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:0001276 | HP:0001276 | Hypertonia | 0 | AARS1 CL E G H | 16 | 20 | OMIM:616339 | Epileptic encephalopathy, early infantile, 29 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AARS1 CL E G H | 16 | 20 | OMIM:619661 | LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AARS1 CL E G H | 16 | 20 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AARS1 CL E G H | 16 | 20 | OMIM:619691 | TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AARS2 CL E G H | 57505 | 21022 | OMIM:615889 | Leukoencephalopathy, progressive, with ovarian failure | | | | 143 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | | | | 15 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:3124 | Saccharopinuria | | | | 15 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ABCA12 CL E G H | 26154 | 14637 | OMIM:242500 | Ichthyosis, congenital, autosomal recessive 4B | | | | 130 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ABCA7 CL E G H | 10347 | 37 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040281 - Very frequent | | | 3 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ABCC8 CL E G H | 6833 | 59 | OMIM:240800 | Hypoglycemia of infancy, leucine-sensitive | | | | 245 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | | | | 135 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139399 | Adrenomyeloneuropathy | | | | 135 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | | | | 135 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ABHD12 CL E G H | 26090 | 15868 | OMIM:612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | | | | 50 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ABHD16A CL E G H | 7920 | 13921 | OMIM:619735 | SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ACADS CL E G H | 35 | 90 | ORPHA:26792 | Short chain acyl-CoA dehydrogenase deficiency | HP:0040284 - Very rare | | | 90 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | | | | 91 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ACD CL E G H | 65057 | 25070 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ACER3 CL E G H | 55331 | 16066 | OMIM:617762 | Leukodystrophy, progressive, early childhood-onset | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ACOX1 CL E G H | 51 | 119 | ORPHA:2971 | Peroxisomal acyl-CoA oxidase deficiency | HP:0040283 - Occasional | | | 120 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ACOX1 CL E G H | 51 | 119 | OMIM:264470 | Peroxisomal acyl-coa oxidase deficiency | . | | | 120 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ACP5 CL E G H | 54 | 124 | ORPHA:1855 | Spondyloenchondrodysplasia | | | | 16 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:161800 | Nemaline myopathy 3 | HP:0040283 - Occasional | | | 96 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ACTL6B CL E G H | 51412 | 160 | OMIM:618468 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76 | | | | 2 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ACTL6B CL E G H | 51412 | 160 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 2 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ADAM22 CL E G H | 53616 | 201 | OMIM:617933 | Epileptic encephalopathy, early infantile, 61 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 116 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ADAR CL E G H | 103 | 225 | OMIM:615010 | Aicardi-Goutieres syndrome 6 | | | | 116 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ADAR CL E G H | 103 | 225 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040283 - Occasional | | | 116 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ADARB1 CL E G H | 104 | 226 | OMIM:618862 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | | | | 9 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ADAT3 CL E G H | 113179 | 25151 | OMIM:615286 | Mental retardation, autosomal recessive 36 | | | | 9 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ADCY5 CL E G H | 111 | 236 | OMIM:606703 | Dyskinesia, familial, with facial myokymia | | | | 25 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ADCY5 CL E G H | 111 | 236 | ORPHA:324588 | Familial dyskinesia and facial myokymia | | | | 25 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ADD3 CL E G H | 120 | 245 | OMIM:617008 | Cerebral palsy, spastic quadriplegic, 3 | | | | 3 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 88 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ADGRG1 CL E G H | 9289 | 4512 | OMIM:606854 | Polymicrogyria, bilateral frontoparietal | | | | 88 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ADH1C CL E G H | 126 | 251 | OMIM:168600 | Parkinson disease, late-onset | | | | 4 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040284 - Very rare | | | 47 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ADSL CL E G H | 158 | 291 | OMIM:103050 | Adenylosuccinase deficiency | | | | 118 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AFG3L2 CL E G H | 10939 | 315 | ORPHA:313772 | Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome | | | | 86 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AFG3L2 CL E G H | 10939 | 315 | OMIM:614487 | Spastic ataxia 5, autosomal recessive | | | | 86 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AFG3L2 CL E G H | 10939 | 315 | OMIM:610246 | Spinocerebellar ataxia 28 | . | | | 86 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AFG3L2 CL E G H | 10939 | 315 | ORPHA:101109 | Spinocerebellar ataxia type 28 | | | | 86 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | | | | 76 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AGTPBP1 CL E G H | 23287 | 17258 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:83629 | Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome | | | | 60 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AIMP1 CL E G H | 9255 | 10648 | OMIM:260600 | Leukodystrophy, hypomyelinating, 3 | | | | 4 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | | | | 89 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447757 | Autosomal dominant spastic paraplegia type 9B | | | | 89 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447760 | Autosomal recessive spastic paraplegia type 9B | | | | 89 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:601162 | Spastic paraplegia 9A, autosomal dominant | | | | 89 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616586 | Spastic paraplegia 9B, autosomal recessive | | | | 89 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ALDH3A2 CL E G H | 224 | 403 | ORPHA:816 | Sjögren-Larsson syndrome | | | | 87 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ALDH3A2 CL E G H | 224 | 403 | OMIM:270200 | Sjogren-Larsson syndrome | | | | 87 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ALG11 CL E G H | 440138 | 32456 | ORPHA:280071 | ALG11-CDG | HP:0040282 - Frequent | | | 41 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ALG11 CL E G H | 440138 | 32456 | OMIM:613661 | Congenital disorder of glycosylation, type Ip | | | | 41 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | HP:0040283 - Occasional | | | 37 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ALG3 CL E G H | 10195 | 23056 | OMIM:601110 | Congenital disorder of glycosylation, type Id | . | | | 37 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | | | | 93 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | | | | 114 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:293168 | Infantile-onset ascending hereditary spastic paralysis | | | | 114 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 114 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:247604 | Juvenile primary lateral sclerosis | | | | 114 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:606353 | Primary lateral sclerosis, juvenile | | | | 114 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:607225 | Spastic paralysis, infantile-onset ascending | | | | 114 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AMACR CL E G H | 23600 | 451 | OMIM:614307 | Alpha-methylacyl-CoA racemase deficiency | | | | 44 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AMPD2 CL E G H | 271 | 469 | ORPHA:401805 | Autosomal recessive spastic paraplegia type 63 | HP:0040282 - Frequent | | | 21 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AMPD2 CL E G H | 271 | 469 | OMIM:615809 | Pontocerebellar hypoplasia, type 9 | | | | 21 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AMPD2 CL E G H | 271 | 469 | OMIM:615686 | Spastic paraplegia 63, autosomal recessive | | | | 21 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ANG CL E G H | 283 | 483 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 32 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ANG CL E G H | 283 | 483 | OMIM:611895 | Amyotrophic lateral sclerosis 9 | | | | 32 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ANK3 CL E G H | 288 | 494 | ORPHA:356996 | ANK3-related intellectual disability-sleep disturbance syndrome | | | | 176 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ANK3 CL E G H | 288 | 494 | OMIM:615493 | Mental retardation, autosomal recessive 37 | | | | 176 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ANKLE2 CL E G H | 23141 | 29101 | OMIM:616681 | Microcephaly 16, primary, autosomal recessive | | | | 3 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ANXA11 CL E G H | 311 | 535 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AP1G1 CL E G H | 164 | 555 | OMIM:619467 | USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AP1G1 CL E G H | 164 | 555 | OMIM:619548 | USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AP1S2 CL E G H | 8905 | 560 | ORPHA:85335 | Fried syndrome | | | | 13 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AP1S2 CL E G H | 8905 | 560 | OMIM:304340 | Pettigrew syndrome | | | | 13 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AP3B2 CL E G H | 8120 | 567 | OMIM:617276 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48 | | | | 7 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AP3B2 CL E G H | 8120 | 567 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 7 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AP4B1 CL E G H | 10717 | 572 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 49 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AP4B1 CL E G H | 10717 | 572 | OMIM:614066 | Spastic paraplegia 47, autosomal recessive | | | | 49 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AP4E1 CL E G H | 23431 | 573 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 48 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AP4E1 CL E G H | 23431 | 573 | OMIM:613744 | Spastic paraplegia 51, autosomal recessive | | | | 48 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AP4M1 CL E G H | 9179 | 574 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 41 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AP4M1 CL E G H | 9179 | 574 | OMIM:612936 | Spastic paraplegia 50, autosomal recessive | | | | 41 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AP4S1 CL E G H | 11154 | 575 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 18 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AP4S1 CL E G H | 11154 | 575 | OMIM:614067 | Spastic paraplegia 52, autosomal recessive | . | | | 18 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AP5Z1 CL E G H | 9907 | 22197 | ORPHA:306511 | Autosomal recessive spastic paraplegia type 48 | | | | 165 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AP5Z1 CL E G H | 9907 | 22197 | OMIM:613647 | Spastic paraplegia 48, autosomal recessive | | | | 165 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | | | | 3179 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | APC2 CL E G H | 10297 | 24036 | OMIM:618677 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10 | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | APOE CL E G H | 348 | 613 | OMIM:607822 | Alzheimer disease 3 | | | | 39 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | APP CL E G H | 351 | 620 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040281 - Very frequent | | | 74 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARF1 CL E G H | 375 | 652 | OMIM:618185 | Periventricular nodular heterotopia 8 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARG1 CL E G H | 383 | 663 | OMIM:207800 | Argininemia | | | | 31 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARG1 CL E G H | 383 | 663 | ORPHA:90 | Argininemia | | | | 31 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARHGEF9 CL E G H | 23229 | 14561 | OMIM:300607 | Epileptic encephalopathy, early infantile, 8 | . | | | 45 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARHGEF9 CL E G H | 23229 | 14561 | ORPHA:163985 | Hyperekplexia-epilepsy syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARL13B CL E G H | 200894 | 25419 | OMIM:612291 | JOUBERT SYNDROME 8; JBTS8 | | | | 62 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARL6IP1 CL E G H | 23204 | 697 | ORPHA:401780 | Autosomal recessive spastic paraplegia type 61 | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARL6IP1 CL E G H | 23204 | 697 | OMIM:615685 | Spastic paraplegia 61, autosomal recessive | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARNT2 CL E G H | 9915 | 16876 | OMIM:615926 | Webb-Dattani syndrome | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARSA CL E G H | 410 | 713 | OMIM:250100 | Metachromatic leukodystrophy | | | | 253 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | | | | 253 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | | | | 253 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | | | | 253 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARSI CL E G H | 340075 | 32521 | ORPHA:401815 | Autosomal recessive spastic paraplegia type 66 | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARV1 CL E G H | 64801 | 29561 | OMIM:617020 | Epileptic encephalopathy, early infantile, 38 | . | | | 3 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARV1 CL E G H | 64801 | 29561 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 3 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:2508 | Corpus callosum agenesis-abnormal genitalia syndrome | | | | 166 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARX CL E G H | 170302 | 18060 | OMIM:300004 | Corpus callosum, agenesis of, with abnormal genitalia | | | | 166 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARX CL E G H | 170302 | 18060 | OMIM:308350 | Developmental and epileptic encephalopathy 1 | . | | | 166 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 166 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARX CL E G H | 170302 | 18060 | OMIM:300215 | Lissencephaly, X-linked, 2 | | | | 166 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARX CL E G H | 170302 | 18060 | OMIM:309510 | Partington syndrome | | | | 166 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:94083 | Partington syndrome | | | | 166 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:452 | X-linked lissencephaly with abnormal genitalia | | | | 166 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:3175 | X-linked spasticity-intellectual disability-epilepsy syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | | | | 78 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ASNS CL E G H | 440 | 753 | OMIM:615574 | Asparagine synthetase deficiency | | | | 17 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ASPA CL E G H | 443 | 756 | OMIM:271900 | Canavan disease | | | | 48 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ASPA CL E G H | 443 | 756 | ORPHA:314911 | Severe Canavan disease | | | | 48 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ASXL2 CL E G H | 55252 | 23805 | OMIM:617190 | Shashi-Pena syndrome | | | | 7 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ASXL3 CL E G H | 80816 | 29357 | ORPHA:352577 | Bainbridge-Ropers syndrome | HP:0040283 - Occasional | | | 49 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATAD1 CL E G H | 84896 | 25903 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040281 - Very frequent | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATAD1 CL E G H | 84896 | 25903 | OMIM:618011 | Hyperekplexia 4 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:617183 | Harel-Yoon syndrome | | | | 5 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATAD3A CL E G H | 55210 | 25567 | ORPHA:496790 | Ocular anomalies-axonal neuropathy-developmental delay syndrome | | | | 5 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:618810 | PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL | | | | 5 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATL1 CL E G H | 51062 | 11231 | ORPHA:100984 | Autosomal dominant spastic paraplegia type 3 | | | | 71 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATL1 CL E G H | 51062 | 11231 | OMIM:182600 | Spastic paraplegia 3, autosomal dominant | | | | 71 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATM CL E G H | 472 | 795 | ORPHA:100 | Ataxia-telangiectasia | | | | 3267 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | | | | 16 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:314632 | ATP13A2-related juvenile neuronal ceroid lipofuscinosis | | | | 100 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:513436 | Autosomal recessive spastic paraplegia type 78 | | | | 100 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | HP:0040283 - Occasional | | | 100 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:617225 | SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78 | | | | 100 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 239 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 239 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 150 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 150 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP2B3 CL E G H | 492 | 816 | ORPHA:314978 | X-linked non progressive cerebellar ataxia | | | | 19 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP5MC3 CL E G H | 518 | 843 | OMIM:619681 | DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040283 - Occasional | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:320360 | MT-ATP6-related mitochondrial spastic paraplegia | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300423 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH | | | | 36 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300911 | Parkinsonism with spasticity, X-linked | | | | 36 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | | | | 36 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:363654 | X-linked parkinsonism-spasticity syndrome | | | | 36 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP6V0A1 CL E G H | 535 | 865 | OMIM:619971 | | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | | | | 140 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | | | | 3 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:618012 | Epileptic encephalopathy, infantile or early childhood, 3 | | | | 3 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 3 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP6V1E1 CL E G H | 529 | 857 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | | | | 2 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:565 | Menkes disease | HP:0040281 - Very frequent | | | 192 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP7A CL E G H | 538 | 869 | OMIM:309400 | Menkes disease | . | | | 192 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATPAF2 CL E G H | 91647 | 18802 | OMIM:604273 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 1 | | | | 32 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | | | | 169 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | | | | 169 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | | | | 169 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | | | | 19 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATXN10 CL E G H | 25814 | 10549 | ORPHA:98761 | Spinocerebellar ataxia type 10 | | | | 9 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 11 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:168600 | Parkinson disease, late-onset | | | | 11 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | | | | 11 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | | | | 14 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276238 | Machado-Joseph disease type 1 | | | | 14 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276241 | Machado-Joseph disease type 2 | | | | 14 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276244 | Machado-Joseph disease type 3 | | | | 14 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATXN7 CL E G H | 6314 | 10560 | OMIM:164500 | Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II | | | | 8 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATXN8 CL E G H | 724066 | 32925 | OMIM:608768 | Spinocerebellar ataxia 8 | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATXN8 CL E G H | 724066 | 32925 | ORPHA:98760 | Spinocerebellar ataxia type 8 | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:168600 | Parkinson disease, late-onset | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:608768 | Spinocerebellar ataxia 8 | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATXN8OS CL E G H | 6315 | 10561 | ORPHA:98760 | Spinocerebellar ataxia type 8 | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AUH CL E G H | 549 | 890 | ORPHA:67046 | 3-methylglutaconic aciduria type 1 | | | | 49 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AUH CL E G H | 549 | 890 | OMIM:250950 | 3-methylglutaconic aciduria, type I | | | | 49 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AUTS2 CL E G H | 26053 | 14262 | ORPHA:352490 | Autism spectrum disorder due to AUTS2 deficiency | HP:0040283 - Occasional | | | 61 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AUTS2 CL E G H | 26053 | 14262 | OMIM:615834 | Mental retardation, autosomal dominant 26 | HP:0040283 - Occasional | | | 61 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:588 | Muscle-eye-brain disease | HP:0040282 - Frequent | | | 43 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | B4GALNT1 CL E G H | 2583 | 4117 | ORPHA:101006 | Autosomal recessive spastic paraplegia type 26 | | | | 25 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | B4GALNT1 CL E G H | 2583 | 4117 | OMIM:609195 | Spastic paraplegia 26, autosomal recessive | | | | 25 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | | | | 17 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BCAS3 CL E G H | 54828 | 14347 | OMIM:619641 | HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS | | | | 2 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BCKDHA CL E G H | 593 | 986 | OMIM:248600 | Maple syrup urine disease | . | | | 120 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BCKDHB CL E G H | 594 | 987 | OMIM:248600 | Maple syrup urine disease | . | | | 162 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:617237 | Immunodeficiency 49 | | | | 3 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | | | | 3 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 101 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BCS1L CL E G H | 617 | 1020 | OMIM:124000 | Mitochondrial complex III deficiency, nuclear type 1 | | | | 72 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BEAN1 CL E G H | 146227 | 24160 | ORPHA:217012 | Spinocerebellar ataxia type 31 | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | | | | 46 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040282 - Frequent | | | 385 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BOLA3 CL E G H | 388962 | 24415 | OMIM:614299 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | | | | 14 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | . | | | 276 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BRAT1 CL E G H | 221927 | 21701 | OMIM:618056 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | . | | | 20 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BRAT1 CL E G H | 221927 | 21701 | OMIM:614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | . | | | 20 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | | | | 7 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:100998 | Autosomal dominant spastic paraplegia type 17 | | | | 105 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:615924 | Encephalopathy, progressive, with or without lipodystrophy | | | | 105 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:363400 | Severe neurodegenerative syndrome with lipodystrophy | | | | 105 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:270685 | Spastic paraplegia 17 | | | | 105 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BTD CL E G H | 686 | 1122 | ORPHA:79241 | Biotinidase deficiency | | | | 223 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:320370 | Autosomal recessive spastic paraplegia type 43 | | | | 114 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:289560 | Mitochondrial membrane protein-associated neurodegeneration | | | | 114 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | | | | 114 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:615043 | Spastic paraplegia 43, autosomal recessive | | | | 114 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | C2ORF69 CL E G H | 205327 | 26799 | OMIM:619423 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 56 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:401901 | Huntington disease-like syndrome due to C9ORF72 expansions | | | | 56 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 449 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:617106 | Epileptic encephalopathy, early infantile, 42 | . | | | 449 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 449 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CACNA1B CL E G H | 774 | 1389 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 5 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CACNA1D CL E G H | 776 | 1391 | OMIM:615474 | Primary aldosteronism, seizures, and neurologic abnormalities | | | | 51 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CACNA1D CL E G H | 776 | 1391 | ORPHA:369929 | Primary hyperaldosteronism-seizures-neurological abnormalities syndrome | | | | 51 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CACNA1E CL E G H | 777 | 1392 | OMIM:618285 | Developmental and epileptic encephalopathy 69 | | | | 11 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CACNA1G CL E G H | 8913 | 1394 | OMIM:616795 | Spinocerebellar ataxia 42 | | | | 32 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CACNA1G CL E G H | 8913 | 1394 | OMIM:618087 | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | | | | 32 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | | | | 32 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CACNA2D1 CL E G H | 781 | 1399 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 59 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CAMK2A CL E G H | 815 | 1460 | OMIM:618095 | Mental retardation, autosomal recessive 63 | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CAPN1 CL E G H | 823 | 1476 | ORPHA:488594 | Autosomal recessive spastic paraplegia type 76 | | | | 4 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CAPN1 CL E G H | 823 | 1476 | OMIM:616907 | SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76 | | | | 4 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CARS2 CL E G H | 79587 | 25695 | OMIM:616672 | Combined oxidative phosphorylation deficiency 27 | | | | 35 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 118 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300749 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | . | | | 118 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:163937 | X-linked intellectual disability, Najm type | | | | 118 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CCDC88C CL E G H | 440193 | 19967 | OMIM:616053 | Spinocerebellar ataxia 40 | | | | 54 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CCDC88C CL E G H | 440193 | 19967 | ORPHA:423275 | Spinocerebellar ataxia type 40 | | | | 54 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CCNF CL E G H | 899 | 1591 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CCT5 CL E G H | 22948 | 1618 | ORPHA:139578 | Mutilating hereditary sensory neuropathy with spastic paraplegia | | | | 56 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CCT5 CL E G H | 22948 | 1618 | OMIM:256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | | | | 56 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CDC40 CL E G H | 51362 | 17350 | OMIM:619302 | PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CDK19 CL E G H | 23097 | 19338 | OMIM:618916 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CDK19 CL E G H | 23097 | 19338 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3095 | Atypical Rett syndrome | | | | 405 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 405 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | | | | 200 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | | | | 200 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 200 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 200 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CELF2 CL E G H | 10659 | 2550 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CEP85L CL E G H | 387119 | 21638 | ORPHA:572013 | Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CFAP410 CL E G H | 755 | 1260 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 11 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CHKA CL E G H | 1119 | 1937 | OMIM:620023 | | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CHMP1A CL E G H | 5119 | 8740 | OMIM:614961 | Pontocerebellar hypoplasia, type 8 | | | | 19 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 42 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CHMP2B CL E G H | 25978 | 24537 | OMIM:600795 | Frontotemporal dementia and/or amytrophic lateral sclerosis 7 | | | | 42 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CHP1 CL E G H | 11261 | 17433 | OMIM:618438 | Spastic ataxia 9, autosomal recessive | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CIT CL E G H | 11113 | 1985 | OMIM:617090 | Microcephaly 17, primary, autosomal recessive | | | | 15 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CKAP2L CL E G H | 150468 | 26877 | ORPHA:3255 | Filippi syndrome | | | | 7 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CLCF1 CL E G H | 23529 | 17412 | ORPHA:1545 | Crisponi syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619517 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA | | | | 2 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CLCN4 CL E G H | 1183 | 2022 | ORPHA:485350 | CLCN4-related X-linked intellectual disability syndrome | | | | 45 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CLCN4 CL E G H | 1183 | 2022 | OMIM:300114 | Raynaud-Claes syndrome | | | | 45 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CLDN11 CL E G H | 5010 | 8514 | OMIM:619328 | Leukodystrophy, hypomyelinating, 22 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CLIC2 CL E G H | 1193 | 2063 | OMIM:300886 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32 | | | | 4 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CLIC2 CL E G H | 1193 | 2063 | ORPHA:324410 | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | | | | 4 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CLN5 CL E G H | 1203 | 2076 | ORPHA:228360 | CLN5 disease | | | | 141 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CLN8 CL E G H | 2055 | 2079 | ORPHA:1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type | | | | 111 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CLP1 CL E G H | 10978 | 16999 | ORPHA:411493 | Pontocerebellar hypoplasia type 10 | HP:0040282 - Frequent | | | 7 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CLP1 CL E G H | 10978 | 16999 | OMIM:615803 | Pontocerebellar hypoplasia, type 10 | . | | | 7 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CLPB CL E G H | 81570 | 30664 | ORPHA:445038 | 3-methylglutaconic aciduria type 7 | HP:0040283 - Occasional | | | 38 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | | | | 38 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CLTC CL E G H | 1213 | 2092 | OMIM:617854 | Mental retardation, autosomal dominant 56 | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CLTC CL E G H | 1213 | 2092 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CNKSR2 CL E G H | 22866 | 19701 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 18 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CNOT1 CL E G H | 23019 | 7877 | OMIM:618500 | Holoprosencephaly 12 with or without pancreatic agenesis | | | | 2 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CNP CL E G H | 1267 | 2158 | OMIM:619071 | LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CNPY3 CL E G H | 10695 | 11968 | OMIM:617929 | Epileptic encephalopathy, early infantile, 60 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:618186 | Neuropathy, congenital hypomyelinating, 3 | | | | 9 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CNTNAP2 CL E G H | 26047 | 13830 | ORPHA:163681 | CNTNAP2-related developmental and epileptic encephalopathy | | | | 518 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CNTNAP2 CL E G H | 26047 | 13830 | OMIM:610042 | Pitt-Hopkins-Like syndrome 1 | | | | 518 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | COA8 CL E G H | 84334 | 20492 | OMIM:619061 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | COASY CL E G H | 80347 | 29932 | ORPHA:397725 | COASY protein-associated neurodegeneration | | | | 16 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | COASY CL E G H | 80347 | 29932 | OMIM:615643 | Neurodegeneration with brain iron accumulation 6 | | | | 16 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | COG2 CL E G H | 22796 | 6546 | ORPHA:435934 | COG2-CDG | | | | 2 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | COG2 CL E G H | 22796 | 6546 | OMIM:617395 | Congenital disorder of glycosylation, type IIq | | | | 2 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | | | | 67 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | COG4 CL E G H | 25839 | 18620 | OMIM:613489 | Congenital disorder of glycosylation, type IIj | . | | | 67 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | | | | 193 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | COL4A2 CL E G H | 1284 | 2203 | OMIM:614483 | PORENCEPHALY 2; POREN2 | | | | 147 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | COLGALT1 CL E G H | 79709 | 26182 | OMIM:618360 | Brain small vessel disease 3 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | COPB1 CL E G H | 1315 | 2231 | OMIM:619255 | BARALLE-MACKEN SYNDROME; BARMACS | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | COPB2 CL E G H | 9276 | 2232 | OMIM:619884 | | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | COPB2 CL E G H | 9276 | 2232 | OMIM:617800 | Microcephaly 19, primary, autosomal recessive | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:146500 | Multiple system atrophy 1, susceptibility to | | | | 54 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | | | | 54 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | | | | 54 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | COQ5 CL E G H | 84274 | 28722 | OMIM:619028 | COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | COQ9 CL E G H | 57017 | 25302 | OMIM:614654 | Coenzyme Q10 deficiency, primary, 5 | . | | | 44 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | COX15 CL E G H | 1355 | 2263 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 104 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | COX8A CL E G H | 1351 | 2294 | OMIM:619059 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15 | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CP CL E G H | 1356 | 2295 | ORPHA:48818 | Aceruloplasminemia | | | | 115 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CP CL E G H | 1356 | 2295 | OMIM:604290 | ACERULOPLASMINEMIA | | | | 115 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CPSF3 CL E G H | 51692 | 2326 | OMIM:619876 | | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CPT1C CL E G H | 126129 | 18540 | ORPHA:444099 | Autosomal dominant spastic paraplegia type 73 | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CPT1C CL E G H | 126129 | 18540 | OMIM:616282 | Spastic paraplegia 73, autosomal dominant | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CRLF1 CL E G H | 9244 | 2364 | ORPHA:1545 | Crisponi syndrome | HP:0040281 - Very frequent | | | 24 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CRLF1 CL E G H | 9244 | 2364 | OMIM:272430 | Crisponi/cold-induced sweating syndrome 1 | | | | 24 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CRYAB CL E G H | 1410 | 2389 | OMIM:613869 | Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related | | | | 46 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:618476 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | | | | 149 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:221820 | Leukoencephalopathy, diffuse hereditary, with spheroids | | | | 149 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CTC1 CL E G H | 80169 | 26169 | OMIM:612199 | Cerebroretinal microangiopathy with calcifications and cysts | | | | 160 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CTNNA2 CL E G H | 1496 | 2510 | OMIM:618174 | Cortical dysplasia, complex, with other brain malformations 9 | | | | 2 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:615075 | Neurodevelopmental disorder with spastic diplegia and visual defects | | | | 88 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:404473 | Severe intellectual disability-progressive spastic diplegia syndrome | | | | 88 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CTSD CL E G H | 1509 | 2529 | OMIM:610127 | Ceroid lipofuscinosis, neuronal, 10 | | | | 159 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CYB5A CL E G H | 1528 | 2570 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040284 - Very rare | | | 2 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CYB5R3 CL E G H | 1727 | 2873 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040284 - Very rare | | | 24 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CYB5R3 CL E G H | 1727 | 2873 | OMIM:250800 | Methemoglobinemia due to deficiency of methemoglobin reductase | . | | | 24 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CYFIP2 CL E G H | 26999 | 13760 | OMIM:618008 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65 | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CYFIP2 CL E G H | 26999 | 13760 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CYP27A1 CL E G H | 1593 | 2605 | OMIM:213700 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CYP2U1 CL E G H | 113612 | 20582 | ORPHA:320411 | Autosomal recessive spastic paraplegia type 56 | | | | 18 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CYP2U1 CL E G H | 113612 | 20582 | OMIM:615030 | Spastic paraplegia 56, autosomal recessive | | | | 18 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:100986 | Autosomal recessive spastic paraplegia type 5A | | | | 57 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:270800 | Spastic paraplegia 5A, autosomal recessive | | | | 57 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DAB1 CL E G H | 1600 | 2661 | ORPHA:363710 | Spinocerebellar ataxia type 37 | | | | 4 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DALRD3 CL E G H | 55152 | 25536 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DAO CL E G H | 1610 | 2671 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DARS1 CL E G H | 1615 | 2678 | OMIM:615281 | HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DARS2 CL E G H | 55157 | 25538 | ORPHA:137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | HP:0040284 - Very rare | | | 60 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DARS2 CL E G H | 55157 | 25538 | OMIM:611105 | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation | | | | 60 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DBT CL E G H | 1629 | 2698 | OMIM:248600 | Maple syrup urine disease | . | | | 156 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DCTN1 CL E G H | 1639 | 2711 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 86 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | | | | 86 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:168605 | Perry syndrome | | | | 86 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DCX CL E G H | 1641 | 2714 | OMIM:300067 | Lissencephaly, X-linked, 1 | | | | 145 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | | | | 30 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DDC CL E G H | 1644 | 2719 | OMIM:608643 | Aromatic L-amino acid decarboxylase deficiency | | | | 43 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DDHD1 CL E G H | 80821 | 19714 | ORPHA:101008 | Autosomal recessive spastic paraplegia type 28 | | | | 35 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DDHD1 CL E G H | 80821 | 19714 | OMIM:609340 | Spastic paraplegia 28, autosomal recessive | | | | 35 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DDHD2 CL E G H | 23259 | 29106 | ORPHA:320380 | Autosomal recessive spastic paraplegia type 54 | | | | 29 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DDHD2 CL E G H | 23259 | 29106 | OMIM:615033 | Spastic paraplegia 54, autosomal recessive | | | | 29 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DDX3X CL E G H | 1654 | 2745 | OMIM:300958 | MENTAL RETARDATION, X-LINKED 102; MRX102 | | | | 57 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DDX3X CL E G H | 1654 | 2745 | ORPHA:457260 | X-linked intellectual disability-hypotonia-movement disorder syndrome | | | | 57 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DEGS1 CL E G H | 8560 | 13709 | OMIM:618404 | Leukodystrophy, hypomyelinating, 18 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DENND5A CL E G H | 23258 | 19344 | OMIM:617281 | Epileptic encephalopathy, early infantile, 49 | | | | 6 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DHCR24 CL E G H | 1718 | 2859 | OMIM:602398 | DESMOSTEROLOSIS | | | | 72 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DHCR24 CL E G H | 1718 | 2859 | ORPHA:35107 | Desmosterolosis | HP:0040281 - Very frequent | | | 72 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040283 - Occasional | | | 159 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DHDDS CL E G H | 79947 | 20603 | OMIM:617836 | Developmental delay and seizures with or without movement abnormalities | | | | 47 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DHDDS CL E G H | 79947 | 20603 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 47 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DHDDS CL E G H | 79947 | 20603 | OMIM:613861 | Retinitis pigmentosa 59 | | | | 47 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DHPS CL E G H | 1725 | 2869 | OMIM:618480 | Neurodevelopmental disorder with seizures and speech and walking impairment | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | | | | 22 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | | | | 22 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 22 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 22 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DLAT CL E G H | 1737 | 2896 | ORPHA:79244 | Pyruvate dehydrogenase E2 deficiency | HP:0040282 - Frequent | | | 82 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DLD CL E G H | 1738 | 2898 | ORPHA:2394 | Pyruvate dehydrogenase E3 deficiency | | | | 89 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | | | | 3 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | | | | 3 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 3 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 3 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 3 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DNAJC12 CL E G H | 56521 | 28908 | OMIM:617384 | Hyperphenylalaninemia, MILD, non-bh4-deficient | . | | | 3 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 2 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DNAJC19 CL E G H | 131118 | 30528 | ORPHA:66634 | Dilated cardiomyopathy with ataxia | | | | 25 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:391411 | Atypical juvenile parkinsonism | | | | 6 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DNAJC6 CL E G H | 9829 | 15469 | OMIM:615528 | Parkinson disease 19a, juvenile-onset | | | | 6 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:2828 | Young-onset Parkinson disease | | | | 6 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DNM1 CL E G H | 1759 | 2972 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 72 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DNM1L CL E G H | 10059 | 2973 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | | | | 94 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DNMT1 CL E G H | 1786 | 2976 | ORPHA:314404 | Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome | | | | 145 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DNMT1 CL E G H | 1786 | 2976 | OMIM:604121 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | | | | 145 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:608093 | Congenital disorder of glycosylation, type Ij | . | | | 38 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040283 - Occasional | | | 38 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | | | | 27 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DPYD CL E G H | 1806 | 3012 | OMIM:274270 | Dihydropyrimidine dehydrogenase deficiency | . | | | 144 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | HP:0040283 - Occasional | | | 144 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DSTYK CL E G H | 25778 | 29043 | ORPHA:101003 | Autosomal recessive spastic paraplegia type 23 | | | | 13 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DSTYK CL E G H | 25778 | 29043 | OMIM:270750 | Spastic paraplegia 23 | | | | 13 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DTYMK CL E G H | 1841 | 3061 | OMIM:619847 | | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:614563 | Mental retardation, autosomal dominant 13 | | | | 427 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DYNC1I2 CL E G H | 1781 | 2964 | OMIM:618492 | Neurodevelopmental disorder with microcephaly and structural brain anomalies | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040283 - Occasional | | | 134 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EARS2 CL E G H | 124454 | 29419 | OMIM:614924 | Combined oxidative phosphorylation deficiency 12 | | | | 80 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:401973 | MEND syndrome | | | | 51 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EBP CL E G H | 10682 | 3133 | OMIM:300960 | Mend syndrome | . | | | 51 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ECHS1 CL E G H | 1892 | 3151 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 33 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ECHS1 CL E G H | 1892 | 3151 | OMIM:616277 | Mitochondrial short-chain enoyl-coa hydratase 1 deficiency | | | | 33 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EDNRB CL E G H | 1910 | 3180 | OMIM:277580 | Waardenburg-Shah syndrome | | | | 55 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EED CL E G H | 8726 | 3188 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EEF1A2 CL E G H | 1917 | 3192 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 60 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EIF2AK1 CL E G H | 27102 | 24921 | OMIM:618878 | LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EIF2AK2 CL E G H | 5610 | 9437 | OMIM:619687 | DYSTONIA 33; DYT33 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EIF2AK2 CL E G H | 5610 | 9437 | ORPHA:256 | Early-onset generalized limb-onset dystonia | HP:0040281 - Very frequent | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EIF2AK2 CL E G H | 5610 | 9437 | OMIM:618877 | LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | . | | | 65 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EIF2B1 CL E G H | 1967 | 3257 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | | | | 42 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EIF2B2 CL E G H | 8892 | 3258 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | | | | 24 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EIF2B3 CL E G H | 8891 | 3259 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | | | | 32 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EIF2B4 CL E G H | 8890 | 3260 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | | | | 38 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EIF2B5 CL E G H | 8893 | 3261 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | | | | 48 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EIF2S3 CL E G H | 1968 | 3267 | ORPHA:85282 | MEHMO syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | | | | 8 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 2 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EIF4G1 CL E G H | 1981 | 3296 | OMIM:614251 | Parkinson disease 18 | | | | 2 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ELOVL1 CL E G H | 64834 | 14418 | OMIM:618527 | Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:614457 | Ichthyosis, spastic quadriplegia, and mental retardation | . | | | 62 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:133190 | Spinocerebellar ataxia 34 | | | | 62 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ELP2 CL E G H | 55250 | 18248 | OMIM:617270 | Mental retardation, autosomal recessive 58 | | | | 6 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EMC1 CL E G H | 23065 | 28957 | OMIM:616875 | Cerebellar atrophy, visual impairment, and psychomotor retardation | | | | 5 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EMC1 CL E G H | 23065 | 28957 | ORPHA:480898 | Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | | | | 5 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EML1 CL E G H | 2009 | 3330 | OMIM:600348 | Band heterotopia | | | | 3 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ENTPD1 CL E G H | 953 | 3363 | ORPHA:401810 | Autosomal recessive spastic paraplegia type 64 | | | | 3 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ENTPD1 CL E G H | 953 | 3363 | OMIM:615683 | Spastic paraplegia 64, autosomal recessive | | | | 3 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 170 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EPHA4 CL E G H | 2043 | 3388 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 4 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EPM2A CL E G H | 7957 | 3413 | ORPHA:501 | Lafora disease | | | | 83 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERBB4 CL E G H | 2066 | 3432 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 15 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC1 CL E G H | 2067 | 3433 | OMIM:610758 | Cerebrooculofacioskeletal syndrome 4 | . | | | 20 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 20 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 20 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | | | | 106 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:278730 | Xeroderma pigmentosum, complementation group D | | | | 106 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | | | | 106 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | | | | 54 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | | | | 54 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 158 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | | | | 158 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | | | | 158 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 83 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | | | | 83 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC5 CL E G H | 2073 | 3437 | OMIM:278780 | Xeroderma pigmentosum, complementation group G | | | | 83 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | | | | 83 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 199 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 199 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 199 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:278800 | De Sanctis-Cacchione syndrome | | | | 199 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 55 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 55 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERLIN1 CL E G H | 10613 | 16947 | ORPHA:401785 | Autosomal recessive spastic paraplegia type 62 | | | | 2 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERLIN1 CL E G H | 10613 | 16947 | OMIM:615681 | Spastic paraplegia 62, autosomal recessive | | | | 2 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:209951 | Autosomal recessive spastic paraplegia type 18 | | | | 18 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:247604 | Juvenile primary lateral sclerosis | | | | 18 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERLIN2 CL E G H | 11160 | 1356 | OMIM:611225 | Spastic paraplegia 18, autosomal recessive | | | | 18 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EXOC8 CL E G H | 149371 | 24659 | OMIM:619076 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EXOSC3 CL E G H | 51010 | 17944 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 38 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EXOSC3 CL E G H | 51010 | 17944 | OMIM:614678 | Pontocerebellar hypoplasia, type 1B | | | | 38 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EXOSC5 CL E G H | 56915 | 24662 | OMIM:619576 | CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EXOSC8 CL E G H | 11340 | 17035 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 4 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EXOSC8 CL E G H | 11340 | 17035 | OMIM:616081 | Pontocerebellar hypoplasia, type 1C | | | | 4 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EXOSC9 CL E G H | 5393 | 9137 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EYA1 CL E G H | 2138 | 3519 | ORPHA:2792 | Otofaciocervical syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | . | | | 81 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EZH2 CL E G H | 2146 | 3527 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 81 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | | | | 76 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:329308 | Fatty acid hydroxylase-associated neurodegeneration | | | | 76 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FA2H CL E G H | 79152 | 21197 | OMIM:612319 | Spastic paraplegia 35, autosomal recessive | | | | 76 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FAN1 CL E G H | 22909 | 29170 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FAR1 CL E G H | 84188 | 26222 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | | | | 7 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FAR1 CL E G H | 84188 | 26222 | OMIM:619338 | CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD | | | | 7 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FAR1 CL E G H | 84188 | 26222 | ORPHA:438178 | Fatty acyl-CoA reductase 1 deficiency | | | | 7 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FAR1 CL E G H | 84188 | 26222 | OMIM:616154 | PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD | | | | 7 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FARS2 CL E G H | 10667 | 21062 | ORPHA:466722 | Autosomal recessive spastic paraplegia type 77 | | | | 36 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FARS2 CL E G H | 10667 | 21062 | OMIM:617046 | Spastic paraplegia 77, autosomal recessive | | | | 36 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FBLN1 CL E G H | 2192 | 3600 | ORPHA:404451 | FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome | | | | 12 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FBXO7 CL E G H | 25793 | 13586 | OMIM:260300 | Parkinson disease 15, autosomal recessive early-onset | | | | 36 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FBXO7 CL E G H | 25793 | 13586 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | | | | 36 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FBXW11 CL E G H | 23291 | 13607 | OMIM:618914 | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FCSK CL E G H | 197258 | 29500 | OMIM:618324 | Congenital disorder of glycosylation with defective fucosylation 2 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FDX2 CL E G H | 112812 | 30546 | OMIM:251900 | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FDXR CL E G H | 2232 | 3642 | ORPHA:543470 | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | HP:0040283 - Occasional | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FGF12 CL E G H | 2257 | 3668 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 3 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FGF13 CL E G H | 2258 | 3670 | OMIM:301058 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90 | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FGF13 CL E G H | 2258 | 3670 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | | | | 17 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | | | | 17 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 17 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 17 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040282 - Frequent | | | 172 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | | | | 172 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 172 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 111 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:208441 | Bilateral parasagittal parieto-occipital polymicrogyria | | | | 111 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:588 | Muscle-eye-brain disease | HP:0040282 - Frequent | | | 157 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:588 | Muscle-eye-brain disease | HP:0040282 - Frequent | | | 184 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:300048 | Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | | | | 493 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FLRT1 CL E G H | 23769 | 3760 | ORPHA:320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:93256 | Fragile X-associated tremor/ataxia syndrome | | | | 30 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FOXG1 CL E G H | 2290 | 3811 | OMIM:613454 | Rett syndrome, congenital variant | | | | 177 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | | | | 48 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | | | | 48 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 48 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 48 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:391372 | Intellectual disability-severe speech delay-mild dysmorphism syndrome | | | | 184 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 61 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FOXRED1 CL E G H | 55572 | 26927 | OMIM:618241 | Mitochondrial complex I deficiency, nuclear type 19 | | | | 61 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FRMD4A CL E G H | 55691 | 25491 | ORPHA:466688 | Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FRMD5 CL E G H | 84978 | 28214 | OMIM:620094 | | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FRMPD4 CL E G H | 9758 | 29007 | OMIM:300983 | MENTAL RETARDATION, X-LINKED 104; MRX104 | | | | 32 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FRRS1L CL E G H | 23732 | 1362 | OMIM:616981 | Epileptic encephalopathy, early infantile, 37 | | | | 4 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FTL CL E G H | 2512 | 3999 | OMIM:606159 | Neurodegeneration with brain iron accumulation 3 | | | | 33 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FTO CL E G H | 79068 | 24678 | OMIM:612938 | Growth retardation, developmental delay, coarse facies, and earlydeath | . | | | 70 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FUCA1 CL E G H | 2517 | 4006 | OMIM:230000 | FUCOSIDOSIS | | | | 43 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FUCA1 CL E G H | 2517 | 4006 | ORPHA:349 | Fucosidosis | | | | 43 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 105 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 105 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:1136 | Arnold-Chiari malformation type II | | | | 3 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | | | | 18 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FZR1 CL E G H | 51343 | 24824 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:3095 | Atypical Rett syndrome | | | | 5 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 5 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | | | | 134 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GABRA2 CL E G H | 2555 | 4076 | OMIM:618557 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78 | | | | 4 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GABRA2 CL E G H | 2555 | 4076 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 4 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GABRA5 CL E G H | 2558 | 4079 | OMIM:618559 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GABRA5 CL E G H | 2558 | 4079 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GABRB2 CL E G H | 2561 | 4082 | OMIM:617829 | Epileptic encephalopathy, infantile or early childhood, 2 | | | | 44 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GABRB2 CL E G H | 2561 | 4082 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 44 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | | | | 139 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 139 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GAD1 CL E G H | 2571 | 4092 | OMIM:619124 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89 | | | | 44 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206448 | Adult Krabbe disease | | | | 160 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | | | | 160 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GALC CL E G H | 2581 | 4115 | OMIM:245200 | Krabbe disease | . | | | 160 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206443 | Late-infantile/juvenile Krabbe disease | | | | 160 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GAMT CL E G H | 2593 | 4136 | OMIM:612736 | Cerebral creatine deficiency syndrome 2 | . | | | 91 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GAN CL E G H | 8139 | 4137 | ORPHA:643 | Giant axonal neuropathy | | | | 121 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GAN CL E G H | 8139 | 4137 | OMIM:256850 | Giant axonal neuropathy 1, autosomal recessive | | | | 121 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | | | | 2 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | | | | 2 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 2 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 2 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GATAD2B CL E G H | 57459 | 30778 | ORPHA:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | | | | 33 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:85212 | Fetal Gaucher disease | HP:0040282 - Frequent | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77260 | Gaucher disease type 2 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:230900 | Gaucher disease, type II | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:231000 | Gaucher disease, type III | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | HP:0040284 - Very rare | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:168600 | Parkinson disease, late-onset | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GBA2 CL E G H | 57704 | 18986 | ORPHA:352641 | Autosomal recessive cerebellar ataxia with late-onset spasticity | | | | 30 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GBA2 CL E G H | 57704 | 18986 | ORPHA:320391 | Autosomal recessive spastic paraplegia type 46 | | | | 30 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | | | | 30 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GBE1 CL E G H | 2632 | 4180 | ORPHA:206583 | Adult polyglucosan body disease | | | | 86 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GBE1 CL E G H | 2632 | 4180 | OMIM:263570 | Polyglucosan body neuropathy, adult form | | | | 86 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GCDH CL E G H | 2639 | 4189 | OMIM:231670 | Glutaric acidemia I | | | | 115 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GCDH CL E G H | 2639 | 4189 | ORPHA:25 | Glutaryl-CoA dehydrogenase deficiency | | | | 115 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GCH1 CL E G H | 2643 | 4193 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | | | | 86 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GCH1 CL E G H | 2643 | 4193 | OMIM:128230 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | | | | 86 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GCH1 CL E G H | 2643 | 4193 | OMIM:233910 | Hyperphenylalaninemia, BH4-deficient, B | | | | 86 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GDAP2 CL E G H | 54834 | 18010 | OMIM:618369 | Spinocerebellar ataxia, autosomal recessive 27 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GEMIN4 CL E G H | 50628 | 15717 | OMIM:617913 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GFAP CL E G H | 2670 | 4235 | OMIM:203450 | Alexander disease | | | | 188 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GFAP CL E G H | 2670 | 4235 | ORPHA:363717 | Alexander disease type I | | | | 188 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GFAP CL E G H | 2670 | 4235 | ORPHA:363722 | Alexander disease type II | | | | 188 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GFM1 CL E G H | 85476 | 13780 | OMIM:609060 | Combined oxidative phosphorylation deficiency 1 | | | | 85 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | | | | 43 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GFM2 CL E G H | 84340 | 29682 | OMIM:618397 | Combined oxidative phosphorylation deficiency 39 | | | | 43 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 8 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GIGYF2 CL E G H | 26058 | 11960 | OMIM:607688 | PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11 | | | | 8 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GJB1 CL E G H | 2705 | 4283 | ORPHA:1175 | X-linked progressive cerebellar ataxia | | | | 107 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GJC2 CL E G H | 57165 | 17494 | ORPHA:320401 | Autosomal recessive spastic paraplegia type 44 | | | | 37 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | | | | 37 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:613206 | Spastic paraplegia 44, autosomal recessive | | | | 37 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | | | | 120 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | | | | 120 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230600 | Gm1-gangliosidosis, type II | | | | 120 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GLE1 CL E G H | 2733 | 4315 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 45 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | | | | 173 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | | | | 173 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 173 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 173 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GLRA1 CL E G H | 2741 | 4326 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040281 - Very frequent | | | 63 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GLRA1 CL E G H | 2741 | 4326 | OMIM:149400 | Hyperekplexia 1 | . | | | 63 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GLRB CL E G H | 2743 | 4329 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040281 - Very frequent | | | 46 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GLRB CL E G H | 2743 | 4329 | OMIM:614619 | Hyperekplexia 2 | . | | | 46 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GLRX5 CL E G H | 51218 | 20134 | ORPHA:401866 | Childhood-onset spasticity with hyperglycinemia | HP:0040282 - Frequent | | | 17 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GLRX5 CL E G H | 51218 | 20134 | OMIM:616859 | Spasticity, childhood-onset, with hyperglycinemia | | | | 17 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GLT8D1 CL E G H | 55830 | 24870 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GLUD2 CL E G H | 2747 | 4336 | OMIM:168600 | Parkinson disease, late-onset | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GLYCTK CL E G H | 132158 | 24247 | OMIM:220120 | D-GLYCERIC ACIDURIA | | | | 6 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GLYCTK CL E G H | 132158 | 24247 | ORPHA:941 | D-glyceric aciduria | | | | 6 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GM2A CL E G H | 2760 | 4367 | ORPHA:309246 | GM2 gangliosidosis, AB variant | | | | 69 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GM2A CL E G H | 2760 | 4367 | OMIM:272750 | Gm2-Gangliosidosis, ab variant | . | | | 69 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GMPPA CL E G H | 29926 | 22923 | OMIM:615510 | Alacrima, achalasia, and mental retardation syndrome | | | | 24 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:588 | Muscle-eye-brain disease | HP:0040282 - Frequent | | | 34 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GMPPB CL E G H | 29925 | 22932 | OMIM:615351 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | . | | | 34 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GNAI1 CL E G H | 2770 | 4384 | OMIM:619854 | | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 36 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GNAO1 CL E G H | 2775 | 4389 | OMIM:617493 | Neurodevelopmental disorder with involuntary movements | | | | 36 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GNB1 CL E G H | 2782 | 4396 | ORPHA:488613 | Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome | | | | 12 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GOT2 CL E G H | 2806 | 4433 | OMIM:618721 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GPAA1 CL E G H | 8733 | 4446 | OMIM:617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GPAA1 CL E G H | 8733 | 4446 | ORPHA:529665 | Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GPHN CL E G H | 10243 | 15465 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040281 - Very frequent | | | 18 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GPHN CL E G H | 10243 | 15465 | OMIM:149400 | Hyperekplexia 1 | . | | | 18 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GPHN CL E G H | 10243 | 15465 | OMIM:615501 | Molybdenum cofactor deficiency, complementation group C | . | | | 18 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GPT2 CL E G H | 84706 | 18062 | OMIM:616281 | Mental retardation, autosomal recessive 49 | | | | 4 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GPT2 CL E G H | 84706 | 18062 | ORPHA:477673 | Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome | | | | 4 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GRIA2 CL E G H | 2891 | 4572 | OMIM:618917 | NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GRIA3 CL E G H | 2892 | 4573 | OMIM:300699 | Mental retardation, X-linked 94 | | | | 30 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GRIA3 CL E G H | 2892 | 4573 | ORPHA:364028 | X-linked intellectual disability due to GRIA3 mutations | | | | 30 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GRIA4 CL E G H | 2893 | 4574 | OMIM:617864 | Neurodevelopmental disorder with or without seizures and gait abnormalities | . | HP:0003623 - Neonatal onset | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GRIK2 CL E G H | 2898 | 4580 | OMIM:619580 | NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS | | | | 32 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:208447 | Bilateral generalized polymicrogyria | | | | 108 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GRIN1 CL E G H | 2902 | 4584 | OMIM:619814 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101 | | | | 108 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 108 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GRIN1 CL E G H | 2902 | 4584 | OMIM:614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | | | | 108 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GRIN1 CL E G H | 2902 | 4584 | OMIM:617820 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | | | | 108 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:289266 | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | HP:0040283 - Occasional | | | 434 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GRIN2B CL E G H | 2904 | 4586 | OMIM:616139 | Epileptic encephalopathy, early infantile, 27 | | | | 274 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GRIN2B CL E G H | 2904 | 4586 | OMIM:613970 | Mental retardation, autosomal dominant 6, with or without seizures | | | | 274 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GRIN2D CL E G H | 2906 | 4588 | OMIM:617162 | Epileptic encephalopathy, early infantile, 46 | . | | | 2 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GRIN2D CL E G H | 2906 | 4588 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 2 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GRM1 CL E G H | 2911 | 4593 | OMIM:617691 | SPINOCEREBELLAR ATAXIA 44; SCA44 | | | | 8 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 5 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GSS CL E G H | 2937 | 4624 | OMIM:266130 | Glutathione synthetase deficiency | | | | 39 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GSX2 CL E G H | 170825 | 24959 | OMIM:618646 | DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GTF2H5 CL E G H | 404672 | 21157 | OMIM:616395 | Trichothiodystrophy 3, photosensitive | | | | 3 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GUF1 CL E G H | 60558 | 25799 | OMIM:617065 | Epileptic encephalopathy, early infantile, 40 | | | | 2 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | H1-4 CL E G H | 3008 | 4718 | OMIM:617537 | Rahman syndrome | . | HP:0003623 - Neonatal onset | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HACE1 CL E G H | 57531 | 21033 | OMIM:616756 | Spastic paraplegia and psychomotor retardation with or without seizures | | | | 10 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HACE1 CL E G H | 57531 | 21033 | ORPHA:464282 | Spastic paraplegia-severe developmental delay-epilepsy syndrome | | | | 10 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HCN1 CL E G H | 348980 | 4845 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 54 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HEPACAM CL E G H | 220296 | 26361 | OMIM:604004 | Megalencephalic leukoencephalopathy with subcortical cysts 1 | | | | 82 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HEPACAM CL E G H | 220296 | 26361 | OMIM:613925 | Megalencephalic leukoencephalopathy with subcortical cysts 2A | . | | | 82 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HEXB CL E G H | 3074 | 4879 | OMIM:268800 | Sandhoff disease | | | | 80 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309169 | Sandhoff disease, adult form | | | | 80 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309155 | Sandhoff disease, infantile form | | | | 80 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HID1 CL E G H | 283987 | 15736 | OMIM:619983 | | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HIKESHI CL E G H | 51501 | 26938 | OMIM:616881 | Leukodystrophy, hypomyelinating, 13 | . | | | 3 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:618547 | NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA | | | | 11 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:123400 | Creutzfeldt-Jakob disease | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:126200 | Multiple sclerosis, susceptibility to | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:126200 | Multiple sclerosis, susceptibility to | | | | 2 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HLCS CL E G H | 3141 | 4976 | OMIM:253270 | Holocarboxylase synthetase deficiency | . | | | 148 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | | | | 35 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HMGCL CL E G H | 3155 | 5005 | OMIM:246450 | 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency | | | | 35 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 31 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HNRNPH2 CL E G H | 3188 | 5042 | OMIM:300986 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB | | | | 3 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HPDL CL E G H | 84842 | 28242 | OMIM:619027 | SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83 | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HPRT1 CL E G H | 3251 | 5157 | OMIM:300322 | Lesch-Nyhan syndrome | | | | 76 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HPRT1 CL E G H | 3251 | 5157 | ORPHA:510 | Lesch-Nyhan syndrome | | | | 76 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | | | | 19 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HSD17B10 CL E G H | 3028 | 4800 | OMIM:300438 | HSD10 mitochondrial disease | | | | 19 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:233400 | Perrault syndrome 1 | | | | 98 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HSPD1 CL E G H | 3329 | 5261 | ORPHA:100994 | Autosomal dominant spastic paraplegia type 13 | | | | 46 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HSPD1 CL E G H | 3329 | 5261 | OMIM:612233 | Leukodystrophy, hypomyelinating, 4 | | | | 46 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HSPD1 CL E G H | 3329 | 5261 | OMIM:605280 | Spastic paraplegia 13, autosomal dominant | | | | 46 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040281 - Very frequent | | | 345 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HTRA1 CL E G H | 5654 | 9476 | OMIM:600142 | Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) | | | | 34 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HTRA1 CL E G H | 5654 | 9476 | ORPHA:199354 | Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy | | | | 34 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HTRA2 CL E G H | 27429 | 14348 | OMIM:617248 | 3-methylglutaconic aciduria, type VIII | . | | | 39 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HTRA2 CL E G H | 27429 | 14348 | OMIM:610297 | PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13 | | | | 39 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HTRA2 CL E G H | 27429 | 14348 | ORPHA:2828 | Young-onset Parkinson disease | | | | 39 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HTT CL E G H | 3064 | 4851 | OMIM:143100 | Huntington disease | | | | 12 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | | | | 12 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:248111 | Juvenile Huntington disease | | | | 12 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HTT CL E G H | 3064 | 4851 | OMIM:617435 | Lopes-Maciel-Rodan syndrome | . | | | 12 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | | | | 98 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | IARS1 CL E G H | 3376 | 5330 | ORPHA:541423 | Growth delay-intellectual disability-hepatopathy syndrome | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | IARS1 CL E G H | 3376 | 5330 | OMIM:617093 | Growth retardation, impaired intellectual development, hypotonia, and hepatopathy | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | IBA57 CL E G H | 200205 | 27302 | ORPHA:468661 | Autosomal recessive spastic paraplegia type 74 | | | | 16 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | IBA57 CL E G H | 200205 | 27302 | OMIM:615330 | Multiple mitochondrial dysfunctions syndrome 3 | | | | 16 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | IBA57 CL E G H | 200205 | 27302 | OMIM:616451 | Spastic paraplegia 74, autosomal recessive | | | | 16 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | | | | 115 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93474 | Scheie syndrome | | | | 115 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 28 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | | | | 28 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | | | | 52 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | | | | 52 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | IMPDH2 CL E G H | 3615 | 6053 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | INPP5K CL E G H | 51763 | 33882 | ORPHA:559 | Marinesco-Sjögren syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | INPP5K CL E G H | 51763 | 33882 | OMIM:617404 | Muscular dystrophy, congenital, with cataracts and intellectual disability | | | | 7 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | INTS8 CL E G H | 55656 | 26048 | OMIM:618572 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS | | | | 2 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | IREB2 CL E G H | 3658 | 6115 | OMIM:618451 | Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | IRF2BPL CL E G H | 64207 | 14282 | OMIM:618088 | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | | | | | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ISCA1 CL E G H | 81689 | 28660 | OMIM:617613 | Multiple mitochondrial dysfunctions syndrome 5 | | | | 1 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ISCA2 CL E G H | 122961 | 19857 | OMIM:616370 | Multiple mitochondrial dysfunctions syndrome 4 | | | | 7 | | |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ITM2B CL E G H | 9445 | 6174 | OMIM:176500 | Cerebral amyloid angiopathy, itm2b-related, 1 | . | | | 3 | | |
HP:0001276 | |