Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002064 | HP:0002064 | Spastic gait | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139399 | Adrenomyeloneuropathy | HP:0040282 - Frequent | | | 135 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | HP:0040281 - Very frequent | | | 89 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447757 | Autosomal dominant spastic paraplegia type 9B | HP:0040282 - Frequent | | | 89 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447760 | Autosomal recessive spastic paraplegia type 9B | HP:0040282 - Frequent | | | 89 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:601162 | Spastic paraplegia 9A, autosomal dominant | | | | 89 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | . | | | 114 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:247604 | Juvenile primary lateral sclerosis | HP:0040281 - Very frequent | | | 114 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:606353 | Primary lateral sclerosis, juvenile | . | | | 114 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | AMPD2 CL E G H | 271 | 469 | ORPHA:401805 | Autosomal recessive spastic paraplegia type 63 | | | | 21 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | AMPD2 CL E G H | 271 | 469 | OMIM:615686 | Spastic paraplegia 63, autosomal recessive | | | | 21 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | AP5Z1 CL E G H | 9907 | 22197 | ORPHA:306511 | Autosomal recessive spastic paraplegia type 48 | HP:0040282 - Frequent | | | 165 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | AP5Z1 CL E G H | 9907 | 22197 | OMIM:613647 | Spastic paraplegia 48, autosomal recessive | . | | | 165 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | HP:0040283 - Occasional | | | 3179 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | ARG1 CL E G H | 383 | 663 | OMIM:207800 | Argininemia | | | | 31 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | ARL6IP1 CL E G H | 23204 | 697 | ORPHA:401780 | Autosomal recessive spastic paraplegia type 61 | | | | 1 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | ARL6IP1 CL E G H | 23204 | 697 | OMIM:615685 | Spastic paraplegia 61, autosomal recessive | | | | 1 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | ARSI CL E G H | 340075 | 32521 | ORPHA:401815 | Autosomal recessive spastic paraplegia type 66 | HP:0040282 - Frequent | | | 1 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | ATAD3A CL E G H | 55210 | 25567 | ORPHA:496790 | Ocular anomalies-axonal neuropathy-developmental delay syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | ATL1 CL E G H | 51062 | 11231 | ORPHA:100984 | Autosomal dominant spastic paraplegia type 3 | HP:0040282 - Frequent | | | 71 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | ATL1 CL E G H | 51062 | 11231 | OMIM:182600 | Spastic paraplegia 3, autosomal dominant | . | | | 71 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:363654 | X-linked parkinsonism-spasticity syndrome | | | | 36 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | B4GALNT1 CL E G H | 2583 | 4117 | OMIM:609195 | Spastic paraplegia 26, autosomal recessive | . | | | 25 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:100998 | Autosomal dominant spastic paraplegia type 17 | HP:0040282 - Frequent | | | 105 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:270685 | Spastic paraplegia 17 | . | | | 105 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:320370 | Autosomal recessive spastic paraplegia type 43 | HP:0040281 - Very frequent | | | 114 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | CACNA1G CL E G H | 8913 | 1394 | OMIM:616795 | Spinocerebellar ataxia 42 | | | | 32 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | HP:0040282 - Frequent | | | 32 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | CCT5 CL E G H | 22948 | 1618 | OMIM:256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | . | | | 56 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | CPT1C CL E G H | 126129 | 18540 | ORPHA:444099 | Autosomal dominant spastic paraplegia type 73 | HP:0040281 - Very frequent | | | 1 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | CYP2U1 CL E G H | 113612 | 20582 | ORPHA:320411 | Autosomal recessive spastic paraplegia type 56 | HP:0040282 - Frequent | | | 18 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:270800 | Spastic paraplegia 5A, autosomal recessive | . | | | 57 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | DDHD1 CL E G H | 80821 | 19714 | ORPHA:101008 | Autosomal recessive spastic paraplegia type 28 | HP:0040282 - Frequent | | | 35 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | DDHD2 CL E G H | 23259 | 29106 | ORPHA:320380 | Autosomal recessive spastic paraplegia type 54 | HP:0040282 - Frequent | | | 29 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | DSTYK CL E G H | 25778 | 29043 | ORPHA:101003 | Autosomal recessive spastic paraplegia type 23 | HP:0040282 - Frequent | | | 13 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:278800 | De Sanctis-Cacchione syndrome | | | | 199 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | ERLIN1 CL E G H | 10613 | 16947 | ORPHA:401785 | Autosomal recessive spastic paraplegia type 62 | HP:0040283 - Occasional | | | 2 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | ERLIN1 CL E G H | 10613 | 16947 | OMIM:615681 | Spastic paraplegia 62, autosomal recessive | . | | | 2 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:247604 | Juvenile primary lateral sclerosis | HP:0040281 - Very frequent | | | 18 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | FAR1 CL E G H | 84188 | 26222 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | HP:0040281 - Very frequent | | | 7 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | FARS2 CL E G H | 10667 | 21062 | ORPHA:466722 | Autosomal recessive spastic paraplegia type 77 | | | | 36 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | FBXO7 CL E G H | 25793 | 13586 | OMIM:260300 | Parkinson disease 15, autosomal recessive early-onset | | | | 36 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | FUCA1 CL E G H | 2517 | 4006 | OMIM:230000 | FUCOSIDOSIS | | | | 43 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | . | | | 30 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:613206 | Spastic paraplegia 44, autosomal recessive | . | | | 37 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | HSPD1 CL E G H | 3329 | 5261 | ORPHA:100994 | Autosomal dominant spastic paraplegia type 13 | HP:0040282 - Frequent | | | 46 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | HSPD1 CL E G H | 3329 | 5261 | OMIM:605280 | Spastic paraplegia 13, autosomal dominant | . | | | 46 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | KCNA1 CL E G H | 3736 | 6218 | OMIM:160120 | Episodic ataxia, type 1 | . | | | 145 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:972 | Hereditary continuous muscle fiber activity | HP:0040281 - Very frequent | | | 145 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | KCNA4 CL E G H | 3739 | 6222 | OMIM:618284 | Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum | . | | | | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | KIDINS220 CL E G H | 57498 | 29508 | OMIM:617296 | SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO | | | | 4 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | KIF1A CL E G H | 547 | 888 | ORPHA:101010 | Autosomal spastic paraplegia type 30 | HP:0040281 - Very frequent | | | 276 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | KIF1A CL E G H | 547 | 888 | OMIM:610357 | Spastic paraplegia 30, autosomal recessive | . | | | 276 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | KIF5A CL E G H | 3798 | 6323 | ORPHA:100991 | Autosomal dominant spastic paraplegia type 10 | | | | 93 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | KIF5A CL E G H | 3798 | 6323 | OMIM:604187 | Spastic paraplegia 10, autosomal dominant | . | | | 93 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | KPNA3 CL E G H | 3839 | 6396 | ORPHA:171612 | Autosomal dominant spastic paraplegia type 37 | HP:0040283 - Occasional | | | | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | HP:0040283 - Occasional | | | 44 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | MAG CL E G H | 4099 | 6783 | OMIM:616680 | Spastic paraplegia 75, autosomal recessive | | | | 4 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | . | | | 950 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | MFSD2A CL E G H | 84879 | 25897 | OMIM:616486 | Microcephaly 15, primary, autosomal recessive | . | | | 5 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | NIPA1 CL E G H | 123606 | 17043 | OMIM:600363 | Spastic paraplegia 6, autosomal dominant | . | | | 117 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | NT5C2 CL E G H | 22978 | 8022 | ORPHA:320396 | Autosomal recessive spastic paraplegia type 45 | HP:0040281 - Very frequent | | | 15 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | NT5C2 CL E G H | 22978 | 8022 | OMIM:613162 | Spastic paraplegia 45, autosomal recessive | . | | | 15 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | PGAP1 CL E G H | 80055 | 25712 | ORPHA:401820 | Autosomal recessive spastic paraplegia type 67 | HP:0040282 - Frequent | | | 20 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | PLP1 CL E G H | 5354 | 9086 | OMIM:312920 | Spastic paraplegia 2, X-linked | . | | | 60 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:99015 | Spastic paraplegia type 2 | HP:0040281 - Very frequent | | | 60 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:619742 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I | | | | 67 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | REEP1 CL E G H | 65055 | 25786 | ORPHA:101011 | Autosomal dominant spastic paraplegia type 31 | HP:0040281 - Very frequent | | | 87 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | REEP1 CL E G H | 65055 | 25786 | OMIM:610250 | Spastic paraplegia 31, autosomal dominant | . | | | 87 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | REEP2 CL E G H | 51308 | 17975 | ORPHA:401849 | Autosomal spastic paraplegia type 72 | HP:0040281 - Very frequent | | | 3 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | REEP2 CL E G H | 51308 | 17975 | OMIM:615625 | Spastic paraplegia 72, autosomal recessive | . | | | 3 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | RTN2 CL E G H | 6253 | 10468 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | HP:0040282 - Frequent | | | 25 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | RTN2 CL E G H | 6253 | 10468 | OMIM:604805 | Spastic paraplegia 12, autosomal dominant | . | | | 25 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | | | | 309 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | SLC33A1 CL E G H | 9197 | 95 | ORPHA:171863 | Autosomal dominant spastic paraplegia type 42 | HP:0040281 - Very frequent | | | 48 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | SLC33A1 CL E G H | 9197 | 95 | OMIM:612539 | Spastic paraplegia 42, autosomal dominant | . | | | 48 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | SLC39A14 CL E G H | 23516 | 20858 | ORPHA:521406 | Dystonia-parkinsonism-hypermanganesemia syndrome | | | | 5 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | | | | 5 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | SPART CL E G H | 23111 | 18514 | ORPHA:101000 | Autosomal recessive spastic paraplegia type 20 | HP:0040283 - Occasional | | | 66 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | SPART CL E G H | 23111 | 18514 | OMIM:275900 | Spastic paraplegia 20, autosomal recessive | . | | | 66 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | SPAST CL E G H | 6683 | 11233 | OMIM:182601 | Spastic paraplegia 4, autosomal dominant | . | | | 208 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | . | | | 287 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | SPG7 CL E G H | 6687 | 11237 | ORPHA:35689 | Primary lateral sclerosis | HP:0040282 - Frequent | | | 171 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | SPG7 CL E G H | 6687 | 11237 | OMIM:607259 | Spastic paraplegia 7, autosomal recessive | | | | 171 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | SPG7 CL E G H | 6687 | 11237 | ORPHA:99013 | Spastic paraplegia type 7 | HP:0040281 - Very frequent | | | 171 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | TACO1 CL E G H | 51204 | 24316 | OMIM:619052 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8 | | | | 23 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | TECPR2 CL E G H | 9895 | 19957 | OMIM:615031 | Spastic paraplegia 49, autosomal recessive | . | | | 39 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | TMEM63C CL E G H | 57156 | 23787 | OMIM:619966 | | | | | | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | UBA5 CL E G H | 79876 | 23230 | OMIM:617133 | Spinocerebellar ataxia, autosomal recessive 24 | . | | | 13 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | UBAP1 CL E G H | 51271 | 12461 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | HP:0040282 - Frequent | | | | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:401795 | Autosomal recessive spastic paraplegia type 59 | HP:0040282 - Frequent | | | 7 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:251282 | Autosomal dominant spastic ataxia type 1 | HP:0040282 - Frequent | | | 2 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:329475 | Spastic paraplegia-Paget disease of bone syndrome | HP:0040280 - Obligate | | | 63 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:100989 | Autosomal dominant spastic paraplegia type 8 | HP:0040282 - Frequent | | | 83 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | WASHC5 CL E G H | 9897 | 28984 | OMIM:603563 | Spastic paraplegia 8, autosomal dominant | . | | | 83 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | WDR26 CL E G H | 80232 | 21208 | OMIM:617616 | Skraban-Deardorff syndrome | . | | | 8 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | WDR48 CL E G H | 57599 | 30914 | ORPHA:401800 | Autosomal recessive spastic paraplegia type 60 | HP:0040282 - Frequent | | | 1 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | ZFR CL E G H | 51663 | 17277 | ORPHA:401840 | Autosomal recessive spastic paraplegia type 71 | HP:0040282 - Frequent | | | 1 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | ZFYVE26 CL E G H | 23503 | 20761 | OMIM:270700 | Spastic paraplegia 15, autosomal recessive | . | | | 189 | | |
HP:0002064 | HP:0002064 | Spastic gait | 0 | ZFYVE27 CL E G H | 118813 | 26559 | OMIM:610244 | Spastic paraplegia 33, autosomal dominant | . | HP:0003581 - Adult onset | | 52 | | |
HP:0002064 | HP:0031957 | Spastic hemiparetic gait | 1 | CL E G H | | | | | | | | | | |
HP:0002064 | HP:0031958 | Spastic paraparetic gait | 1 | AMPD2 CL E G H | 271 | 469 | ORPHA:401805 | Autosomal recessive spastic paraplegia type 63 | | | | 21 | | |
HP:0002064 | HP:0031958 | Spastic paraparetic gait | 1 | AMPD2 CL E G H | 271 | 469 | OMIM:615686 | Spastic paraplegia 63, autosomal recessive | | | | 21 | | |
HP:0002064 | HP:0031958 | Spastic paraparetic gait | 1 | ARL6IP1 CL E G H | 23204 | 697 | ORPHA:401780 | Autosomal recessive spastic paraplegia type 61 | | | | 1 | | |
HP:0002064 | HP:0031958 | Spastic paraparetic gait | 1 | ARL6IP1 CL E G H | 23204 | 697 | OMIM:615685 | Spastic paraplegia 61, autosomal recessive | | | | 1 | | |
HP:0002064 | HP:0031958 | Spastic paraparetic gait | 1 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:363654 | X-linked parkinsonism-spasticity syndrome | | | | 36 | | |
HP:0002064 | HP:0031958 | Spastic paraparetic gait | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:278800 | De Sanctis-Cacchione syndrome | | | | 199 | | |
HP:0002064 | HP:0031958 | Spastic paraparetic gait | 1 | FARS2 CL E G H | 10667 | 21062 | ORPHA:466722 | Autosomal recessive spastic paraplegia type 77 | | | | 36 | | |
HP:0002064 | HP:0031958 | Spastic paraparetic gait | 1 | FBXO7 CL E G H | 25793 | 13586 | OMIM:260300 | Parkinson disease 15, autosomal recessive early-onset | | | | 36 | | |
HP:0002064 | HP:0031958 | Spastic paraparetic gait | 1 | KIF1A CL E G H | 547 | 888 | ORPHA:101010 | Autosomal spastic paraplegia type 30 | | | | 276 | | |
HP:0002064 | HP:0031958 | Spastic paraparetic gait | 1 | KIF5A CL E G H | 3798 | 6323 | ORPHA:100991 | Autosomal dominant spastic paraplegia type 10 | HP:0040282 - Frequent | | | 93 | | |
HP:0002064 | HP:0031958 | Spastic paraparetic gait | 1 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0002064 | HP:0031958 | Spastic paraparetic gait | 1 | SLC39A14 CL E G H | 23516 | 20858 | ORPHA:521406 | Dystonia-parkinsonism-hypermanganesemia syndrome | | | | 5 | | |
HP:0002064 | HP:0031958 | Spastic paraparetic gait | 1 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | | | | 5 | | |
HP:0002064 | HP:0012407 | Scissor gait | 2 | AMPD2 CL E G H | 271 | 469 | ORPHA:401805 | Autosomal recessive spastic paraplegia type 63 | HP:0040282 - Frequent | | | 21 | | |
HP:0002064 | HP:0012407 | Scissor gait | 2 | AMPD2 CL E G H | 271 | 469 | OMIM:615686 | Spastic paraplegia 63, autosomal recessive | . | | | 21 | | |
HP:0002064 | HP:0012407 | Scissor gait | 2 | ARL6IP1 CL E G H | 23204 | 697 | ORPHA:401780 | Autosomal recessive spastic paraplegia type 61 | HP:0040282 - Frequent | | | 1 | | |
HP:0002064 | HP:0012407 | Scissor gait | 2 | ARL6IP1 CL E G H | 23204 | 697 | OMIM:615685 | Spastic paraplegia 61, autosomal recessive | . | | | 1 | | |
HP:0002064 | HP:0012407 | Scissor gait | 2 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:363654 | X-linked parkinsonism-spasticity syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0002064 | HP:0012407 | Scissor gait | 2 | ERCC6 CL E G H | 2074 | 3438 | OMIM:278800 | De Sanctis-Cacchione syndrome | | | | 199 | | |
HP:0002064 | HP:0012407 | Scissor gait | 2 | FARS2 CL E G H | 10667 | 21062 | ORPHA:466722 | Autosomal recessive spastic paraplegia type 77 | HP:0040282 - Frequent | | | 36 | | |
HP:0002064 | HP:0012407 | Scissor gait | 2 | FBXO7 CL E G H | 25793 | 13586 | OMIM:260300 | Parkinson disease 15, autosomal recessive early-onset | . | | | 36 | | |
HP:0002064 | HP:0012407 | Scissor gait | 2 | KIF1A CL E G H | 547 | 888 | ORPHA:101010 | Autosomal spastic paraplegia type 30 | HP:0040282 - Frequent | | | 276 | | |
HP:0002064 | HP:0012407 | Scissor gait | 2 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0002064 | HP:0012407 | Scissor gait | 2 | SLC39A14 CL E G H | 23516 | 20858 | ORPHA:521406 | Dystonia-parkinsonism-hypermanganesemia syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0002064 | HP:0012407 | Scissor gait | 2 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | | | | 5 | | |