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:0002505 | HP:0002505 | Loss of ambulation | 0 | ACTB CL E G H | 60 | 132 | OMIM:607371 | Dystonia, juvenile-onset | | | | 72 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | ADAM22 CL E G H | 53616 | 201 | OMIM:617933 | Epileptic encephalopathy, early infantile, 61 | | | | | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | ADAR CL E G H | 103 | 225 | OMIM:615010 | Aicardi-Goutieres syndrome 6 | | | | 116 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | ADAR CL E G H | 103 | 225 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | | | | 116 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447757 | Autosomal dominant spastic paraplegia type 9B | HP:0040282 - Frequent | | | 89 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:606353 | Primary lateral sclerosis, juvenile | | | | 114 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | AP4S1 CL E G H | 11154 | 575 | OMIM:614067 | Spastic paraplegia 52, autosomal recessive | | | | 18 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | APTX CL E G H | 54840 | 15984 | OMIM:208920 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | | | | 61 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | | | | | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | BVES CL E G H | 11149 | 1152 | OMIM:616812 | Muscular dystrophy, limb-girdle, autosomal recessive 25 | | | | 2 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | | | | 114 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:615043 | Spastic paraplegia 43, autosomal recessive | | | | 114 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3095 | Atypical Rett syndrome | | | | 405 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:616321 | Myasthenic syndrome, congenital, 3A, slow-channel | | | | 88 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | CLN3 CL E G H | 1201 | 2074 | OMIM:204200 | Ceroid lipofuscinosis, neuronal, 3 | . | | | 216 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | | | | 54 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | CRAT CL E G H | 1384 | 2342 | OMIM:617917 | Neurodegeneration with brain iron accumulation 8 | | | | | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:352479 | ISPD-related limb-girdle muscular dystrophy R20 | HP:0040283 - Occasional | | | | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | DARS2 CL E G H | 55157 | 25538 | ORPHA:137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | DES CL E G H | 1674 | 2770 | ORPHA:98909 | Desminopathy | | | | 263 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | DMD CL E G H | 1756 | 2928 | OMIM:310200 | Duchenne muscular dystrophy | | | | 1496 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | DNAJB6 CL E G H | 10049 | 14888 | ORPHA:34516 | DNAJB6-related limb-girdle muscular dystrophy D1 | | | | 103 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | DNAJB6 CL E G H | 10049 | 14888 | OMIM:603511 | Muscular dystrophy, limb-girdle, type 1E | | | | 103 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | DNAJC6 CL E G H | 9829 | 15469 | OMIM:615528 | Parkinson disease 19a, juvenile-onset | | | | 6 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | DSTYK CL E G H | 25778 | 29043 | OMIM:270750 | Spastic paraplegia 23 | | | | 13 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | | | | 600 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | DYSF CL E G H | 8291 | 3097 | OMIM:253601 | Muscular dystrophy, limb-girdle, type 2B | | | | 600 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | EMD CL E G H | 2010 | 3331 | OMIM:310300 | Emery-Dreifuss muscular dystrophy 1, X-linked | | | | 107 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | | | | | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | ERBB4 CL E G H | 2066 | 3432 | OMIM:615515 | Amyotrophic lateral sclerosis 19 | | | | 15 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:329308 | Fatty acid hydroxylase-associated neurodegeneration | HP:0040281 - Very frequent | | | 76 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | FARS2 CL E G H | 10667 | 21062 | ORPHA:466722 | Autosomal recessive spastic paraplegia type 77 | HP:0040282 - Frequent | | | 36 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 157 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | FOXRED1 CL E G H | 55572 | 26927 | OMIM:618241 | Mitochondrial complex I deficiency, nuclear type 19 | | | | 61 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:3095 | Atypical Rett syndrome | | | | 5 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206443 | Late-infantile/juvenile Krabbe disease | HP:0040282 - Frequent | | | 160 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | | | | 43 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | GGPS1 CL E G H | 9453 | 4249 | OMIM:619518 | MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO | | | | | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | GIPC1 CL E G H | 10755 | 1226 | ORPHA:98897 | Oculopharyngodistal myopathy | | | | | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | GLRX5 CL E G H | 51218 | 20134 | ORPHA:401866 | Childhood-onset spasticity with hyperglycinemia | | | | 17 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 34 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | GOSR2 CL E G H | 9570 | 4431 | OMIM:614018 | Epilepsy, progressive myoclonic, 6 | | | | 88 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | HP:0040283 - Occasional | | | 12 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | HK1 CL E G H | 3098 | 4922 | ORPHA:99953 | Charcot-Marie-Tooth disease type 4G | HP:0040283 - Occasional | | | 11 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | HNRNPA1 CL E G H | 3178 | 5031 | OMIM:615424 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 | | | | 31 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | | | | 19 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | HYCC1 CL E G H | 84668 | 24587 | OMIM:610532 | Leukodystrophy, hypomyelinating, 5 | | | | | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | IRF2BPL CL E G H | 64207 | 14282 | OMIM:618088 | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | | | | | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | KLHL9 CL E G H | 55958 | 18732 | ORPHA:399081 | KLHL9-related early-onset distal myopathy | | | | 3 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 136 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:620089 | | | | | 2 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:616516 | Emery-Dreifuss muscular dystrophy 3, autosomal recessive | | | | 645 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2788 | Osteoporosis-pseudoglioma syndrome | | | | 125 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | | | | 10 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | MAG CL E G H | 4099 | 6783 | OMIM:616680 | Spastic paraplegia 75, autosomal recessive | | | | 4 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240094 | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome | | | | 140 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | MARS2 CL E G H | 92935 | 25133 | OMIM:611390 | Spastic ataxia 3, autosomal recessive | | | | 25 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | MCM3AP CL E G H | 8888 | 6946 | OMIM:618124 | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | | | | 3 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3095 | Atypical Rett syndrome | | | | 950 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | MECR CL E G H | 51102 | 19691 | OMIM:617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | | | | 6 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | | | | 56 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255160 | Myopathy, myosin storage, autosomal recessive | | | | 1269 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | MYOT CL E G H | 9499 | 12399 | ORPHA:98911 | Distal myotilinopathy | | | | 75 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | NDUFA6 CL E G H | 4700 | 7690 | OMIM:618253 | Mitochondrial complex I deficiency, nuclear type 33 | | | | 1 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93399 | Juvenile sialidosis type 2 | | | | 43 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:98897 | Oculopharyngodistal myopathy | | | | | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | NTNG1 CL E G H | 22854 | 23319 | ORPHA:3095 | Atypical Rett syndrome | | | | 1 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | NUP62 CL E G H | 23636 | 8066 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | | | | 7 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | OPTN CL E G H | 10133 | 17142 | OMIM:613435 | Amyotrophic lateral sclerosis 12 | | | | 62 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | | | | 169 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | PEX16 CL E G H | 9409 | 8857 | OMIM:614877 | Peroxisome biogenesis disorder 8B | | | | 59 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | | | | 759 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | PLP1 CL E G H | 5354 | 9086 | OMIM:312920 | Spastic paraplegia 2, X-linked | | | | 60 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 138 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 67 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 213 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 221 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | PRX CL E G H | 57716 | 13797 | OMIM:614895 | Charcot-Marie-Tooth disease, demyelinating, type 4F | | | | 170 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | REPS1 CL E G H | 85021 | 15578 | OMIM:617916 | Neurodegeneration with brain iron accumulation 7 | | | | | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | RNASEH1 CL E G H | 246243 | 18466 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | | | | 3 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | | | | 125 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | SAMD9L CL E G H | 219285 | 1349 | OMIM:619806 | SPINOCEREBELLAR ATAXIA 49; SCA49 | | | | 4 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | SBF1 CL E G H | 6305 | 10542 | OMIM:615284 | Charcot-Marie-Tooth disease, type 4B3 | | | | 16 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 304 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 16 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 237 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 129 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | SELENON CL E G H | 57190 | 15999 | OMIM:602771 | Rigid spine muscular dystrophy 1 | | | | 144 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | SGCB CL E G H | 6443 | 10806 | OMIM:604286 | Muscular dystrophy, limb-girdle, type 2E | | | | 113 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | SGCG CL E G H | 6445 | 10809 | OMIM:253700 | Muscular dystrophy, limb-girdle, type 2C | | | | 83 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | SLC39A14 CL E G H | 23516 | 20858 | ORPHA:521406 | Dystonia-parkinsonism-hypermanganesemia syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | | | | 93 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:3095 | Atypical Rett syndrome | | | | 135 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253400 | Spinal muscular atrophy, type III | | | | 22 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | SMN2 CL E G H | 6607 | 11118 | OMIM:253400 | Spinal muscular atrophy, type III | | | | 1 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | SUCLA2 CL E G H | 8803 | 11448 | OMIM:612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | | | | 66 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | TFG CL E G H | 10342 | 11758 | OMIM:615658 | Spastic paraplegia 57, autosomal recessive | | | | 18 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | TGM6 CL E G H | 343641 | 16255 | OMIM:613908 | Spinocerebellar ataxia 35 | | | | 58 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | TK2 CL E G H | 7084 | 11831 | OMIM:609560 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | | | | 103 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | | | | 108 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | | | | 113 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | | | | 21 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | VAC14 CL E G H | 55697 | 25507 | OMIM:617054 | Striatonigral degeneration, childhood-onset | | | | 6 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | VAPB CL E G H | 9217 | 12649 | OMIM:608627 | Amyotrophic lateral sclerosis 8 | | | | 116 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | VAPB CL E G H | 9217 | 12649 | OMIM:182980 | Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included | | | | 116 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | VCP CL E G H | 7415 | 12666 | OMIM:167320 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | | | | 63 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |
HP:0002505 | HP:0002505 | Loss of ambulation | 0 | VPS16 CL E G H | 64601 | 14584 | OMIM:619291 | DYSTONIA 30; DYT30 | | | | | | |
HP:0002505 | HP:0008945 | Loss of ability to walk in early childhood | 1 | GLRX5 CL E G H | 51218 | 20134 | ORPHA:401866 | Childhood-onset spasticity with hyperglycinemia | HP:0040282 - Frequent | | | 17 | | |
HP:0002505 | HP:0006794 | Loss of ability to walk in first decade | 1 | MYOT CL E G H | 9499 | 12399 | ORPHA:98911 | Distal myotilinopathy | HP:0040282 - Frequent | | | 75 | | |
HP:0002505 | HP:0006794 | Loss of ability to walk in first decade | 1 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | . | | | 93 | | |
HP:0002505 | HP:0008945 | Loss of ability to walk in early childhood | 1 | SUCLA2 CL E G H | 8803 | 11448 | OMIM:612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | . | | | 66 | | |
HP:0002505 | HP:0008945 | Loss of ability to walk in early childhood | 1 | TK2 CL E G H | 7084 | 11831 | OMIM:609560 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | . | | | 103 | | |