E G H | 8622 | 228169 | Autosomal dominant striatal neurodegeneration | | C1836694 | ORPHA | 1 | | 243 | 8794 | 603390 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PDE8B CL E G H | 8622 | 609161 | Striatal degeneration, autosomal dominant 1 | 609161 | C4310808 | OMIM | 1 | | 243 | 8794 | 603390 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PDGFB CL E G H | 5155 | 615483 | Idiopathic basal ganglia calcification 5 | 615483 | C3809645 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 531 | 8804 | 173410 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PDHA1 CL E G H | 5160 | 255241 | | | | ORPHA | 1 | | 679 | 8806 | 300502 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PDYN CL E G H | 5173 | 101108 | | | | ORPHA | 1 | | 200 | 8820 | 131340 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PDYN CL E G H | 5173 | 610245 | Spinocerebellar ataxia 23 | 610245 | C1853250 | OMIM | 1 | | 200 | 8820 | 131340 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PET100 CL E G H | 100131801 | 255241 | | | | ORPHA | 1 | | 76 | 40038 | 614770 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PEX10 CL E G H | 5192 | 247815 | | | | ORPHA | 1 | | 803 | 8851 | 602859 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PEX10 CL E G H | 5192 | 614871 | Peroxisome biogenesis disorder 6B | 614871 | C3553948 | OMIM | 1 | | 803 | 8851 | 602859 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PEX16 CL E G H | 9409 | 614877 | Peroxisome biogenesis disorder 8B | 614877 | C3553960 | OMIM | 1 | | 470 | 8857 | 603360 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PEX2 CL E G H | 5828 | 614867 | Peroxisome biogenesis disorder 5B | 614867 | C3542026 | OMIM | 1 | | 463 | 9717 | 170993 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PFN1 CL E G H | 5216 | 614808 | Amyotrophic lateral sclerosis 18 | 614808 | C3553719 | OMIM | 1 | | 101 | 8881 | 176610 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PGM3 CL E G H | 5238 | 615816 | Immunodeficiency 23 | 615816 | C4014371 | OMIM | 1 | | 359 | 8907 | 172100 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PIK3R5 CL E G H | 23533 | 615217 | Ataxia-oculomotor apraxia 3 | 615217 | C3554690 | OMIM | 1 | | 90 | 30035 | 611317 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 1 | | 775 | 9039 | 603604 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PLA2G6 CL E G H | 8398 | 612953 | Parkinson disease 14 | 612953 | C2751842 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PLD3 CL E G H | 23646 | 617770 | SPINOCEREBELLAR ATAXIA 46 | 617770 | C4540404 | OMIM | 1 | | 110 | 17158 | 615698 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PLEKHG4 CL E G H | 25894 | 98765 | | | | ORPHA | 1 | | 97 | 24501 | 609526 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PLP1 CL E G H | 5354 | 312080 | Pelizaeus-Merzbacher disease | 312080 | C0205711 | OMIM | 1 | | 451 | 9086 | 300401 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PLP1 CL E G H | 5354 | 312920 | Spastic paraplegia 2 | 312920 | C1839264 | OMIM | 1 | | 451 | 9086 | 300401 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PMPCA CL E G H | 23203 | 213200 | Spinocerebellar ataxia, autosomal recessive 2 | 213200 | C1859298 | OMIM | 1 | | 205 | 18667 | 613036 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PNKD CL E G H | 25953 | 118800 | Paroxysmal nonkinesigenic dyskinesia 1 | 118800 | | OMIM | 1 | | 521 | 9153 | 609023 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PNPLA8 CL E G H | 50640 | 251950 | Mitochondrial myopathy with lactic acidosis | 251950 | C1855033 | OMIM | 1 | | 271 | 28900 | 612123 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | POLR3A CL E G H | 11128 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 1025 | 30074 | 614258 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | POLR3B CL E G H | 55703 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 510 | 30348 | 614366 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | POLR3B CL E G H | 55703 | 614381 | Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism | 614381 | C3280644 | OMIM | 1 | | 510 | 30348 | 614366 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PPP1R15B CL E G H | 84919 | 616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | 616817 | C4225195 | OMIM | 1 | | 134 | 14951 | 613257 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PPP2R2B CL E G H | 5521 | 604326 | Spinocerebellar ataxia 12 | 604326 | C1858501 | OMIM | 1 | | 71 | 9305 | 604325 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 1 | | 439 | 13993 | 616639 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 439 | 13993 | 616639 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PRICKLE1 CL E G H | 144165 | 308 | | | | ORPHA | 1 | | 570 | 17019 | 608500 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PRICKLE1 CL E G H | 144165 | 612437 | Progressive myoclonus epilepsy with ataxia | 612437 | C2676254 | OMIM | 1 | | 570 | 17019 | 608500 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PRKCG CL E G H | 5582 | 605361 | Spinocerebellar ataxia 14 | 605361 | C1854369 | OMIM | 1 | | 323 | 9402 | 176980 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PRKRA CL E G H | 8575 | 210571 | | | | ORPHA | 1 | | 192 | 9438 | 603424 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PRNP CL E G H | 5621 | 603218 | Huntington disease-like 1 | 603218 | C1864112 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PSAP CL E G H | 5660 | 309271 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PSAP CL E G H | 5660 | 309256 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PSAP CL E G H | 5660 | 309263 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PTPN11 CL E G H | 5781 | 648 | | | | ORPHA | 1 | | 854 | 9644 | 176876 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PUM1 CL E G H | 9698 | 617931 | SPINOCEREBELLAR ATAXIA 47 | 617931 | CN244564 | OMIM | 1 | | 175 | 14957 | 607204 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | RAB39B CL E G H | 116442 | 311510 | Parkinsonism, early onset with mental retardation | 311510 | C0796195 | OMIM | 1 | | 320 | 16499 | 300774 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | RAF1 CL E G H | 5894 | 648 | | | | ORPHA | 1 | | 990 | 9829 | 164760 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | RAI1 CL E G H | 10743 | 1713 | | | | ORPHA | 1 | | 1608 | 9834 | 607642 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | RANBP2 CL E G H | 5903 | 88619 | | | | ORPHA | 1 | | 1372 | 9848 | 601181 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | RARS CL E G H | 5917 | 616140 | Leukodystrophy, hypomyelinating, 9 | 616140 | C4015323 | OMIM | 1 | | | 9870 | 107820 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | RASA2 CL E G H | 5922 | 648 | | | | ORPHA | 1 | | 533 | 9872 | 601589 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | REEP1 CL E G H | 65055 | 610250 | Spastic paraplegia 31, autosomal dominant | 610250 | C1853247 | OMIM | 1 | | 434 | 25786 | 609139 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | REPS1 CL E G H | 85021 | 617916 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 | 617916 | CN895590 | OMIM | 1 | | 156 | 15578 | 614825 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | RERE CL E G H | 473 | 616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 616975 | C4310772 | OMIM | 1 | | 659 | 9965 | 605226 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | RIT1 CL E G H | 6016 | 648 | | | | ORPHA | 1 | | 269 | 10023 | 609591 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | RNASEH1 CL E G H | 246243 | 329336 | | | | ORPHA | 1 | | 189 | 18466 | 604123 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | RNASEH1 CL E G H | 246243 | 616479 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | 616479 | C4225312 | OMIM | 1 | | 189 | 18466 | 604123 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | RNF216 CL E G H | 54476 | 212840 | Gordon Holmes syndrome | 212840 | C1859305 | OMIM | 1 | | 297 | 21698 | 609948 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | RNU12 CL E G H | 267010 | 512260 | | | | ORPHA | 1 | | 17 | 19380 | 0 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | RPIA CL E G H | 22934 | 608611 | Deficiency of ribose-5-phosphate isomerase | 608611 | C1291609 | OMIM | 1 | | 112 | 10297 | 180430 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | RRAS CL E G H | 6237 | 648 | | | | ORPHA | 1 | | 260 | 10447 | 165090 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | RRM2B CL E G H | 50484 | 329336 | | | | ORPHA | 1 | | 354 | 17296 | 604712 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | RRM2B CL E G H | 50484 | 613077 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | 613077 | C2751319 | OMIM | 1 | | 354 | 17296 | 604712 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | RUBCN CL E G H | 9711 | 404499 | | | | ORPHA | 1 | | 162 | 28991 | 613516 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | RUBCN CL E G H | 9711 | 615705 | Spinocerebellar ataxia, autosomal recessive 15 | 615705 | C3810326 | OMIM | 1 | | 162 | 28991 | 613516 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SACS CL E G H | 26278 | 98 | | | | ORPHA | 1 | | 3377 | 10519 | 604490 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SACS CL E G H | 26278 | 270550 | Spastic ataxia Charlevoix-Saguenay type | 270550 | C1849140 | OMIM | 1 | | 3377 | 10519 | 604490 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SAMD9L CL E G H | 219285 | 159550 | Myelocerebellar disorder | 159550 | C1327919 | OMIM | 1 | | 713 | 1349 | 611170 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SCARB2 CL E G H | 950 | 308 | | | | ORPHA | 1 | | 474 | 1665 | 602257 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SCARB2 CL E G H | 950 | 254900 | Epilepsy, progressive myoclonic 4, with or without renal failure | 254900 | C0751779 | OMIM | 1 | | 474 | 1665 | 602257 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SCO2 CL E G H | 9997 | 521411 | | | | ORPHA | 1 | | 701 | 10604 | 604272 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SDHA CL E G H | 6389 | 255241 | | | | ORPHA | 1 | | 2503 | 10680 | 600857 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SDHA CL E G H | 6389 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SIGMAR1 CL E G H | 10280 | 300605 | Juvenile amyotrophic lateral sclerosis | | CN239582 | ORPHA | 1 | | 247 | 8157 | 601978 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SIL1 CL E G H | 64374 | 559 | | | | ORPHA | 1 | | 352 | 24624 | 608005 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SIL1 CL E G H | 64374 | 248800 | Marinesco-Sjögren syndrome | 248800 | C0024814 | OMIM | 1 | | 352 | 24624 | 608005 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SLC16A2 CL E G H | 6567 | 300523 | Allan-Herndon-Dudley syndrome | 300523 | C0795889 | OMIM | 1 | | 427 | 10923 | 300095 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SLC17A5 CL E G H | 26503 | 604369 | Salla disease | 604369 | C1096903 | OMIM | 1 | | 520 | 10933 | 604322 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SLC18A2 CL E G H | 6571 | 352649 | | | | ORPHA | 1 | | 183 | 10935 | 193001 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SLC18A2 CL E G H | 6571 | 618049 | PARKINSONISM-DYSTONIA, INFANTILE, 2 | 618049 | CN248785 | OMIM | 1 | | 183 | 10935 | 193001 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SLC19A3 CL E G H | 80704 | 255241 | | | | ORPHA | 1 | | 563 | 16266 | 606152 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SLC1A3 CL E G H | 6507 | 612656 | Episodic ataxia, type 6 | 612656 | C2675211 | OMIM | 1 | | 266 | 10941 | 600111 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 337 | 10947 | 158378 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SLC2A1 CL E G H | 6513 | 53583 | | | | ORPHA | 1 | | 965 | 11005 | 138140 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 1 | | 965 | 11005 | 138140 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SLC2A1 CL E G H | 6513 | 601042 | Dystonia 9 | 601042 | C1832855 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SLC2A1 CL E G H | 6513 | 606777 | GLUT1 deficiency syndrome 1 | 606777 | CN030711 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 275 | 25355 | 611146 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 275 | 25355 | 611146 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 125 | 11021 | 605634 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 520 | 30224 | 607882 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 464 | 16187 | 613350 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 1 | | 809 | 11042 | 137165 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SLC9A1 CL E G H | 6548 | 616291 | Lichtenstein-knorr syndrome | 616291 | C4225383 | OMIM | 1 | | 162 | 11071 | 107310 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SMS CL E G H | 6611 | 309583 | Snyder Robinson syndrome | 309583 | C0796160 | OMIM | 1 | | 294 | 11123 | 300105 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SNAP25 CL E G H | 6616 | 616330 | Myasthenic syndrome, congenital, 18 | 616330 | C4225364 | OMIM | 1 | | 218 | 11132 | 600322 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 160 | 11139 | 603779 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SOS1 CL E G H | 6654 | 648 | | | | ORPHA | 1 | | 1503 | 11187 | 182530 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SOS2 CL E G H | 6655 | 648 | | | | ORPHA | 1 | | 1250 | 11188 | 601247 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SPART CL E G H | 23111 | 275900 | Troyer syndrome | 275900 | C0393559 | OMIM | 1 | | 353 | 18514 | 607111 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SPG11 CL E G H | 80208 | 602099 | Amyotrophic lateral sclerosis type 5 | 602099 | C1865864 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SPG11 CL E G H | 80208 | 2822 | Hyperinsulinism, focal | | | ORPHA | 1 | | 2625 | 11226 | 610844 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SPG11 CL E G H | 80208 | 300605 | Juvenile amyotrophic lateral sclerosis | | CN239582 | ORPHA | 1 | | 2625 | 11226 | 610844 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SPG7 CL E G H | 6687 | 607259 | Spastic paraplegia 7 | 607259 | C1846564 | OMIM | 1 | | 966 | 11237 | 602783 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SPR CL E G H | 6697 | 612716 | Sepiapterin reductase deficiency | 612716 | C0268468 | OMIM | 1 | | 198 | 11257 | 182125 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SPTBN2 CL E G H | 6712 | 352403 | | | | ORPHA | 1 | | 938 | 11276 | 604985 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SPTBN2 CL E G H | 6712 | 600224 | Spinocerebellar ataxia 5 | 600224 | C0752123 | OMIM | 1 | | 938 | 11276 | 604985 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SQSTM1 CL E G H | 8878 | 616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 616437 | C4225326 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SQSTM1 CL E G H | 8878 | 617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 | C4310693 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | STUB1 CL E G H | 10273 | 412057 | | | | ORPHA | 1 | | 226 | 11427 | 607207 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | STUB1 CL E G H | 10273 | 618093 | SPINOCEREBELLAR ATAXIA 48 | 618093 | | OMIM | 1 | | 226 | 11427 | 607207 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | STUB1 CL E G H | 10273 | 615768 | Spinocerebellar ataxia, autosomal recessive 16 | 615768 | C4014261 | OMIM | 1 | | 226 | 11427 | 607207 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SUFU CL E G H | 51684 | 617757 | JOUBERT SYNDROME 32 | 617757 | C4540342 | OMIM | 1 | | 1306 | 16466 | 607035 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SURF1 CL E G H | 6834 | 255241 | | | | ORPHA | 1 | | 532 | 11474 | 185620 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SURF1 CL E G H | 6834 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 532 | 11474 | 185620 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SYNE1 CL E G H | 23345 | 610743 | Spinocerebellar ataxia, autosomal recessive 8 | 610743 | C1853116 | OMIM | 1 | | 5789 | 17089 | 608441 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 1 | | 1315 | 11503 | 604297 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SYT14 CL E G H | 255928 | 284271 | | | | ORPHA | 1 | | 104 | 23143 | 610949 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SYT14 CL E G H | 255928 | 614229 | Spinocerebellar ataxia, autosomal recessive 11 | 614229 | C3280226 | OMIM | 1 | | 104 | 23143 | 610949 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TACO1 CL E G H | 51204 | 255241 | | | | ORPHA | 1 | | 117 | 24316 | 612958 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TANGO2 CL E G H | 128989 | 616878 | TANGO2-Related Metabolic Encephalopathy and Arrhythmias | 616878 | C4225171 | OMIM | 1 | | 715 | 25439 | 616830 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TARDBP CL E G H | 23435 | 612069 | Amyotrophic lateral sclerosis type 10 | 612069 | C2677565 | OMIM | 1 | | 309 | 11571 | 605078 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TBC1D23 CL E G H | 55773 | 617695 | PONTOCEREBELLAR HYPOPLASIA, TYPE 11 | 617695 | C4540164 | OMIM | 1 | | 90 | 25622 | 617687 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TBC1D24 CL E G H | 57465 | 605021 | Myoclonic epilepsy, familial infantile | 605021 | C0917800 | OMIM | 1 | | 893 | 29203 | 613577 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TBCE CL E G H | 6905 | 496756 | | | | ORPHA | 1 | | 456 | 11582 | 604934 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TBCE CL E G H | 6905 | 617207 | Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 | C4310667 | OMIM | 1 | | 456 | 11582 | 604934 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TBK1 CL E G H | 29110 | 616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 616439 | C4225325 | OMIM | 1 | | 382 | 11584 | 604834 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TECPR2 CL E G H | 9895 | 320385 | | | | ORPHA | 1 | | 1137 | 19957 | 615000 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TECPR2 CL E G H | 9895 | 615031 | Spastic paraplegia 49, autosomal recessive | 615031 | C3542549 | OMIM | 1 | | 1137 | 19957 | 615000 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TGM6 CL E G H | 343641 | 613908 | Spinocerebellar ataxia 35 | 613908 | C3888031 | OMIM | 1 | | 393 | 16255 | 613900 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | THAP1 CL E G H | 55145 | 98806 | | | | ORPHA | 1 | | 206 | 20856 | 609520 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | THAP1 CL E G H | 55145 | 602629 | Dystonia 6, torsion | 602629 | C1414216 | OMIM | 1 | | 206 | 20856 | 609520 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TIMM8A CL E G H | 1678 | 304700 | Mohr-Tranebjaerg syndrome | 304700 | C0796074 | OMIM | 1 | | 227 | 11817 | 300356 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TK2 CL E G H | 7084 | 617069 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | 617069 | C4310734 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TMEM106B CL E G H | 54664 | 617964 | LEUKODYSTROPHY, HYPOMYELINATING, 16 | 617964 | CN244907 | OMIM | 1 | | 128 | 22407 | 613413 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TMEM240 CL E G H | 339453 | 98773 | | | | ORPHA | 1 | | 237 | 25186 | 616101 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TMEM240 CL E G H | 339453 | 607454 | Spinocerebellar ataxia 21 | 607454 | C1843891 | OMIM | 1 | | 237 | 25186 | 616101 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TOP3A CL E G H | 7156 | 618098 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 | 618098 | CN253818 | OMIM | 1 | | 390 | 11992 | 601243 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TOR1A CL E G H | 1861 | 128100 | Dystonia 1 | 128100 | C1851945 | OMIM | 1 | | 220 | 3098 | 605204 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TPP1 CL E G H | 1200 | 284324 | | | | ORPHA | 1 | | 1023 | 2073 | 607998 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TPP1 CL E G H | 1200 | 609270 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | 609270 | C1836474 | OMIM | 1 | | 1023 | 2073 | 607998 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TRAPPC11 CL E G H | 60684 | 615356 | Limb-girdle muscular dystrophy, type 2S | 615356 | C3809236 | OMIM | 1 | | 983 | 25751 | 614138 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TREX1 CL E G H | 11277 | 247691 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TREX1 CL E G H | 11277 | 192315 | Vasculopathy, retinal, with cerebral leukodystrophy | 192315 | C1860518 | OMIM | 1 | | 418 | 12269 | 606609 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TRIM37 CL E G H | 4591 | 253250 | Mulibrey nanism syndrome | 253250 | C0524582 | OMIM | 1 | | 374 | 7523 | 605073 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TTBK2 CL E G H | 146057 | 98767 | | | | ORPHA | 1 | | 338 | 19141 | 611695 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TTBK2 CL E G H | 146057 | 604432 | Spinocerebellar ataxia 11 | 604432 | C1858351 | OMIM | 1 | | 338 | 19141 | 611695 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TTC19 CL E G H | 54902 | 615157 | Mitochondrial complex III deficiency, nuclear type 2 | 615157 | C3554605 | OMIM | 1 | | 343 | 26006 | 613814 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 1 | | 389 | 12404 | 600415 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TTR CL E G H | 7276 | 105210 | Amyloidogenic transthyretin amyloidosis | 105210 | C2751492 | OMIM | 1 | | 377 | 12405 | 176300 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TUBB4A CL E G H | 10382 | 612438 | Leukodystrophy, hypomyelinating, 6 | 612438 | C2676244 | OMIM | 1 | | 272 | 20774 | 602662 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TWNK CL E G H | 56652 | 70595 | | | | ORPHA | 1 | | 450 | 1160 | 606075 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TWNK CL E G H | 56652 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | UBA5 CL E G H | 79876 | 617133 | Spinocerebellar ataxia, autosomal recessive 24 | 617133 | C4310699 | OMIM | 1 | | 223 | 23230 | 610552 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | UBQLN2 CL E G H | 29978 | 300857 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | 300857 | C3275459 | OMIM | 1 | | 273 | 12509 | 300264 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | UROC1 CL E G H | 131669 | 210128 | | | | ORPHA | 1 | | 122 | 26444 | 613012 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | VAMP1 CL E G H | 6843 | 108600 | Ataxia, spastic, 1, autosomal dominant | 108600 | C1970107 | OMIM | 1 | | 141 | 12642 | 185880 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 1 | | 359 | 12649 | 605704 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | VCP CL E G H | 7415 | 613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | 613954 | C3151403 | OMIM | 1 | | 607 | 12666 | 601023 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | VLDLR CL E G H | 7436 | 224050 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | 224050 | CN074243 | OMIM | 1 | | 575 | 12698 | 192977 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | VPS13A CL E G H | 23230 | 2388 | | | | ORPHA | 1 | | 2362 | 1908 | 605978 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | VPS13A CL E G H | 23230 | 200150 | Choreoacanthocytosis | 200150 | C0393576 | OMIM | 1 | | 2362 | 1908 | 605978 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | VWA3B CL E G H | 200403 | 616948 | Spinocerebellar ataxia, autosomal recessive 22 | 616948 | C4310781 | OMIM | 1 | | 126 | 28385 | 614884 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | WDR73 CL E G H | 84942 | 83472 | | | | ORPHA | 1 | | 220 | 25928 | 616144 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | WDR81 CL E G H | 124997 | 610185 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | 610185 | C2750234 | OMIM | 1 | | 420 | 26600 | 614218 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | WFS1 CL E G H | 7466 | 222300 | Diabetes mellitus AND insipidus with optic atrophy AND deafness | 222300 | C0043207 | OMIM | 1 | | 1634 | 12762 | 606201 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | WWOX CL E G H | 51741 | 284282 | | | | ORPHA | 1 | | 1102 | 12799 | 605131 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | WWOX CL E G H | 51741 | 614322 | Spinocerebellar ataxia, autosomal recessive 12 | 614322 | C3280452 | OMIM | 1 | | 1102 | 12799 | 605131 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | XK CL E G H | 7504 | 300842 | McLeod neuroacanthocytosis syndrome | 300842 | C0398568 | OMIM | 1 | | 218 | 12811 | 314850 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | XPR1 CL E G H | 9213 | 616413 | Basal ganglia calcification, idiopathic, 6 | 616413 | C4225335 | OMIM | 1 | | 234 | 12827 | 605237 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | XRCC1 CL E G H | 7515 | 617633 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 | 617633 | C4539948 | OMIM | 1 | | 82 | 12828 | 194360 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | XRCC4 CL E G H | 7518 | 616541 | Short stature, microcephaly, and endocrine dysfunction | 616541 | C4225288 | OMIM | 1 | | 129 | 12831 | 194363 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ZFYVE26 CL E G H | 23503 | 270700 | Spastic paraplegia 15 | 270700 | C1849128 | OMIM | 1 | | 2408 | 20761 | 612012 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ZNF592 CL E G H | 9640 | 83472 | | | | ORPHA | 1 | | 128 | 28986 | 613624 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | A2ML1 CL E G H | 144568 | 648 | | | | ORPHA | 1 | | 1403 | 23336 | 610627 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | A2ML1 CL E G H | 144568 | 648 | | | | ORPHA | 1 | | 1403 | 23336 | 610627 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | A2ML1 CL E G H | 144568 | 648 | | | | ORPHA | 1 | | 1403 | 23336 | 610627 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | AAAS CL E G H | 8086 | 231550 | Glucocorticoid deficiency with achalasia | 231550 | C0271742 | OMIM | 1 | | 217 | 13666 | 605378 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | AAAS CL E G H | 8086 | 231550 | Glucocorticoid deficiency with achalasia | 231550 | C0271742 | OMIM | 1 | | 217 | 13666 | 605378 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | AAAS CL E G H | 8086 | 231550 | Glucocorticoid deficiency with achalasia | 231550 | C0271742 | OMIM | 1 | | 217 | 13666 | 605378 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 543 | 21022 | 612035 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 543 | 21022 | 612035 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 543 | 21022 | 612035 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ABCB7 CL E G H | 22 | 301310 | Anemia sideroblastic and spinocerebellar ataxia | 301310 | C1845028 | OMIM | 1 | | 299 | 48 | 300135 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ABCB7 CL E G H | 22 | 301310 | Anemia sideroblastic and spinocerebellar ataxia | 301310 | C1845028 | OMIM | 1 | | 299 | 48 | 300135 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ABCB7 CL E G H | 22 | 301310 | Anemia sideroblastic and spinocerebellar ataxia | 301310 | C1845028 | OMIM | 1 | | 299 | 48 | 300135 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ABHD12 CL E G H | 26090 | 612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 612674 | C2675204 | OMIM | 1 | | 529 | 15868 | 613599 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ABHD12 CL E G H | 26090 | 612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 612674 | C2675204 | OMIM | 1 | | 529 | 15868 | 613599 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ABHD12 CL E G H | 26090 | 612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 612674 | C2675204 | OMIM | 1 | | 529 | 15868 | 613599 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ADA2 CL E G H | 51816 | 182410 | Idiopathic livedo reticularis with systemic involvement | 182410 | C0282492 | OMIM | 1 | | 533 | 1839 | 607575 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ADA2 CL E G H | 51816 | 182410 | Idiopathic livedo reticularis with systemic involvement | 182410 | C0282492 | OMIM | 1 | | 533 | 1839 | 607575 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ADA2 CL E G H | 51816 | 182410 | Idiopathic livedo reticularis with systemic involvement | 182410 | C0282492 | OMIM | 1 | | 533 | 1839 | 607575 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 1122 | 225 | 146920 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 1122 | 225 | 146920 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 1122 | 225 | 146920 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 653 | 236 | 600293 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 653 | 236 | 600293 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 653 | 236 | 600293 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 653 | 236 | 600293 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 653 | 236 | 600293 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 653 | 236 | 600293 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ADPRHL2 CL E G H | 54936 | 618170 | NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES | 618170 | | OMIM | 1 | | | 21304 | 610624 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ADPRHL2 CL E G H | 54936 | 618170 | NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES | 618170 | | OMIM | 1 | | | 21304 | 610624 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ADPRHL2 CL E G H | 54936 | 618170 | NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES | 618170 | | OMIM | 1 | | | 21304 | 610624 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | AFG3L2 CL E G H | 10939 | 101109 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | AFG3L2 CL E G H | 10939 | 101109 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | AFG3L2 CL E G H | 10939 | 101109 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 480 | 315 | 604581 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 480 | 315 | 604581 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 480 | 315 | 604581 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 1 | | 480 | 315 | 604581 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 1 | | 480 | 315 | 604581 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 1 | | 480 | 315 | 604581 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ALDH18A1 CL E G H | 5832 | 447760 | | | | ORPHA | 1 | | 586 | 9722 | 138250 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ALDH18A1 CL E G H | 5832 | 447760 | | | | ORPHA | 1 | | 586 | 9722 | 138250 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ALDH18A1 CL E G H | 5832 | 447760 | | | | ORPHA | 1 | | 586 | 9722 | 138250 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 586 | 9722 | 138250 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 586 | 9722 | 138250 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 586 | 9722 | 138250 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 635 | 403 | 609523 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 635 | 403 | 609523 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 635 | 403 | 609523 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 947 | 443 | 606352 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 947 | 443 | 606352 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 947 | 443 | 606352 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ALS2 CL E G H | 57679 | 607225 | Infantile-onset ascending hereditary spastic paralysis | 607225 | C2931441 | OMIM | 1 | | 947 | 443 | 606352 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ALS2 CL E G H | 57679 | 607225 | Infantile-onset ascending hereditary spastic paralysis | 607225 | C2931441 | OMIM | 1 | | 947 | 443 | 606352 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ALS2 CL E G H | 57679 | 607225 | Infantile-onset ascending hereditary spastic paralysis | 607225 | C2931441 | OMIM | 1 | | 947 | 443 | 606352 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ALS2 CL E G H | 57679 | 300605 | Juvenile amyotrophic lateral sclerosis | | CN239582 | ORPHA | 1 | | 947 | 443 | 606352 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ALS2 CL E G H | 57679 | 300605 | Juvenile amyotrophic lateral sclerosis | | CN239582 | ORPHA | 1 | | 947 | 443 | 606352 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ALS2 CL E G H | 57679 | 300605 | Juvenile amyotrophic lateral sclerosis | | CN239582 | ORPHA | 1 | | 947 | 443 | 606352 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | AMACR CL E G H | 23600 | 614307 | Alpha-methylacyl-CoA racemase deficiency | 614307 | C3280428 | OMIM | 1 | | 392 | 451 | 604489 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | AMACR CL E G H | 23600 | 614307 | Alpha-methylacyl-CoA racemase deficiency | 614307 | C3280428 | OMIM | 1 | | 392 | 451 | 604489 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | AMACR CL E G H | 23600 | 614307 | Alpha-methylacyl-CoA racemase deficiency | 614307 | C3280428 | OMIM | 1 | | 392 | 451 | 604489 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ANO10 CL E G H | 55129 | 284289 | | | | ORPHA | 1 | | 270 | 25519 | 613726 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ANO10 CL E G H | 55129 | 284289 | | | | ORPHA | 1 | | 270 | 25519 | 613726 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ANO10 CL E G H | 55129 | 284289 | | | | ORPHA | 1 | | 270 | 25519 | 613726 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ANO10 CL E G H | 55129 | 613728 | Spinocerebellar ataxia, autosomal recessive 10 | 613728 | C3150998 | OMIM | 1 | | 270 | 25519 | 613726 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ANO10 CL E G H | 55129 | 613728 | Spinocerebellar ataxia, autosomal recessive 10 | 613728 | C3150998 | OMIM | 1 | | 270 | 25519 | 613726 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ANO10 CL E G H | 55129 | 613728 | Spinocerebellar ataxia, autosomal recessive 10 | 613728 | C3150998 | OMIM | 1 | | 270 | 25519 | 613726 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | AP4B1 CL E G H | 10717 | 614066 | Spastic paraplegia 47, autosomal recessive | 614066 | C3279738 | OMIM | 1 | | 403 | 572 | 607245 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | AP4B1 CL E G H | 10717 | 614066 | Spastic paraplegia 47, autosomal recessive | 614066 | C3279738 | OMIM | 1 | | 403 | 572 | 607245 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | AP4B1 CL E G H | 10717 | 614066 | Spastic paraplegia 47, autosomal recessive | 614066 | C3279738 | OMIM | 1 | | 403 | 572 | 607245 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 331 | 15984 | 606350 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 331 | 15984 | 606350 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 331 | 15984 | 606350 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | AR CL E G H | 367 | 481 | | | | ORPHA | 1 | | 649 | 644 | 313700 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | AR CL E G H | 367 | 481 | | | | ORPHA | 1 | | 649 | 644 | 313700 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | AR CL E G H | 367 | 481 | | | | ORPHA | 1 | | 649 | 644 | 313700 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | AR CL E G H | 367 | 313200 | Bulbo-spinal atrophy X-linked | 313200 | C1839259 | OMIM | 1 | | 649 | 644 | 313700 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | AR CL E G H | 367 | 313200 | Bulbo-spinal atrophy X-linked | 313200 | C1839259 | OMIM | 1 | | 649 | 644 | 313700 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | AR CL E G H | 367 | 313200 | Bulbo-spinal atrophy X-linked | 313200 | C1839259 | OMIM | 1 | | 649 | 644 | 313700 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ARSA CL E G H | 410 | 309271 | | | | ORPHA | 1 | | 1140 | 713 | 607574 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ARSA CL E G H | 410 | 309256 | | | | ORPHA | 1 | | 1140 | 713 | 607574 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ARSA CL E G H | 410 | 309263 | | | | ORPHA | 1 | | 1140 | 713 | 607574 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ARSA CL E G H | 410 | 309271 | | | | ORPHA | 1 | | 1140 | 713 | 607574 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ARSA CL E G H | 410 | 309256 | | | | ORPHA | 1 | | 1140 | 713 | 607574 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ARSA CL E G H | 410 | 309263 | | | | ORPHA | 1 | | 1140 | 713 | 607574 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ARSA CL E G H | 410 | 309271 | | | | ORPHA | 1 | | 1140 | 713 | 607574 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ARSA CL E G H | 410 | 309256 | | | | ORPHA | 1 | | 1140 | 713 | 607574 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ARSA CL E G H | 410 | 309263 | | | | ORPHA | 1 | | 1140 | 713 | 607574 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 1140 | 713 | 607574 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 1140 | 713 | 607574 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 1140 | 713 | 607574 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ARX CL E G H | 170302 | 309510 | Partington X-linked mental retardation syndrome | 309510 | C0796250 | OMIM | 1 | | 810 | 18060 | 300382 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ARX CL E G H | 170302 | 309510 | Partington X-linked mental retardation syndrome | 309510 | C0796250 | OMIM | 1 | | 810 | 18060 | 300382 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ARX CL E G H | 170302 | 309510 | Partington X-linked mental retardation syndrome | 309510 | C0796250 | OMIM | 1 | | 810 | 18060 | 300382 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATCAY CL E G H | 85300 | 94122 | | | | ORPHA | 1 | | 209 | 779 | 608179 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATCAY CL E G H | 85300 | 94122 | | | | ORPHA | 1 | | 209 | 779 | 608179 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATCAY CL E G H | 85300 | 94122 | | | | ORPHA | 1 | | 209 | 779 | 608179 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATCAY CL E G H | 85300 | 601238 | Cerebellar ataxia, Cayman type | 601238 | C1832585 | OMIM | 1 | | 209 | 779 | 608179 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATCAY CL E G H | 85300 | 601238 | Cerebellar ataxia, Cayman type | 601238 | C1832585 | OMIM | 1 | | 209 | 779 | 608179 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATCAY CL E G H | 85300 | 601238 | Cerebellar ataxia, Cayman type | 601238 | C1832585 | OMIM | 1 | | 209 | 779 | 608179 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATM CL E G H | 472 | 100 | | | | ORPHA | 1 | | 14692 | 795 | 607585 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATM CL E G H | 472 | 100 | | | | ORPHA | 1 | | 14692 | 795 | 607585 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATM CL E G H | 472 | 100 | | | | ORPHA | 1 | | 14692 | 795 | 607585 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 213 | 3033 | 607462 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 213 | 3033 | 607462 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 213 | 3033 | 607462 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATP13A2 CL E G H | 23400 | 513436 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATP13A2 CL E G H | 23400 | 513436 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATP13A2 CL E G H | 23400 | 513436 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATP13A2 CL E G H | 23400 | 617225 | Spastic paraplegia 78, autosomal recessive | 617225 | C4310662 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATP13A2 CL E G H | 23400 | 617225 | Spastic paraplegia 78, autosomal recessive | 617225 | C4310662 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATP13A2 CL E G H | 23400 | 617225 | Spastic paraplegia 78, autosomal recessive | 617225 | C4310662 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATP1A2 CL E G H | 477 | 602481 | Familial hemiplegic migraine type 2 | 602481 | C1865322 | OMIM | 1 | | 1117 | 800 | 182340 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATP1A2 CL E G H | 477 | 602481 | Familial hemiplegic migraine type 2 | 602481 | C1865322 | OMIM | 1 | | 1117 | 800 | 182340 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATP1A2 CL E G H | 477 | 602481 | Familial hemiplegic migraine type 2 | 602481 | C1865322 | OMIM | 1 | | 1117 | 800 | 182340 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATP1A3 CL E G H | 478 | 71517 | | | | ORPHA | 1 | | 993 | 801 | 182350 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATP1A3 CL E G H | 478 | 71517 | | | | ORPHA | 1 | | 993 | 801 | 182350 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATP1A3 CL E G H | 478 | 71517 | | | | ORPHA | 1 | | 993 | 801 | 182350 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATP1A3 CL E G H | 478 | 601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss | 601338 | C1832466 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATP1A3 CL E G H | 478 | 601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss | 601338 | C1832466 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATP1A3 CL E G H | 478 | 601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss | 601338 | C1832466 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATP1A3 CL E G H | 478 | 128235 | Dystonia 12 | 128235 | C1868681 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATP1A3 CL E G H | 478 | 128235 | Dystonia 12 | 128235 | C1868681 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATP1A3 CL E G H | 478 | 128235 | Dystonia 12 | 128235 | C1868681 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATP2B3 CL E G H | 492 | 302500 | Spinocerebellar ataxia, X-linked 1 | 302500 | C0796205 | OMIM | 1 | | 352 | 816 | 300014 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATP2B3 CL E G H | 492 | 302500 | Spinocerebellar ataxia, X-linked 1 | 302500 | C0796205 | OMIM | 1 | | 352 | 816 | 300014 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATP2B3 CL E G H | 492 | 302500 | Spinocerebellar ataxia, X-linked 1 | 302500 | C0796205 | OMIM | 1 | | 352 | 816 | 300014 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATP7B CL E G H | 540 | 905 | | | | ORPHA | 1 | | 2303 | 870 | 606882 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATP7B CL E G H | 540 | 905 | | | | ORPHA | 1 | | 2303 | 870 | 606882 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATP7B CL E G H | 540 | 905 | | | | ORPHA | 1 | | 2303 | 870 | 606882 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 2303 | 870 | 606882 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 2303 | 870 | 606882 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 2303 | 870 | 606882 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATP8A2 CL E G H | 51761 | 615268 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | 615268 | C3808977 | OMIM | 1 | | 444 | 13533 | 605870 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATP8A2 CL E G H | 51761 | 615268 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | 615268 | C3808977 | OMIM | 1 | | 444 | 13533 | 605870 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATP8A2 CL E G H | 51761 | 615268 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | 615268 | C3808977 | OMIM | 1 | | 444 | 13533 | 605870 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATXN1 CL E G H | 6310 | 98755 | | | | ORPHA | 1 | | 120 | 10548 | 601556 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATXN1 CL E G H | 6310 | 98755 | | | | ORPHA | 1 | | 120 | 10548 | 601556 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATXN1 CL E G H | 6310 | 98755 | | | | ORPHA | 1 | | 120 | 10548 | 601556 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 120 | 10548 | 601556 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 120 | 10548 | 601556 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 120 | 10548 | 601556 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATXN10 CL E G H | 25814 | 98761 | | | | ORPHA | 1 | | 116 | 10549 | 611150 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATXN10 CL E G H | 25814 | 98761 | | | | ORPHA | 1 | | 116 | 10549 | 611150 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATXN10 CL E G H | 25814 | 98761 | | | | ORPHA | 1 | | 116 | 10549 | 611150 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 116 | 10549 | 611150 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 116 | 10549 | 611150 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 116 | 10549 | 611150 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 115 | 10555 | 601517 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 115 | 10555 | 601517 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 115 | 10555 | 601517 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATXN3 CL E G H | 4287 | 276238 | | | | ORPHA | 1 | | 65 | 7106 | 607047 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATXN3 CL E G H | 4287 | 276241 | | | | ORPHA | 1 | | 65 | 7106 | 607047 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATXN3 CL E G H | 4287 | 276244 | | | | ORPHA | 1 | | 65 | 7106 | 607047 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATXN3 CL E G H | 4287 | 276238 | | | | ORPHA | 1 | | 65 | 7106 | 607047 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATXN3 CL E G H | 4287 | 276241 | | | | ORPHA | 1 | | 65 | 7106 | 607047 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATXN3 CL E G H | 4287 | 276244 | | | | ORPHA | 1 | | 65 | 7106 | 607047 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATXN3 CL E G H | 4287 | 276241 | | | | ORPHA | 1 | | 65 | 7106 | 607047 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATXN3 CL E G H | 4287 | 276244 | | | | ORPHA | 1 | | 65 | 7106 | 607047 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATXN3 CL E G H | 4287 | 276238 | | | | ORPHA | 1 | | 65 | 7106 | 607047 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 98 | 10560 | 607640 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 98 | 10560 | 607640 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 98 | 10560 | 607640 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATXN8 CL E G H | 724066 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 2 | 32925 | 613289 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATXN8 CL E G H | 724066 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 2 | 32925 | 613289 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATXN8 CL E G H | 724066 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 2 | 32925 | 613289 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATXN8OS CL E G H | 6315 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 87 | 10561 | 603680 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATXN8OS CL E G H | 6315 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 87 | 10561 | 603680 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATXN8OS CL E G H | 6315 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 87 | 10561 | 603680 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | AUH CL E G H | 549 | 250950 | 3-Methylglutaconic aciduria type 1 | 250950 | C0342727 | OMIM | 1 | | 249 | 890 | 600529 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | AUH CL E G H | 549 | 250950 | 3-Methylglutaconic aciduria type 1 | 250950 | C0342727 | OMIM | 1 | | 249 | 890 | 600529 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | AUH CL E G H | 549 | 250950 | 3-Methylglutaconic aciduria type 1 | 250950 | C0342727 | OMIM | 1 | | 249 | 890 | 600529 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 295 | 4117 | 601873 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 295 | 4117 | 601873 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 295 | 4117 | 601873 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | BEAN1 CL E G H | 146227 | 217012 | | | | ORPHA | 1 | | 56 | 24160 | 612051 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | BEAN1 CL E G H | 146227 | 217012 | | | | ORPHA | 1 | | 56 | 24160 | 612051 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | BEAN1 CL E G H | 146227 | 217012 | | | | ORPHA | 1 | | 56 | 24160 | 612051 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | BEAN1 CL E G H | 146227 | 117210 | Spinocerebellar ataxia 31 | 117210 | C1861736 | OMIM | 1 | | 56 | 24160 | 612051 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | BEAN1 CL E G H | 146227 | 117210 | Spinocerebellar ataxia 31 | 117210 | C1861736 | OMIM | 1 | | 56 | 24160 | 612051 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | BEAN1 CL E G H | 146227 | 117210 | Spinocerebellar ataxia 31 | 117210 | C1861736 | OMIM | 1 | | 56 | 24160 | 612051 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 656 | 1052 | 601248 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 656 | 1052 | 601248 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 656 | 1052 | 601248 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | BRAF CL E G H | 673 | 648 | | | | ORPHA | 1 | | 1182 | 1097 | 164757 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | BRAF CL E G H | 673 | 648 | | | | ORPHA | 1 | | 1182 | 1097 | 164757 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | BRAF CL E G H | 673 | 648 | | | | ORPHA | 1 | | 1182 | 1097 | 164757 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | C12orf65 CL E G H | 91574 | 613559 | Combined oxidative phosphorylation deficiency 7 | 613559 | C3150801 | OMIM | 1 | | | 26784 | 613541 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | C12orf65 CL E G H | 91574 | 613559 | Combined oxidative phosphorylation deficiency 7 | 613559 | C3150801 | OMIM | 1 | | | 26784 | 613541 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | C12orf65 CL E G H | 91574 | 613559 | Combined oxidative phosphorylation deficiency 7 | 613559 | C3150801 | OMIM | 1 | | | 26784 | 613541 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 307 | 25443 | 614297 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 307 | 25443 | 614297 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 307 | 25443 | 614297 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | C19orf12 CL E G H | 83636 | 615043 | Spastic paraplegia 43, autosomal recessive | 615043 | C2680446 | OMIM | 1 | | 307 | 25443 | 614297 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | C19orf12 CL E G H | 83636 | 615043 | Spastic paraplegia 43, autosomal recessive | 615043 | C2680446 | OMIM | 1 | | 307 | 25443 | 614297 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | C19orf12 CL E G H | 83636 | 615043 | Spastic paraplegia 43, autosomal recessive | 615043 | C2680446 | OMIM | 1 | | 307 | 25443 | 614297 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | C9orf72 CL E G H | 203228 | 105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | 105550 | C1862937 | OMIM | 1 | | 177 | 28337 | 614260 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | C9orf72 CL E G H | 203228 | 105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | 105550 | C1862937 | OMIM | 1 | | 177 | 28337 | 614260 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | C9orf72 CL E G H | 203228 | 105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | 105550 | C1862937 | OMIM | 1 | | 177 | 28337 | 614260 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CA8 CL E G H | 767 | 613227 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 | 613227 | C2750509 | OMIM | 1 | | 94 | 1382 | 114815 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CA8 CL E G H | 767 | 613227 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 | 613227 | C2750509 | OMIM | 1 | | 94 | 1382 | 114815 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CA8 CL E G H | 767 | 613227 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 | 613227 | C2750509 | OMIM | 1 | | 94 | 1382 | 114815 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CACNA1A CL E G H | 773 | 97 | | | | ORPHA | 1 | | 3248 | 1388 | 601011 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CACNA1A CL E G H | 773 | 97 | | | | ORPHA | 1 | | 3248 | 1388 | 601011 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CACNA1A CL E G H | 773 | 97 | | | | ORPHA | 1 | | 3248 | 1388 | 601011 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CACNA1A CL E G H | 773 | 108500 | Episodic ataxia type 2 | 108500 | C1720416 | OMIM | 1 | | 3248 | 1388 | 601011 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CACNA1A CL E G H | 773 | 108500 | Episodic ataxia type 2 | 108500 | C1720416 | OMIM | 1 | | 3248 | 1388 | 601011 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CACNA1A CL E G H | 773 | 108500 | Episodic ataxia type 2 | 108500 | C1720416 | OMIM | 1 | | 3248 | 1388 | 601011 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CACNA1A CL E G H | 773 | 183086 | Spinocerebellar ataxia 6 | 183086 | C0752124 | OMIM | 1 | | 3248 | 1388 | 601011 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CACNA1A CL E G H | 773 | 183086 | Spinocerebellar ataxia 6 | 183086 | C0752124 | OMIM | 1 | | 3248 | 1388 | 601011 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CACNA1A CL E G H | 773 | 183086 | Spinocerebellar ataxia 6 | 183086 | C0752124 | OMIM | 1 | | 3248 | 1388 | 601011 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CACNA1G CL E G H | 8913 | 458803 | | | | ORPHA | 1 | | 822 | 1394 | 604065 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CACNA1G CL E G H | 8913 | 458803 | | | | ORPHA | 1 | | 822 | 1394 | 604065 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CACNA1G CL E G H | 8913 | 458803 | | | | ORPHA | 1 | | 822 | 1394 | 604065 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CACNB4 CL E G H | 785 | 211067 | | | | ORPHA | 1 | | 323 | 1404 | 601949 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CACNB4 CL E G H | 785 | 211067 | | | | ORPHA | 1 | | 323 | 1404 | 601949 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CACNB4 CL E G H | 785 | 211067 | | | | ORPHA | 1 | | 323 | 1404 | 601949 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CACNB4 CL E G H | 785 | 613855 | Episodic ataxia, type 5 | 613855 | C1866039 | OMIM | 1 | | 323 | 1404 | 601949 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CACNB4 CL E G H | 785 | 613855 | Episodic ataxia, type 5 | 613855 | C1866039 | OMIM | 1 | | 323 | 1404 | 601949 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CACNB4 CL E G H | 785 | 613855 | Episodic ataxia, type 5 | 613855 | C1866039 | OMIM | 1 | | 323 | 1404 | 601949 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CAMTA1 CL E G H | 23261 | 314647 | | | | ORPHA | 1 | | 550 | 18806 | 611501 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CAMTA1 CL E G H | 23261 | 314647 | | | | ORPHA | 1 | | 550 | 18806 | 611501 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CAMTA1 CL E G H | 23261 | 314647 | | | | ORPHA | 1 | | 550 | 18806 | 611501 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CAMTA1 CL E G H | 23261 | 614756 | Cerebellar ataxia, nonprogressive, with mental retardation | 614756 | C3553661 | OMIM | 1 | | 550 | 18806 | 611501 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CAMTA1 CL E G H | 23261 | 614756 | Cerebellar ataxia, nonprogressive, with mental retardation | 614756 | C3553661 | OMIM | 1 | | 550 | 18806 | 611501 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CAMTA1 CL E G H | 23261 | 614756 | Cerebellar ataxia, nonprogressive, with mental retardation | 614756 | C3553661 | OMIM | 1 | | 550 | 18806 | 611501 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CAPN1 CL E G H | 823 | 488594 | | | | ORPHA | 1 | | 248 | 1476 | 114220 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CAPN1 CL E G H | 823 | 488594 | | | | ORPHA | 1 | | 248 | 1476 | 114220 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CAPN1 CL E G H | 823 | 488594 | | | | ORPHA | 1 | | 248 | 1476 | 114220 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CCDC88C CL E G H | 440193 | 423275 | | | | ORPHA | 1 | | 586 | 19967 | 611204 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CCDC88C CL E G H | 440193 | 423275 | | | | ORPHA | 1 | | 586 | 19967 | 611204 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CCDC88C CL E G H | 440193 | 423275 | | | | ORPHA | 1 | | 586 | 19967 | 611204 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CCDC88C CL E G H | 440193 | 616053 | Spinocerebellar ataxia 40 | 616053 | CN252333 | OMIM | 1 | | 586 | 19967 | 611204 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CCDC88C CL E G H | 440193 | 616053 | Spinocerebellar ataxia 40 | 616053 | CN252333 | OMIM | 1 | | 586 | 19967 | 611204 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CCDC88C CL E G H | 440193 | 616053 | Spinocerebellar ataxia 40 | 616053 | CN252333 | OMIM | 1 | | 586 | 19967 | 611204 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CHCHD10 CL E G H | 400916 | 615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 | C4014648 | OMIM | 1 | | 297 | 15559 | 615903 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CHCHD10 CL E G H | 400916 | 615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 | C4014648 | OMIM | 1 | | 297 | 15559 | 615903 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CHCHD10 CL E G H | 400916 | 615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 | C4014648 | OMIM | 1 | | 297 | 15559 | 615903 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CHD3 CL E G H | 1107 | 618205 | SNIJDERS BLOK-CAMPEAU SYNDROME | 618205 | | OMIM | 1 | | 378 | 1918 | 602120 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CHD3 CL E G H | 1107 | 618205 | SNIJDERS BLOK-CAMPEAU SYNDROME | 618205 | | OMIM | 1 | | 378 | 1918 | 602120 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CHD3 CL E G H | 1107 | 618205 | SNIJDERS BLOK-CAMPEAU SYNDROME | 618205 | | OMIM | 1 | | 378 | 1918 | 602120 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 160 | 24537 | 609512 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 160 | 24537 | 609512 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 160 | 24537 | 609512 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CHRNA1 CL E G H | 1134 | 608930 | Congenital myasthenic syndrome 1B, fast-channel | 608930 | C1837122 | OMIM | 1 | | 468 | 1955 | 100690 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CHRNA1 CL E G H | 1134 | 608930 | Congenital myasthenic syndrome 1B, fast-channel | 608930 | C1837122 | OMIM | 1 | | 468 | 1955 | 100690 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CHRNA1 CL E G H | 1134 | 608930 | Congenital myasthenic syndrome 1B, fast-channel | 608930 | C1837122 | OMIM | 1 | | 468 | 1955 | 100690 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CHRNA1 CL E G H | 1134 | 601462 | Myasthenic syndrome, slow-channel congenital | 601462 | C0751885 | OMIM | 1 | | 468 | 1955 | 100690 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CHRNA1 CL E G H | 1134 | 601462 | Myasthenic syndrome, slow-channel congenital | 601462 | C0751885 | OMIM | 1 | | 468 | 1955 | 100690 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CHRNA1 CL E G H | 1134 | 601462 | Myasthenic syndrome, slow-channel congenital | 601462 | C0751885 | OMIM | 1 | | 468 | 1955 | 100690 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CHRNE CL E G H | 1145 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 1011 | 1966 | 100725 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CHRNE CL E G H | 1145 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 1011 | 1966 | 100725 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CHRNE CL E G H | 1145 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 1011 | 1966 | 100725 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 1 | | 71 | 24212 | 611507 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 1 | | 71 | 24212 | 611507 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 1 | | 71 | 24212 | 611507 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 1015 | 2074 | 607042 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 1015 | 2074 | 607042 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 1015 | 2074 | 607042 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | COASY CL E G H | 80347 | 397725 | | | | ORPHA | 1 | | 281 | 29932 | 609855 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | COASY CL E G H | 80347 | 397725 | | | | ORPHA | 1 | | 281 | 29932 | 609855 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | COASY CL E G H | 80347 | 397725 | | | | ORPHA | 1 | | 281 | 29932 | 609855 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 281 | 29932 | 609855 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 281 | 29932 | 609855 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 281 | 29932 | 609855 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | COLQ CL E G H | 8292 | 603034 | Endplate acetylcholinesterase deficiency | 603034 | C1864233 | OMIM | 1 | | 542 | 2226 | 603033 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | COLQ CL E G H | 8292 | 603034 | Endplate acetylcholinesterase deficiency | 603034 | C1864233 | OMIM | 1 | | 542 | 2226 | 603033 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | COLQ CL E G H | 8292 | 603034 | Endplate acetylcholinesterase deficiency | 603034 | C1864233 | OMIM | 1 | | 542 | 2226 | 603033 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | COQ2 CL E G H | 27235 | 227510 | | | | ORPHA | 1 | | 346 | 25223 | 609825 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | COQ2 CL E G H | 27235 | 227510 | | | | ORPHA | 1 | | 346 | 25223 | 609825 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | COQ2 CL E G H | 27235 | 227510 | | | | ORPHA | 1 | | 346 | 25223 | 609825 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | COX15 CL E G H | 1355 | 255241 | | | | ORPHA | 1 | | 357 | 2263 | 603646 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | COX15 CL E G H | 1355 | 255241 | | | | ORPHA | 1 | | 357 | 2263 | 603646 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | COX15 CL E G H | 1355 | 255241 | | | | ORPHA | 1 | | 357 | 2263 | 603646 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CSTB CL E G H | 1476 | 308 | | | | ORPHA | 1 | | 261 | 2482 | 601145 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CSTB CL E G H | 1476 | 308 | | | | ORPHA | 1 | | 261 | 2482 | 601145 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CSTB CL E G H | 1476 | 308 | | | | ORPHA | 1 | | 261 | 2482 | 601145 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 218 | 2531 | 603539 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 218 | 2531 | 603539 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 218 | 2531 | 603539 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CWF19L1 CL E G H | 55280 | 453521 | | | | ORPHA | 1 | | 100 | 25613 | 616120 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CWF19L1 CL E G H | 55280 | 453521 | | | | ORPHA | 1 | | 100 | 25613 | 616120 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CWF19L1 CL E G H | 55280 | 453521 | | | | ORPHA | 1 | | 100 | 25613 | 616120 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CWF19L1 CL E G H | 55280 | 616127 | Spinocerebellar ataxia, autosomal recessive 17 | 616127 | C4015301 | OMIM | 1 | | 100 | 25613 | 616120 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CWF19L1 CL E G H | 55280 | 616127 | Spinocerebellar ataxia, autosomal recessive 17 | 616127 | C4015301 | OMIM | 1 | | 100 | 25613 | 616120 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CWF19L1 CL E G H | 55280 | 616127 | Spinocerebellar ataxia, autosomal recessive 17 | 616127 | C4015301 | OMIM | 1 | | 100 | 25613 | 616120 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CYP7B1 CL E G H | 9420 | 270800 | Spastic paraplegia 5A | 270800 | C1849115 | OMIM | 1 | | 415 | 2652 | 603711 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CYP7B1 CL E G H | 9420 | 270800 | Spastic paraplegia 5A | 270800 | C1849115 | OMIM | 1 | | 415 | 2652 | 603711 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CYP7B1 CL E G H | 9420 | 270800 | Spastic paraplegia 5A | 270800 | C1849115 | OMIM | 1 | | 415 | 2652 | 603711 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | DAB1 CL E G H | 1600 | 615945 | Spinocerebellar ataxia 37 | 615945 | C3889636 | OMIM | 1 | | 107 | 2661 | 603448 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | DAB1 CL E G H | 1600 | 615945 | Spinocerebellar ataxia 37 | 615945 | C3889636 | OMIM | 1 | | 107 | 2661 | 603448 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | DAB1 CL E G H | 1600 | 615945 | Spinocerebellar ataxia 37 | 615945 | C3889636 | OMIM | 1 | | 107 | 2661 | 603448 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | DCAF17 CL E G H | 80067 | 3464 | | | | ORPHA | 1 | | 366 | 25784 | 612515 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | DCAF17 CL E G H | 80067 | 3464 | | | | ORPHA | 1 | | 366 | 25784 | 612515 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | DCAF17 CL E G H | 80067 | 3464 | | | | ORPHA | 1 | | 366 | 25784 | 612515 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | DCAF17 CL E G H | 80067 | 241080 | Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities | 241080 | C0342286 | OMIM | 1 | | 366 | 25784 | 612515 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | DCAF17 CL E G H | 80067 | 241080 | Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities | 241080 | C0342286 | OMIM | 1 | | 366 | 25784 | 612515 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | DCAF17 CL E G H | 80067 | 241080 | Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities | 241080 | C0342286 | OMIM | 1 | | 366 | 25784 | 612515 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | DCTN1 CL E G H | 1639 | 168605 | Perry syndrome | 168605 | C1868594 | OMIM | 1 | | 1084 | 2711 | 601143 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | DCTN1 CL E G H | 1639 | 168605 | Perry syndrome | 168605 | C1868594 | OMIM | 1 | | 1084 | 2711 | 601143 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | DCTN1 CL E G H | 1639 | 168605 | Perry syndrome | 168605 | C1868594 | OMIM | 1 | | 1084 | 2711 | 601143 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | DCX CL E G H | 1641 | 300067 | Lissencephaly, X-linked | 300067 | C1848199 | OMIM | 1 | | 423 | 2714 | 300121 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | DCX CL E G H | 1641 | 300067 | Lissencephaly, X-linked | 300067 | C1848199 | OMIM | 1 | | 423 | 2714 | 300121 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | DCX CL E G H | 1641 | 300067 | Lissencephaly, X-linked | 300067 | C1848199 | OMIM | 1 | | 423 | 2714 | 300121 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | DDHD2 CL E G H | 23259 | 320380 | | | | ORPHA | 1 | | 341 | 29106 | 615003 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | DDHD2 CL E G H | 23259 | 320380 | | | | ORPHA | 1 | | 341 | 29106 | 615003 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | DDHD2 CL E G H | 23259 | 320380 | | | | ORPHA | 1 | | 341 | 29106 | 615003 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | DDHD2 CL E G H | 23259 | 615033 | Spastic paraplegia 54, autosomal recessive | 615033 | C3539495 | OMIM | 1 | | 341 | 29106 | 615003 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | DDHD2 CL E G H | 23259 | 615033 | Spastic paraplegia 54, autosomal recessive | 615033 | C3539495 | OMIM | 1 | | 341 | 29106 | 615003 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | DDHD2 CL E G H | 23259 | 615033 | Spastic paraplegia 54, autosomal recessive | 615033 | C3539495 | OMIM | 1 | | 341 | 29106 | 615003 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | DMXL2 CL E G H | 23312 | 616113 | Polyendocrine-polyneuropathy syndrome | 616113 | C4015261 | OMIM | 1 | | 1216 | 2938 | 612186 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | DMXL2 CL E G H | 23312 | 616113 | Polyendocrine-polyneuropathy syndrome | 616113 | C4015261 | OMIM | 1 | | 1216 | 2938 | 612186 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | DMXL2 CL E G H | 23312 | 616113 | Polyendocrine-polyneuropathy syndrome | 616113 | C4015261 | OMIM | 1 | | 1216 | 2938 | 612186 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | DNAJB6 CL E G H | 10049 | 34516 | | | | ORPHA | 1 | | 487 | 14888 | 611332 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | DNAJB6 CL E G H | 10049 | 34516 | | | | ORPHA | 1 | | 487 | 14888 | 611332 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | DNAJB6 CL E G H | 10049 | 34516 | | | | ORPHA | 1 | | 487 | 14888 | 611332 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | DNAJC6 CL E G H | 9829 | 615528 | Parkinson disease 19a, juvenile-onset | 615528 | C3809811 | OMIM | 1 | | 310 | 15469 | 608375 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | DNAJC6 CL E G H | 9829 | 615528 | Parkinson disease 19a, juvenile-onset | 615528 | C3809811 | OMIM | 1 | | 310 | 15469 | 608375 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | DNAJC6 CL E G H | 9829 | 615528 | Parkinson disease 19a, juvenile-onset | 615528 | C3809811 | OMIM | 1 | | 310 | 15469 | 608375 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | EBF3 CL E G H | 253738 | 617330 | Hypotonia, ataxia, and delayed development syndrome | 617330 | C4310618 | OMIM | 1 | | 288 | 19087 | 607407 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | EBF3 CL E G H | 253738 | 617330 | Hypotonia, ataxia, and delayed development syndrome | 617330 | C4310618 | OMIM | 1 | | 288 | 19087 | 607407 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | EBF3 CL E G H | 253738 | 617330 | Hypotonia, ataxia, and delayed development syndrome | 617330 | C4310618 | OMIM | 1 | | 288 | 19087 | 607407 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ECHS1 CL E G H | 1892 | 255241 | | | | ORPHA | 1 | | 431 | 3151 | 602292 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ECHS1 CL E G H | 1892 | 255241 | | | | ORPHA | 1 | | 431 | 3151 | 602292 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ECHS1 CL E G H | 1892 | 255241 | | | | ORPHA | 1 | | 431 | 3151 | 602292 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | EEF2 CL E G H | 1938 | 101112 | | | | ORPHA | 1 | | 319 | 3214 | 130610 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | EEF2 CL E G H | 1938 | 101112 | | | | ORPHA | 1 | | 319 | 3214 | 130610 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | EEF2 CL E G H | 1938 | 101112 | | | | ORPHA | 1 | | 319 | 3214 | 130610 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | EEF2 CL E G H | 1938 | 609306 | Spinocerebellar ataxia 26 | 609306 | C1836395 | OMIM | 1 | | 319 | 3214 | 130610 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | EEF2 CL E G H | 1938 | 609306 | Spinocerebellar ataxia 26 | 609306 | C1836395 | OMIM | 1 | | 319 | 3214 | 130610 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | EEF2 CL E G H | 1938 | 609306 | Spinocerebellar ataxia 26 | 609306 | C1836395 | OMIM | 1 | | 319 | 3214 | 130610 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | EIF2B1 CL E G H | 1967 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 192 | 3257 | 606686 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | EIF2B1 CL E G H | 1967 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 192 | 3257 | 606686 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | EIF2B1 CL E G H | 1967 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 192 | 3257 | 606686 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | EIF2B2 CL E G H | 8892 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 190 | 3258 | 606454 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | EIF2B2 CL E G H | 8892 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 190 | 3258 | 606454 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | EIF2B2 CL E G H | 8892 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 190 | 3258 | 606454 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | EIF2B3 CL E G H | 8891 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 181 | 3259 | 606273 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | EIF2B3 CL E G H | 8891 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 181 | 3259 | 606273 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | EIF2B3 CL E G H | 8891 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 181 | 3259 | 606273 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | EIF2B4 CL E G H | 8890 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 233 | 3260 | 606687 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | EIF2B4 CL E G H | 8890 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 233 | 3260 | 606687 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | EIF2B4 CL E G H | 8890 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 233 | 3260 | 606687 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | EIF2B5 CL E G H | 8893 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 579 | 3261 | 603945 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | EIF2B5 CL E G H | 8893 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 579 | 3261 | 603945 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | EIF2B5 CL E G H | 8893 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 579 | 3261 | 603945 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ELOVL4 CL E G H | 6785 | 1955 | | | | ORPHA | 1 | | 297 | 14415 | 605512 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ELOVL4 CL E G H | 6785 | 1955 | | | | ORPHA | 1 | | 297 | 14415 | 605512 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ELOVL4 CL E G H | 6785 | 1955 | | | | ORPHA | 1 | | 297 | 14415 | 605512 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ELOVL4 CL E G H | 6785 | 133190 | Erythrokeratodermia with ataxia | 133190 | C1851481 | OMIM | 1 | | 297 | 14415 | 605512 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ELOVL4 CL E G H | 6785 | 133190 | Erythrokeratodermia with ataxia | 133190 | C1851481 | OMIM | 1 | | 297 | 14415 | 605512 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ELOVL4 CL E G H | 6785 | 133190 | Erythrokeratodermia with ataxia | 133190 | C1851481 | OMIM | 1 | | 297 | 14415 | 605512 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ELOVL5 CL E G H | 60481 | 423296 | | | | ORPHA | 1 | | 105 | 21308 | 611805 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ELOVL5 CL E G H | 60481 | 423296 | | | | ORPHA | 1 | | 105 | 21308 | 611805 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ELOVL5 CL E G H | 60481 | 423296 | | | | ORPHA | 1 | | 105 | 21308 | 611805 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ELOVL5 CL E G H | 60481 | 615957 | Spinocerebellar ataxia 38 | 615957 | C4014812 | OMIM | 1 | | 105 | 21308 | 611805 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ELOVL5 CL E G H | 60481 | 615957 | Spinocerebellar ataxia 38 | 615957 | C4014812 | OMIM | 1 | | 105 | 21308 | 611805 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ELOVL5 CL E G H | 60481 | 615957 | Spinocerebellar ataxia 38 | 615957 | C4014812 | OMIM | 1 | | 105 | 21308 | 611805 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ENTPD1 CL E G H | 953 | 401810 | | | | ORPHA | 1 | | 199 | 3363 | 601752 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ENTPD1 CL E G H | 953 | 401810 | | | | ORPHA | 1 | | 199 | 3363 | 601752 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ENTPD1 CL E G H | 953 | 401810 | | | | ORPHA | 1 | | 199 | 3363 | 601752 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ENTPD1 CL E G H | 953 | 615683 | Spastic paraplegia 64, autosomal recessive | 615683 | C3810289 | OMIM | 1 | | 199 | 3363 | 601752 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ENTPD1 CL E G H | 953 | 615683 | Spastic paraplegia 64, autosomal recessive | 615683 | C3810289 | OMIM | 1 | | 199 | 3363 | 601752 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ENTPD1 CL E G H | 953 | 615683 | Spastic paraplegia 64, autosomal recessive | 615683 | C3810289 | OMIM | 1 | | 199 | 3363 | 601752 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 523 | 3435 | 133510 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 523 | 3435 | 133510 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 523 | 3435 | 133510 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 726 | 3436 | 133520 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 726 | 3436 | 133520 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 726 | 3436 | 133520 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | | 484 | 3439 | 609412 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | | 484 | 3439 | 609412 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | | 484 | 3439 | 609412 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ERLIN1 CL E G H | 10613 | 401785 | | | | ORPHA | 1 | | 136 | 16947 | 611604 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ERLIN1 CL E G H | 10613 | 401785 | | | | ORPHA | 1 | | 136 | 16947 | 611604 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ERLIN1 CL E G H | 10613 | 401785 | | | | ORPHA | 1 | | 136 | 16947 | 611604 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | EZH2 CL E G H | 2146 | 277590 | Weaver syndrome | 277590 | C0265210 | OMIM | 1 | | 538 | 3527 | 601573 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | EZH2 CL E G H | 2146 | 277590 | Weaver syndrome | 277590 | C0265210 | OMIM | 1 | | 538 | 3527 | 601573 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | EZH2 CL E G H | 2146 | 277590 | Weaver syndrome | 277590 | C0265210 | OMIM | 1 | | 538 | 3527 | 601573 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | FA2H CL E G H | 79152 | 171629 | | | | ORPHA | 1 | | 381 | 21197 | 611026 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | FA2H CL E G H | 79152 | 171629 | | | | ORPHA | 1 | | 381 | 21197 | 611026 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | FA2H CL E G H | 79152 | 171629 | | | | ORPHA | 1 | | 381 | 21197 | 611026 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | FA2H CL E G H | 79152 | 612319 | Spastic paraplegia 35 | 612319 | C3668943 | OMIM | 1 | | 381 | 21197 | 611026 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | FA2H CL E G H | 79152 | 612319 | Spastic paraplegia 35 | 612319 | C3668943 | OMIM | 1 | | 381 | 21197 | 611026 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | FA2H CL E G H | 79152 | 612319 | Spastic paraplegia 35 | 612319 | C3668943 | OMIM | 1 | | 381 | 21197 | 611026 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | FAM126A CL E G H | 84668 | 610532 | Hypomyelination and Congenital Cataract | 610532 | C1864663 | OMIM | 1 | | | 24587 | 610531 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | FAM126A CL E G H | 84668 | 610532 | Hypomyelination and Congenital Cataract | 610532 | C1864663 | OMIM | 1 | | | 24587 | 610531 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | FAM126A CL E G H | 84668 | 610532 | Hypomyelination and Congenital Cataract | 610532 | C1864663 | OMIM | 1 | | | 24587 | 610531 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | FAT2 CL E G H | 2196 | 617769 | SPINOCEREBELLAR ATAXIA 45 | 617769 | C4540400 | OMIM | 1 | | 755 | 3596 | 604269 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | FAT2 CL E G H | 2196 | 617769 | SPINOCEREBELLAR ATAXIA 45 | 617769 | C4540400 | OMIM | 1 | | 755 | 3596 | 604269 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | FAT2 CL E G H | 2196 | 617769 | SPINOCEREBELLAR ATAXIA 45 | 617769 | C4540400 | OMIM | 1 | | 755 | 3596 | 604269 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | FBXO7 CL E G H | 25793 | 260300 | Parkinson disease 15 | 260300 | C1850100 | OMIM | 1 | | 243 | 13586 | 605648 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | FBXO7 CL E G H | 25793 | 260300 | Parkinson disease 15 | 260300 | C1850100 | OMIM | 1 | | 243 | 13586 | 605648 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | FBXO7 CL E G H | 25793 | 260300 | Parkinson disease 15 | 260300 | C1850100 | OMIM | 1 | | 243 | 13586 | 605648 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | FGF14 CL E G H | 2259 | 98764 | | | | ORPHA | 1 | | 251 | 3671 | 601515 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | FGF14 CL E G H | 2259 | 98764 | | | | ORPHA | 1 | | 251 | 3671 | 601515 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | FGF14 CL E G H | 2259 | 98764 | | | | ORPHA | 1 | | 251 | 3671 | 601515 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | FLRT1 CL E G H | 23769 | 320406 | | | | ORPHA | 1 | | 154 | 3760 | 604806 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | FLRT1 CL E G H | 23769 | 320406 | | | | ORPHA | 1 | | 154 | 3760 | 604806 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | FLRT1 CL E G H | 23769 | 320406 | | | | ORPHA | 1 | | 154 | 3760 | 604806 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 371 | 3775 | 309550 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 371 | 3775 | 309550 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 371 | 3775 | 309550 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 371 | 3775 | 309550 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 371 | 3775 | 309550 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 371 | 3775 | 309550 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | FOXRED1 CL E G H | 55572 | 255241 | | | | ORPHA | 1 | | 323 | 26927 | 613622 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | FOXRED1 CL E G H | 55572 | 255241 | | | | ORPHA | 1 | | 323 | 26927 | 613622 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | FOXRED1 CL E G H | 55572 | 255241 | | | | ORPHA | 1 | | 323 | 26927 | 613622 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | FTL CL E G H | 2512 | 606159 | Neuroferritinopathy | 606159 | C1853578 | OMIM | 1 | | 185 | 3999 | 134790 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | FTL CL E G H | 2512 | 606159 | Neuroferritinopathy | 606159 | C1853578 | OMIM | 1 | | 185 | 3999 | 134790 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | FTL CL E G H | 2512 | 606159 | Neuroferritinopathy | 606159 | C1853578 | OMIM | 1 | | 185 | 3999 | 134790 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | FUS CL E G H | 2521 | 300605 | Juvenile amyotrophic lateral sclerosis | | CN239582 | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | FUS CL E G H | 2521 | 300605 | Juvenile amyotrophic lateral sclerosis | | CN239582 | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | FUS CL E G H | 2521 | 300605 | Juvenile amyotrophic lateral sclerosis | | CN239582 | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 158 | 3951 | 606829 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 158 | 3951 | 606829 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 158 | 3951 | 606829 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 158 | 3951 | 606829 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 158 | 3951 | 606829 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 158 | 3951 | 606829 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 777 | 4137 | 605379 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 777 | 4137 | 605379 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 777 | 4137 | 605379 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | GBA2 CL E G H | 57704 | 614409 | Spastic paraplegia 46, autosomal recessive | 614409 | C2828721 | OMIM | 1 | | 355 | 18986 | 609471 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | GBA2 CL E G H | 57704 | 614409 | Spastic paraplegia 46, autosomal recessive | 614409 | C2828721 | OMIM | 1 | | 355 | 18986 | 609471 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | GBA2 CL E G H | 57704 | 614409 | Spastic paraplegia 46, autosomal recessive | 614409 | C2828721 | OMIM | 1 | | 355 | 18986 | 609471 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | GFPT1 CL E G H | 2673 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 524 | 4241 | 138292 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | GFPT1 CL E G H | 2673 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 524 | 4241 | 138292 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | GFPT1 CL E G H | 2673 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 524 | 4241 | 138292 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | GJA1 CL E G H | 2697 | 164200 | Oculodentodigital dysplasia | 164200 | C0812437 | OMIM | 1 | | 272 | 4274 | 121014 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | GJA1 CL E G H | 2697 | 164200 | Oculodentodigital dysplasia | 164200 | C0812437 | OMIM | 1 | | 272 | 4274 | 121014 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | GJA1 CL E G H | 2697 | 164200 | Oculodentodigital dysplasia | 164200 | C0812437 | OMIM | 1 | | 272 | 4274 | 121014 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 860 | 4283 | 304040 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 860 | 4283 | 304040 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 860 | 4283 | 304040 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | GJC2 CL E G H | 57165 | 320401 | | | | ORPHA | 1 | | 323 | 17494 | 608803 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | GJC2 CL E G H | 57165 | 320401 | | | | ORPHA | 1 | | 323 | 17494 | 608803 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | GJC2 CL E G H | 57165 | 320401 | | | | ORPHA | 1 | | 323 | 17494 | 608803 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 323 | 17494 | 608803 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 323 | 17494 | 608803 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 323 | 17494 | 608803 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | GJC2 CL E G H | 57165 | 613206 | Spastic paraplegia 44, autosomal recessive | 613206 | C2750784 | OMIM | 1 | | 323 | 17494 | 608803 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | GJC2 CL E G H | 57165 | 613206 | Spastic paraplegia 44, autosomal recessive | 613206 | C2750784 | OMIM | 1 | | 323 | 17494 | 608803 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | GJC2 CL E G H | 57165 | 613206 | Spastic paraplegia 44, autosomal recessive | 613206 | C2750784 | OMIM | 1 | | 323 | 17494 | 608803 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | GLRX5 CL E G H | 51218 | 616859 | Spasticity, childhood-onset, with hyperglycinemia | 616859 | C4225178 | OMIM | 1 | | 111 | 20134 | 609588 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | GLRX5 CL E G H | 51218 | 616859 | Spasticity, childhood-onset, with hyperglycinemia | 616859 | C4225178 | OMIM | 1 | | 111 | 20134 | 609588 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | GLRX5 CL E G H | 51218 | 616859 | Spasticity, childhood-onset, with hyperglycinemia | 616859 | C4225178 | OMIM | 1 | | 111 | 20134 | 609588 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | GNS CL E G H | 2799 | 252940 | Mucopolysaccharidosis, MPS-III-D | 252940 | C0086650 | OMIM | 1 | | 616 | 4422 | 607664 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | GNS CL E G H | 2799 | 252940 | Mucopolysaccharidosis, MPS-III-D | 252940 | C0086650 | OMIM | 1 | | 616 | 4422 | 607664 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | GNS CL E G H | 2799 | 252940 | Mucopolysaccharidosis, MPS-III-D | 252940 | C0086650 | OMIM | 1 | | 616 | 4422 | 607664 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | GOSR2 CL E G H | 9570 | 614018 | Epilepsy, progressive myoclonic 6 | 614018 | C3279627 | OMIM | 1 | | 320 | 4431 | 604027 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | GOSR2 CL E G H | 9570 | 614018 | Epilepsy, progressive myoclonic 6 | 614018 | C3279627 | OMIM | 1 | | 320 | 4431 | 604027 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | GOSR2 CL E G H | 9570 | 614018 | Epilepsy, progressive myoclonic 6 | 614018 | C3279627 | OMIM | 1 | | 320 | 4431 | 604027 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 527 | 4446 | 603048 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 527 | 4446 | 603048 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 527 | 4446 | 603048 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | GPT2 CL E G H | 84706 | 477673 | ANO5-Related Disorders | | CN239193 | ORPHA | 1 | | 109 | 18062 | 138210 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | GPT2 CL E G H | 84706 | 477673 | ANO5-Related Disorders | | CN239193 | ORPHA | 1 | | 109 | 18062 | 138210 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | GPT2 CL E G H | 84706 | 477673 | ANO5-Related Disorders | | CN239193 | ORPHA | 1 | | 109 | 18062 | 138210 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | GPT2 CL E G H | 84706 | 616281 | Mental retardation, autosomal recessive 49 | 616281 | C4225388 | OMIM | 1 | | 109 | 18062 | 138210 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | GPT2 CL E G H | 84706 | 616281 | Mental retardation, autosomal recessive 49 | 616281 | C4225388 | OMIM | 1 | | 109 | 18062 | 138210 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | GPT2 CL E G H | 84706 | 616281 | Mental retardation, autosomal recessive 49 | 616281 | C4225388 | OMIM | 1 | | 109 | 18062 | 138210 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | GRID2 CL E G H | 2895 | 616204 | Spinocerebellar ataxia, autosomal recessive 18 | 616204 | C4015505 | OMIM | 1 | | 241 | 4576 | 602368 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | GRID2 CL E G H | 2895 | 616204 | Spinocerebellar ataxia, autosomal recessive 18 | 616204 | C4015505 | OMIM | 1 | | 241 | 4576 | 602368 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | GRID2 CL E G H | 2895 | 616204 | Spinocerebellar ataxia, autosomal recessive 18 | 616204 | C4015505 | OMIM | 1 | | 241 | 4576 | 602368 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | GRM1 CL E G H | 2911 | 617691 | SPINOCEREBELLAR ATAXIA 44 | 617691 | C4521563 | OMIM | 1 | | 298 | 4593 | 604473 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | GRM1 CL E G H | 2911 | 617691 | SPINOCEREBELLAR ATAXIA 44 | 617691 | C4521563 | OMIM | 1 | | 298 | 4593 | 604473 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | GRM1 CL E G H | 2911 | 617691 | SPINOCEREBELLAR ATAXIA 44 | 617691 | C4521563 | OMIM | 1 | | 298 | 4593 | 604473 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | GRM1 CL E G H | 2911 | 614831 | Spinocerebellar ataxia, autosomal recessive 13 | 614831 | C3553816 | OMIM | 1 | | 298 | 4593 | 604473 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | GRM1 CL E G H | 2911 | 614831 | Spinocerebellar ataxia, autosomal recessive 13 | 614831 | C3553816 | OMIM | 1 | | 298 | 4593 | 604473 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | GRM1 CL E G H | 2911 | 614831 | Spinocerebellar ataxia, autosomal recessive 13 | 614831 | C3553816 | OMIM | 1 | | 298 | 4593 | 604473 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | GSS CL E G H | 2937 | 266130 | Gluthathione synthetase deficiency | 266130 | C0398746 | OMIM | 1 | | 211 | 4624 | 601002 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | GSS CL E G H | 2937 | 266130 | Gluthathione synthetase deficiency | 266130 | C0398746 | OMIM | 1 | | 211 | 4624 | 601002 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | GSS CL E G H | 2937 | 266130 | Gluthathione synthetase deficiency | 266130 | C0398746 | OMIM | 1 | | 211 | 4624 | 601002 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | HACE1 CL E G H | 57531 | 464282 | | | | ORPHA | 1 | | 227 | 21033 | 610876 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | HACE1 CL E G H | 57531 | 464282 | | | | ORPHA | 1 | | 227 | 21033 | 610876 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | HACE1 CL E G H | 57531 | 464282 | | | | ORPHA | 1 | | 227 | 21033 | 610876 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | HEPACAM CL E G H | 220296 | 613925 | Megalencephalic leukoencephalopathy with subcortical cysts 2a | 613925 | C3151355 | OMIM | 1 | | 304 | 26361 | 611642 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | HEPACAM CL E G H | 220296 | 613925 | Megalencephalic leukoencephalopathy with subcortical cysts 2a | 613925 | C3151355 | OMIM | 1 | | 304 | 26361 | 611642 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | HEPACAM CL E G H | 220296 | 613925 | Megalencephalic leukoencephalopathy with subcortical cysts 2a | 613925 | C3151355 | OMIM | 1 | | 304 | 26361 | 611642 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | HEXB CL E G H | 3074 | 268800 | Sandhoff disease | 268800 | C0036161 | OMIM | 1 | | 628 | 4879 | 606873 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | HEXB CL E G H | 3074 | 268800 | Sandhoff disease | 268800 | C0036161 | OMIM | 1 | | 628 | 4879 | 606873 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | HEXB CL E G H | 3074 | 268800 | Sandhoff disease | 268800 | C0036161 | OMIM | 1 | | 628 | 4879 | 606873 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | HOXB1 CL E G H | 3211 | 614744 | Hereditary congenital facial paresis 3 | 614744 | C3553625 | OMIM | 1 | | 44 | 5111 | 142968 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | HOXB1 CL E G H | 3211 | 614744 | Hereditary congenital facial paresis 3 | 614744 | C3553625 | OMIM | 1 | | 44 | 5111 | 142968 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | HOXB1 CL E G H | 3211 | 614744 | Hereditary congenital facial paresis 3 | 614744 | C3553625 | OMIM | 1 | | 44 | 5111 | 142968 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | HPCA CL E G H | 3208 | 99657 | | | | ORPHA | 1 | | 50 | 5144 | 142622 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | HPCA CL E G H | 3208 | 99657 | | | | ORPHA | 1 | | 50 | 5144 | 142622 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | HPCA CL E G H | 3208 | 99657 | | | | ORPHA | 1 | | 50 | 5144 | 142622 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | HPCA CL E G H | 3208 | 224500 | Dystonia 2, torsion, autosomal recessive | 224500 | C1857093 | OMIM | 1 | | 50 | 5144 | 142622 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | HPCA CL E G H | 3208 | 224500 | Dystonia 2, torsion, autosomal recessive | 224500 | C1857093 | OMIM | 1 | | 50 | 5144 | 142622 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | HPCA CL E G H | 3208 | 224500 | Dystonia 2, torsion, autosomal recessive | 224500 | C1857093 | OMIM | 1 | | 50 | 5144 | 142622 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | HPRT1 CL E G H | 3251 | 300322 | Lesch-Nyhan syndrome | 300322 | C0023374 | OMIM | 1 | | 354 | 5157 | 308000 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | HPRT1 CL E G H | 3251 | 300322 | Lesch-Nyhan syndrome | 300322 | C0023374 | OMIM | 1 | | 354 | 5157 | 308000 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | HPRT1 CL E G H | 3251 | 300322 | Lesch-Nyhan syndrome | 300322 | C0023374 | OMIM | 1 | | 354 | 5157 | 308000 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 256 | 4800 | 300256 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 256 | 4800 | 300256 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 256 | 4800 | 300256 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | HTRA1 CL E G H | 5654 | 600142 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | 600142 | C1838577 | OMIM | 1 | | 285 | 9476 | 602194 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | HTRA1 CL E G H | 5654 | 600142 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | 600142 | C1838577 | OMIM | 1 | | 285 | 9476 | 602194 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | HTRA1 CL E G H | 5654 | 600142 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | 600142 | C1838577 | OMIM | 1 | | 285 | 9476 | 602194 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | IFRD1 CL E G H | 3475 | 98771 | | | | ORPHA | 1 | | 69 | 5456 | 603502 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | IFRD1 CL E G H | 3475 | 98771 | | | | ORPHA | 1 | | 69 | 5456 | 603502 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | IFRD1 CL E G H | 3475 | 98771 | | | | ORPHA | 1 | | 69 | 5456 | 603502 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | INPP5K CL E G H | 51763 | 559 | | | | ORPHA | 1 | | 187 | 33882 | 607875 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | INPP5K CL E G H | 51763 | 559 | | | | ORPHA | 1 | | 187 | 33882 | 607875 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | INPP5K CL E G H | 51763 | 559 | | | | ORPHA | 1 | | 187 | 33882 | 607875 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | IRF2BPL CL E G H | 64207 | 618088 | NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES | 618088 | CN252701 | OMIM | 1 | | 312 | 14282 | 611720 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | IRF2BPL CL E G H | 64207 | 618088 | NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES | 618088 | CN252701 | OMIM | 1 | | 312 | 14282 | 611720 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | IRF2BPL CL E G H | 64207 | 618088 | NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES | 618088 | CN252701 | OMIM | 1 | | 312 | 14282 | 611720 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ITPR1 CL E G H | 3708 | 606658 | Spinocerebellar ataxia 15 | 606658 | C1847725 | OMIM | 1 | | 1563 | 6180 | 147265 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ITPR1 CL E G H | 3708 | 606658 | Spinocerebellar ataxia 15 | 606658 | C1847725 | OMIM | 1 | | 1563 | 6180 | 147265 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ITPR1 CL E G H | 3708 | 606658 | Spinocerebellar ataxia 15 | 606658 | C1847725 | OMIM | 1 | | 1563 | 6180 | 147265 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ITPR1 CL E G H | 3708 | 117360 | Spinocerebellar ataxia 29 | 117360 | C1861732 | OMIM | 1 | | 1563 | 6180 | 147265 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ITPR1 CL E G H | 3708 | 117360 | Spinocerebellar ataxia 29 | 117360 | C1861732 | OMIM | 1 | | 1563 | 6180 | 147265 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ITPR1 CL E G H | 3708 | 117360 | Spinocerebellar ataxia 29 | 117360 | C1861732 | OMIM | 1 | | 1563 | 6180 | 147265 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 176 | 14203 | 605268 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 176 | 14203 | 605268 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 176 | 14203 | 605268 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | KAT6B CL E G H | 23522 | 648 | | | | ORPHA | 1 | | 1003 | 17582 | 605880 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | KAT6B CL E G H | 23522 | 648 | | | | ORPHA | 1 | | 1003 | 17582 | 605880 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | KAT6B CL E G H | 23522 | 648 | | | | ORPHA | 1 | | 1003 | 17582 | 605880 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | KCNA1 CL E G H | 3736 | 37612 | | | | ORPHA | 1 | | 575 | 6218 | 176260 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | KCNA1 CL E G H | 3736 | 972 | | | | ORPHA | 1 | | 575 | 6218 | 176260 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | KCNA1 CL E G H | 3736 | 37612 | | | | ORPHA | 1 | | 575 | 6218 | 176260 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | KCNA1 CL E G H | 3736 | 972 | | | | ORPHA | 1 | | 575 | 6218 | 176260 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | KCNA1 CL E G H | 3736 | 972 | | | | ORPHA | 1 | | 575 | 6218 | 176260 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | KCNA1 CL E G H | 3736 | 37612 | | | | ORPHA | 1 | | 575 | 6218 | 176260 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | KCNA1 CL E G H | 3736 | 160120 | Episodic ataxia type 1 | 160120 | C1719788 | OMIM | 1 | | 575 | 6218 | 176260 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | KCNA1 CL E G H | 3736 | 160120 | Episodic ataxia type 1 | 160120 | C1719788 | OMIM | 1 | | 575 | 6218 | 176260 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | KCNA1 CL E G H | 3736 | 160120 | Episodic ataxia type 1 | 160120 | C1719788 | OMIM | 1 | | 575 | 6218 | 176260 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | KCNA4 CL E G H | 3739 | 618284 | 618284 | 618284 | | OMIM | 1 | | 54 | 6222 | 176266 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | KCNA4 CL E G H | 3739 | 618284 | 618284 | 618284 | | OMIM | 1 | | 54 | 6222 | 176266 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | KCNA4 CL E G H | 3739 | 618284 | 618284 | 618284 | | OMIM | 1 | | 54 | 6222 | 176266 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 1 | | 311 | 6235 | 176264 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 1 | | 311 | 6235 | 176264 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 1 | | 311 | 6235 | 176264 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | KCNC3 CL E G H | 3748 | 605259 | Spinocerebellar ataxia 13 | 605259 | C1854488 | OMIM | 1 | | 311 | 6235 | 176264 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | KCNC3 CL E G H | 3748 | 605259 | Spinocerebellar ataxia 13 | 605259 | C1854488 | OMIM | 1 | | 311 | 6235 | 176264 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | KCNC3 CL E G H | 3748 | 605259 | Spinocerebellar ataxia 13 | 605259 | C1854488 | OMIM | 1 | | 311 | 6235 | 176264 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 467 | 6239 | 605411 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 467 | 6239 | 605411 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 467 | 6239 | 605411 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | KCTD17 CL E G H | 79734 | 616398 | Dystonia 26, myoclonic | 616398 | C4225341 | OMIM | 1 | | 144 | 25705 | 616386 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | KCTD17 CL E G H | 79734 | 616398 | Dystonia 26, myoclonic | 616398 | C4225341 | OMIM | 1 | | 144 | 25705 | 616386 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | KCTD17 CL E G H | 79734 | 616398 | Dystonia 26, myoclonic | 616398 | C4225341 | OMIM | 1 | | 144 | 25705 | 616386 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | KCTD7 CL E G H | 154881 | 263516 | | | | ORPHA | 1 | | 427 | 21957 | 611725 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | KCTD7 CL E G H | 154881 | 263516 | | | | ORPHA | 1 | | 427 | 21957 | 611725 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | KCTD7 CL E G H | 154881 | 263516 | | | | ORPHA | 1 | | 427 | 21957 | 611725 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | KCTD7 CL E G H | 154881 | 611726 | Epilepsy, progressive myoclonic 3 | 611726 | C2673257 | OMIM | 1 | | 427 | 21957 | 611725 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | KCTD7 CL E G H | 154881 | 611726 | Epilepsy, progressive myoclonic 3 | 611726 | C2673257 | OMIM | 1 | | 427 | 21957 | 611725 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | KCTD7 CL E G H | 154881 | 611726 | Epilepsy, progressive myoclonic 3 | 611726 | C2673257 | OMIM | 1 | | 427 | 21957 | 611725 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | KIF1C CL E G H | 10749 | 397946 | | | | ORPHA | 1 | | 579 | 6317 | 603060 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | KIF1C CL E G H | 10749 | 397946 | | | | ORPHA | 1 | | 579 | 6317 | 603060 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | KIF1C CL E G H | 10749 | 397946 | | | | ORPHA | 1 | | 579 | 6317 | 603060 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | KIF1C CL E G H | 10749 | 611302 | Ataxia, spastic, 2, autosomal recessive | 611302 | C1969796 | OMIM | 1 | | 579 | 6317 | 603060 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | KIF1C CL E G H | 10749 | 611302 | Ataxia, spastic, 2, autosomal recessive | 611302 | C1969796 | OMIM | 1 | | 579 | 6317 | 603060 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | KIF1C CL E G H | 10749 | 611302 | Ataxia, spastic, 2, autosomal recessive | 611302 | C1969796 | OMIM | 1 | | 579 | 6317 | 603060 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | KLC2 CL E G H | 64837 | 320406 | | | | ORPHA | 1 | | 104 | 20716 | 611729 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | KLC2 CL E G H | 64837 | 320406 | | | | ORPHA | 1 | | 104 | 20716 | 611729 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | KLC2 CL E G H | 64837 | 320406 | | | | ORPHA | 1 | | 104 | 20716 | 611729 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | KLC2 CL E G H | 64837 | 609541 | Spastic paraplegia, optic atrophy, and neuropathy | 609541 | C1836010 | OMIM | 1 | | 104 | 20716 | 611729 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | KLC2 CL E G H | 64837 | 609541 | Spastic paraplegia, optic atrophy, and neuropathy | 609541 | C1836010 | OMIM | 1 | | 104 | 20716 | 611729 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | KLC2 CL E G H | 64837 | 609541 | Spastic paraplegia, optic atrophy, and neuropathy | 609541 | C1836010 | OMIM | 1 | | 104 | 20716 | 611729 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | KMT2B CL E G H | 9757 | 617284 | Dystonia 28, childhood-onset | 617284 | C4310633 | OMIM | 1 | | 1303 | 15840 | 606834 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | KMT2B CL E G H | 9757 | 617284 | Dystonia 28, childhood-onset | 617284 | C4310633 | OMIM | 1 | | 1303 | 15840 | 606834 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | KMT2B CL E G H | 9757 | 617284 | Dystonia 28, childhood-onset | 617284 | C4310633 | OMIM | 1 | | 1303 | 15840 | 606834 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | KRAS CL E G H | 3845 | 648 | | | | ORPHA | 1 | | 480 | 6407 | 190070 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | KRAS CL E G H | 3845 | 648 | | | | ORPHA | 1 | | 480 | 6407 | 190070 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | KRAS CL E G H | 3845 | 648 | | | | ORPHA | 1 | | 480 | 6407 | 190070 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | LIPT1 CL E G H | 51601 | 255241 | | | | ORPHA | 1 | | 124 | 29569 | 610284 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | LIPT1 CL E G H | 51601 | 255241 | | | | ORPHA | 1 | | 124 | 29569 | 610284 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | LIPT1 CL E G H | 51601 | 255241 | | | | ORPHA | 1 | | 124 | 29569 | 610284 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | LZTR1 CL E G H | 8216 | 648 | | | | ORPHA | 1 | | 2859 | 6742 | 600574 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | LZTR1 CL E G H | 8216 | 648 | | | | ORPHA | 1 | | 2859 | 6742 | 600574 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | LZTR1 CL E G H | 8216 | 648 | | | | ORPHA | 1 | | 2859 | 6742 | 600574 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MAN2B1 CL E G H | 4125 | 248500 | Deficiency of alpha-mannosidase | 248500 | C0024748 | OMIM | 1 | | 1351 | 6826 | 609458 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MAN2B1 CL E G H | 4125 | 248500 | Deficiency of alpha-mannosidase | 248500 | C0024748 | OMIM | 1 | | 1351 | 6826 | 609458 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MAN2B1 CL E G H | 4125 | 248500 | Deficiency of alpha-mannosidase | 248500 | C0024748 | OMIM | 1 | | 1351 | 6826 | 609458 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MATR3 CL E G H | 9782 | 600 | | | | ORPHA | 1 | | 450 | 6912 | 164015 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MATR3 CL E G H | 9782 | 600 | | | | ORPHA | 1 | | 450 | 6912 | 164015 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MATR3 CL E G H | 9782 | 600 | | | | ORPHA | 1 | | 450 | 6912 | 164015 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MATR3 CL E G H | 9782 | 606070 | Amyotrophic lateral sclerosis 21 | 606070 | C3807521 | OMIM | 1 | | 450 | 6912 | 164015 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MATR3 CL E G H | 9782 | 606070 | Amyotrophic lateral sclerosis 21 | 606070 | C3807521 | OMIM | 1 | | 450 | 6912 | 164015 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MATR3 CL E G H | 9782 | 606070 | Amyotrophic lateral sclerosis 21 | 606070 | C3807521 | OMIM | 1 | | 450 | 6912 | 164015 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 151 | 19691 | 608205 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 151 | 19691 | 608205 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 151 | 19691 | 608205 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MED13L CL E G H | 23389 | 616789 | Mental retardation and distinctive facial features with or without cardiac defects | 616789 | C4225208 | OMIM | 1 | | 1047 | 22962 | 608771 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MED13L CL E G H | 23389 | 616789 | Mental retardation and distinctive facial features with or without cardiac defects | 616789 | C4225208 | OMIM | 1 | | 1047 | 22962 | 608771 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MED13L CL E G H | 23389 | 616789 | Mental retardation and distinctive facial features with or without cardiac defects | 616789 | C4225208 | OMIM | 1 | | 1047 | 22962 | 608771 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MICOS13 CL E G H | 125988 | 67047 | | | | ORPHA | 1 | | 34 | 33702 | 616658 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MICOS13 CL E G H | 125988 | 67047 | | | | ORPHA | 1 | | 34 | 33702 | 616658 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MICOS13 CL E G H | 125988 | 67047 | | | | ORPHA | 1 | | 34 | 33702 | 616658 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | | 577 | 7154 | 120520 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | | 577 | 7154 | 120520 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | | 577 | 7154 | 120520 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 1 | | 577 | 7154 | 120520 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 1 | | 577 | 7154 | 120520 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 1 | | 577 | 7154 | 120520 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MMUT CL E G H | 4594 | 79312 | | | | ORPHA | 1 | | 896 | 7526 | 609058 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MMUT CL E G H | 4594 | 79312 | | | | ORPHA | 1 | | 896 | 7526 | 609058 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MMUT CL E G H | 4594 | 79312 | | | | ORPHA | 1 | | 896 | 7526 | 609058 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 1 | | 1911 | 7230 | 600814 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 1 | | 1911 | 7230 | 600814 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 1 | | 1911 | 7230 | 600814 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MRE11 CL E G H | 4361 | 604391 | Ataxia-telangiectasia-like disorder 1 | 604391 | C1858391 | OMIM | 1 | | 1911 | 7230 | 600814 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MRE11 CL E G H | 4361 | 604391 | Ataxia-telangiectasia-like disorder 1 | 604391 | C1858391 | OMIM | 1 | | 1911 | 7230 | 600814 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MRE11 CL E G H | 4361 | 604391 | Ataxia-telangiectasia-like disorder 1 | 604391 | C1858391 | OMIM | 1 | | 1911 | 7230 | 600814 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 1 | | | 7414 | 516060 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 1 | | | 7414 | 516060 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 1 | | | 7414 | 516060 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MTFMT CL E G H | 123263 | 255241 | | | | ORPHA | 1 | | 243 | 29666 | 611766 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MTFMT CL E G H | 123263 | 255241 | | | | ORPHA | 1 | | 243 | 29666 | 611766 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MTFMT CL E G H | 123263 | 255241 | | | | ORPHA | 1 | | 243 | 29666 | 611766 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MTPAP CL E G H | 55149 | 254343 | | | | ORPHA | 1 | | 346 | 25532 | 613669 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MTPAP CL E G H | 55149 | 254343 | | | | ORPHA | 1 | | 346 | 25532 | 613669 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MTPAP CL E G H | 55149 | 254343 | | | | ORPHA | 1 | | 346 | 25532 | 613669 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MTPAP CL E G H | 55149 | 613672 | Ataxia, spastic, 4, autosomal recessive | 613672 | C3150925 | OMIM | 1 | | 346 | 25532 | 613669 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MTPAP CL E G H | 55149 | 613672 | Ataxia, spastic, 4, autosomal recessive | 613672 | C3150925 | OMIM | 1 | | 346 | 25532 | 613669 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MTPAP CL E G H | 55149 | 613672 | Ataxia, spastic, 4, autosomal recessive | 613672 | C3150925 | OMIM | 1 | | 346 | 25532 | 613669 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MYOT CL E G H | 9499 | 98911 | | | | ORPHA | 1 | | 372 | 12399 | 604103 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MYOT CL E G H | 9499 | 98911 | | | | ORPHA | 1 | | 372 | 12399 | 604103 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MYOT CL E G H | 9499 | 98911 | | | | ORPHA | 1 | | 372 | 12399 | 604103 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NDUFA10 CL E G H | 4705 | 255241 | | | | ORPHA | 1 | | 421 | 7684 | 603835 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NDUFA10 CL E G H | 4705 | 255241 | | | | ORPHA | 1 | | 421 | 7684 | 603835 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NDUFA10 CL E G H | 4705 | 255241 | | | | ORPHA | 1 | | 421 | 7684 | 603835 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NDUFA12 CL E G H | 55967 | 255241 | | | | ORPHA | 1 | | 92 | 23987 | 614530 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NDUFA12 CL E G H | 55967 | 255241 | | | | ORPHA | 1 | | 92 | 23987 | 614530 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NDUFA12 CL E G H | 55967 | 255241 | | | | ORPHA | 1 | | 92 | 23987 | 614530 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NDUFA13 CL E G H | 51079 | 255241 | | | | ORPHA | 1 | | 65 | 17194 | 609435 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NDUFA13 CL E G H | 51079 | 255241 | | | | ORPHA | 1 | | 65 | 17194 | 609435 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NDUFA13 CL E G H | 51079 | 255241 | | | | ORPHA | 1 | | 65 | 17194 | 609435 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NDUFA2 CL E G H | 4695 | 255241 | | | | ORPHA | 1 | | 95 | 7685 | 602137 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NDUFA2 CL E G H | 4695 | 255241 | | | | ORPHA | 1 | | 95 | 7685 | 602137 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NDUFA2 CL E G H | 4695 | 255241 | | | | ORPHA | 1 | | 95 | 7685 | 602137 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NDUFA4 CL E G H | 4697 | 255241 | | | | ORPHA | 1 | | 96 | 7687 | 603833 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NDUFA4 CL E G H | 4697 | 255241 | | | | ORPHA | 1 | | 96 | 7687 | 603833 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NDUFA4 CL E G H | 4697 | 255241 | | | | ORPHA | 1 | | 96 | 7687 | 603833 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NDUFA9 CL E G H | 4704 | 255241 | | | | ORPHA | 1 | | 235 | 7693 | 603834 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NDUFA9 CL E G H | 4704 | 255241 | | | | ORPHA | 1 | | 235 | 7693 | 603834 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NDUFA9 CL E G H | 4704 | 255241 | | | | ORPHA | 1 | | 235 | 7693 | 603834 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NDUFA9 CL E G H | 4704 | 618247 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 | 618247 | | OMIM | 1 | | 235 | 7693 | 603834 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NDUFA9 CL E G H | 4704 | 618247 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 | 618247 | | OMIM | 1 | | 235 | 7693 | 603834 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NDUFA9 CL E G H | 4704 | 618247 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 | 618247 | | OMIM | 1 | | 235 | 7693 | 603834 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NDUFAF2 CL E G H | 91942 | 255241 | | | | ORPHA | 1 | | 132 | 28086 | 609653 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NDUFAF2 CL E G H | 91942 | 255241 | | | | ORPHA | 1 | | 132 | 28086 | 609653 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NDUFAF2 CL E G H | 91942 | 255241 | | | | ORPHA | 1 | | 132 | 28086 | 609653 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NDUFAF5 CL E G H | 79133 | 255241 | | | | ORPHA | 1 | | 383 | 15899 | 612360 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NDUFAF5 CL E G H | 79133 | 255241 | | | | ORPHA | 1 | | 383 | 15899 | 612360 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NDUFAF5 CL E G H | 79133 | 255241 | | | | ORPHA | 1 | | 383 | 15899 | 612360 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NDUFAF5 CL E G H | 79133 | 618238 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 | 618238 | | OMIM | 1 | | 383 | 15899 | 612360 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NDUFAF5 CL E G H | 79133 | 618238 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 | 618238 | | OMIM | 1 | | 383 | 15899 | 612360 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NDUFAF5 CL E G H | 79133 | 618238 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 | 618238 | | OMIM | 1 | | 383 | 15899 | 612360 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NDUFAF6 CL E G H | 137682 | 255241 | | | | ORPHA | 1 | | 281 | 28625 | 612392 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NDUFAF6 CL E G H | 137682 | 255241 | | | | ORPHA | 1 | | 281 | 28625 | 612392 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NDUFAF6 CL E G H | 137682 | 255241 | | | | ORPHA | 1 | | 281 | 28625 | 612392 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NDUFAF6 CL E G H | 137682 | 618239 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 | 618239 | | OMIM | 1 | | 281 | 28625 | 612392 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NDUFAF6 CL E G H | 137682 | 618239 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 | 618239 | | OMIM | 1 | | 281 | 28625 | 612392 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NDUFAF6 CL E G H | 137682 | 618239 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 | 618239 | | OMIM | 1 | | 281 | 28625 | 612392 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NDUFS1 CL E G H | 4719 | 255241 | | | | ORPHA | 1 | | 424 | 7707 | 157655 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NDUFS1 CL E G H | 4719 | 255241 | | | | ORPHA | 1 | | 424 | 7707 | 157655 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NDUFS1 CL E G H | 4719 | 255241 | | | | ORPHA | 1 | | 424 | 7707 | 157655 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NDUFS2 CL E G H | 4720 | 255241 | | | | ORPHA | 1 | | 247 | 7708 | 602985 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NDUFS2 CL E G H | 4720 | 255241 | | | | ORPHA | 1 | | 247 | 7708 | 602985 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NDUFS2 CL E G H | 4720 | 255241 | | | | ORPHA | 1 | | 247 | 7708 | 602985 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NDUFS3 CL E G H | 4722 | 255241 | | | | ORPHA | 1 | | 147 | 7710 | 603846 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NDUFS3 CL E G H | 4722 | 255241 | | | | ORPHA | 1 | | 147 | 7710 | 603846 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NDUFS3 CL E G H | 4722 | 255241 | | | | ORPHA | 1 | | 147 | 7710 | 603846 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NDUFS4 CL E G H | 4724 | 255241 | | | | ORPHA | 1 | | 139 | 7711 | 602694 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NDUFS4 CL E G H | 4724 | 255241 | | | | ORPHA | 1 | | 139 | 7711 | 602694 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NDUFS4 CL E G H | 4724 | 255241 | | | | ORPHA | 1 | | 139 | 7711 | 602694 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NDUFS7 CL E G H | 374291 | 255241 | | | | ORPHA | 1 | | 215 | 7714 | 601825 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NDUFS7 CL E G H | 374291 | 255241 | | | | ORPHA | 1 | | 215 | 7714 | 601825 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NDUFS7 CL E G H | 374291 | 255241 | | | | ORPHA | 1 | | 215 | 7714 | 601825 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NDUFS7 CL E G H | 374291 | 618224 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | 618224 | | OMIM | 1 | | 215 | 7714 | 601825 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NDUFS7 CL E G H | 374291 | 618224 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | 618224 | | OMIM | 1 | | 215 | 7714 | 601825 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NDUFS7 CL E G H | 374291 | 618224 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | 618224 | | OMIM | 1 | | 215 | 7714 | 601825 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NDUFS8 CL E G H | 4728 | 255241 | | | | ORPHA | 1 | | 129 | 7715 | 602141 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NDUFS8 CL E G H | 4728 | 255241 | | | | ORPHA | 1 | | 129 | 7715 | 602141 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NDUFS8 CL E G H | 4728 | 255241 | | | | ORPHA | 1 | | 129 | 7715 | 602141 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NDUFS8 CL E G H | 4728 | 618222 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 | 618222 | | OMIM | 1 | | 129 | 7715 | 602141 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NDUFS8 CL E G H | 4728 | 618222 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 | 618222 | | OMIM | 1 | | 129 | 7715 | 602141 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NDUFS8 CL E G H | 4728 | 618222 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 | 618222 | | OMIM | 1 | | 129 | 7715 | 602141 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NDUFV1 CL E G H | 4723 | 255241 | | | | ORPHA | 1 | | 315 | 7716 | 161015 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NDUFV1 CL E G H | 4723 | 255241 | | | | ORPHA | 1 | | 315 | 7716 | 161015 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NDUFV1 CL E G H | 4723 | 255241 | | | | ORPHA | 1 | | 315 | 7716 | 161015 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NDUFV2 CL E G H | 4729 | 255241 | | | | ORPHA | 1 | | 229 | 7717 | 600532 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NDUFV2 CL E G H | 4729 | 255241 | | | | ORPHA | 1 | | 229 | 7717 | 600532 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NDUFV2 CL E G H | 4729 | 255241 | | | | ORPHA | 1 | | 229 | 7717 | 600532 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NKX2-1 CL E G H | 7080 | 610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | 610978 | C1970269 | OMIM | 1 | | 317 | 11825 | 600635 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NKX2-1 CL E G H | 7080 | 610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | 610978 | C1970269 | OMIM | 1 | | 317 | 11825 | 600635 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NKX2-1 CL E G H | 7080 | 610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | 610978 | C1970269 | OMIM | 1 | | 317 | 11825 | 600635 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NKX6-2 CL E G H | 84504 | 527497 | | | | ORPHA | 1 | | 233 | 19321 | 605955 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NKX6-2 CL E G H | 84504 | 527497 | | | | ORPHA | 1 | | 233 | 19321 | 605955 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NKX6-2 CL E G H | 84504 | 527497 | | | | ORPHA | 1 | | 233 | 19321 | 605955 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NKX6-2 CL E G H | 84504 | 617560 | SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY | 617560 | C4479653 | OMIM | 1 | | 233 | 19321 | 605955 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NKX6-2 CL E G H | 84504 | 617560 | SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY | 617560 | C4479653 | OMIM | 1 | | 233 | 19321 | 605955 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NKX6-2 CL E G H | 84504 | 617560 | SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY | 617560 | C4479653 | OMIM | 1 | | 233 | 19321 | 605955 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NOP56 CL E G H | 10528 | 276198 | | | | ORPHA | 1 | | 67 | 15911 | 614154 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NOP56 CL E G H | 10528 | 276198 | | | | ORPHA | 1 | | 67 | 15911 | 614154 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NOP56 CL E G H | 10528 | 276198 | | | | ORPHA | 1 | | 67 | 15911 | 614154 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NPC1 CL E G H | 4864 | 257220 | Niemann-Pick disease type C1 | 257220 | C3179455 | OMIM | 1 | | 2109 | 7897 | 607623 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NPC1 CL E G H | 4864 | 257220 | Niemann-Pick disease type C1 | 257220 | C3179455 | OMIM | 1 | | 2109 | 7897 | 607623 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NPC1 CL E G H | 4864 | 257220 | Niemann-Pick disease type C1 | 257220 | C3179455 | OMIM | 1 | | 2109 | 7897 | 607623 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NPC2 CL E G H | 10577 | 607625 | Niemann-Pick disease type C2 | 607625 | C1843366 | OMIM | 1 | | 232 | 14537 | 601015 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NPC2 CL E G H | 10577 | 607625 | Niemann-Pick disease type C2 | 607625 | C1843366 | OMIM | 1 | | 232 | 14537 | 601015 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NPC2 CL E G H | 10577 | 607625 | Niemann-Pick disease type C2 | 607625 | C1843366 | OMIM | 1 | | 232 | 14537 | 601015 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 143 | 7981 | 601828 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 143 | 7981 | 601828 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 143 | 7981 | 601828 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NRAS CL E G H | 4893 | 648 | | | | ORPHA | 1 | | 281 | 7989 | 164790 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NRAS CL E G H | 4893 | 648 | | | | ORPHA | 1 | | 281 | 7989 | 164790 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NRAS CL E G H | 4893 | 648 | | | | ORPHA | 1 | | 281 | 7989 | 164790 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NSUN2 CL E G H | 54888 | 611091 | Mental retardation, autosomal recessive 5 | 611091 | C1970199 | OMIM | 1 | | 566 | 25994 | 610916 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NSUN2 CL E G H | 54888 | 611091 | Mental retardation, autosomal recessive 5 | 611091 | C1970199 | OMIM | 1 | | 566 | 25994 | 610916 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NSUN2 CL E G H | 54888 | 611091 | Mental retardation, autosomal recessive 5 | 611091 | C1970199 | OMIM | 1 | | 566 | 25994 | 610916 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NUBPL CL E G H | 80224 | 618242 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 | 618242 | | OMIM | 1 | | 284 | 20278 | 613621 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NUBPL CL E G H | 80224 | 618242 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 | 618242 | | OMIM | 1 | | 284 | 20278 | 613621 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NUBPL CL E G H | 80224 | 618242 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 | 618242 | | OMIM | 1 | | 284 | 20278 | 613621 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 1 | | 161 | 8066 | 605815 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 1 | | 161 | 8066 | 605815 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 1 | | 161 | 8066 | 605815 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | OPA3 CL E G H | 80207 | 67047 | | | | ORPHA | 1 | | 523 | 8142 | 606580 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | OPA3 CL E G H | 80207 | 67047 | | | | ORPHA | 1 | | 523 | 8142 | 606580 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | OPA3 CL E G H | 80207 | 67047 | | | | ORPHA | 1 | | 523 | 8142 | 606580 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | OPA3 CL E G H | 80207 | 258501 | 3-Methylglutaconic aciduria type 3 | 258501 | C0574084 | OMIM | 1 | | 523 | 8142 | 606580 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | OPA3 CL E G H | 80207 | 258501 | 3-Methylglutaconic aciduria type 3 | 258501 | C0574084 | OMIM | 1 | | 523 | 8142 | 606580 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | OPA3 CL E G H | 80207 | 258501 | 3-Methylglutaconic aciduria type 3 | 258501 | C0574084 | OMIM | 1 | | 523 | 8142 | 606580 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | OPTN CL E G H | 10133 | 613435 | Amyotrophic lateral sclerosis type 12 | 613435 | C3150692 | OMIM | 1 | | 428 | 17142 | 602432 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | OPTN CL E G H | 10133 | 613435 | Amyotrophic lateral sclerosis type 12 | 613435 | C3150692 | OMIM | 1 | | 428 | 17142 | 602432 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | OPTN CL E G H | 10133 | 613435 | Amyotrophic lateral sclerosis type 12 | 613435 | C3150692 | OMIM | 1 | | 428 | 17142 | 602432 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PABPN1 CL E G H | 8106 | 164300 | Oculopharyngeal muscular dystrophy | 164300 | C0270952 | OMIM | 1 | | 85 | 8565 | 602279 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PABPN1 CL E G H | 8106 | 164300 | Oculopharyngeal muscular dystrophy | 164300 | C0270952 | OMIM | 1 | | 85 | 8565 | 602279 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PABPN1 CL E G H | 8106 | 164300 | Oculopharyngeal muscular dystrophy | 164300 | C0270952 | OMIM | 1 | | 85 | 8565 | 602279 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PANK2 CL E G H | 80025 | 216866 | | | | ORPHA | 1 | | 499 | 15894 | 606157 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PANK2 CL E G H | 80025 | 216873 | | | | ORPHA | 1 | | 499 | 15894 | 606157 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PANK2 CL E G H | 80025 | 216866 | | | | ORPHA | 1 | | 499 | 15894 | 606157 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PANK2 CL E G H | 80025 | 216873 | | | | ORPHA | 1 | | 499 | 15894 | 606157 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PANK2 CL E G H | 80025 | 216866 | | | | ORPHA | 1 | | 499 | 15894 | 606157 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PANK2 CL E G H | 80025 | 216873 | | | | ORPHA | 1 | | 499 | 15894 | 606157 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PANK2 CL E G H | 80025 | 607236 | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 607236 | C1846582 | OMIM | 1 | | 499 | 15894 | 606157 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PANK2 CL E G H | 80025 | 607236 | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 607236 | C1846582 | OMIM | 1 | | 499 | 15894 | 606157 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PANK2 CL E G H | 80025 | 607236 | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 607236 | C1846582 | OMIM | 1 | | 499 | 15894 | 606157 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 499 | 15894 | 606157 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 499 | 15894 | 606157 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 499 | 15894 | 606157 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PCNA CL E G H | 5111 | 615919 | Ataxia-telangiectasia-like disorder 2 | 615919 | C4014676 | OMIM | 1 | | 48 | 8729 | 176740 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PCNA CL E G H | 5111 | 615919 | Ataxia-telangiectasia-like disorder 2 | 615919 | C4014676 | OMIM | 1 | | 48 | 8729 | 176740 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PCNA CL E G H | 5111 | 615919 | Ataxia-telangiectasia-like disorder 2 | 615919 | C4014676 | OMIM | 1 | | 48 | 8729 | 176740 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PDE10A CL E G H | 10846 | 494526 | | | | ORPHA | 1 | | 222 | 8772 | 610652 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PDE10A CL E G H | 10846 | 494526 | | | | ORPHA | 1 | | 222 | 8772 | 610652 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PDE10A CL E G H | 10846 | 494526 | | | | ORPHA | 1 | | 222 | 8772 | 610652 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PDE10A CL E G H | 10846 | 616921 | Dyskinesia, limb and orofacial, infantile-onset | 616921 | C4310792 | OMIM | 1 | | 222 | 8772 | 610652 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PDE10A CL E G H | 10846 | 616921 | Dyskinesia, limb and orofacial, infantile-onset | 616921 | C4310792 | OMIM | 1 | | 222 | 8772 | 610652 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PDE10A CL E G H | 10846 | 616921 | Dyskinesia, limb and orofacial, infantile-onset | 616921 | C4310792 | OMIM | 1 | | 222 | 8772 | 610652 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PDE8B CL E G H | 8622 | 228169 | Autosomal dominant striatal neurodegeneration | | C1836694 | ORPHA | 1 | | 243 | 8794 | 603390 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PDE8B CL E G H | 8622 | 228169 | Autosomal dominant striatal neurodegeneration | | C1836694 | ORPHA | 1 | | 243 | 8794 | 603390 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PDE8B CL E G H | 8622 | 228169 | Autosomal dominant striatal neurodegeneration | | C1836694 | ORPHA | 1 | | 243 | 8794 | 603390 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PDE8B CL E G H | 8622 | 609161 | Striatal degeneration, autosomal dominant 1 | 609161 | C4310808 | OMIM | 1 | | 243 | 8794 | 603390 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PDE8B CL E G H | 8622 | 609161 | Striatal degeneration, autosomal dominant 1 | 609161 | C4310808 | OMIM | 1 | | 243 | 8794 | 603390 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PDE8B CL E G H | 8622 | 609161 | Striatal degeneration, autosomal dominant 1 | 609161 | C4310808 | OMIM | 1 | | 243 | 8794 | 603390 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PDGFB CL E G H | 5155 | 615483 | Idiopathic basal ganglia calcification 5 | 615483 | C3809645 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PDGFB CL E G H | 5155 | 615483 | Idiopathic basal ganglia calcification 5 | 615483 | C3809645 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PDGFB CL E G H | 5155 | 615483 | Idiopathic basal ganglia calcification 5 | 615483 | C3809645 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 531 | 8804 | 173410 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 531 | 8804 | 173410 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 531 | 8804 | 173410 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PDHA1 CL E G H | 5160 | 255241 | | | | ORPHA | 1 | | 679 | 8806 | 300502 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PDHA1 CL E G H | 5160 | 255241 | | | | ORPHA | 1 | | 679 | 8806 | 300502 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PDHA1 CL E G H | 5160 | 255241 | | | | ORPHA | 1 | | 679 | 8806 | 300502 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PDYN CL E G H | 5173 | 101108 | | | | ORPHA | 1 | | 200 | 8820 | 131340 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PDYN CL E G H | 5173 | 101108 | | | | ORPHA | 1 | | 200 | 8820 | 131340 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PDYN CL E G H | 5173 | 101108 | | | | ORPHA | 1 | | 200 | 8820 | 131340 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PDYN CL E G H | 5173 | 610245 | Spinocerebellar ataxia 23 | 610245 | C1853250 | OMIM | 1 | | 200 | 8820 | 131340 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PDYN CL E G H | 5173 | 610245 | Spinocerebellar ataxia 23 | 610245 | C1853250 | OMIM | 1 | | 200 | 8820 | 131340 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PDYN CL E G H | 5173 | 610245 | Spinocerebellar ataxia 23 | 610245 | C1853250 | OMIM | 1 | | 200 | 8820 | 131340 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PET100 CL E G H | 100131801 | 255241 | | | | ORPHA | 1 | | 76 | 40038 | 614770 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PET100 CL E G H | 100131801 | 255241 | | | | ORPHA | 1 | | 76 | 40038 | 614770 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PET100 CL E G H | 100131801 | 255241 | | | | ORPHA | 1 | | 76 | 40038 | 614770 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PEX10 CL E G H | 5192 | 247815 | | | | ORPHA | 1 | | 803 | 8851 | 602859 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PEX10 CL E G H | 5192 | 247815 | | | | ORPHA | 1 | | 803 | 8851 | 602859 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PEX10 CL E G H | 5192 | 247815 | | | | ORPHA | 1 | | 803 | 8851 | 602859 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PEX10 CL E G H | 5192 | 614871 | Peroxisome biogenesis disorder 6B | 614871 | C3553948 | OMIM | 1 | | 803 | 8851 | 602859 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PEX10 CL E G H | 5192 | 614871 | Peroxisome biogenesis disorder 6B | 614871 | C3553948 | OMIM | 1 | | 803 | 8851 | 602859 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PEX10 CL E G H | 5192 | 614871 | Peroxisome biogenesis disorder 6B | 614871 | C3553948 | OMIM | 1 | | 803 | 8851 | 602859 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PEX16 CL E G H | 9409 | 614877 | Peroxisome biogenesis disorder 8B | 614877 | C3553960 | OMIM | 1 | | 470 | 8857 | 603360 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PEX16 CL E G H | 9409 | 614877 | Peroxisome biogenesis disorder 8B | 614877 | C3553960 | OMIM | 1 | | 470 | 8857 | 603360 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PEX16 CL E G H | 9409 | 614877 | Peroxisome biogenesis disorder 8B | 614877 | C3553960 | OMIM | 1 | | 470 | 8857 | 603360 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PEX2 CL E G H | 5828 | 614867 | Peroxisome biogenesis disorder 5B | 614867 | C3542026 | OMIM | 1 | | 463 | 9717 | 170993 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PEX2 CL E G H | 5828 | 614867 | Peroxisome biogenesis disorder 5B | 614867 | C3542026 | OMIM | 1 | | 463 | 9717 | 170993 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PEX2 CL E G H | 5828 | 614867 | Peroxisome biogenesis disorder 5B | 614867 | C3542026 | OMIM | 1 | | 463 | 9717 | 170993 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PFN1 CL E G H | 5216 | 614808 | Amyotrophic lateral sclerosis 18 | 614808 | C3553719 | OMIM | 1 | | 101 | 8881 | 176610 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PFN1 CL E G H | 5216 | 614808 | Amyotrophic lateral sclerosis 18 | 614808 | C3553719 | OMIM | 1 | | 101 | 8881 | 176610 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PFN1 CL E G H | 5216 | 614808 | Amyotrophic lateral sclerosis 18 | 614808 | C3553719 | OMIM | 1 | | 101 | 8881 | 176610 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PGM3 CL E G H | 5238 | 615816 | Immunodeficiency 23 | 615816 | C4014371 | OMIM | 1 | | 359 | 8907 | 172100 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PGM3 CL E G H | 5238 | 615816 | Immunodeficiency 23 | 615816 | C4014371 | OMIM | 1 | | 359 | 8907 | 172100 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PGM3 CL E G H | 5238 | 615816 | Immunodeficiency 23 | 615816 | C4014371 | OMIM | 1 | | 359 | 8907 | 172100 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PIK3R5 CL E G H | 23533 | 615217 | Ataxia-oculomotor apraxia 3 | 615217 | C3554690 | OMIM | 1 | | 90 | 30035 | 611317 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PIK3R5 CL E G H | 23533 | 615217 | Ataxia-oculomotor apraxia 3 | 615217 | C3554690 | OMIM | 1 | | 90 | 30035 | 611317 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PIK3R5 CL E G H | 23533 | 615217 | Ataxia-oculomotor apraxia 3 | 615217 | C3554690 | OMIM | 1 | | 90 | 30035 | 611317 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 1 | | 775 | 9039 | 603604 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 1 | | 775 | 9039 | 603604 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 1 | | 775 | 9039 | 603604 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PLA2G6 CL E G H | 8398 | 612953 | Parkinson disease 14 | 612953 | C2751842 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PLA2G6 CL E G H | 8398 | 612953 | Parkinson disease 14 | 612953 | C2751842 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PLA2G6 CL E G H | 8398 | 612953 | Parkinson disease 14 | 612953 | C2751842 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PLD3 CL E G H | 23646 | 617770 | SPINOCEREBELLAR ATAXIA 46 | 617770 | C4540404 | OMIM | 1 | | 110 | 17158 | 615698 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PLD3 CL E G H | 23646 | 617770 | SPINOCEREBELLAR ATAXIA 46 | 617770 | C4540404 | OMIM | 1 | | 110 | 17158 | 615698 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PLD3 CL E G H | 23646 | 617770 | SPINOCEREBELLAR ATAXIA 46 | 617770 | C4540404 | OMIM | 1 | | 110 | 17158 | 615698 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PLEKHG4 CL E G H | 25894 | 98765 | | | | ORPHA | 1 | | 97 | 24501 | 609526 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PLEKHG4 CL E G H | 25894 | 98765 | | | | ORPHA | 1 | | 97 | 24501 | 609526 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PLEKHG4 CL E G H | 25894 | 98765 | | | | ORPHA | 1 | | 97 | 24501 | 609526 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PLP1 CL E G H | 5354 | 312080 | Pelizaeus-Merzbacher disease | 312080 | C0205711 | OMIM | 1 | | 451 | 9086 | 300401 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PLP1 CL E G H | 5354 | 312080 | Pelizaeus-Merzbacher disease | 312080 | C0205711 | OMIM | 1 | | 451 | 9086 | 300401 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PLP1 CL E G H | 5354 | 312080 | Pelizaeus-Merzbacher disease | 312080 | C0205711 | OMIM | 1 | | 451 | 9086 | 300401 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PLP1 CL E G H | 5354 | 312920 | Spastic paraplegia 2 | 312920 | C1839264 | OMIM | 1 | | 451 | 9086 | 300401 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PLP1 CL E G H | 5354 | 312920 | Spastic paraplegia 2 | 312920 | C1839264 | OMIM | 1 | | 451 | 9086 | 300401 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PLP1 CL E G H | 5354 | 312920 | Spastic paraplegia 2 | 312920 | C1839264 | OMIM | 1 | | 451 | 9086 | 300401 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PMPCA CL E G H | 23203 | 213200 | Spinocerebellar ataxia, autosomal recessive 2 | 213200 | C1859298 | OMIM | 1 | | 205 | 18667 | 613036 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PMPCA CL E G H | 23203 | 213200 | Spinocerebellar ataxia, autosomal recessive 2 | 213200 | C1859298 | OMIM | 1 | | 205 | 18667 | 613036 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PMPCA CL E G H | 23203 | 213200 | Spinocerebellar ataxia, autosomal recessive 2 | 213200 | C1859298 | OMIM | 1 | | 205 | 18667 | 613036 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PNKD CL E G H | 25953 | 118800 | Paroxysmal nonkinesigenic dyskinesia 1 | 118800 | | OMIM | 1 | | 521 | 9153 | 609023 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PNKD CL E G H | 25953 | 118800 | Paroxysmal nonkinesigenic dyskinesia 1 | 118800 | | OMIM | 1 | | 521 | 9153 | 609023 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PNKD CL E G H | 25953 | 118800 | Paroxysmal nonkinesigenic dyskinesia 1 | 118800 | | OMIM | 1 | | 521 | 9153 | 609023 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PNPLA8 CL E G H | 50640 | 251950 | Mitochondrial myopathy with lactic acidosis | 251950 | C1855033 | OMIM | 1 | | 271 | 28900 | 612123 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PNPLA8 CL E G H | 50640 | 251950 | Mitochondrial myopathy with lactic acidosis | 251950 | C1855033 | OMIM | 1 | | 271 | 28900 | 612123 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PNPLA8 CL E G H | 50640 | 251950 | Mitochondrial myopathy with lactic acidosis | 251950 | C1855033 | OMIM | 1 | | 271 | 28900 | 612123 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | POLR3A CL E G H | 11128 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 1025 | 30074 | 614258 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | POLR3A CL E G H | 11128 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 1025 | 30074 | 614258 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | POLR3A CL E G H | 11128 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 1025 | 30074 | 614258 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | POLR3B CL E G H | 55703 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 510 | 30348 | 614366 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | POLR3B CL E G H | 55703 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 510 | 30348 | 614366 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | POLR3B CL E G H | 55703 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 510 | 30348 | 614366 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | POLR3B CL E G H | 55703 | 614381 | Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism | 614381 | C3280644 | OMIM | 1 | | 510 | 30348 | 614366 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | POLR3B CL E G H | 55703 | 614381 | Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism | 614381 | C3280644 | OMIM | 1 | | 510 | 30348 | 614366 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | POLR3B CL E G H | 55703 | 614381 | Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism | 614381 | C3280644 | OMIM | 1 | | 510 | 30348 | 614366 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PPP1R15B CL E G H | 84919 | 616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | 616817 | C4225195 | OMIM | 1 | | 134 | 14951 | 613257 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PPP1R15B CL E G H | 84919 | 616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | 616817 | C4225195 | OMIM | 1 | | 134 | 14951 | 613257 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PPP1R15B CL E G H | 84919 | 616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | 616817 | C4225195 | OMIM | 1 | | 134 | 14951 | 613257 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PPP2R2B CL E G H | 5521 | 604326 | Spinocerebellar ataxia 12 | 604326 | C1858501 | OMIM | 1 | | 71 | 9305 | 604325 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PPP2R2B CL E G H | 5521 | 604326 | Spinocerebellar ataxia 12 | 604326 | C1858501 | OMIM | 1 | | 71 | 9305 | 604325 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PPP2R2B CL E G H | 5521 | 604326 | Spinocerebellar ataxia 12 | 604326 | C1858501 | OMIM | 1 | | 71 | 9305 | 604325 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 1 | | 439 | 13993 | 616639 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 1 | | 439 | 13993 | 616639 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 1 | | 439 | 13993 | 616639 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 439 | 13993 | 616639 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 439 | 13993 | 616639 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 439 | 13993 | 616639 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PRICKLE1 CL E G H | 144165 | 308 | | | | ORPHA | 1 | | 570 | 17019 | 608500 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PRICKLE1 CL E G H | 144165 | 308 | | | | ORPHA | 1 | | 570 | 17019 | 608500 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PRICKLE1 CL E G H | 144165 | 308 | | | | ORPHA | 1 | | 570 | 17019 | 608500 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PRICKLE1 CL E G H | 144165 | 612437 | Progressive myoclonus epilepsy with ataxia | 612437 | C2676254 | OMIM | 1 | | 570 | 17019 | 608500 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PRICKLE1 CL E G H | 144165 | 612437 | Progressive myoclonus epilepsy with ataxia | 612437 | C2676254 | OMIM | 1 | | 570 | 17019 | 608500 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PRICKLE1 CL E G H | 144165 | 612437 | Progressive myoclonus epilepsy with ataxia | 612437 | C2676254 | OMIM | 1 | | 570 | 17019 | 608500 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PRKCG CL E G H | 5582 | 605361 | Spinocerebellar ataxia 14 | 605361 | C1854369 | OMIM | 1 | | 323 | 9402 | 176980 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PRKCG CL E G H | 5582 | 605361 | Spinocerebellar ataxia 14 | 605361 | C1854369 | OMIM | 1 | | 323 | 9402 | 176980 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PRKCG CL E G H | 5582 | 605361 | Spinocerebellar ataxia 14 | 605361 | C1854369 | OMIM | 1 | | 323 | 9402 | 176980 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PRKRA CL E G H | 8575 | 210571 | | | | ORPHA | 1 | | 192 | 9438 | 603424 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PRKRA CL E G H | 8575 | 210571 | | | | ORPHA | 1 | | 192 | 9438 | 603424 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PRKRA CL E G H | 8575 | 210571 | | | | ORPHA | 1 | | 192 | 9438 | 603424 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PRNP CL E G H | 5621 | 603218 | Huntington disease-like 1 | 603218 | C1864112 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PRNP CL E G H | 5621 | 603218 | Huntington disease-like 1 | 603218 | C1864112 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PRNP CL E G H | 5621 | 603218 | Huntington disease-like 1 | 603218 | C1864112 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PSAP CL E G H | 5660 | 309271 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PSAP CL E G H | 5660 | 309256 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PSAP CL E G H | 5660 | 309263 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PSAP CL E G H | 5660 | 309271 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PSAP CL E G H | 5660 | 309256 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PSAP CL E G H | 5660 | 309263 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PSAP CL E G H | 5660 | 309271 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PSAP CL E G H | 5660 | 309256 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PSAP CL E G H | 5660 | 309263 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PTPN11 CL E G H | 5781 | 648 | | | | ORPHA | 1 | | 854 | 9644 | 176876 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PTPN11 CL E G H | 5781 | 648 | | | | ORPHA | 1 | | 854 | 9644 | 176876 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PTPN11 CL E G H | 5781 | 648 | | | | ORPHA | 1 | | 854 | 9644 | 176876 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PUM1 CL E G H | 9698 | 617931 | SPINOCEREBELLAR ATAXIA 47 | 617931 | CN244564 | OMIM | 1 | | 175 | 14957 | 607204 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PUM1 CL E G H | 9698 | 617931 | SPINOCEREBELLAR ATAXIA 47 | 617931 | CN244564 | OMIM | 1 | | 175 | 14957 | 607204 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PUM1 CL E G H | 9698 | 617931 | SPINOCEREBELLAR ATAXIA 47 | 617931 | CN244564 | OMIM | 1 | | 175 | 14957 | 607204 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | RAB39B CL E G H | 116442 | 311510 | Parkinsonism, early onset with mental retardation | 311510 | C0796195 | OMIM | 1 | | 320 | 16499 | 300774 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | RAB39B CL E G H | 116442 | 311510 | Parkinsonism, early onset with mental retardation | 311510 | C0796195 | OMIM | 1 | | 320 | 16499 | 300774 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | RAB39B CL E G H | 116442 | 311510 | Parkinsonism, early onset with mental retardation | 311510 | C0796195 | OMIM | 1 | | 320 | 16499 | 300774 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | RAF1 CL E G H | 5894 | 648 | | | | ORPHA | 1 | | 990 | 9829 | 164760 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | RAF1 CL E G H | 5894 | 648 | | | | ORPHA | 1 | | 990 | 9829 | 164760 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | RAF1 CL E G H | 5894 | 648 | | | | ORPHA | 1 | | 990 | 9829 | 164760 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | RAI1 CL E G H | 10743 | 1713 | | | | ORPHA | 1 | | 1608 | 9834 | 607642 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | RAI1 CL E G H | 10743 | 1713 | | | | ORPHA | 1 | | 1608 | 9834 | 607642 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | RAI1 CL E G H | 10743 | 1713 | | | | ORPHA | 1 | | 1608 | 9834 | 607642 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | RANBP2 CL E G H | 5903 | 88619 | | | | ORPHA | 1 | | 1372 | 9848 | 601181 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | RANBP2 CL E G H | 5903 | 88619 | | | | ORPHA | 1 | | 1372 | 9848 | 601181 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | RANBP2 CL E G H | 5903 | 88619 | | | | ORPHA | 1 | | 1372 | 9848 | 601181 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | RARS CL E G H | 5917 | 616140 | Leukodystrophy, hypomyelinating, 9 | 616140 | C4015323 | OMIM | 1 | | | 9870 | 107820 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | RARS CL E G H | 5917 | 616140 | Leukodystrophy, hypomyelinating, 9 | 616140 | C4015323 | OMIM | 1 | | | 9870 | 107820 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | RARS CL E G H | 5917 | 616140 | Leukodystrophy, hypomyelinating, 9 | 616140 | C4015323 | OMIM | 1 | | | 9870 | 107820 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | RASA2 CL E G H | 5922 | 648 | | | | ORPHA | 1 | | 533 | 9872 | 601589 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | RASA2 CL E G H | 5922 | 648 | | | | ORPHA | 1 | | 533 | 9872 | 601589 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | RASA2 CL E G H | 5922 | 648 | | | | ORPHA | 1 | | 533 | 9872 | 601589 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | REEP1 CL E G H | 65055 | 610250 | Spastic paraplegia 31, autosomal dominant | 610250 | C1853247 | OMIM | 1 | | 434 | 25786 | 609139 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | REEP1 CL E G H | 65055 | 610250 | Spastic paraplegia 31, autosomal dominant | 610250 | C1853247 | OMIM | 1 | | 434 | 25786 | 609139 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | REEP1 CL E G H | 65055 | 610250 | Spastic paraplegia 31, autosomal dominant | 610250 | C1853247 | OMIM | 1 | | 434 | 25786 | 609139 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | REPS1 CL E G H | 85021 | 617916 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 | 617916 | CN895590 | OMIM | 1 | | 156 | 15578 | 614825 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | REPS1 CL E G H | 85021 | 617916 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 | 617916 | CN895590 | OMIM | 1 | | 156 | 15578 | 614825 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | REPS1 CL E G H | 85021 | 617916 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 | 617916 | CN895590 | OMIM | 1 | | 156 | 15578 | 614825 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | RERE CL E G H | 473 | 616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 616975 | C4310772 | OMIM | 1 | | 659 | 9965 | 605226 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | RERE CL E G H | 473 | 616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 616975 | C4310772 | OMIM | 1 | | 659 | 9965 | 605226 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | RERE CL E G H | 473 | 616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 616975 | C4310772 | OMIM | 1 | | 659 | 9965 | 605226 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | RIT1 CL E G H | 6016 | 648 | | | | ORPHA | 1 | | 269 | 10023 | 609591 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | RIT1 CL E G H | 6016 | 648 | | | | ORPHA | 1 | | 269 | 10023 | 609591 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | RIT1 CL E G H | 6016 | 648 | | | | ORPHA | 1 | | 269 | 10023 | 609591 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | RNASEH1 CL E G H | 246243 | 329336 | | | | ORPHA | 1 | | 189 | 18466 | 604123 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | RNASEH1 CL E G H | 246243 | 329336 | | | | ORPHA | 1 | | 189 | 18466 | 604123 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | RNASEH1 CL E G H | 246243 | 329336 | | | | ORPHA | 1 | | 189 | 18466 | 604123 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | RNASEH1 CL E G H | 246243 | 616479 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | 616479 | C4225312 | OMIM | 1 | | 189 | 18466 | 604123 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | RNASEH1 CL E G H | 246243 | 616479 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | 616479 | C4225312 | OMIM | 1 | | 189 | 18466 | 604123 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | RNASEH1 CL E G H | 246243 | 616479 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | 616479 | C4225312 | OMIM | 1 | | 189 | 18466 | 604123 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | RNF216 CL E G H | 54476 | 212840 | Gordon Holmes syndrome | 212840 | C1859305 | OMIM | 1 | | 297 | 21698 | 609948 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | RNF216 CL E G H | 54476 | 212840 | Gordon Holmes syndrome | 212840 | C1859305 | OMIM | 1 | | 297 | 21698 | 609948 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | RNF216 CL E G H | 54476 | 212840 | Gordon Holmes syndrome | 212840 | C1859305 | OMIM | 1 | | 297 | 21698 | 609948 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | RNU12 CL E G H | 267010 | 512260 | | | | ORPHA | 1 | | 17 | 19380 | 0 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | RNU12 CL E G H | 267010 | 512260 | | | | ORPHA | 1 | | 17 | 19380 | 0 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | RNU12 CL E G H | 267010 | 512260 | | | | ORPHA | 1 | | 17 | 19380 | 0 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | RPIA CL E G H | 22934 | 608611 | Deficiency of ribose-5-phosphate isomerase | 608611 | C1291609 | OMIM | 1 | | 112 | 10297 | 180430 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | RPIA CL E G H | 22934 | 608611 | Deficiency of ribose-5-phosphate isomerase | 608611 | C1291609 | OMIM | 1 | | 112 | 10297 | 180430 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | RPIA CL E G H | 22934 | 608611 | Deficiency of ribose-5-phosphate isomerase | 608611 | C1291609 | OMIM | 1 | | 112 | 10297 | 180430 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | RRAS CL E G H | 6237 | 648 | | | | ORPHA | 1 | | 260 | 10447 | 165090 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | RRAS CL E G H | 6237 | 648 | | | | ORPHA | 1 | | 260 | 10447 | 165090 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | RRAS CL E G H | 6237 | 648 | | | | ORPHA | 1 | | 260 | 10447 | 165090 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | RRM2B CL E G H | 50484 | 329336 | | | | ORPHA | 1 | | 354 | 17296 | 604712 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | RRM2B CL E G H | 50484 | 329336 | | | | ORPHA | 1 | | 354 | 17296 | 604712 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | RRM2B CL E G H | 50484 | 329336 | | | | ORPHA | 1 | | 354 | 17296 | 604712 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | RRM2B CL E G H | 50484 | 613077 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | 613077 | C2751319 | OMIM | 1 | | 354 | 17296 | 604712 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | RRM2B CL E G H | 50484 | 613077 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | 613077 | C2751319 | OMIM | 1 | | 354 | 17296 | 604712 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | RRM2B CL E G H | 50484 | 613077 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | 613077 | C2751319 | OMIM | 1 | | 354 | 17296 | 604712 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | RUBCN CL E G H | 9711 | 404499 | | | | ORPHA | 1 | | 162 | 28991 | 613516 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | RUBCN CL E G H | 9711 | 404499 | | | | ORPHA | 1 | | 162 | 28991 | 613516 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | RUBCN CL E G H | 9711 | 404499 | | | | ORPHA | 1 | | 162 | 28991 | 613516 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | RUBCN CL E G H | 9711 | 615705 | Spinocerebellar ataxia, autosomal recessive 15 | 615705 | C3810326 | OMIM | 1 | | 162 | 28991 | 613516 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | RUBCN CL E G H | 9711 | 615705 | Spinocerebellar ataxia, autosomal recessive 15 | 615705 | C3810326 | OMIM | 1 | | 162 | 28991 | 613516 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | RUBCN CL E G H | 9711 | 615705 | Spinocerebellar ataxia, autosomal recessive 15 | 615705 | C3810326 | OMIM | 1 | | 162 | 28991 | 613516 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SACS CL E G H | 26278 | 98 | | | | ORPHA | 1 | | 3377 | 10519 | 604490 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SACS CL E G H | 26278 | 98 | | | | ORPHA | 1 | | 3377 | 10519 | 604490 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SACS CL E G H | 26278 | 98 | | | | ORPHA | 1 | | 3377 | 10519 | 604490 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SACS CL E G H | 26278 | 270550 | Spastic ataxia Charlevoix-Saguenay type | 270550 | C1849140 | OMIM | 1 | | 3377 | 10519 | 604490 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SACS CL E G H | 26278 | 270550 | Spastic ataxia Charlevoix-Saguenay type | 270550 | C1849140 | OMIM | 1 | | 3377 | 10519 | 604490 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SACS CL E G H | 26278 | 270550 | Spastic ataxia Charlevoix-Saguenay type | 270550 | C1849140 | OMIM | 1 | | 3377 | 10519 | 604490 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SAMD9L CL E G H | 219285 | 159550 | Myelocerebellar disorder | 159550 | C1327919 | OMIM | 1 | | 713 | 1349 | 611170 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SAMD9L CL E G H | 219285 | 159550 | Myelocerebellar disorder | 159550 | C1327919 | OMIM | 1 | | 713 | 1349 | 611170 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SAMD9L CL E G H | 219285 | 159550 | Myelocerebellar disorder | 159550 | C1327919 | OMIM | 1 | | 713 | 1349 | 611170 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SCARB2 CL E G H | 950 | 308 | | | | ORPHA | 1 | | 474 | 1665 | 602257 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SCARB2 CL E G H | 950 | 308 | | | | ORPHA | 1 | | 474 | 1665 | 602257 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SCARB2 CL E G H | 950 | 308 | | | | ORPHA | 1 | | 474 | 1665 | 602257 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SCARB2 CL E G H | 950 | 254900 | Epilepsy, progressive myoclonic 4, with or without renal failure | 254900 | C0751779 | OMIM | 1 | | 474 | 1665 | 602257 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SCARB2 CL E G H | 950 | 254900 | Epilepsy, progressive myoclonic 4, with or without renal failure | 254900 | C0751779 | OMIM | 1 | | 474 | 1665 | 602257 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SCARB2 CL E G H | 950 | 254900 | Epilepsy, progressive myoclonic 4, with or without renal failure | 254900 | C0751779 | OMIM | 1 | | 474 | 1665 | 602257 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SCO2 CL E G H | 9997 | 521411 | | | | ORPHA | 1 | | 701 | 10604 | 604272 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SCO2 CL E G H | 9997 | 521411 | | | | ORPHA | 1 | | 701 | 10604 | 604272 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SCO2 CL E G H | 9997 | 521411 | | | | ORPHA | 1 | | 701 | 10604 | 604272 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SDHA CL E G H | 6389 | 255241 | | | | ORPHA | 1 | | 2503 | 10680 | 600857 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SDHA CL E G H | 6389 | 255241 | | | | ORPHA | 1 | | 2503 | 10680 | 600857 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SDHA CL E G H | 6389 | 255241 | | | | ORPHA | 1 | | 2503 | 10680 | 600857 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SDHA CL E G H | 6389 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SDHA CL E G H | 6389 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SDHA CL E G H | 6389 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SIGMAR1 CL E G H | 10280 | 300605 | Juvenile amyotrophic lateral sclerosis | | CN239582 | ORPHA | 1 | | 247 | 8157 | 601978 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SIGMAR1 CL E G H | 10280 | 300605 | Juvenile amyotrophic lateral sclerosis | | CN239582 | ORPHA | 1 | | 247 | 8157 | 601978 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SIGMAR1 CL E G H | 10280 | 300605 | Juvenile amyotrophic lateral sclerosis | | CN239582 | ORPHA | 1 | | 247 | 8157 | 601978 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SIL1 CL E G H | 64374 | 559 | | | | ORPHA | 1 | | 352 | 24624 | 608005 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SIL1 CL E G H | 64374 | 559 | | | | ORPHA | 1 | | 352 | 24624 | 608005 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SIL1 CL E G H | 64374 | 559 | | | | ORPHA | 1 | | 352 | 24624 | 608005 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SIL1 CL E G H | 64374 | 248800 | Marinesco-Sjögren syndrome | 248800 | C0024814 | OMIM | 1 | | 352 | 24624 | 608005 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SIL1 CL E G H | 64374 | 248800 | Marinesco-Sjögren syndrome | 248800 | C0024814 | OMIM | 1 | | 352 | 24624 | 608005 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SIL1 CL E G H | 64374 | 248800 | Marinesco-Sjögren syndrome | 248800 | C0024814 | OMIM | 1 | | 352 | 24624 | 608005 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SLC16A2 CL E G H | 6567 | 300523 | Allan-Herndon-Dudley syndrome | 300523 | C0795889 | OMIM | 1 | | 427 | 10923 | 300095 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SLC16A2 CL E G H | 6567 | 300523 | Allan-Herndon-Dudley syndrome | 300523 | C0795889 | OMIM | 1 | | 427 | 10923 | 300095 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SLC16A2 CL E G H | 6567 | 300523 | Allan-Herndon-Dudley syndrome | 300523 | C0795889 | OMIM | 1 | | 427 | 10923 | 300095 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SLC17A5 CL E G H | 26503 | 604369 | Salla disease | 604369 | C1096903 | OMIM | 1 | | 520 | 10933 | 604322 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SLC17A5 CL E G H | 26503 | 604369 | Salla disease | 604369 | C1096903 | OMIM | 1 | | 520 | 10933 | 604322 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SLC17A5 CL E G H | 26503 | 604369 | Salla disease | 604369 | C1096903 | OMIM | 1 | | 520 | 10933 | 604322 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SLC18A2 CL E G H | 6571 | 352649 | | | | ORPHA | 1 | | 183 | 10935 | 193001 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SLC18A2 CL E G H | 6571 | 352649 | | | | ORPHA | 1 | | 183 | 10935 | 193001 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SLC18A2 CL E G H | 6571 | 352649 | | | | ORPHA | 1 | | 183 | 10935 | 193001 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SLC18A2 CL E G H | 6571 | 618049 | PARKINSONISM-DYSTONIA, INFANTILE, 2 | 618049 | CN248785 | OMIM | 1 | | 183 | 10935 | 193001 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SLC18A2 CL E G H | 6571 | 618049 | PARKINSONISM-DYSTONIA, INFANTILE, 2 | 618049 | CN248785 | OMIM | 1 | | 183 | 10935 | 193001 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SLC18A2 CL E G H | 6571 | 618049 | PARKINSONISM-DYSTONIA, INFANTILE, 2 | 618049 | CN248785 | OMIM | 1 | | 183 | 10935 | 193001 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SLC19A3 CL E G H | 80704 | 255241 | | | | ORPHA | 1 | | 563 | 16266 | 606152 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SLC19A3 CL E G H | 80704 | 255241 | | | | ORPHA | 1 | | 563 | 16266 | 606152 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SLC19A3 CL E G H | 80704 | 255241 | | | | ORPHA | 1 | | 563 | 16266 | 606152 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SLC1A3 CL E G H | 6507 | 612656 | Episodic ataxia, type 6 | 612656 | C2675211 | OMIM | 1 | | 266 | 10941 | 600111 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SLC1A3 CL E G H | 6507 | 612656 | Episodic ataxia, type 6 | 612656 | C2675211 | OMIM | 1 | | 266 | 10941 | 600111 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SLC1A3 CL E G H | 6507 | 612656 | Episodic ataxia, type 6 | 612656 | C2675211 | OMIM | 1 | | 266 | 10941 | 600111 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 337 | 10947 | 158378 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 337 | 10947 | 158378 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 337 | 10947 | 158378 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SLC2A1 CL E G H | 6513 | 53583 | | | | ORPHA | 1 | | 965 | 11005 | 138140 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 1 | | 965 | 11005 | 138140 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SLC2A1 CL E G H | 6513 | 53583 | | | | ORPHA | 1 | | 965 | 11005 | 138140 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 1 | | 965 | 11005 | 138140 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SLC2A1 CL E G H | 6513 | 53583 | | | | ORPHA | 1 | | 965 | 11005 | 138140 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 1 | | 965 | 11005 | 138140 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SLC2A1 CL E G H | 6513 | 601042 | Dystonia 9 | 601042 | C1832855 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SLC2A1 CL E G H | 6513 | 601042 | Dystonia 9 | 601042 | C1832855 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SLC2A1 CL E G H | 6513 | 601042 | Dystonia 9 | 601042 | C1832855 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SLC2A1 CL E G H | 6513 | 606777 | GLUT1 deficiency syndrome 1 | 606777 | CN030711 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SLC2A1 CL E G H | 6513 | 606777 | GLUT1 deficiency syndrome 1 | 606777 | CN030711 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SLC2A1 CL E G H | 6513 | 606777 | GLUT1 deficiency syndrome 1 | 606777 | CN030711 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 275 | 25355 | 611146 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 275 | 25355 | 611146 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 275 | 25355 | 611146 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 275 | 25355 | 611146 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 275 | 25355 | 611146 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 275 | 25355 | 611146 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 125 | 11021 | 605634 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 125 | 11021 | 605634 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 125 | 11021 | 605634 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 520 | 30224 | 607882 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 520 | 30224 | 607882 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 520 | 30224 | 607882 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 464 | 16187 | 613350 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 464 | 16187 | 613350 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 464 | 16187 | 613350 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 1 | | 809 | 11042 | 137165 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 1 | | 809 | 11042 | 137165 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 1 | | 809 | 11042 | 137165 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SLC9A1 CL E G H | 6548 | 616291 | Lichtenstein-knorr syndrome | 616291 | C4225383 | OMIM | 1 | | 162 | 11071 | 107310 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SLC9A1 CL E G H | 6548 | 616291 | Lichtenstein-knorr syndrome | 616291 | C4225383 | OMIM | 1 | | 162 | 11071 | 107310 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SLC9A1 CL E G H | 6548 | 616291 | Lichtenstein-knorr syndrome | 616291 | C4225383 | OMIM | 1 | | 162 | 11071 | 107310 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SMS CL E G H | 6611 | 309583 | Snyder Robinson syndrome | 309583 | C0796160 | OMIM | 1 | | 294 | 11123 | 300105 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SMS CL E G H | 6611 | 309583 | Snyder Robinson syndrome | 309583 | C0796160 | OMIM | 1 | | 294 | 11123 | 300105 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SMS CL E G H | 6611 | 309583 | Snyder Robinson syndrome | 309583 | C0796160 | OMIM | 1 | | 294 | 11123 | 300105 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SNAP25 CL E G H | 6616 | 616330 | Myasthenic syndrome, congenital, 18 | 616330 | C4225364 | OMIM | 1 | | 218 | 11132 | 600322 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SNAP25 CL E G H | 6616 | 616330 | Myasthenic syndrome, congenital, 18 | 616330 | C4225364 | OMIM | 1 | | 218 | 11132 | 600322 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SNAP25 CL E G H | 6616 | 616330 | Myasthenic syndrome, congenital, 18 | 616330 | C4225364 | OMIM | 1 | | 218 | 11132 | 600322 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 160 | 11139 | 603779 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 160 | 11139 | 603779 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 160 | 11139 | 603779 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SOS1 CL E G H | 6654 | 648 | | | | ORPHA | 1 | | 1503 | 11187 | 182530 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SOS1 CL E G H | 6654 | 648 | | | | ORPHA | 1 | | 1503 | 11187 | 182530 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SOS1 CL E G H | 6654 | 648 | | | | ORPHA | 1 | | 1503 | 11187 | 182530 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SOS2 CL E G H | 6655 | 648 | | | | ORPHA | 1 | | 1250 | 11188 | 601247 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SOS2 CL E G H | 6655 | 648 | | | | ORPHA | 1 | | 1250 | 11188 | 601247 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SOS2 CL E G H | 6655 | 648 | | | | ORPHA | 1 | | 1250 | 11188 | 601247 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SPART CL E G H | 23111 | 275900 | Troyer syndrome | 275900 | C0393559 | OMIM | 1 | | 353 | 18514 | 607111 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SPART CL E G H | 23111 | 275900 | Troyer syndrome | 275900 | C0393559 | OMIM | 1 | | 353 | 18514 | 607111 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SPART CL E G H | 23111 | 275900 | Troyer syndrome | 275900 | C0393559 | OMIM | 1 | | 353 | 18514 | 607111 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SPG11 CL E G H | 80208 | 602099 | Amyotrophic lateral sclerosis type 5 | 602099 | C1865864 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SPG11 CL E G H | 80208 | 602099 | Amyotrophic lateral sclerosis type 5 | 602099 | C1865864 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SPG11 CL E G H | 80208 | 602099 | Amyotrophic lateral sclerosis type 5 | 602099 | C1865864 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SPG11 CL E G H | 80208 | 2822 | Hyperinsulinism, focal | | | ORPHA | 1 | | 2625 | 11226 | 610844 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SPG11 CL E G H | 80208 | 2822 | Hyperinsulinism, focal | | | ORPHA | 1 | | 2625 | 11226 | 610844 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SPG11 CL E G H | 80208 | 2822 | Hyperinsulinism, focal | | | ORPHA | 1 | | 2625 | 11226 | 610844 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SPG11 CL E G H | 80208 | 300605 | Juvenile amyotrophic lateral sclerosis | | CN239582 | ORPHA | 1 | | 2625 | 11226 | 610844 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SPG11 CL E G H | 80208 | 300605 | Juvenile amyotrophic lateral sclerosis | | CN239582 | ORPHA | 1 | | 2625 | 11226 | 610844 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SPG11 CL E G H | 80208 | 300605 | Juvenile amyotrophic lateral sclerosis | | CN239582 | ORPHA | 1 | | 2625 | 11226 | 610844 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SPG7 CL E G H | 6687 | 607259 | Spastic paraplegia 7 | 607259 | C1846564 | OMIM | 1 | | 966 | 11237 | 602783 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SPG7 CL E G H | 6687 | 607259 | Spastic paraplegia 7 | 607259 | C1846564 | OMIM | 1 | | 966 | 11237 | 602783 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SPG7 CL E G H | 6687 | 607259 | Spastic paraplegia 7 | 607259 | C1846564 | OMIM | 1 | | 966 | 11237 | 602783 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SPR CL E G H | 6697 | 612716 | Sepiapterin reductase deficiency | 612716 | C0268468 | OMIM | 1 | | 198 | 11257 | 182125 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SPR CL E G H | 6697 | 612716 | Sepiapterin reductase deficiency | 612716 | C0268468 | OMIM | 1 | | 198 | 11257 | 182125 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SPR CL E G H | 6697 | 612716 | Sepiapterin reductase deficiency | 612716 | C0268468 | OMIM | 1 | | 198 | 11257 | 182125 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SPTBN2 CL E G H | 6712 | 352403 | | | | ORPHA | 1 | | 938 | 11276 | 604985 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SPTBN2 CL E G H | 6712 | 352403 | | | | ORPHA | 1 | | 938 | 11276 | 604985 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SPTBN2 CL E G H | 6712 | 352403 | | | | ORPHA | 1 | | 938 | 11276 | 604985 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SPTBN2 CL E G H | 6712 | 600224 | Spinocerebellar ataxia 5 | 600224 | C0752123 | OMIM | 1 | | 938 | 11276 | 604985 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SPTBN2 CL E G H | 6712 | 600224 | Spinocerebellar ataxia 5 | 600224 | C0752123 | OMIM | 1 | | 938 | 11276 | 604985 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SPTBN2 CL E G H | 6712 | 600224 | Spinocerebellar ataxia 5 | 600224 | C0752123 | OMIM | 1 | | 938 | 11276 | 604985 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SQSTM1 CL E G H | 8878 | 616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 616437 | C4225326 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SQSTM1 CL E G H | 8878 | 616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 616437 | C4225326 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SQSTM1 CL E G H | 8878 | 616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 616437 | C4225326 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SQSTM1 CL E G H | 8878 | 617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 | C4310693 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SQSTM1 CL E G H | 8878 | 617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 | C4310693 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SQSTM1 CL E G H | 8878 | 617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 | C4310693 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | STUB1 CL E G H | 10273 | 412057 | | | | ORPHA | 1 | | 226 | 11427 | 607207 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | STUB1 CL E G H | 10273 | 412057 | | | | ORPHA | 1 | | 226 | 11427 | 607207 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | STUB1 CL E G H | 10273 | 412057 | | | | ORPHA | 1 | | 226 | 11427 | 607207 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | STUB1 CL E G H | 10273 | 618093 | SPINOCEREBELLAR ATAXIA 48 | 618093 | | OMIM | 1 | | 226 | 11427 | 607207 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | STUB1 CL E G H | 10273 | 618093 | SPINOCEREBELLAR ATAXIA 48 | 618093 | | OMIM | 1 | | 226 | 11427 | 607207 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | STUB1 CL E G H | 10273 | 618093 | SPINOCEREBELLAR ATAXIA 48 | 618093 | | OMIM | 1 | | 226 | 11427 | 607207 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | STUB1 CL E G H | 10273 | 615768 | Spinocerebellar ataxia, autosomal recessive 16 | 615768 | C4014261 | OMIM | 1 | | 226 | 11427 | 607207 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | STUB1 CL E G H | 10273 | 615768 | Spinocerebellar ataxia, autosomal recessive 16 | 615768 | C4014261 | OMIM | 1 | | 226 | 11427 | 607207 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | STUB1 CL E G H | 10273 | 615768 | Spinocerebellar ataxia, autosomal recessive 16 | 615768 | C4014261 | OMIM | 1 | | 226 | 11427 | 607207 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SUFU CL E G H | 51684 | 617757 | JOUBERT SYNDROME 32 | 617757 | C4540342 | OMIM | 1 | | 1306 | 16466 | 607035 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SUFU CL E G H | 51684 | 617757 | JOUBERT SYNDROME 32 | 617757 | C4540342 | OMIM | 1 | | 1306 | 16466 | 607035 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SUFU CL E G H | 51684 | 617757 | JOUBERT SYNDROME 32 | 617757 | C4540342 | OMIM | 1 | | 1306 | 16466 | 607035 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SURF1 CL E G H | 6834 | 255241 | | | | ORPHA | 1 | | 532 | 11474 | 185620 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SURF1 CL E G H | 6834 | 255241 | | | | ORPHA | 1 | | 532 | 11474 | 185620 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SURF1 CL E G H | 6834 | 255241 | | | | ORPHA | 1 | | 532 | 11474 | 185620 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SURF1 CL E G H | 6834 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 532 | 11474 | 185620 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SURF1 CL E G H | 6834 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 532 | 11474 | 185620 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SURF1 CL E G H | 6834 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 532 | 11474 | 185620 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SYNE1 CL E G H | 23345 | 610743 | Spinocerebellar ataxia, autosomal recessive 8 | 610743 | C1853116 | OMIM | 1 | | 5789 | 17089 | 608441 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SYNE1 CL E G H | 23345 | 610743 | Spinocerebellar ataxia, autosomal recessive 8 | 610743 | C1853116 | OMIM | 1 | | 5789 | 17089 | 608441 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SYNE1 CL E G H | 23345 | 610743 | Spinocerebellar ataxia, autosomal recessive 8 | 610743 | C1853116 | OMIM | 1 | | 5789 | 17089 | 608441 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 1 | | 1315 | 11503 | 604297 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 1 | | 1315 | 11503 | 604297 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 1 | | 1315 | 11503 | 604297 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SYT14 CL E G H | 255928 | 284271 | | | | ORPHA | 1 | | 104 | 23143 | 610949 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SYT14 CL E G H | 255928 | 284271 | | | | ORPHA | 1 | | 104 | 23143 | 610949 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SYT14 CL E G H | 255928 | 284271 | | | | ORPHA | 1 | | 104 | 23143 | 610949 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SYT14 CL E G H | 255928 | 614229 | Spinocerebellar ataxia, autosomal recessive 11 | 614229 | C3280226 | OMIM | 1 | | 104 | 23143 | 610949 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SYT14 CL E G H | 255928 | 614229 | Spinocerebellar ataxia, autosomal recessive 11 | 614229 | C3280226 | OMIM | 1 | | 104 | 23143 | 610949 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SYT14 CL E G H | 255928 | 614229 | Spinocerebellar ataxia, autosomal recessive 11 | 614229 | C3280226 | OMIM | 1 | | 104 | 23143 | 610949 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TACO1 CL E G H | 51204 | 255241 | | | | ORPHA | 1 | | 117 | 24316 | 612958 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TACO1 CL E G H | 51204 | 255241 | | | | ORPHA | 1 | | 117 | 24316 | 612958 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TACO1 CL E G H | 51204 | 255241 | | | | ORPHA | 1 | | 117 | 24316 | 612958 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TANGO2 CL E G H | 128989 | 616878 | TANGO2-Related Metabolic Encephalopathy and Arrhythmias | 616878 | C4225171 | OMIM | 1 | | 715 | 25439 | 616830 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TANGO2 CL E G H | 128989 | 616878 | TANGO2-Related Metabolic Encephalopathy and Arrhythmias | 616878 | C4225171 | OMIM | 1 | | 715 | 25439 | 616830 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TANGO2 CL E G H | 128989 | 616878 | TANGO2-Related Metabolic Encephalopathy and Arrhythmias | 616878 | C4225171 | OMIM | 1 | | 715 | 25439 | 616830 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TARDBP CL E G H | 23435 | 612069 | Amyotrophic lateral sclerosis type 10 | 612069 | C2677565 | OMIM | 1 | | 309 | 11571 | 605078 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TARDBP CL E G H | 23435 | 612069 | Amyotrophic lateral sclerosis type 10 | 612069 | C2677565 | OMIM | 1 | | 309 | 11571 | 605078 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TARDBP CL E G H | 23435 | 612069 | Amyotrophic lateral sclerosis type 10 | 612069 | C2677565 | OMIM | 1 | | 309 | 11571 | 605078 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TBC1D23 CL E G H | 55773 | 617695 | PONTOCEREBELLAR HYPOPLASIA, TYPE 11 | 617695 | C4540164 | OMIM | 1 | | 90 | 25622 | 617687 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TBC1D23 CL E G H | 55773 | 617695 | PONTOCEREBELLAR HYPOPLASIA, TYPE 11 | 617695 | C4540164 | OMIM | 1 | | 90 | 25622 | 617687 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TBC1D23 CL E G H | 55773 | 617695 | PONTOCEREBELLAR HYPOPLASIA, TYPE 11 | 617695 | C4540164 | OMIM | 1 | | 90 | 25622 | 617687 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TBC1D24 CL E G H | 57465 | 605021 | Myoclonic epilepsy, familial infantile | 605021 | C0917800 | OMIM | 1 | | 893 | 29203 | 613577 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TBC1D24 CL E G H | 57465 | 605021 | Myoclonic epilepsy, familial infantile | 605021 | C0917800 | OMIM | 1 | | 893 | 29203 | 613577 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TBC1D24 CL E G H | 57465 | 605021 | Myoclonic epilepsy, familial infantile | 605021 | C0917800 | OMIM | 1 | | 893 | 29203 | 613577 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TBCE CL E G H | 6905 | 496756 | | | | ORPHA | 1 | | 456 | 11582 | 604934 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TBCE CL E G H | 6905 | 496756 | | | | ORPHA | 1 | | 456 | 11582 | 604934 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TBCE CL E G H | 6905 | 496756 | | | | ORPHA | 1 | | 456 | 11582 | 604934 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TBCE CL E G H | 6905 | 617207 | Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 | C4310667 | OMIM | 1 | | 456 | 11582 | 604934 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TBCE CL E G H | 6905 | 617207 | Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 | C4310667 | OMIM | 1 | | 456 | 11582 | 604934 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TBCE CL E G H | 6905 | 617207 | Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 | C4310667 | OMIM | 1 | | 456 | 11582 | 604934 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TBK1 CL E G H | 29110 | 616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 616439 | C4225325 | OMIM | 1 | | 382 | 11584 | 604834 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TBK1 CL E G H | 29110 | 616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 616439 | C4225325 | OMIM | 1 | | 382 | 11584 | 604834 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TBK1 CL E G H | 29110 | 616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 616439 | C4225325 | OMIM | 1 | | 382 | 11584 | 604834 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TECPR2 CL E G H | 9895 | 320385 | | | | ORPHA | 1 | | 1137 | 19957 | 615000 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TECPR2 CL E G H | 9895 | 320385 | | | | ORPHA | 1 | | 1137 | 19957 | 615000 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TECPR2 CL E G H | 9895 | 320385 | | | | ORPHA | 1 | | 1137 | 19957 | 615000 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TECPR2 CL E G H | 9895 | 615031 | Spastic paraplegia 49, autosomal recessive | 615031 | C3542549 | OMIM | 1 | | 1137 | 19957 | 615000 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TECPR2 CL E G H | 9895 | 615031 | Spastic paraplegia 49, autosomal recessive | 615031 | C3542549 | OMIM | 1 | | 1137 | 19957 | 615000 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TECPR2 CL E G H | 9895 | 615031 | Spastic paraplegia 49, autosomal recessive | 615031 | C3542549 | OMIM | 1 | | 1137 | 19957 | 615000 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TGM6 CL E G H | 343641 | 613908 | Spinocerebellar ataxia 35 | 613908 | C3888031 | OMIM | 1 | | 393 | 16255 | 613900 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TGM6 CL E G H | 343641 | 613908 | Spinocerebellar ataxia 35 | 613908 | C3888031 | OMIM | 1 | | 393 | 16255 | 613900 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TGM6 CL E G H | 343641 | 613908 | Spinocerebellar ataxia 35 | 613908 | C3888031 | OMIM | 1 | | 393 | 16255 | 613900 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | THAP1 CL E G H | 55145 | 98806 | | | | ORPHA | 1 | | 206 | 20856 | 609520 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | THAP1 CL E G H | 55145 | 98806 | | | | ORPHA | 1 | | 206 | 20856 | 609520 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | THAP1 CL E G H | 55145 | 98806 | | | | ORPHA | 1 | | 206 | 20856 | 609520 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | THAP1 CL E G H | 55145 | 602629 | Dystonia 6, torsion | 602629 | C1414216 | OMIM | 1 | | 206 | 20856 | 609520 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | THAP1 CL E G H | 55145 | 602629 | Dystonia 6, torsion | 602629 | C1414216 | OMIM | 1 | | 206 | 20856 | 609520 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | THAP1 CL E G H | 55145 | 602629 | Dystonia 6, torsion | 602629 | C1414216 | OMIM | 1 | | 206 | 20856 | 609520 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TIMM8A CL E G H | 1678 | 304700 | Mohr-Tranebjaerg syndrome | 304700 | C0796074 | OMIM | 1 | | 227 | 11817 | 300356 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TIMM8A CL E G H | 1678 | 304700 | Mohr-Tranebjaerg syndrome | 304700 | C0796074 | OMIM | 1 | | 227 | 11817 | 300356 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TIMM8A CL E G H | 1678 | 304700 | Mohr-Tranebjaerg syndrome | 304700 | C0796074 | OMIM | 1 | | 227 | 11817 | 300356 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TK2 CL E G H | 7084 | 617069 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | 617069 | C4310734 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TK2 CL E G H | 7084 | 617069 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | 617069 | C4310734 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TK2 CL E G H | 7084 | 617069 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | 617069 | C4310734 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TMEM106B CL E G H | 54664 | 617964 | LEUKODYSTROPHY, HYPOMYELINATING, 16 | 617964 | CN244907 | OMIM | 1 | | 128 | 22407 | 613413 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TMEM106B CL E G H | 54664 | 617964 | LEUKODYSTROPHY, HYPOMYELINATING, 16 | 617964 | CN244907 | OMIM | 1 | | 128 | 22407 | 613413 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TMEM106B CL E G H | 54664 | 617964 | LEUKODYSTROPHY, HYPOMYELINATING, 16 | 617964 | CN244907 | OMIM | 1 | | 128 | 22407 | 613413 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TMEM240 CL E G H | 339453 | 98773 | | | | ORPHA | 1 | | 237 | 25186 | 616101 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TMEM240 CL E G H | 339453 | 98773 | | | | ORPHA | 1 | | 237 | 25186 | 616101 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TMEM240 CL E G H | 339453 | 98773 | | | | ORPHA | 1 | | 237 | 25186 | 616101 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TMEM240 CL E G H | 339453 | 607454 | Spinocerebellar ataxia 21 | 607454 | C1843891 | OMIM | 1 | | 237 | 25186 | 616101 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TMEM240 CL E G H | 339453 | 607454 | Spinocerebellar ataxia 21 | 607454 | C1843891 | OMIM | 1 | | 237 | 25186 | 616101 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TMEM240 CL E G H | 339453 | 607454 | Spinocerebellar ataxia 21 | 607454 | C1843891 | OMIM | 1 | | 237 | 25186 | 616101 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TOP3A CL E G H | 7156 | 618098 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 | 618098 | CN253818 | OMIM | 1 | | 390 | 11992 | 601243 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TOP3A CL E G H | 7156 | 618098 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 | 618098 | CN253818 | OMIM | 1 | | 390 | 11992 | 601243 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TOP3A CL E G H | 7156 | 618098 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 | 618098 | CN253818 | OMIM | 1 | | 390 | 11992 | 601243 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TOR1A CL E G H | 1861 | 128100 | Dystonia 1 | 128100 | C1851945 | OMIM | 1 | | 220 | 3098 | 605204 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TOR1A CL E G H | 1861 | 128100 | Dystonia 1 | 128100 | C1851945 | OMIM | 1 | | 220 | 3098 | 605204 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TOR1A CL E G H | 1861 | 128100 | Dystonia 1 | 128100 | C1851945 | OMIM | 1 | | 220 | 3098 | 605204 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TPP1 CL E G H | 1200 | 284324 | | | | ORPHA | 1 | | 1023 | 2073 | 607998 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TPP1 CL E G H | 1200 | 284324 | | | | ORPHA | 1 | | 1023 | 2073 | 607998 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TPP1 CL E G H | 1200 | 284324 | | | | ORPHA | 1 | | 1023 | 2073 | 607998 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TPP1 CL E G H | 1200 | 609270 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | 609270 | C1836474 | OMIM | 1 | | 1023 | 2073 | 607998 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TPP1 CL E G H | 1200 | 609270 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | 609270 | C1836474 | OMIM | 1 | | 1023 | 2073 | 607998 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TPP1 CL E G H | 1200 | 609270 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | 609270 | C1836474 | OMIM | 1 | | 1023 | 2073 | 607998 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TRAPPC11 CL E G H | 60684 | 615356 | Limb-girdle muscular dystrophy, type 2S | 615356 | C3809236 | OMIM | 1 | | 983 | 25751 | 614138 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TRAPPC11 CL E G H | 60684 | 615356 | Limb-girdle muscular dystrophy, type 2S | 615356 | C3809236 | OMIM | 1 | | 983 | 25751 | 614138 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TRAPPC11 CL E G H | 60684 | 615356 | Limb-girdle muscular dystrophy, type 2S | 615356 | C3809236 | OMIM | 1 | | 983 | 25751 | 614138 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TREX1 CL E G H | 11277 | 247691 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TREX1 CL E G H | 11277 | 247691 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TREX1 CL E G H | 11277 | 247691 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TREX1 CL E G H | 11277 | 192315 | Vasculopathy, retinal, with cerebral leukodystrophy | 192315 | C1860518 | OMIM | 1 | | 418 | 12269 | 606609 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TREX1 CL E G H | 11277 | 192315 | Vasculopathy, retinal, with cerebral leukodystrophy | 192315 | C1860518 | OMIM | 1 | | 418 | 12269 | 606609 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TREX1 CL E G H | 11277 | 192315 | Vasculopathy, retinal, with cerebral leukodystrophy | 192315 | C1860518 | OMIM | 1 | | 418 | 12269 | 606609 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TRIM37 CL E G H | 4591 | 253250 | Mulibrey nanism syndrome | 253250 | C0524582 | OMIM | 1 | | 374 | 7523 | 605073 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TRIM37 CL E G H | 4591 | 253250 | Mulibrey nanism syndrome | 253250 | C0524582 | OMIM | 1 | | 374 | 7523 | 605073 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TRIM37 CL E G H | 4591 | 253250 | Mulibrey nanism syndrome | 253250 | C0524582 | OMIM | 1 | | 374 | 7523 | 605073 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TTBK2 CL E G H | 146057 | 98767 | | | | ORPHA | 1 | | 338 | 19141 | 611695 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TTBK2 CL E G H | 146057 | 98767 | | | | ORPHA | 1 | | 338 | 19141 | 611695 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TTBK2 CL E G H | 146057 | 98767 | | | | ORPHA | 1 | | 338 | 19141 | 611695 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TTBK2 CL E G H | 146057 | 604432 | Spinocerebellar ataxia 11 | 604432 | C1858351 | OMIM | 1 | | 338 | 19141 | 611695 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TTBK2 CL E G H | 146057 | 604432 | Spinocerebellar ataxia 11 | 604432 | C1858351 | OMIM | 1 | | 338 | 19141 | 611695 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TTBK2 CL E G H | 146057 | 604432 | Spinocerebellar ataxia 11 | 604432 | C1858351 | OMIM | 1 | | 338 | 19141 | 611695 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TTC19 CL E G H | 54902 | 615157 | Mitochondrial complex III deficiency, nuclear type 2 | 615157 | C3554605 | OMIM | 1 | | 343 | 26006 | 613814 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TTC19 CL E G H | 54902 | 615157 | Mitochondrial complex III deficiency, nuclear type 2 | 615157 | C3554605 | OMIM | 1 | | 343 | 26006 | 613814 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TTC19 CL E G H | 54902 | 615157 | Mitochondrial complex III deficiency, nuclear type 2 | 615157 | C3554605 | OMIM | 1 | | 343 | 26006 | 613814 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 1 | | 389 | 12404 | 600415 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 1 | | 389 | 12404 | 600415 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 1 | | 389 | 12404 | 600415 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TTR CL E G H | 7276 | 105210 | Amyloidogenic transthyretin amyloidosis | 105210 | C2751492 | OMIM | 1 | | 377 | 12405 | 176300 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TTR CL E G H | 7276 | 105210 | Amyloidogenic transthyretin amyloidosis | 105210 | C2751492 | OMIM | 1 | | 377 | 12405 | 176300 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TTR CL E G H | 7276 | 105210 | Amyloidogenic transthyretin amyloidosis | 105210 | C2751492 | OMIM | 1 | | 377 | 12405 | 176300 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TUBB4A CL E G H | 10382 | 612438 | Leukodystrophy, hypomyelinating, 6 | 612438 | C2676244 | OMIM | 1 | | 272 | 20774 | 602662 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TUBB4A CL E G H | 10382 | 612438 | Leukodystrophy, hypomyelinating, 6 | 612438 | C2676244 | OMIM | 1 | | 272 | 20774 | 602662 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TUBB4A CL E G H | 10382 | 612438 | Leukodystrophy, hypomyelinating, 6 | 612438 | C2676244 | OMIM | 1 | | 272 | 20774 | 602662 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TWNK CL E G H | 56652 | 70595 | | | | ORPHA | 1 | | 450 | 1160 | 606075 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TWNK CL E G H | 56652 | 70595 | | | | ORPHA | 1 | | 450 | 1160 | 606075 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TWNK CL E G H | 56652 | 70595 | | | | ORPHA | 1 | | 450 | 1160 | 606075 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TWNK CL E G H | 56652 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TWNK CL E G H | 56652 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TWNK CL E G H | 56652 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | UBA5 CL E G H | 79876 | 617133 | Spinocerebellar ataxia, autosomal recessive 24 | 617133 | C4310699 | OMIM | 1 | | 223 | 23230 | 610552 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | UBA5 CL E G H | 79876 | 617133 | Spinocerebellar ataxia, autosomal recessive 24 | 617133 | C4310699 | OMIM | 1 | | 223 | 23230 | 610552 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | UBA5 CL E G H | 79876 | 617133 | Spinocerebellar ataxia, autosomal recessive 24 | 617133 | C4310699 | OMIM | 1 | | 223 | 23230 | 610552 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | UBQLN2 CL E G H | 29978 | 300857 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | 300857 | C3275459 | OMIM | 1 | | 273 | 12509 | 300264 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | UBQLN2 CL E G H | 29978 | 300857 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | 300857 | C3275459 | OMIM | 1 | | 273 | 12509 | 300264 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | UBQLN2 CL E G H | 29978 | 300857 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | 300857 | C3275459 | OMIM | 1 | | 273 | 12509 | 300264 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | UROC1 CL E G H | 131669 | 210128 | | | | ORPHA | 1 | | 122 | 26444 | 613012 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | UROC1 CL E G H | 131669 | 210128 | | | | ORPHA | 1 | | 122 | 26444 | 613012 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | UROC1 CL E G H | 131669 | 210128 | | | | ORPHA | 1 | | 122 | 26444 | 613012 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | VAMP1 CL E G H | 6843 | 108600 | Ataxia, spastic, 1, autosomal dominant | 108600 | C1970107 | OMIM | 1 | | 141 | 12642 | 185880 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | VAMP1 CL E G H | 6843 | 108600 | Ataxia, spastic, 1, autosomal dominant | 108600 | C1970107 | OMIM | 1 | | 141 | 12642 | 185880 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | VAMP1 CL E G H | 6843 | 108600 | Ataxia, spastic, 1, autosomal dominant | 108600 | C1970107 | OMIM | 1 | | 141 | 12642 | 185880 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 1 | | 359 | 12649 | 605704 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 1 | | 359 | 12649 | 605704 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 1 | | 359 | 12649 | 605704 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | VCP CL E G H | 7415 | 613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | 613954 | C3151403 | OMIM | 1 | | 607 | 12666 | 601023 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | VCP CL E G H | 7415 | 613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | 613954 | C3151403 | OMIM | 1 | | 607 | 12666 | 601023 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | VCP CL E G H | 7415 | 613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | 613954 | C3151403 | OMIM | 1 | | 607 | 12666 | 601023 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | VLDLR CL E G H | 7436 | 224050 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | 224050 | CN074243 | OMIM | 1 | | 575 | 12698 | 192977 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | VLDLR CL E G H | 7436 | 224050 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | 224050 | CN074243 | OMIM | 1 | | 575 | 12698 | 192977 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | VLDLR CL E G H | 7436 | 224050 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | 224050 | CN074243 | OMIM | 1 | | 575 | 12698 | 192977 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | VPS13A CL E G H | 23230 | 2388 | | | | ORPHA | 1 | | 2362 | 1908 | 605978 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | VPS13A CL E G H | 23230 | 2388 | | | | ORPHA | 1 | | 2362 | 1908 | 605978 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | VPS13A CL E G H | 23230 | 2388 | | | | ORPHA | 1 | | 2362 | 1908 | 605978 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | VPS13A CL E G H | 23230 | 200150 | Choreoacanthocytosis | 200150 | C0393576 | OMIM | 1 | | 2362 | 1908 | 605978 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | VPS13A CL E G H | 23230 | 200150 | Choreoacanthocytosis | 200150 | C0393576 | OMIM | 1 | | 2362 | 1908 | 605978 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | VPS13A CL E G H | 23230 | 200150 | Choreoacanthocytosis | 200150 | C0393576 | OMIM | 1 | | 2362 | 1908 | 605978 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | VWA3B CL E G H | 200403 | 616948 | Spinocerebellar ataxia, autosomal recessive 22 | 616948 | C4310781 | OMIM | 1 | | 126 | 28385 | 614884 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | VWA3B CL E G H | 200403 | 616948 | Spinocerebellar ataxia, autosomal recessive 22 | 616948 | C4310781 | OMIM | 1 | | 126 | 28385 | 614884 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | VWA3B CL E G H | 200403 | 616948 | Spinocerebellar ataxia, autosomal recessive 22 | 616948 | C4310781 | OMIM | 1 | | 126 | 28385 | 614884 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | WDR73 CL E G H | 84942 | 83472 | | | | ORPHA | 1 | | 220 | 25928 | 616144 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | WDR73 CL E G H | 84942 | 83472 | | | | ORPHA | 1 | | 220 | 25928 | 616144 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | WDR73 CL E G H | 84942 | 83472 | | | | ORPHA | 1 | | 220 | 25928 | 616144 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | WDR81 CL E G H | 124997 | 610185 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | 610185 | C2750234 | OMIM | 1 | | 420 | 26600 | 614218 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | WDR81 CL E G H | 124997 | 610185 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | 610185 | C2750234 | OMIM | 1 | | 420 | 26600 | 614218 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | WDR81 CL E G H | 124997 | 610185 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | 610185 | C2750234 | OMIM | 1 | | 420 | 26600 | 614218 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | WFS1 CL E G H | 7466 | 222300 | Diabetes mellitus AND insipidus with optic atrophy AND deafness | 222300 | C0043207 | OMIM | 1 | | 1634 | 12762 | 606201 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | WFS1 CL E G H | 7466 | 222300 | Diabetes mellitus AND insipidus with optic atrophy AND deafness | 222300 | C0043207 | OMIM | 1 | | 1634 | 12762 | 606201 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | WFS1 CL E G H | 7466 | 222300 | Diabetes mellitus AND insipidus with optic atrophy AND deafness | 222300 | C0043207 | OMIM | 1 | | 1634 | 12762 | 606201 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | WWOX CL E G H | 51741 | 284282 | | | | ORPHA | 1 | | 1102 | 12799 | 605131 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | WWOX CL E G H | 51741 | 284282 | | | | ORPHA | 1 | | 1102 | 12799 | 605131 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | WWOX CL E G H | 51741 | 284282 | | | | ORPHA | 1 | | 1102 | 12799 | 605131 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | WWOX CL E G H | 51741 | 614322 | Spinocerebellar ataxia, autosomal recessive 12 | 614322 | C3280452 | OMIM | 1 | | 1102 | 12799 | 605131 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | WWOX CL E G H | 51741 | 614322 | Spinocerebellar ataxia, autosomal recessive 12 | 614322 | C3280452 | OMIM | 1 | | 1102 | 12799 | 605131 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | WWOX CL E G H | 51741 | 614322 | Spinocerebellar ataxia, autosomal recessive 12 | 614322 | C3280452 | OMIM | 1 | | 1102 | 12799 | 605131 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | XK CL E G H | 7504 | 300842 | McLeod neuroacanthocytosis syndrome | 300842 | C0398568 | OMIM | 1 | | 218 | 12811 | 314850 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | XK CL E G H | 7504 | 300842 | McLeod neuroacanthocytosis syndrome | 300842 | C0398568 | OMIM | 1 | | 218 | 12811 | 314850 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | XK CL E G H | 7504 | 300842 | McLeod neuroacanthocytosis syndrome | 300842 | C0398568 | OMIM | 1 | | 218 | 12811 | 314850 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | XPR1 CL E G H | 9213 | 616413 | Basal ganglia calcification, idiopathic, 6 | 616413 | C4225335 | OMIM | 1 | | 234 | 12827 | 605237 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | XPR1 CL E G H | 9213 | 616413 | Basal ganglia calcification, idiopathic, 6 | 616413 | C4225335 | OMIM | 1 | | 234 | 12827 | 605237 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | XPR1 CL E G H | 9213 | 616413 | Basal ganglia calcification, idiopathic, 6 | 616413 | C4225335 | OMIM | 1 | | 234 | 12827 | 605237 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | XRCC1 CL E G H | 7515 | 617633 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 | 617633 | C4539948 | OMIM | 1 | | 82 | 12828 | 194360 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | XRCC1 CL E G H | 7515 | 617633 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 | 617633 | C4539948 | OMIM | 1 | | 82 | 12828 | 194360 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | XRCC1 CL E G H | 7515 | 617633 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 | 617633 | C4539948 | OMIM | 1 | | 82 | 12828 | 194360 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | XRCC4 CL E G H | 7518 | 616541 | Short stature, microcephaly, and endocrine dysfunction | 616541 | C4225288 | OMIM | 1 | | 129 | 12831 | 194363 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | XRCC4 CL E G H | 7518 | 616541 | Short stature, microcephaly, and endocrine dysfunction | 616541 | C4225288 | OMIM | 1 | | 129 | 12831 | 194363 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | XRCC4 CL E G H | 7518 | 616541 | Short stature, microcephaly, and endocrine dysfunction | 616541 | C4225288 | OMIM | 1 | | 129 | 12831 | 194363 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ZFYVE26 CL E G H | 23503 | 270700 | Spastic paraplegia 15 | 270700 | C1849128 | OMIM | 1 | | 2408 | 20761 | 612012 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ZFYVE26 CL E G H | 23503 | 270700 | Spastic paraplegia 15 | 270700 | C1849128 | OMIM | 1 | | 2408 | 20761 | 612012 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ZFYVE26 CL E G H | 23503 | 270700 | Spastic paraplegia 15 | 270700 | C1849128 | OMIM | 1 | | 2408 | 20761 | 612012 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ZNF592 CL E G H | 9640 | 83472 | | | | ORPHA | 1 | | 128 | 28986 | 613624 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ZNF592 CL E G H | 9640 | 83472 | | | | ORPHA | 1 | | 128 | 28986 | 613624 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ZNF592 CL E G H | 9640 | 83472 | | | | ORPHA | 1 | | 128 | 28986 | 613624 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ANOS1 CL E G H | 3730 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 470 | 6211 | 300836 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATL1 CL E G H | 51062 | 100984 | | | | ORPHA | 0 | | 517 | 11231 | 606439 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 0 | | 974 | 30213 | 610513 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 0 | | 974 | 30213 | 610513 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 0 | | 65 | 7106 | 607047 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 0 | | 98 | 10560 | 607640 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 249 | 961 | 605681 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | BIN1 CL E G H | 274 | 169186 | | | | ORPHA | 0 | | 656 | 1052 | 601248 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 1182 | 1097 | 164757 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CACNA1A CL E G H | 773 | 98758 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CACNA1G CL E G H | 8913 | 616795 | Spinocerebellar ataxia 42 | 616795 | C4225205 | OMIM | 0 | | 822 | 1394 | 604065 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CAPN1 CL E G H | 823 | 616907 | Spastic paraplegia 76, autosomal recessive | 616907 | C4310800 | OMIM | 0 | | 248 | 1476 | 114220 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CCDC141 CL E G H | 285025 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 281 | 26821 | 616031 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CHD7 CL E G H | 55636 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 2930 | 20626 | 608892 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CLIP2 CL E G H | 7461 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 229 | 2586 | 603432 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CLN5 CL E G H | 1203 | 256731 | Ceroid lipofuscinosis neuronal 5 | 256731 | C1850442 | OMIM | 0 | | 702 | 2076 | 608102 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | COQ2 CL E G H | 27235 | 98933 | | | | ORPHA | 0 | | 346 | 25223 | 609825 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 0 | | 831 | 2295 | 117700 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 0 | | 206 | 2309 | 605032 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | CYP7B1 CL E G H | 9420 | 100986 | | | | ORPHA | 0 | | 415 | 2652 | 603711 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | DARS2 CL E G H | 55157 | 611105 | Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation | 611105 | C1970180 | OMIM | 0 | | 397 | 25538 | 610956 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | DCC CL E G H | 1630 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 259 | 2701 | 120470 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | DUSP6 CL E G H | 1848 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 66 | 3072 | 602748 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ELN CL E G H | 2006 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 966 | 3327 | 130160 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 0 | | 744 | 11529 | 185535 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | ERLIN1 CL E G H | 10613 | 615681 | Spastic paraplegia 62, autosomal recessive | 615681 | C4284588 | OMIM | 0 | | 136 | 16947 | 611604 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 0 | | 482 | 29170 | 613534 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | FEZF1 CL E G H | 389549 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 109 | 22788 | 613301 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | FGF14 CL E G H | 2259 | 609307 | Spinocerebellar ataxia 27 | 609307 | C1836383 | OMIM | 0 | | 251 | 3671 | 601515 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | FGF17 CL E G H | 8822 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 119 | 3673 | 603725 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | FGF8 CL E G H | 2253 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 98 | 3686 | 600483 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | FGFR1 CL E G H | 2260 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 936 | 3688 | 136350 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | FGFR3 CL E G H | 2261 | 15 | Antisocial personality disorder | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | FLRT3 CL E G H | 23767 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 77 | 3762 | 604808 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | GALT CL E G H | 2592 | 79239 | | | | ORPHA | 0 | | 719 | 4135 | 606999 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | GJB1 CL E G H | 2705 | 101075 | | | | ORPHA | 0 | | 860 | 4283 | 304040 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | GTF2I CL E G H | 2969 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 178 | 4659 | 601679 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | GTF2IRD1 CL E G H | 9569 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 266 | 4661 | 604318 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | HESX1 CL E G H | 8820 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 112 | 4877 | 601802 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | HS6ST1 CL E G H | 9394 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 112 | 5201 | 604846 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | HSD17B4 CL E G H | 3295 | 233400 | Perrault syndrome 1 | 233400 | | OMIM | 0 | | 983 | 5213 | 601860 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | IL17RD CL E G H | 54756 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 163 | 17616 | 606807 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | JAK2 CL E G H | 3717 | 71493 | | | | ORPHA | 0 | | 412 | 6192 | 147796 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | KCND3 CL E G H | 3752 | 98772 | | | | ORPHA | 0 | | 467 | 6239 | 605411 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | KISS1R CL E G H | 84634 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 154 | 4510 | 604161 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | KRAS CL E G H | 3845 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | LIMK1 CL E G H | 3984 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 232 | 6613 | 601329 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | LMNB1 CL E G H | 4001 | 99027 | | | | ORPHA | 0 | | 241 | 6637 | 150340 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MAP2K1 CL E G H | 5604 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 493 | 6840 | 176872 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MAP2K2 CL E G H | 5605 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 720 | 6842 | 601263 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MARS2 CL E G H | 92935 | 611390 | Ataxia, spastic, 3, autosomal recessive | 611390 | C1969645 | OMIM | 0 | | 204 | 25133 | 609728 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 0 | | 5122 | 7127 | 120436 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 0 | | 2210 | 7128 | 604395 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MPL CL E G H | 4352 | 71493 | | | | ORPHA | 0 | | 562 | 7217 | 159530 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 0 | | 6856 | 7325 | 609309 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 0 | | 8438 | 7329 | 600678 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 0 | | | 7419 | 516030 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 0 | | | 7421 | 516040 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 0 | | | 7422 | 516050 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 0 | | | 7455 | 516000 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 0 | | | 7459 | 516003 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 0 | | | 7461 | 516005 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 0 | | | 7462 | 516006 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MT-TE CL E G H | 4556 | 2596 | Hantavirosis | | | ORPHA | 0 | | | 7479 | 590025 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 0 | | | 7481 | 590070 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 0 | | | 7487 | 590040 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 0 | | | 7490 | 590050 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 0 | | | 7495 | 590030 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 0 | | | 7497 | 590080 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 0 | | | 7498 | 590085 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 0 | | | 7501 | 590095 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NARS2 CL E G H | 79731 | 616239 | Combined oxidative phosphorylation deficiency 24 | 616239 | C4015643 | OMIM | 0 | | 302 | 26274 | 612803 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NKX2-1 CL E G H | 7080 | 118700 | Benign hereditary chorea | 118700 | C0393584 | OMIM | 0 | | 317 | 11825 | 600635 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NOP56 CL E G H | 10528 | 614153 | Spinocerebellar ataxia 36 | 614153 | C3472711 | OMIM | 0 | | 67 | 15911 | 614154 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NSMF CL E G H | 26012 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 197 | 29843 | 608137 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | NUS1 CL E G H | 116150 | 617831 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES | 617831 | CN757796 | OMIM | 0 | | 326 | 21042 | 610463 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PIEZO2 CL E G H | 63895 | 617146 | Arthrogryposis, distal, with impaired proprioception and touch | 617146 | C4310692 | OMIM | 0 | | 978 | 26270 | 613629 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 0 | | 1159 | 8975 | 171834 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PLP1 CL E G H | 5354 | 99015 | | | | ORPHA | 0 | | 451 | 9086 | 300401 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 0 | | 125 | 9121 | 600258 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 0 | | 4719 | 9122 | 600259 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | POLG CL E G H | 5428 | 94125 | Recessive mitochondrial ataxia syndrome | | CN206743 | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 0 | | 357 | 9180 | 604983 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PRKCG CL E G H | 5582 | 98763 | | | | ORPHA | 0 | | 323 | 9402 | 176980 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PROK2 CL E G H | 60675 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 65 | 18455 | 607002 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PROKR2 CL E G H | 128674 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 160 | 15836 | 607123 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | PRPS1 CL E G H | 5631 | 99014 | | | | ORPHA | 0 | | 415 | 9462 | 311850 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | REEP1 CL E G H | 65055 | 101011 | | | | ORPHA | 0 | | 434 | 25786 | 609139 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | RFC2 CL E G H | 5982 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 200 | 9970 | 600404 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | RTTN CL E G H | 25914 | 614833 | Microcephaly, short stature, and polymicrogyria with or without seizures | 614833 | C3553831 | OMIM | 0 | | 1206 | 18654 | 610436 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | RYR1 CL E G H | 6261 | 169186 | | | | ORPHA | 0 | | 6164 | 10483 | 180901 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SCN8A CL E G H | 6334 | 614306 | Cognitive impairment with or without cerebellar ataxia | 614306 | C3280415 | OMIM | 0 | | 1799 | 10596 | 600702 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SEMA3A CL E G H | 10371 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 214 | 10723 | 603961 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SETX CL E G H | 23064 | 606002 | Spinocerebellar ataxia autosomal recessive 1 | 606002 | C1853761 | OMIM | 0 | | 1556 | 445 | 608465 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 0 | | 333 | 10990 | 103220 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SOX10 CL E G H | 6663 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 378 | 11190 | 602229 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SPAST CL E G H | 6683 | 100985 | | | | ORPHA | 0 | | 1215 | 11233 | 604277 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SPEG CL E G H | 10290 | 169186 | | | | ORPHA | 0 | | 1482 | 16901 | 615950 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SPG21 CL E G H | 51324 | 248900 | Mast syndrome | 248900 | C1855346 | OMIM | 0 | | 162 | 20373 | 608181 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SPG7 CL E G H | 6687 | 99013 | | | | ORPHA | 0 | | 966 | 11237 | 602783 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | SPRY4 CL E G H | 81848 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 78 | 15533 | 607984 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TACR3 CL E G H | 6870 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 132 | 11528 | 162332 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 0 | | 893 | 29203 | 613577 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TBL2 CL E G H | 26608 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 194 | 11586 | 605842 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 0 | | 948 | 11773 | 190182 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | THPO CL E G H | 7066 | 71493 | | | | ORPHA | 0 | | 149 | 11795 | 600044 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TK2 CL E G H | 7084 | 254875 | | | | ORPHA | 0 | | 442 | 11831 | 188250 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TTN CL E G H | 7273 | 169186 | | | | ORPHA | 0 | | 27503 | 12403 | 188840 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 320 | 20772 | 602661 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 0 | | 450 | 1160 | 606075 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 0 | | 450 | 1160 | 606075 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | VCP CL E G H | 7415 | 435387 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0001260 | HP:0001260 | Dysarthria | 0 | WDR11 CL E G H | 55717 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 369 | 13831 | 606417 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ANOS1 CL E G H | 3730 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 470 | 6211 | 300836 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ANOS1 CL E G H | 3730 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 470 | 6211 | 300836 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ANOS1 CL E G H | 3730 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 470 | 6211 | 300836 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATL1 CL E G H | 51062 | 100984 | | | | ORPHA | 0 | | 517 | 11231 | 606439 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATL1 CL E G H | 51062 | 100984 | | | | ORPHA | 0 | | 517 | 11231 | 606439 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATL1 CL E G H | 51062 | 100984 | | | | ORPHA | 0 | | 517 | 11231 | 606439 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 0 | | 974 | 30213 | 610513 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 0 | | 974 | 30213 | 610513 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 0 | | 974 | 30213 | 610513 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 0 | | 974 | 30213 | 610513 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 0 | | 974 | 30213 | 610513 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 0 | | 974 | 30213 | 610513 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 0 | | 65 | 7106 | 607047 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 0 | | 65 | 7106 | 607047 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 0 | | 65 | 7106 | 607047 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 0 | | 98 | 10560 | 607640 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 0 | | 98 | 10560 | 607640 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 0 | | 98 | 10560 | 607640 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 249 | 961 | 605681 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 249 | 961 | 605681 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 249 | 961 | 605681 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | BIN1 CL E G H | 274 | 169186 | | | | ORPHA | 0 | | 656 | 1052 | 601248 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | BIN1 CL E G H | 274 | 169186 | | | | ORPHA | 0 | | 656 | 1052 | 601248 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | BIN1 CL E G H | 274 | 169186 | | | | ORPHA | 0 | | 656 | 1052 | 601248 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 1182 | 1097 | 164757 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 1182 | 1097 | 164757 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 1182 | 1097 | 164757 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CACNA1A CL E G H | 773 | 98758 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CACNA1A CL E G H | 773 | 98758 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CACNA1A CL E G H | 773 | 98758 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CACNA1G CL E G H | 8913 | 616795 | Spinocerebellar ataxia 42 | 616795 | C4225205 | OMIM | 0 | | 822 | 1394 | 604065 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CACNA1G CL E G H | 8913 | 616795 | Spinocerebellar ataxia 42 | 616795 | C4225205 | OMIM | 0 | | 822 | 1394 | 604065 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CACNA1G CL E G H | 8913 | 616795 | Spinocerebellar ataxia 42 | 616795 | C4225205 | OMIM | 0 | | 822 | 1394 | 604065 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CAPN1 CL E G H | 823 | 616907 | Spastic paraplegia 76, autosomal recessive | 616907 | C4310800 | OMIM | 0 | | 248 | 1476 | 114220 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CAPN1 CL E G H | 823 | 616907 | Spastic paraplegia 76, autosomal recessive | 616907 | C4310800 | OMIM | 0 | | 248 | 1476 | 114220 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CAPN1 CL E G H | 823 | 616907 | Spastic paraplegia 76, autosomal recessive | 616907 | C4310800 | OMIM | 0 | | 248 | 1476 | 114220 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CCDC141 CL E G H | 285025 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 281 | 26821 | 616031 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CCDC141 CL E G H | 285025 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 281 | 26821 | 616031 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CCDC141 CL E G H | 285025 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 281 | 26821 | 616031 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CHD7 CL E G H | 55636 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 2930 | 20626 | 608892 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CHD7 CL E G H | 55636 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 2930 | 20626 | 608892 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CHD7 CL E G H | 55636 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 2930 | 20626 | 608892 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CLIP2 CL E G H | 7461 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 229 | 2586 | 603432 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CLIP2 CL E G H | 7461 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 229 | 2586 | 603432 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CLIP2 CL E G H | 7461 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 229 | 2586 | 603432 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CLN5 CL E G H | 1203 | 256731 | Ceroid lipofuscinosis neuronal 5 | 256731 | C1850442 | OMIM | 0 | | 702 | 2076 | 608102 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CLN5 CL E G H | 1203 | 256731 | Ceroid lipofuscinosis neuronal 5 | 256731 | C1850442 | OMIM | 0 | | 702 | 2076 | 608102 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CLN5 CL E G H | 1203 | 256731 | Ceroid lipofuscinosis neuronal 5 | 256731 | C1850442 | OMIM | 0 | | 702 | 2076 | 608102 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | COQ2 CL E G H | 27235 | 98933 | | | | ORPHA | 0 | | 346 | 25223 | 609825 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | COQ2 CL E G H | 27235 | 98933 | | | | ORPHA | 0 | | 346 | 25223 | 609825 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | COQ2 CL E G H | 27235 | 98933 | | | | ORPHA | 0 | | 346 | 25223 | 609825 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 0 | | 831 | 2295 | 117700 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 0 | | 831 | 2295 | 117700 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 0 | | 831 | 2295 | 117700 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 0 | | 206 | 2309 | 605032 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 0 | | 206 | 2309 | 605032 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 0 | | 206 | 2309 | 605032 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | CYP7B1 CL E G H | 9420 | 100986 | | | | ORPHA | 0 | | 415 | 2652 | 603711 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | CYP7B1 CL E G H | 9420 | 100986 | | | | ORPHA | 0 | | 415 | 2652 | 603711 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | CYP7B1 CL E G H | 9420 | 100986 | | | | ORPHA | 0 | | 415 | 2652 | 603711 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | DARS2 CL E G H | 55157 | 611105 | Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation | 611105 | C1970180 | OMIM | 0 | | 397 | 25538 | 610956 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | DARS2 CL E G H | 55157 | 611105 | Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation | 611105 | C1970180 | OMIM | 0 | | 397 | 25538 | 610956 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | DARS2 CL E G H | 55157 | 611105 | Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation | 611105 | C1970180 | OMIM | 0 | | 397 | 25538 | 610956 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | DCC CL E G H | 1630 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 259 | 2701 | 120470 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | DCC CL E G H | 1630 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 259 | 2701 | 120470 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | DCC CL E G H | 1630 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 259 | 2701 | 120470 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | DUSP6 CL E G H | 1848 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 66 | 3072 | 602748 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | DUSP6 CL E G H | 1848 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 66 | 3072 | 602748 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | DUSP6 CL E G H | 1848 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 66 | 3072 | 602748 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ELN CL E G H | 2006 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 966 | 3327 | 130160 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ELN CL E G H | 2006 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 966 | 3327 | 130160 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ELN CL E G H | 2006 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 966 | 3327 | 130160 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 0 | | 744 | 11529 | 185535 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 0 | | 744 | 11529 | 185535 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 0 | | 744 | 11529 | 185535 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | ERLIN1 CL E G H | 10613 | 615681 | Spastic paraplegia 62, autosomal recessive | 615681 | C4284588 | OMIM | 0 | | 136 | 16947 | 611604 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | ERLIN1 CL E G H | 10613 | 615681 | Spastic paraplegia 62, autosomal recessive | 615681 | C4284588 | OMIM | 0 | | 136 | 16947 | 611604 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | ERLIN1 CL E G H | 10613 | 615681 | Spastic paraplegia 62, autosomal recessive | 615681 | C4284588 | OMIM | 0 | | 136 | 16947 | 611604 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 0 | | 482 | 29170 | 613534 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 0 | | 482 | 29170 | 613534 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 0 | | 482 | 29170 | 613534 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | FEZF1 CL E G H | 389549 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 109 | 22788 | 613301 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | FEZF1 CL E G H | 389549 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 109 | 22788 | 613301 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | FEZF1 CL E G H | 389549 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 109 | 22788 | 613301 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | FGF14 CL E G H | 2259 | 609307 | Spinocerebellar ataxia 27 | 609307 | C1836383 | OMIM | 0 | | 251 | 3671 | 601515 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | FGF14 CL E G H | 2259 | 609307 | Spinocerebellar ataxia 27 | 609307 | C1836383 | OMIM | 0 | | 251 | 3671 | 601515 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | FGF14 CL E G H | 2259 | 609307 | Spinocerebellar ataxia 27 | 609307 | C1836383 | OMIM | 0 | | 251 | 3671 | 601515 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | FGF17 CL E G H | 8822 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 119 | 3673 | 603725 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | FGF17 CL E G H | 8822 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 119 | 3673 | 603725 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | FGF17 CL E G H | 8822 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 119 | 3673 | 603725 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | FGF8 CL E G H | 2253 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 98 | 3686 | 600483 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | FGF8 CL E G H | 2253 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 98 | 3686 | 600483 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | FGF8 CL E G H | 2253 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 98 | 3686 | 600483 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | FGFR1 CL E G H | 2260 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 936 | 3688 | 136350 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | FGFR1 CL E G H | 2260 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 936 | 3688 | 136350 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | FGFR1 CL E G H | 2260 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 936 | 3688 | 136350 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | FGFR3 CL E G H | 2261 | 15 | Antisocial personality disorder | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | FGFR3 CL E G H | 2261 | 15 | Antisocial personality disorder | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | FGFR3 CL E G H | 2261 | 15 | Antisocial personality disorder | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | FLRT3 CL E G H | 23767 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 77 | 3762 | 604808 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | FLRT3 CL E G H | 23767 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 77 | 3762 | 604808 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | FLRT3 CL E G H | 23767 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 77 | 3762 | 604808 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | GALT CL E G H | 2592 | 79239 | | | | ORPHA | 0 | | 719 | 4135 | 606999 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | GALT CL E G H | 2592 | 79239 | | | | ORPHA | 0 | | 719 | 4135 | 606999 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | GALT CL E G H | 2592 | 79239 | | | | ORPHA | 0 | | 719 | 4135 | 606999 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | GJB1 CL E G H | 2705 | 101075 | | | | ORPHA | 0 | | 860 | 4283 | 304040 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | GJB1 CL E G H | 2705 | 101075 | | | | ORPHA | 0 | | 860 | 4283 | 304040 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | GJB1 CL E G H | 2705 | 101075 | | | | ORPHA | 0 | | 860 | 4283 | 304040 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | GTF2I CL E G H | 2969 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 178 | 4659 | 601679 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | GTF2I CL E G H | 2969 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 178 | 4659 | 601679 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | GTF2I CL E G H | 2969 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 178 | 4659 | 601679 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | GTF2IRD1 CL E G H | 9569 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 266 | 4661 | 604318 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | GTF2IRD1 CL E G H | 9569 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 266 | 4661 | 604318 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | GTF2IRD1 CL E G H | 9569 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 266 | 4661 | 604318 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | HESX1 CL E G H | 8820 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 112 | 4877 | 601802 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | HESX1 CL E G H | 8820 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 112 | 4877 | 601802 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | HESX1 CL E G H | 8820 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 112 | 4877 | 601802 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | HS6ST1 CL E G H | 9394 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 112 | 5201 | 604846 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | HS6ST1 CL E G H | 9394 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 112 | 5201 | 604846 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | HS6ST1 CL E G H | 9394 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 112 | 5201 | 604846 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | HSD17B4 CL E G H | 3295 | 233400 | Perrault syndrome 1 | 233400 | | OMIM | 0 | | 983 | 5213 | 601860 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | HSD17B4 CL E G H | 3295 | 233400 | Perrault syndrome 1 | 233400 | | OMIM | 0 | | 983 | 5213 | 601860 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | HSD17B4 CL E G H | 3295 | 233400 | Perrault syndrome 1 | 233400 | | OMIM | 0 | | 983 | 5213 | 601860 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | IL17RD CL E G H | 54756 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 163 | 17616 | 606807 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | IL17RD CL E G H | 54756 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 163 | 17616 | 606807 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | IL17RD CL E G H | 54756 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 163 | 17616 | 606807 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | JAK2 CL E G H | 3717 | 71493 | | | | ORPHA | 0 | | 412 | 6192 | 147796 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | JAK2 CL E G H | 3717 | 71493 | | | | ORPHA | 0 | | 412 | 6192 | 147796 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | JAK2 CL E G H | 3717 | 71493 | | | | ORPHA | 0 | | 412 | 6192 | 147796 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | KCND3 CL E G H | 3752 | 98772 | | | | ORPHA | 0 | | 467 | 6239 | 605411 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | KCND3 CL E G H | 3752 | 98772 | | | | ORPHA | 0 | | 467 | 6239 | 605411 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | KCND3 CL E G H | 3752 | 98772 | | | | ORPHA | 0 | | 467 | 6239 | 605411 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | KISS1R CL E G H | 84634 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 154 | 4510 | 604161 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | KISS1R CL E G H | 84634 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 154 | 4510 | 604161 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | KISS1R CL E G H | 84634 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 154 | 4510 | 604161 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | KRAS CL E G H | 3845 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | KRAS CL E G H | 3845 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | KRAS CL E G H | 3845 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | LIMK1 CL E G H | 3984 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 232 | 6613 | 601329 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | LIMK1 CL E G H | 3984 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 232 | 6613 | 601329 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | LIMK1 CL E G H | 3984 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 232 | 6613 | 601329 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | LMNB1 CL E G H | 4001 | 99027 | | | | ORPHA | 0 | | 241 | 6637 | 150340 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | LMNB1 CL E G H | 4001 | 99027 | | | | ORPHA | 0 | | 241 | 6637 | 150340 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | LMNB1 CL E G H | 4001 | 99027 | | | | ORPHA | 0 | | 241 | 6637 | 150340 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MAP2K1 CL E G H | 5604 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 493 | 6840 | 176872 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MAP2K1 CL E G H | 5604 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 493 | 6840 | 176872 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MAP2K1 CL E G H | 5604 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 493 | 6840 | 176872 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MAP2K2 CL E G H | 5605 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 720 | 6842 | 601263 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MAP2K2 CL E G H | 5605 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 720 | 6842 | 601263 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MAP2K2 CL E G H | 5605 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 720 | 6842 | 601263 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MARS2 CL E G H | 92935 | 611390 | Ataxia, spastic, 3, autosomal recessive | 611390 | C1969645 | OMIM | 0 | | 204 | 25133 | 609728 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MARS2 CL E G H | 92935 | 611390 | Ataxia, spastic, 3, autosomal recessive | 611390 | C1969645 | OMIM | 0 | | 204 | 25133 | 609728 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MARS2 CL E G H | 92935 | 611390 | Ataxia, spastic, 3, autosomal recessive | 611390 | C1969645 | OMIM | 0 | | 204 | 25133 | 609728 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 0 | | 5122 | 7127 | 120436 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 0 | | 5122 | 7127 | 120436 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 0 | | 5122 | 7127 | 120436 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 0 | | 2210 | 7128 | 604395 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 0 | | 2210 | 7128 | 604395 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 0 | | 2210 | 7128 | 604395 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MPL CL E G H | 4352 | 71493 | | | | ORPHA | 0 | | 562 | 7217 | 159530 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MPL CL E G H | 4352 | 71493 | | | | ORPHA | 0 | | 562 | 7217 | 159530 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MPL CL E G H | 4352 | 71493 | | | | ORPHA | 0 | | 562 | 7217 | 159530 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 0 | | 6856 | 7325 | 609309 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 0 | | 6856 | 7325 | 609309 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 0 | | 6856 | 7325 | 609309 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 0 | | 8438 | 7329 | 600678 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 0 | | 8438 | 7329 | 600678 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 0 | | 8438 | 7329 | 600678 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 0 | | | 7419 | 516030 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 0 | | | 7419 | 516030 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 0 | | | 7419 | 516030 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 0 | | | 7421 | 516040 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 0 | | | 7421 | 516040 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 0 | | | 7421 | 516040 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 0 | | | 7422 | 516050 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 0 | | | 7422 | 516050 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 0 | | | 7422 | 516050 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 0 | | | 7455 | 516000 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 0 | | | 7455 | 516000 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 0 | | | 7455 | 516000 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 0 | | | 7459 | 516003 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 0 | | | 7459 | 516003 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 0 | | | 7459 | 516003 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 0 | | | 7461 | 516005 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 0 | | | 7461 | 516005 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 0 | | | 7461 | 516005 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 0 | | | 7462 | 516006 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 0 | | | 7462 | 516006 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 0 | | | 7462 | 516006 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MT-TE CL E G H | 4556 | 2596 | Hantavirosis | | | ORPHA | 0 | | | 7479 | 590025 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MT-TE CL E G H | 4556 | 2596 | Hantavirosis | | | ORPHA | 0 | | | 7479 | 590025 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MT-TE CL E G H | 4556 | 2596 | Hantavirosis | | | ORPHA | 0 | | | 7479 | 590025 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 0 | | | 7481 | 590070 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 0 | | | 7481 | 590070 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 0 | | | 7481 | 590070 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 0 | | | 7487 | 590040 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 0 | | | 7487 | 590040 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 0 | | | 7487 | 590040 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 0 | | | 7490 | 590050 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 0 | | | 7490 | 590050 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 0 | | | 7490 | 590050 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 0 | | | 7495 | 590030 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 0 | | | 7495 | 590030 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 0 | | | 7495 | 590030 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 0 | | | 7497 | 590080 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 0 | | | 7497 | 590080 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 0 | | | 7497 | 590080 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 0 | | | 7498 | 590085 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 0 | | | 7498 | 590085 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 0 | | | 7498 | 590085 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 0 | | | 7501 | 590095 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 0 | | | 7501 | 590095 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 0 | | | 7501 | 590095 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NARS2 CL E G H | 79731 | 616239 | Combined oxidative phosphorylation deficiency 24 | 616239 | C4015643 | OMIM | 0 | | 302 | 26274 | 612803 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NARS2 CL E G H | 79731 | 616239 | Combined oxidative phosphorylation deficiency 24 | 616239 | C4015643 | OMIM | 0 | | 302 | 26274 | 612803 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NARS2 CL E G H | 79731 | 616239 | Combined oxidative phosphorylation deficiency 24 | 616239 | C4015643 | OMIM | 0 | | 302 | 26274 | 612803 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NKX2-1 CL E G H | 7080 | 118700 | Benign hereditary chorea | 118700 | C0393584 | OMIM | 0 | | 317 | 11825 | 600635 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NKX2-1 CL E G H | 7080 | 118700 | Benign hereditary chorea | 118700 | C0393584 | OMIM | 0 | | 317 | 11825 | 600635 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NKX2-1 CL E G H | 7080 | 118700 | Benign hereditary chorea | 118700 | C0393584 | OMIM | 0 | | 317 | 11825 | 600635 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NOP56 CL E G H | 10528 | 614153 | Spinocerebellar ataxia 36 | 614153 | C3472711 | OMIM | 0 | | 67 | 15911 | 614154 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NOP56 CL E G H | 10528 | 614153 | Spinocerebellar ataxia 36 | 614153 | C3472711 | OMIM | 0 | | 67 | 15911 | 614154 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NOP56 CL E G H | 10528 | 614153 | Spinocerebellar ataxia 36 | 614153 | C3472711 | OMIM | 0 | | 67 | 15911 | 614154 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NSMF CL E G H | 26012 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 197 | 29843 | 608137 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NSMF CL E G H | 26012 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 197 | 29843 | 608137 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NSMF CL E G H | 26012 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 197 | 29843 | 608137 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | NUS1 CL E G H | 116150 | 617831 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES | 617831 | CN757796 | OMIM | 0 | | 326 | 21042 | 610463 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | NUS1 CL E G H | 116150 | 617831 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES | 617831 | CN757796 | OMIM | 0 | | 326 | 21042 | 610463 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | NUS1 CL E G H | 116150 | 617831 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES | 617831 | CN757796 | OMIM | 0 | | 326 | 21042 | 610463 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PIEZO2 CL E G H | 63895 | 617146 | Arthrogryposis, distal, with impaired proprioception and touch | 617146 | C4310692 | OMIM | 0 | | 978 | 26270 | 613629 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PIEZO2 CL E G H | 63895 | 617146 | Arthrogryposis, distal, with impaired proprioception and touch | 617146 | C4310692 | OMIM | 0 | | 978 | 26270 | 613629 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PIEZO2 CL E G H | 63895 | 617146 | Arthrogryposis, distal, with impaired proprioception and touch | 617146 | C4310692 | OMIM | 0 | | 978 | 26270 | 613629 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 0 | | 1159 | 8975 | 171834 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 0 | | 1159 | 8975 | 171834 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 0 | | 1159 | 8975 | 171834 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PLP1 CL E G H | 5354 | 99015 | | | | ORPHA | 0 | | 451 | 9086 | 300401 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PLP1 CL E G H | 5354 | 99015 | | | | ORPHA | 0 | | 451 | 9086 | 300401 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PLP1 CL E G H | 5354 | 99015 | | | | ORPHA | 0 | | 451 | 9086 | 300401 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 0 | | 125 | 9121 | 600258 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 0 | | 125 | 9121 | 600258 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 0 | | 125 | 9121 | 600258 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 0 | | 4719 | 9122 | 600259 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 0 | | 4719 | 9122 | 600259 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 0 | | 4719 | 9122 | 600259 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | POLG CL E G H | 5428 | 94125 | Recessive mitochondrial ataxia syndrome | | CN206743 | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | POLG CL E G H | 5428 | 94125 | Recessive mitochondrial ataxia syndrome | | CN206743 | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | POLG CL E G H | 5428 | 94125 | Recessive mitochondrial ataxia syndrome | | CN206743 | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 0 | | 357 | 9180 | 604983 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 0 | | 357 | 9180 | 604983 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 0 | | 357 | 9180 | 604983 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PRKCG CL E G H | 5582 | 98763 | | | | ORPHA | 0 | | 323 | 9402 | 176980 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PRKCG CL E G H | 5582 | 98763 | | | | ORPHA | 0 | | 323 | 9402 | 176980 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PRKCG CL E G H | 5582 | 98763 | | | | ORPHA | 0 | | 323 | 9402 | 176980 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PROK2 CL E G H | 60675 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 65 | 18455 | 607002 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PROK2 CL E G H | 60675 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 65 | 18455 | 607002 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PROK2 CL E G H | 60675 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 65 | 18455 | 607002 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PROKR2 CL E G H | 128674 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 160 | 15836 | 607123 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PROKR2 CL E G H | 128674 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 160 | 15836 | 607123 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PROKR2 CL E G H | 128674 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 160 | 15836 | 607123 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | PRPS1 CL E G H | 5631 | 99014 | | | | ORPHA | 0 | | 415 | 9462 | 311850 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | PRPS1 CL E G H | 5631 | 99014 | | | | ORPHA | 0 | | 415 | 9462 | 311850 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | PRPS1 CL E G H | 5631 | 99014 | | | | ORPHA | 0 | | 415 | 9462 | 311850 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | REEP1 CL E G H | 65055 | 101011 | | | | ORPHA | 0 | | 434 | 25786 | 609139 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | REEP1 CL E G H | 65055 | 101011 | | | | ORPHA | 0 | | 434 | 25786 | 609139 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | REEP1 CL E G H | 65055 | 101011 | | | | ORPHA | 0 | | 434 | 25786 | 609139 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | RFC2 CL E G H | 5982 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 200 | 9970 | 600404 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | RFC2 CL E G H | 5982 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 200 | 9970 | 600404 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | RFC2 CL E G H | 5982 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 200 | 9970 | 600404 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | RTTN CL E G H | 25914 | 614833 | Microcephaly, short stature, and polymicrogyria with or without seizures | 614833 | C3553831 | OMIM | 0 | | 1206 | 18654 | 610436 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | RTTN CL E G H | 25914 | 614833 | Microcephaly, short stature, and polymicrogyria with or without seizures | 614833 | C3553831 | OMIM | 0 | | 1206 | 18654 | 610436 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | RTTN CL E G H | 25914 | 614833 | Microcephaly, short stature, and polymicrogyria with or without seizures | 614833 | C3553831 | OMIM | 0 | | 1206 | 18654 | 610436 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | RYR1 CL E G H | 6261 | 169186 | | | | ORPHA | 0 | | 6164 | 10483 | 180901 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | RYR1 CL E G H | 6261 | 169186 | | | | ORPHA | 0 | | 6164 | 10483 | 180901 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | RYR1 CL E G H | 6261 | 169186 | | | | ORPHA | 0 | | 6164 | 10483 | 180901 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SCN8A CL E G H | 6334 | 614306 | Cognitive impairment with or without cerebellar ataxia | 614306 | C3280415 | OMIM | 0 | | 1799 | 10596 | 600702 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SCN8A CL E G H | 6334 | 614306 | Cognitive impairment with or without cerebellar ataxia | 614306 | C3280415 | OMIM | 0 | | 1799 | 10596 | 600702 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SCN8A CL E G H | 6334 | 614306 | Cognitive impairment with or without cerebellar ataxia | 614306 | C3280415 | OMIM | 0 | | 1799 | 10596 | 600702 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SEMA3A CL E G H | 10371 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 214 | 10723 | 603961 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SEMA3A CL E G H | 10371 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 214 | 10723 | 603961 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SEMA3A CL E G H | 10371 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 214 | 10723 | 603961 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SETX CL E G H | 23064 | 606002 | Spinocerebellar ataxia autosomal recessive 1 | 606002 | C1853761 | OMIM | 0 | | 1556 | 445 | 608465 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SETX CL E G H | 23064 | 606002 | Spinocerebellar ataxia autosomal recessive 1 | 606002 | C1853761 | OMIM | 0 | | 1556 | 445 | 608465 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SETX CL E G H | 23064 | 606002 | Spinocerebellar ataxia autosomal recessive 1 | 606002 | C1853761 | OMIM | 0 | | 1556 | 445 | 608465 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 0 | | 333 | 10990 | 103220 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 0 | | 333 | 10990 | 103220 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 0 | | 333 | 10990 | 103220 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SOX10 CL E G H | 6663 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 378 | 11190 | 602229 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SOX10 CL E G H | 6663 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 378 | 11190 | 602229 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SOX10 CL E G H | 6663 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 378 | 11190 | 602229 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SPAST CL E G H | 6683 | 100985 | | | | ORPHA | 0 | | 1215 | 11233 | 604277 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SPAST CL E G H | 6683 | 100985 | | | | ORPHA | 0 | | 1215 | 11233 | 604277 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SPAST CL E G H | 6683 | 100985 | | | | ORPHA | 0 | | 1215 | 11233 | 604277 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SPEG CL E G H | 10290 | 169186 | | | | ORPHA | 0 | | 1482 | 16901 | 615950 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SPEG CL E G H | 10290 | 169186 | | | | ORPHA | 0 | | 1482 | 16901 | 615950 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SPEG CL E G H | 10290 | 169186 | | | | ORPHA | 0 | | 1482 | 16901 | 615950 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SPG21 CL E G H | 51324 | 248900 | Mast syndrome | 248900 | C1855346 | OMIM | 0 | | 162 | 20373 | 608181 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SPG21 CL E G H | 51324 | 248900 | Mast syndrome | 248900 | C1855346 | OMIM | 0 | | 162 | 20373 | 608181 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SPG21 CL E G H | 51324 | 248900 | Mast syndrome | 248900 | C1855346 | OMIM | 0 | | 162 | 20373 | 608181 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SPG7 CL E G H | 6687 | 99013 | | | | ORPHA | 0 | | 966 | 11237 | 602783 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SPG7 CL E G H | 6687 | 99013 | | | | ORPHA | 0 | | 966 | 11237 | 602783 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SPG7 CL E G H | 6687 | 99013 | | | | ORPHA | 0 | | 966 | 11237 | 602783 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | SPRY4 CL E G H | 81848 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 78 | 15533 | 607984 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | SPRY4 CL E G H | 81848 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 78 | 15533 | 607984 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | SPRY4 CL E G H | 81848 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 78 | 15533 | 607984 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TACR3 CL E G H | 6870 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 132 | 11528 | 162332 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TACR3 CL E G H | 6870 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 132 | 11528 | 162332 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TACR3 CL E G H | 6870 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 132 | 11528 | 162332 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 0 | | 893 | 29203 | 613577 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 0 | | 893 | 29203 | 613577 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 0 | | 893 | 29203 | 613577 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TBL2 CL E G H | 26608 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 194 | 11586 | 605842 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TBL2 CL E G H | 26608 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 194 | 11586 | 605842 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TBL2 CL E G H | 26608 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 194 | 11586 | 605842 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 0 | | 948 | 11773 | 190182 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 0 | | 948 | 11773 | 190182 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 0 | | 948 | 11773 | 190182 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | THPO CL E G H | 7066 | 71493 | | | | ORPHA | 0 | | 149 | 11795 | 600044 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | THPO CL E G H | 7066 | 71493 | | | | ORPHA | 0 | | 149 | 11795 | 600044 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | THPO CL E G H | 7066 | 71493 | | | | ORPHA | 0 | | 149 | 11795 | 600044 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TK2 CL E G H | 7084 | 254875 | | | | ORPHA | 0 | | 442 | 11831 | 188250 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TK2 CL E G H | 7084 | 254875 | | | | ORPHA | 0 | | 442 | 11831 | 188250 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TK2 CL E G H | 7084 | 254875 | | | | ORPHA | 0 | | 442 | 11831 | 188250 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TTN CL E G H | 7273 | 169186 | | | | ORPHA | 0 | | 27503 | 12403 | 188840 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TTN CL E G H | 7273 | 169186 | | | | ORPHA | 0 | | 27503 | 12403 | 188840 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TTN CL E G H | 7273 | 169186 | | | | ORPHA | 0 | | 27503 | 12403 | 188840 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 320 | 20772 | 602661 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 320 | 20772 | 602661 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 320 | 20772 | 602661 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 0 | | 450 | 1160 | 606075 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 0 | | 450 | 1160 | 606075 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 0 | | 450 | 1160 | 606075 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 0 | | 450 | 1160 | 606075 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 0 | | 450 | 1160 | 606075 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 0 | | 450 | 1160 | 606075 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | VCP CL E G H | 7415 | 435387 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | VCP CL E G H | 7415 | 435387 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | VCP CL E G H | 7415 | 435387 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0001260 | HP:0002464 | Spastic dysarthria | 1 | WDR11 CL E G H | 55717 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 369 | 13831 | 606417 |
HP:0001260 | HP:0007024 | Pseudobulbar paralysis | 1 | WDR11 CL E G H | 55717 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 369 | 13831 | 606417 |
HP:0001260 | HP:0008376 | Nasal, dysarthic speech | 1 | WDR11 CL E G H | 55717 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 369 | 13831 | 606417 |