Human Phenotype Ontology 
Grandparent Node:
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Abnormal muscle tone (HP:0003808)help
Grandparent Node:
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Upper motor neuron dysfunction (HP:0002493)help
Parent Node:
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Hypertonia (HP:0001276)help
..Starting node
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Spasticity (HP:0001257)help
Term ID: 1257
Name: Spasticity
Synonym: Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity
Definition: A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Comments:
Reference: HP:0001257
Genes and Diseases:
 
       Child Nodes:
........expandSpastic diplegia (HP:0001264) help
........expandSpastic tetraparesis (HP:0001285) help
........expandLower limb spasticity (HP:0002061) help
................... HP:0001258 Spastic paraplegia
................... HP:0002313 Spastic paraparesis
........expandSpastic gait (HP:0002064) help
........expandOpisthotonus (HP:0002179) help
........expandProgressive spasticity (HP:0002191) help
................... HP:0002478 Progressive spastic quadriplegia
........expandSpastic dysarthria (HP:0002464) help
........expandSpasticity of facial muscles (HP:0002491) help
........expandSpasticity of pharyngeal muscles (HP:0002501) help
........expandSpastic tetraplegia (HP:0002510) help
........expandUpper limb spasticity (HP:0006986) help
........expandSpastic hemiparesis (HP:0011099) help
........expandClasp-knife sign (HP:0031866) help

 Sister Nodes: 
..expandLimb hypertonia (HP:0002509) help
..expandNeck hypertonia (HP:0031867) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001257HP:0001257Spasticity0AARS1 CL E G H1620OMIM:616339Epileptic encephalopathy, early infantile, 29.
HP:0001257HP:0001257Spasticity0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001257HP:0001257Spasticity0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0001257HP:0001257Spasticity0AARS2 CL E G H5750521022OMIM:615889Leukoencephalopathy, progressive, with ovarian failure.143
HP:0001257HP:0001257Spasticity0AASS CL E G H1015717366ORPHA:2203Hyperlysinemia15
HP:0001257HP:0001257Spasticity0AASS CL E G H1015717366ORPHA:3124Saccharopinuria15
HP:0001257HP:0001257Spasticity0ABCC8 CL E G H683359OMIM:240800Hypoglycemia of infancy, leucine-sensitive.245
HP:0001257HP:0001257Spasticity0ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy135
HP:0001257HP:0001257Spasticity0ABCD1 CL E G H21561ORPHA:139399AdrenomyeloneuropathyHP:0040282 - Frequent135
HP:0001257HP:0001257Spasticity0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophy135
HP:0001257HP:0001257Spasticity0ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.50
HP:0001257HP:0001257Spasticity0ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0001257HP:0001257Spasticity0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiencyHP:0040283 - Occasional91
HP:0001257HP:0001257Spasticity0ACER3 CL E G H5533116066OMIM:617762Leukodystrophy, progressive, early childhood-onset.
HP:0001257HP:0001257Spasticity0ACP5 CL E G H54124ORPHA:1855SpondyloenchondrodysplasiaHP:0040282 - Frequent16
HP:0001257HP:0001257Spasticity0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0001257HP:0001257Spasticity0ACTL6B CL E G H51412160OMIM:618468DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE762
HP:0001257HP:0001257Spasticity0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0001257HP:0001257Spasticity0ADAM22 CL E G H53616201OMIM:617933Epileptic encephalopathy, early infantile, 61.
HP:0001257HP:0001257Spasticity0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent116
HP:0001257HP:0001257Spasticity0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent116
HP:0001257HP:0001257Spasticity0ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0001257HP:0001257Spasticity0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040282 - Frequent9
HP:0001257HP:0001257Spasticity0ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 36HP:0040284 - Very rare9
HP:0001257HP:0001257Spasticity0ADD3 CL E G H120245OMIM:617008Cerebral palsy, spastic quadriplegic, 33
HP:0001257HP:0001257Spasticity0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040282 - Frequent88
HP:0001257HP:0001257Spasticity0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0001257HP:0001257Spasticity0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0001257HP:0001257Spasticity0AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndromeHP:0040282 - Frequent86
HP:0001257HP:0001257Spasticity0AFG3L2 CL E G H10939315OMIM:614487Spastic ataxia 5, autosomal recessive.86
HP:0001257HP:0001257Spasticity0AFG3L2 CL E G H10939315OMIM:610246Spinocerebellar ataxia 28.86
HP:0001257HP:0001257Spasticity0AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 28HP:0040284 - Very rare86
HP:0001257HP:0001257Spasticity0AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA.76
HP:0001257HP:0001257Spasticity0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophyHP:0040284 - Very rare1
HP:0001257HP:0001257Spasticity0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0001257HP:0001257Spasticity0AIFM1 CL E G H91318768ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome60
HP:0001257HP:0001257Spasticity0AIMP1 CL E G H925510648OMIM:260600Leukodystrophy, hypomyelinating, 34
HP:0001257HP:0001257Spasticity0ALDH18A1 CL E G H58329722ORPHA:447753Autosomal dominant spastic paraplegia type 9A89
HP:0001257HP:0001257Spasticity0ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9B89
HP:0001257HP:0001257Spasticity0ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9BHP:0040281 - Very frequent89
HP:0001257HP:0001257Spasticity0ALDH18A1 CL E G H58329722OMIM:601162Spastic paraplegia 9A, autosomal dominant89
HP:0001257HP:0001257Spasticity0ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessive.89
HP:0001257HP:0001257Spasticity0ALDH3A2 CL E G H224403ORPHA:816Sjögren-Larsson syndromeHP:0040281 - Very frequent87
HP:0001257HP:0001257Spasticity0ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome.87
HP:0001257HP:0001257Spasticity0ALG11 CL E G H44013832456ORPHA:280071ALG11-CDG41
HP:0001257HP:0001257Spasticity0ALG11 CL E G H44013832456OMIM:613661Congenital disorder of glycosylation, type Ip41
HP:0001257HP:0001257Spasticity0ALG3 CL E G H1019523056ORPHA:79321ALG3-CDG37
HP:0001257HP:0001257Spasticity0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0001257HP:0001257Spasticity0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0001257HP:0001257Spasticity0ALS2 CL E G H57679443ORPHA:293168Infantile-onset ascending hereditary spastic paralysisHP:0040281 - Very frequent114
HP:0001257HP:0001257Spasticity0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0001257HP:0001257Spasticity0ALS2 CL E G H57679443ORPHA:247604Juvenile primary lateral sclerosisHP:0040281 - Very frequent114
HP:0001257HP:0001257Spasticity0ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile114
HP:0001257HP:0001257Spasticity0ALS2 CL E G H57679443OMIM:607225Spastic paralysis, infantile-onset ascending114
HP:0001257HP:0001257Spasticity0AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiency.44
HP:0001257HP:0001257Spasticity0AMPD2 CL E G H271469ORPHA:401805Autosomal recessive spastic paraplegia type 63HP:0040282 - Frequent21
HP:0001257HP:0001257Spasticity0AMPD2 CL E G H271469OMIM:615809Pontocerebellar hypoplasia, type 9.21
HP:0001257HP:0001257Spasticity0AMPD2 CL E G H271469OMIM:615686Spastic paraplegia 63, autosomal recessive21
HP:0001257HP:0001257Spasticity0ANG CL E G H283483ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent32
HP:0001257HP:0001257Spasticity0ANG CL E G H283483OMIM:611895Amyotrophic lateral sclerosis 932
HP:0001257HP:0001257Spasticity0ANK3 CL E G H288494ORPHA:356996ANK3-related intellectual disability-sleep disturbance syndromeHP:0040282 - Frequent176
HP:0001257HP:0001257Spasticity0ANK3 CL E G H288494OMIM:615493Mental retardation, autosomal recessive 37.176
HP:0001257HP:0001257Spasticity0ANKLE2 CL E G H2314129101OMIM:616681Microcephaly 16, primary, autosomal recessive3
HP:0001257HP:0001257Spasticity0ANXA11 CL E G H311535ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0001257HP:0001257Spasticity0AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0001257HP:0001257Spasticity0AP1G1 CL E G H164555OMIM:619548USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0001257HP:0001257Spasticity0AP1S2 CL E G H8905560ORPHA:85335Fried syndrome13
HP:0001257HP:0001257Spasticity0AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome.13
HP:0001257HP:0001257Spasticity0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional7
HP:0001257HP:0001257Spasticity0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent49
HP:0001257HP:0001257Spasticity0AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessive.49
HP:0001257HP:0001257Spasticity0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent48
HP:0001257HP:0001257Spasticity0AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive48
HP:0001257HP:0001257Spasticity0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent41
HP:0001257HP:0001257Spasticity0AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive41
HP:0001257HP:0001257Spasticity0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent18
HP:0001257HP:0001257Spasticity0AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive.18
HP:0001257HP:0001257Spasticity0AP5Z1 CL E G H990722197ORPHA:306511Autosomal recessive spastic paraplegia type 48165
HP:0001257HP:0001257Spasticity0AP5Z1 CL E G H990722197OMIM:613647Spastic paraplegia 48, autosomal recessive165
HP:0001257HP:0001257Spasticity0APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletion3179
HP:0001257HP:0001257Spasticity0APC2 CL E G H1029724036OMIM:618677CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM101
HP:0001257HP:0001257Spasticity0APOE CL E G H348613OMIM:607822Alzheimer disease 339
HP:0001257HP:0001257Spasticity0ARF1 CL E G H375652OMIM:618185Periventricular nodular heterotopia 8.
HP:0001257HP:0001257Spasticity0ARG1 CL E G H383663ORPHA:90Argininemia31
HP:0001257HP:0001257Spasticity0ARG1 CL E G H383663OMIM:207800Argininemia31
HP:0001257HP:0001257Spasticity0ARL6IP1 CL E G H23204697ORPHA:401780Autosomal recessive spastic paraplegia type 61HP:0040282 - Frequent1
HP:0001257HP:0001257Spasticity0ARL6IP1 CL E G H23204697OMIM:615685Spastic paraplegia 61, autosomal recessive.1
HP:0001257HP:0001257Spasticity0ARNT2 CL E G H991516876OMIM:615926Webb-Dattani syndrome.
HP:0001257HP:0001257Spasticity0ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy253
HP:0001257HP:0001257Spasticity0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional253
HP:0001257HP:0001257Spasticity0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040283 - Occasional253
HP:0001257HP:0001257Spasticity0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040283 - Occasional253
HP:0001257HP:0001257Spasticity0ARSI CL E G H34007532521ORPHA:401815Autosomal recessive spastic paraplegia type 661
HP:0001257HP:0001257Spasticity0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0001257HP:0001257Spasticity0ARX CL E G H17030218060ORPHA:2508Corpus callosum agenesis-abnormal genitalia syndromeHP:0040281 - Very frequent166
HP:0001257HP:0001257Spasticity0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia166
HP:0001257HP:0001257Spasticity0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0001257HP:0001257Spasticity0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0001257HP:0001257Spasticity0ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2.166
HP:0001257HP:0001257Spasticity0ARX CL E G H17030218060ORPHA:94083Partington syndrome166
HP:0001257HP:0001257Spasticity0ARX CL E G H17030218060OMIM:309510Partington syndrome166
HP:0001257HP:0001257Spasticity0ARX CL E G H17030218060ORPHA:452X-linked lissencephaly with abnormal genitaliaHP:0040283 - Occasional166
HP:0001257HP:0001257Spasticity0ARX CL E G H17030218060ORPHA:3175X-linked spasticity-intellectual disability-epilepsy syndromeHP:0040281 - Very frequent166
HP:0001257HP:0001257Spasticity0ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040283 - Occasional78
HP:0001257HP:0001257Spasticity0ASNS CL E G H440753OMIM:615574Asparagine synthetase deficiency17
HP:0001257HP:0001257Spasticity0ASPA CL E G H443756OMIM:271900Canavan disease48
HP:0001257HP:0001257Spasticity0ASPA CL E G H443756ORPHA:314911Severe Canavan diseaseHP:0040283 - Occasional48
HP:0001257HP:0001257Spasticity0ATAD1 CL E G H8489625903ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent
HP:0001257HP:0001257Spasticity0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome.5
HP:0001257HP:0001257Spasticity0ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndromeHP:0040282 - Frequent5
HP:0001257HP:0001257Spasticity0ATAD3A CL E G H5521025567OMIM:618810PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL5
HP:0001257HP:0001257Spasticity0ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 371
HP:0001257HP:0001257Spasticity0ATL1 CL E G H5106211231OMIM:182600Spastic paraplegia 3, autosomal dominant71
HP:0001257HP:0001257Spasticity0ATM CL E G H472795ORPHA:100Ataxia-telangiectasiaHP:0040282 - Frequent3267
HP:0001257HP:0001257Spasticity0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0001257HP:0001257Spasticity0ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78100
HP:0001257HP:0001257Spasticity0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome.100
HP:0001257HP:0001257Spasticity0ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0001257HP:0001257Spasticity0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional239
HP:0001257HP:0001257Spasticity0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional150
HP:0001257HP:0001257Spasticity0ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxia19
HP:0001257HP:0001257Spasticity0ATP5MC3 CL E G H518843OMIM:619681DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0001257HP:0001257Spasticity0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent
HP:0001257HP:0001257Spasticity0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001257HP:0001257Spasticity0ATP6 CL E G H45087414ORPHA:320360MT-ATP6-related mitochondrial spastic paraplegia
HP:0001257HP:0001257Spasticity0ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0001257HP:0001257Spasticity0ATP6AP2 CL E G H1015918305OMIM:300911Parkinsonism with spasticity, X-linkedHP:0040283 - Occasional36
HP:0001257HP:0001257Spasticity0ATP6AP2 CL E G H1015918305ORPHA:363654X-linked parkinsonism-spasticity syndromeHP:0040282 - Frequent36
HP:0001257HP:0001257Spasticity0ATP6V0A1 CL E G H535865OMIM:6199711
HP:0001257HP:0001257Spasticity0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040282 - Frequent140
HP:0001257HP:0001257Spasticity0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040282 - Frequent3
HP:0001257HP:0001257Spasticity0ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 33
HP:0001257HP:0001257Spasticity0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0001257HP:0001257Spasticity0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040282 - Frequent2
HP:0001257HP:0001257Spasticity0ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040281 - Very frequent192
HP:0001257HP:0001257Spasticity0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndrome169
HP:0001257HP:0001257Spasticity0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0001257HP:0001257Spasticity0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 1.19
HP:0001257HP:0001257Spasticity0ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 109
HP:0001257HP:0001257Spasticity0ATXN2 CL E G H631110555ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent11
HP:0001257HP:0001257Spasticity0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0001257HP:0001257Spasticity0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease14
HP:0001257HP:0001257Spasticity0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 1HP:0040282 - Frequent14
HP:0001257HP:0001257Spasticity0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 2HP:0040282 - Frequent14
HP:0001257HP:0001257Spasticity0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040282 - Frequent14
HP:0001257HP:0001257Spasticity0ATXN7 CL E G H631410560OMIM:164500Spinocerebellar 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:0001257HP:0001257Spasticity0ATXN8 CL E G H72406632925OMIM:608768Spinocerebellar ataxia 8.1
HP:0001257HP:0001257Spasticity0ATXN8 CL E G H72406632925ORPHA:98760Spinocerebellar ataxia type 8HP:0040282 - Frequent1
HP:0001257HP:0001257Spasticity0ATXN8OS CL E G H631510561OMIM:608768Spinocerebellar ataxia 8.1
HP:0001257HP:0001257Spasticity0ATXN8OS CL E G H631510561ORPHA:98760Spinocerebellar ataxia type 8HP:0040282 - Frequent1
HP:0001257HP:0001257Spasticity0AUH CL E G H549890ORPHA:670463-methylglutaconic aciduria type 149
HP:0001257HP:0001257Spasticity0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I49
HP:0001257HP:0001257Spasticity0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040283 - Occasional61
HP:0001257HP:0001257Spasticity0B4GALNT1 CL E G H25834117ORPHA:101006Autosomal recessive spastic paraplegia type 2625
HP:0001257HP:0001257Spasticity0B4GALNT1 CL E G H25834117OMIM:609195Spastic paraplegia 26, autosomal recessive25
HP:0001257HP:0001257Spasticity0B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13.17
HP:0001257HP:0001257Spasticity0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001257HP:0001257Spasticity0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0001257HP:0001257Spasticity0BCL11B CL E G H6491913222OMIM:617237Immunodeficiency 493
HP:0001257HP:0001257Spasticity0BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES.3
HP:0001257HP:0001257Spasticity0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001257HP:0001257Spasticity0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0001257HP:0001257Spasticity0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0001257HP:0001257Spasticity0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 1.72
HP:0001257HP:0001257Spasticity0BEAN1 CL E G H14622724160ORPHA:217012Spinocerebellar ataxia type 31HP:0040283 - Occasional1
HP:0001257HP:0001257Spasticity0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominantHP:0040283 - Occasional46
HP:0001257HP:0001257Spasticity0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia.14
HP:0001257HP:0001257Spasticity0BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17105
HP:0001257HP:0001257Spasticity0BSCL2 CL E G H2658015832OMIM:615924Encephalopathy, progressive, with or without lipodystrophy.105
HP:0001257HP:0001257Spasticity0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040282 - Frequent105
HP:0001257HP:0001257Spasticity0BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0001257HP:0001257Spasticity0BTD CL E G H6861122ORPHA:79241Biotinidase deficiency223
HP:0001257HP:0001257Spasticity0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001257HP:0001257Spasticity0C19ORF12 CL E G H8363625443ORPHA:320370Autosomal recessive spastic paraplegia type 43HP:0040282 - Frequent114
HP:0001257HP:0001257Spasticity0C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegenerationHP:0040281 - Very frequent114
HP:0001257HP:0001257Spasticity0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.114
HP:0001257HP:0001257Spasticity0C19ORF12 CL E G H8363625443OMIM:615043Spastic paraplegia 43, autosomal recessive.114
HP:0001257HP:0001257Spasticity0C2ORF69 CL E G H20532726799OMIM:619423COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001257HP:0001257Spasticity0C9ORF72 CL E G H20322828337ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent56
HP:0001257HP:0001257Spasticity0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional449
HP:0001257HP:0001257Spasticity0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0001257HP:0001257Spasticity0CACNA1C CL E G H7751390OMIM:620029572
HP:0001257HP:0001257Spasticity0CACNA1D CL E G H7761391OMIM:615474Primary aldosteronism, seizures, and neurologic abnormalities51
HP:0001257HP:0001257Spasticity0CACNA1D CL E G H7761391ORPHA:369929Primary hyperaldosteronism-seizures-neurological abnormalities syndrome51
HP:0001257HP:0001257Spasticity0CACNA1E CL E G H7771392OMIM:618285Developmental and epileptic encephalopathy 6911
HP:0001257HP:0001257Spasticity0CACNA1G CL E G H89131394OMIM:616795Spinocerebellar ataxia 4232
HP:0001257HP:0001257Spasticity0CACNA1G CL E G H89131394OMIM:618087Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits.32
HP:0001257HP:0001257Spasticity0CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 4232
HP:0001257HP:0001257Spasticity0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional59
HP:0001257HP:0001257Spasticity0CAMK2A CL E G H8151460OMIM:618095Mental retardation, autosomal recessive 63.1
HP:0001257HP:0001257Spasticity0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0001257HP:0001257Spasticity0CAPN1 CL E G H8231476ORPHA:488594Autosomal recessive spastic paraplegia type 764
HP:0001257HP:0001257Spasticity0CAPN1 CL E G H8231476OMIM:616907SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG764
HP:0001257HP:0001257Spasticity0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001257HP:0001257Spasticity0CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 2735
HP:0001257HP:0001257Spasticity0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional118
HP:0001257HP:0001257Spasticity0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0001257HP:0001257Spasticity0CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm typeHP:0040283 - Occasional118
HP:0001257HP:0001257Spasticity0CCDC88C CL E G H44019319967OMIM:616053Spinocerebellar ataxia 4054
HP:0001257HP:0001257Spasticity0CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 4054
HP:0001257HP:0001257Spasticity0CCNF CL E G H8991591ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0001257HP:0001257Spasticity0CCT5 CL E G H229481618ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegiaHP:0040281 - Very frequent56
HP:0001257HP:0001257Spasticity0CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive56
HP:0001257HP:0001257Spasticity0CDC40 CL E G H5136217350OMIM:619302PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001257HP:0001257Spasticity0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001257HP:0001257Spasticity0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent405
HP:0001257HP:0001257Spasticity0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional405
HP:0001257HP:0001257Spasticity0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0001257HP:0001257Spasticity0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional200
HP:0001257HP:0001257Spasticity0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0001257HP:0001257Spasticity0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0001257HP:0001257Spasticity0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001257HP:0001257Spasticity0CEP85L CL E G H38711921638ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome1
HP:0001257HP:0001257Spasticity0CFAP410 CL E G H7551260ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0001257HP:0001257Spasticity0CHCHD10 CL E G H40091615559ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent11
HP:0001257HP:0001257Spasticity0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 8.19
HP:0001257HP:0001257Spasticity0CHMP2B CL E G H2597824537ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent42
HP:0001257HP:0001257Spasticity0CHP1 CL E G H1126117433OMIM:618438Spastic ataxia 9, autosomal recessive.
HP:0001257HP:0001257Spasticity0CIT CL E G H111131985OMIM:617090Microcephaly 17, primary, autosomal recessive.15
HP:0001257HP:0001257Spasticity0CKAP2L CL E G H15046826877ORPHA:3255Filippi syndromeHP:0040282 - Frequent7
HP:0001257HP:0001257Spasticity0CLCN3 CL E G H11822021OMIM:619517NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA2
HP:0001257HP:0001257Spasticity0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndrome45
HP:0001257HP:0001257Spasticity0CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndrome45
HP:0001257HP:0001257Spasticity0CLIC2 CL E G H11932063OMIM:300886MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS324
HP:0001257HP:0001257Spasticity0CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome4
HP:0001257HP:0001257Spasticity0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001257HP:0001257Spasticity0CLN5 CL E G H12032076ORPHA:228360CLN5 diseaseHP:0040282 - Frequent141
HP:0001257HP:0001257Spasticity0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish type111
HP:0001257HP:0001257Spasticity0CLP1 CL E G H1097816999ORPHA:411493Pontocerebellar hypoplasia type 10HP:0040282 - Frequent7
HP:0001257HP:0001257Spasticity0CLP1 CL E G H1097816999OMIM:615803Pontocerebellar hypoplasia, type 10.7
HP:0001257HP:0001257Spasticity0CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 7HP:0040282 - Frequent38
HP:0001257HP:0001257Spasticity0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia.38
HP:0001257HP:0001257Spasticity0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 56.1
HP:0001257HP:0001257Spasticity0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0001257HP:0001257Spasticity0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional18
HP:0001257HP:0001257Spasticity0CNOT1 CL E G H230197877OMIM:618500Holoprosencephaly 12 with or without pancreatic agenesisHP:0040284 - Very rare2
HP:0001257HP:0001257Spasticity0CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0001257HP:0001257Spasticity0CNPY3 CL E G H1069511968OMIM:617929Epileptic encephalopathy, early infantile, 60
HP:0001257HP:0001257Spasticity0CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 3.9
HP:0001257HP:0001257Spasticity0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0001257HP:0001257Spasticity0CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1.518
HP:0001257HP:0001257Spasticity0COA8 CL E G H8433420492OMIM:619061MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0001257HP:0001257Spasticity0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0001257HP:0001257Spasticity0COASY CL E G H8034729932ORPHA:397725COASY protein-associated neurodegeneration16
HP:0001257HP:0001257Spasticity0COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 616
HP:0001257HP:0001257Spasticity0COG2 CL E G H227966546ORPHA:435934COG2-CDG2
HP:0001257HP:0001257Spasticity0COG2 CL E G H227966546OMIM:617395Congenital disorder of glycosylation, type IIq2
HP:0001257HP:0001257Spasticity0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies.193
HP:0001257HP:0001257Spasticity0COL4A2 CL E G H12842203OMIM:614483PORENCEPHALY 2; POREN2147
HP:0001257HP:0001257Spasticity0COLGALT1 CL E G H7970926182OMIM:618360Brain small vessel disease 3
HP:0001257HP:0001257Spasticity0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0001257HP:0001257Spasticity0COPB2 CL E G H92762232OMIM:619884
HP:0001257HP:0001257Spasticity0COPB2 CL E G H92762232OMIM:617800Microcephaly 19, primary, autosomal recessive.
HP:0001257HP:0001257Spasticity0COQ5 CL E G H8427428722OMIM:619028COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0001257HP:0001257Spasticity0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent104
HP:0001257HP:0001257Spasticity0COX8A CL E G H13512294OMIM:619059MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN151
HP:0001257HP:0001257Spasticity0CPSF3 CL E G H516922326OMIM:619876
HP:0001257HP:0001257Spasticity0CPT1C CL E G H12612918540ORPHA:444099Autosomal dominant spastic paraplegia type 731
HP:0001257HP:0001257Spasticity0CPT1C CL E G H12612918540OMIM:616282Spastic paraplegia 73, autosomal dominant1
HP:0001257HP:0001257Spasticity0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 124
HP:0001257HP:0001257Spasticity0CSF1R CL E G H14362433OMIM:618476Brain abnormalities, neurodegeneration, and dysosteosclerosis.149
HP:0001257HP:0001257Spasticity0CSF1R CL E G H14362433OMIM:221820Leukoencephalopathy, diffuse hereditary, with spheroids.149
HP:0001257HP:0001257Spasticity0CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts.160
HP:0001257HP:0001257Spasticity0CTNNA2 CL E G H14962510OMIM:618174Cortical dysplasia, complex, with other brain malformations 92
HP:0001257HP:0001257Spasticity0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects88
HP:0001257HP:0001257Spasticity0CTNNB1 CL E G H14992514ORPHA:404473Severe intellectual disability-progressive spastic diplegia syndromeHP:0040281 - Very frequent88
HP:0001257HP:0001257Spasticity0CTSD CL E G H15092529OMIM:610127Ceroid lipofuscinosis, neuronal, 10.159
HP:0001257HP:0001257Spasticity0CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional2
HP:0001257HP:0001257Spasticity0CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional24
HP:0001257HP:0001257Spasticity0CYB5R3 CL E G H17272873OMIM:250800Methemoglobinemia due to deficiency of methemoglobin reductase24
HP:0001257HP:0001257Spasticity0CYFIP2 CL E G H2699913760OMIM:618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE651
HP:0001257HP:0001257Spasticity0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0001257HP:0001257Spasticity0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis.114
HP:0001257HP:0001257Spasticity0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040282 - Frequent114
HP:0001257HP:0001257Spasticity0CYP2U1 CL E G H11361220582ORPHA:320411Autosomal recessive spastic paraplegia type 5618
HP:0001257HP:0001257Spasticity0CYP2U1 CL E G H11361220582OMIM:615030Spastic paraplegia 56, autosomal recessive18
HP:0001257HP:0001257Spasticity0CYP7B1 CL E G H94202652ORPHA:100986Autosomal recessive spastic paraplegia type 5A57
HP:0001257HP:0001257Spasticity0CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessive57
HP:0001257HP:0001257Spasticity0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001257HP:0001257Spasticity0DAO CL E G H16102671ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0001257HP:0001257Spasticity0DARS1 CL E G H16152678OMIM:615281HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0001257HP:0001257Spasticity0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome60
HP:0001257HP:0001257Spasticity0DARS2 CL E G H5515725538OMIM:611105Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation.60
HP:0001257HP:0001257Spasticity0DCTN1 CL E G H16392711ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent86
HP:0001257HP:0001257Spasticity0DCTN1 CL E G H16392711OMIM:105400Amyotrophic lateral sclerosis 1.86
HP:0001257HP:0001257Spasticity0DCX CL E G H16412714OMIM:300067Lissencephaly, X-linked, 1.145
HP:0001257HP:0001257Spasticity0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional30
HP:0001257HP:0001257Spasticity0DDHD1 CL E G H8082119714ORPHA:101008Autosomal recessive spastic paraplegia type 2835
HP:0001257HP:0001257Spasticity0DDHD1 CL E G H8082119714OMIM:609340Spastic paraplegia 28, autosomal recessive35
HP:0001257HP:0001257Spasticity0DDHD2 CL E G H2325929106ORPHA:320380Autosomal recessive spastic paraplegia type 5429
HP:0001257HP:0001257Spasticity0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive29
HP:0001257HP:0001257Spasticity0DDX3X CL E G H16542745OMIM:300958MENTAL RETARDATION, X-LINKED 102; MRX10257
HP:0001257HP:0001257Spasticity0DDX3X CL E G H16542745ORPHA:457260X-linked intellectual disability-hypotonia-movement disorder syndromeHP:0040282 - Frequent57
HP:0001257HP:0001257Spasticity0DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18
HP:0001257HP:0001257Spasticity0DENND5A CL E G H2325819344OMIM:617281Epileptic encephalopathy, early infantile, 49.6
HP:0001257HP:0001257Spasticity0DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS.72
HP:0001257HP:0001257Spasticity0DHCR24 CL E G H17182859ORPHA:35107DesmosterolosisHP:0040281 - Very frequent72
HP:0001257HP:0001257Spasticity0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional47
HP:0001257HP:0001257Spasticity0DHDDS CL E G H7994720603OMIM:613861Retinitis pigmentosa 59.47
HP:0001257HP:0001257Spasticity0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment.
HP:0001257HP:0001257Spasticity0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent22
HP:0001257HP:0001257Spasticity0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional22
HP:0001257HP:0001257Spasticity0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent22
HP:0001257HP:0001257Spasticity0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent22
HP:0001257HP:0001257Spasticity0DLD CL E G H17382898ORPHA:2394Pyruvate dehydrogenase E3 deficiencyHP:0040282 - Frequent89
HP:0001257HP:0001257Spasticity0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent3
HP:0001257HP:0001257Spasticity0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional3
HP:0001257HP:0001257Spasticity0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent3
HP:0001257HP:0001257Spasticity0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent3
HP:0001257HP:0001257Spasticity0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0001257HP:0001257Spasticity0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxia25
HP:0001257HP:0001257Spasticity0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001257HP:0001257Spasticity0DNAJC6 CL E G H982915469OMIM:615528Parkinson disease 19a, juvenile-onset.6
HP:0001257HP:0001257Spasticity0DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional6
HP:0001257HP:0001257Spasticity0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional72
HP:0001257HP:0001257Spasticity0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare94
HP:0001257HP:0001257Spasticity0DNMT1 CL E G H17862976ORPHA:314404Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndromeHP:0040283 - Occasional145
HP:0001257HP:0001257Spasticity0DNMT1 CL E G H17862976OMIM:604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant.145
HP:0001257HP:0001257Spasticity0DPH5 CL E G H5161124270OMIM:620070
HP:0001257HP:0001257Spasticity0DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040283 - Occasional27
HP:0001257HP:0001257Spasticity0DSTYK CL E G H2577829043ORPHA:101003Autosomal recessive spastic paraplegia type 2313
HP:0001257HP:0001257Spasticity0DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 2313
HP:0001257HP:0001257Spasticity0DTYMK CL E G H18413061OMIM:619847
HP:0001257HP:0001257Spasticity0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen disease65
HP:0001257HP:0001257Spasticity0DYNC1H1 CL E G H17782961OMIM:614563Mental retardation, autosomal dominant 13427
HP:0001257HP:0001257Spasticity0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies.1
HP:0001257HP:0001257Spasticity0EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 1280
HP:0001257HP:0001257Spasticity0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent33
HP:0001257HP:0001257Spasticity0ECHS1 CL E G H18923151OMIM:616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency.33
HP:0001257HP:0001257Spasticity0EDNRB CL E G H19103180OMIM:277580Waardenburg-Shah syndrome55
HP:0001257HP:0001257Spasticity0EED CL E G H87263188ORPHA:3447Weaver syndromeHP:0040281 - Very frequent4
HP:0001257HP:0001257Spasticity0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional60
HP:0001257HP:0001257Spasticity0EIF2AK1 CL E G H2710224921OMIM:618878LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0001257HP:0001257Spasticity0EIF2AK2 CL E G H56109437OMIM:619687DYSTONIA 33; DYT33
HP:0001257HP:0001257Spasticity0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0001257HP:0001257Spasticity0EIF2B1 CL E G H19673257OMIM:603896Leukoencephalopathy with vanishing white matter.42
HP:0001257HP:0001257Spasticity0EIF2B2 CL E G H88923258OMIM:603896Leukoencephalopathy with vanishing white matter.24
HP:0001257HP:0001257Spasticity0EIF2B3 CL E G H88913259OMIM:603896Leukoencephalopathy with vanishing white matter.32
HP:0001257HP:0001257Spasticity0EIF2B4 CL E G H88903260OMIM:603896Leukoencephalopathy with vanishing white matter.38
HP:0001257HP:0001257Spasticity0EIF2B5 CL E G H88933261OMIM:603896Leukoencephalopathy with vanishing white matter.48
HP:0001257HP:0001257Spasticity0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome8
HP:0001257HP:0001257Spasticity0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001257HP:0001257Spasticity0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0001257HP:0001257Spasticity0ELOVL1 CL E G H6483414418OMIM:618527Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0001257HP:0001257Spasticity0ELOVL4 CL E G H678514415OMIM:614457Ichthyosis, spastic quadriplegia, and mental retardation62
HP:0001257HP:0001257Spasticity0ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 34HP:0040283 - Occasional62
HP:0001257HP:0001257Spasticity0ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 586
HP:0001257HP:0001257Spasticity0EML1 CL E G H20093330OMIM:600348Band heterotopia.3
HP:0001257HP:0001257Spasticity0ENTPD1 CL E G H9533363ORPHA:401810Autosomal recessive spastic paraplegia type 64HP:0040282 - Frequent3
HP:0001257HP:0001257Spasticity0ENTPD1 CL E G H9533363OMIM:615683Spastic paraplegia 64, autosomal recessive3
HP:0001257HP:0001257Spasticity0EPHA4 CL E G H20433388ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent4
HP:0001257HP:0001257Spasticity0EPM2A CL E G H79573413ORPHA:501Lafora diseaseHP:0040282 - Frequent83
HP:0001257HP:0001257Spasticity0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15.
HP:0001257HP:0001257Spasticity0ERBB4 CL E G H20663432ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent15
HP:0001257HP:0001257Spasticity0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 220
HP:0001257HP:0001257Spasticity0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0001257HP:0001257Spasticity0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional106
HP:0001257HP:0001257Spasticity0ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D.106
HP:0001257HP:0001257Spasticity0ERCC2 CL E G H20683434ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent106
HP:0001257HP:0001257Spasticity0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0001257HP:0001257Spasticity0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional54
HP:0001257HP:0001257Spasticity0ERCC3 CL E G H20713435ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent54
HP:0001257HP:0001257Spasticity0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:0001257HP:0001257Spasticity0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional158
HP:0001257HP:0001257Spasticity0ERCC4 CL E G H20723436ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent158
HP:0001257HP:0001257Spasticity0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional83
HP:0001257HP:0001257Spasticity0ERCC5 CL E G H20733437OMIM:278780Xeroderma pigmentosum, complementation group GHP:0040283 - Occasional83
HP:0001257HP:0001257Spasticity0ERCC5 CL E G H20733437ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent83
HP:0001257HP:0001257Spasticity0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:0001257HP:0001257Spasticity0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2199
HP:0001257HP:0001257Spasticity0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome.199
HP:0001257HP:0001257Spasticity0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:0001257HP:0001257Spasticity0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 255
HP:0001257HP:0001257Spasticity0ERLIN1 CL E G H1061316947ORPHA:401785Autosomal recessive spastic paraplegia type 622
HP:0001257HP:0001257Spasticity0ERLIN1 CL E G H1061316947OMIM:615681Spastic paraplegia 62, autosomal recessive2
HP:0001257HP:0001257Spasticity0ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 18HP:0040282 - Frequent18
HP:0001257HP:0001257Spasticity0ERLIN2 CL E G H111601356ORPHA:247604Juvenile primary lateral sclerosisHP:0040281 - Very frequent18
HP:0001257HP:0001257Spasticity0ERLIN2 CL E G H111601356OMIM:611225Spastic paraplegia 18, autosomal recessive18
HP:0001257HP:0001257Spasticity0EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0001257HP:0001257Spasticity0EXOC8 CL E G H14937124659OMIM:619076NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB1
HP:0001257HP:0001257Spasticity0EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0001257HP:0001257Spasticity0EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B.38
HP:0001257HP:0001257Spasticity0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0001257HP:0001257Spasticity0EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0001257HP:0001257Spasticity0EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C4
HP:0001257HP:0001257Spasticity0EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0001257HP:0001257Spasticity0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D.
HP:0001257HP:0001257Spasticity0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0001257HP:0001257Spasticity0EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0001257HP:0001257Spasticity0EZH2 CL E G H21463527ORPHA:3447Weaver syndromeHP:0040281 - Very frequent81
HP:0001257HP:0001257Spasticity0FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 3576
HP:0001257HP:0001257Spasticity0FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegeneration76
HP:0001257HP:0001257Spasticity0FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessive76
HP:0001257HP:0001257Spasticity0FAR1 CL E G H8418826222ORPHA:447753Autosomal dominant spastic paraplegia type 9A7
HP:0001257HP:0001257Spasticity0FAR1 CL E G H8418826222OMIM:619338CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD7
HP:0001257HP:0001257Spasticity0FAR1 CL E G H8418826222ORPHA:438178Fatty acyl-CoA reductase 1 deficiency7
HP:0001257HP:0001257Spasticity0FAR1 CL E G H8418826222OMIM:616154PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD7
HP:0001257HP:0001257Spasticity0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 7736
HP:0001257HP:0001257Spasticity0FARS2 CL E G H1066721062OMIM:617046Spastic paraplegia 77, autosomal recessive36
HP:0001257HP:0001257Spasticity0FBLN1 CL E G H21923600ORPHA:404451FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome12
HP:0001257HP:0001257Spasticity0FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset36
HP:0001257HP:0001257Spasticity0FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent36
HP:0001257HP:0001257Spasticity0FCSK CL E G H19725829500OMIM:618324Congenital disorder of glycosylation with defective fucosylation 2
HP:0001257HP:0001257Spasticity0FDX2 CL E G H11281230546OMIM:251900Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathyHP:0040284 - Very rare
HP:0001257HP:0001257Spasticity0FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeHP:0040282 - Frequent
HP:0001257HP:0001257Spasticity0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0001257HP:0001257Spasticity0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0001257HP:0001257Spasticity0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent17
HP:0001257HP:0001257Spasticity0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional17
HP:0001257HP:0001257Spasticity0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent17
HP:0001257HP:0001257Spasticity0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent17
HP:0001257HP:0001257Spasticity0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent172
HP:0001257HP:0001257Spasticity0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional172
HP:0001257HP:0001257Spasticity0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent172
HP:0001257HP:0001257Spasticity0FIG4 CL E G H989616873ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent111
HP:0001257HP:0001257Spasticity0FIG4 CL E G H989616873ORPHA:208441Bilateral parasagittal parieto-occipital polymicrogyriaHP:0040283 - Occasional111
HP:0001257HP:0001257Spasticity0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001257HP:0001257Spasticity0FLNA CL E G H23163754OMIM:300048Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked493
HP:0001257HP:0001257Spasticity0FLRT1 CL E G H237693760ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0001257HP:0001257Spasticity0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0001257HP:0001257Spasticity0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent48
HP:0001257HP:0001257Spasticity0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional48
HP:0001257HP:0001257Spasticity0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent48
HP:0001257HP:0001257Spasticity0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent48
HP:0001257HP:0001257Spasticity0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040282 - Frequent184
HP:0001257HP:0001257Spasticity0FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent61
HP:0001257HP:0001257Spasticity0FRMD5 CL E G H8497828214OMIM:620094
HP:0001257HP:0001257Spasticity0FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0001257HP:0001257Spasticity0FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 37.4
HP:0001257HP:0001257Spasticity0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 3.33
HP:0001257HP:0001257Spasticity0FUCA1 CL E G H25174006ORPHA:349FucosidosisHP:0040282 - Frequent43
HP:0001257HP:0001257Spasticity0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS43
HP:0001257HP:0001257Spasticity0FUS CL E G H25214010ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent105
HP:0001257HP:0001257Spasticity0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0001257HP:0001257Spasticity0FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type IIHP:0040283 - Occasional3
HP:0001257HP:0001257Spasticity0FXN CL E G H23953951ORPHA:95Friedreich ataxiaHP:0040283 - Occasional18
HP:0001257HP:0001257Spasticity0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001257HP:0001257Spasticity0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent5
HP:0001257HP:0001257Spasticity0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0001257HP:0001257Spasticity0GABRA2 CL E G H25554076OMIM:618557DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE784
HP:0001257HP:0001257Spasticity0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional4
HP:0001257HP:0001257Spasticity0GABRA5 CL E G H25584079OMIM:618559DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0001257HP:0001257Spasticity0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001257HP:0001257Spasticity0GABRB2 CL E G H25614082OMIM:617829Epileptic encephalopathy, infantile or early childhood, 2.44
HP:0001257HP:0001257Spasticity0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional44
HP:0001257HP:0001257Spasticity0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional139
HP:0001257HP:0001257Spasticity0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0001257HP:0001257Spasticity0GALC CL E G H25814115ORPHA:206448Adult Krabbe diseaseHP:0040282 - Frequent160
HP:0001257HP:0001257Spasticity0GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040281 - Very frequent160
HP:0001257HP:0001257Spasticity0GALC CL E G H25814115OMIM:245200Krabbe disease160
HP:0001257HP:0001257Spasticity0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe disease160
HP:0001257HP:0001257Spasticity0GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 291
HP:0001257HP:0001257Spasticity0GAN CL E G H81394137ORPHA:643Giant axonal neuropathyHP:0040282 - Frequent121
HP:0001257HP:0001257Spasticity0GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive121
HP:0001257HP:0001257Spasticity0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent2
HP:0001257HP:0001257Spasticity0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional2
HP:0001257HP:0001257Spasticity0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent2
HP:0001257HP:0001257Spasticity0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent2
HP:0001257HP:0001257Spasticity0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome33
HP:0001257HP:0001257Spasticity0GBA1 CL E G H26294177ORPHA:77260Gaucher disease type 2HP:0040281 - Very frequent
HP:0001257HP:0001257Spasticity0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal
HP:0001257HP:0001257Spasticity0GBA1 CL E G H26294177OMIM:230900Gaucher disease, type II.
HP:0001257HP:0001257Spasticity0GBA1 CL E G H26294177OMIM:231000Gaucher disease, type III
HP:0001257HP:0001257Spasticity0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0001257HP:0001257Spasticity0GBA2 CL E G H5770418986ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticityHP:0040281 - Very frequent30
HP:0001257HP:0001257Spasticity0GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 4630
HP:0001257HP:0001257Spasticity0GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive30
HP:0001257HP:0001257Spasticity0GBE1 CL E G H26324180ORPHA:206583Adult polyglucosan body diseaseHP:0040281 - Very frequent86
HP:0001257HP:0001257Spasticity0GBE1 CL E G H26324180OMIM:263570Polyglucosan body neuropathy, adult form86
HP:0001257HP:0001257Spasticity0GCDH CL E G H26394189OMIM:231670Glutaric acidemia I115
HP:0001257HP:0001257Spasticity0GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0001257HP:0001257Spasticity0GDAP2 CL E G H5483418010OMIM:618369Spinocerebellar ataxia, autosomal recessive 27.
HP:0001257HP:0001257Spasticity0GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities1
HP:0001257HP:0001257Spasticity0GFAP CL E G H26704235OMIM:203450Alexander disease.188
HP:0001257HP:0001257Spasticity0GFAP CL E G H26704235ORPHA:363717Alexander disease type I188
HP:0001257HP:0001257Spasticity0GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0001257HP:0001257Spasticity0GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 1.85
HP:0001257HP:0001257Spasticity0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 3943
HP:0001257HP:0001257Spasticity0GFM2 CL E G H8434029682OMIM:618397Combined oxidative phosphorylation deficiency 39.43
HP:0001257HP:0001257Spasticity0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040282 - Frequent68
HP:0001257HP:0001257Spasticity0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0001257HP:0001257Spasticity0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxia107
HP:0001257HP:0001257Spasticity0GJC2 CL E G H5716517494ORPHA:320401Autosomal recessive spastic paraplegia type 4437
HP:0001257HP:0001257Spasticity0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0001257HP:0001257Spasticity0GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessive37
HP:0001257HP:0001257Spasticity0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040282 - Frequent120
HP:0001257HP:0001257Spasticity0GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II120
HP:0001257HP:0001257Spasticity0GLE1 CL E G H27334315ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent45
HP:0001257HP:0001257Spasticity0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent173
HP:0001257HP:0001257Spasticity0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional173
HP:0001257HP:0001257Spasticity0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent173
HP:0001257HP:0001257Spasticity0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent173
HP:0001257HP:0001257Spasticity0GLRA1 CL E G H27414326ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent63
HP:0001257HP:0001257Spasticity0GLRB CL E G H27434329ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent46
HP:0001257HP:0001257Spasticity0GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemia17
HP:0001257HP:0001257Spasticity0GLRX5 CL E G H5121820134OMIM:616859Spasticity, childhood-onset, with hyperglycinemia17
HP:0001257HP:0001257Spasticity0GLT8D1 CL E G H5583024870ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0001257HP:0001257Spasticity0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA6
HP:0001257HP:0001257Spasticity0GLYCTK CL E G H13215824247ORPHA:941D-glyceric aciduriaHP:0040282 - Frequent6
HP:0001257HP:0001257Spasticity0GM2A CL E G H27604367ORPHA:309246GM2 gangliosidosis, AB variant69
HP:0001257HP:0001257Spasticity0GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant69
HP:0001257HP:0001257Spasticity0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome24
HP:0001257HP:0001257Spasticity0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional36
HP:0001257HP:0001257Spasticity0GNAO1 CL E G H27754389OMIM:617493Neurodevelopmental disorder with involuntary movements.36
HP:0001257HP:0001257Spasticity0GOT2 CL E G H28064433OMIM:618721DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0001257HP:0001257Spasticity0GPAA1 CL E G H87334446OMIM:617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0001257HP:0001257Spasticity0GPAA1 CL E G H87334446ORPHA:529665Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndromeHP:0040282 - Frequent
HP:0001257HP:0001257Spasticity0GPHN CL E G H1024315465ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent18
HP:0001257HP:0001257Spasticity0GPT2 CL E G H8470618062OMIM:616281Mental retardation, autosomal recessive 49.4
HP:0001257HP:0001257Spasticity0GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome4
HP:0001257HP:0001257Spasticity0GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0001257HP:0001257Spasticity0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0001257HP:0001257Spasticity0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities.
HP:0001257HP:0001257Spasticity0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0001257HP:0001257Spasticity0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040282 - Frequent108
HP:0001257HP:0001257Spasticity0GRIN1 CL E G H29024584OMIM:619814DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101108
HP:0001257HP:0001257Spasticity0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional108
HP:0001257HP:0001257Spasticity0GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant.108
HP:0001257HP:0001257Spasticity0GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive.108
HP:0001257HP:0001257Spasticity0GRIN2B CL E G H29044586OMIM:616139Epileptic encephalopathy, early infantile, 27.274
HP:0001257HP:0001257Spasticity0GRIN2B CL E G H29044586OMIM:613970Mental retardation, autosomal dominant 6, with or without seizures.274
HP:0001257HP:0001257Spasticity0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0001257HP:0001257Spasticity0GRM1 CL E G H29114593OMIM:617691SPINOCEREBELLAR ATAXIA 44; SCA448
HP:0001257HP:0001257Spasticity0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional5
HP:0001257HP:0001257Spasticity0GSS CL E G H29374624OMIM:266130Glutathione synthetase deficiency39
HP:0001257HP:0001257Spasticity0GSX2 CL E G H17082524959OMIM:618646DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0001257HP:0001257Spasticity0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0001257HP:0001257Spasticity0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001257HP:0001257Spasticity0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0001257HP:0001257Spasticity0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0001257HP:0001257Spasticity0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0001257HP:0001257Spasticity0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0001257HP:0001257Spasticity0GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 40.2
HP:0001257HP:0001257Spasticity0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0001257HP:0001257Spasticity0H4C5 CL E G H83674790OMIM:619950
HP:0001257HP:0001257Spasticity0HACE1 CL E G H5753121033OMIM:616756Spastic paraplegia and psychomotor retardation with or without seizures10
HP:0001257HP:0001257Spasticity0HACE1 CL E G H5753121033ORPHA:464282Spastic paraplegia-severe developmental delay-epilepsy syndromeHP:0040282 - Frequent10
HP:0001257HP:0001257Spasticity0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional54
HP:0001257HP:0001257Spasticity0HEPACAM CL E G H22029626361OMIM:604004Megalencephalic leukoencephalopathy with subcortical cysts 1.82
HP:0001257HP:0001257Spasticity0HEPACAM CL E G H22029626361OMIM:613925Megalencephalic leukoencephalopathy with subcortical cysts 2A.82
HP:0001257HP:0001257Spasticity0HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0001257HP:0001257Spasticity0HEXB CL E G H30744879ORPHA:309169Sandhoff disease, adult form80
HP:0001257HP:0001257Spasticity0HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0001257HP:0001257Spasticity0HID1 CL E G H28398715736OMIM:619983
HP:0001257HP:0001257Spasticity0HIKESHI CL E G H5150126938OMIM:616881Leukodystrophy, hypomyelinating, 13.3
HP:0001257HP:0001257Spasticity0HLA-DQB1 CL E G H31194944OMIM:126200Multiple sclerosis, susceptibility to.
HP:0001257HP:0001257Spasticity0HLA-DRB1 CL E G H31234948OMIM:126200Multiple sclerosis, susceptibility to.2
HP:0001257HP:0001257Spasticity0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040284 - Very rare35
HP:0001257HP:0001257Spasticity0HMGCL CL E G H31555005OMIM:2464503-Hydroxy-3-Methylglutaryl-Coa lyase deficiency.35
HP:0001257HP:0001257Spasticity0HNRNPA1 CL E G H31785031ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent31
HP:0001257HP:0001257Spasticity0HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0001257HP:0001257Spasticity0HPDL CL E G H8484228242OMIM:619027SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0001257HP:0001257Spasticity0HPRT1 CL E G H32515157OMIM:300322Lesch-Nyhan syndrome.76
HP:0001257HP:0001257Spasticity0HPRT1 CL E G H32515157ORPHA:510Lesch-Nyhan syndromeHP:0040281 - Very frequent76
HP:0001257HP:0001257Spasticity0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile type19
HP:0001257HP:0001257Spasticity0HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease.19
HP:0001257HP:0001257Spasticity0HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 198
HP:0001257HP:0001257Spasticity0HSPD1 CL E G H33295261ORPHA:100994Autosomal dominant spastic paraplegia type 1346
HP:0001257HP:0001257Spasticity0HSPD1 CL E G H33295261OMIM:612233Leukodystrophy, hypomyelinating, 446
HP:0001257HP:0001257Spasticity0HSPD1 CL E G H33295261OMIM:605280Spastic paraplegia 13, autosomal dominant46
HP:0001257HP:0001257Spasticity0HTRA1 CL E G H56549476OMIM:600142Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).34
HP:0001257HP:0001257Spasticity0HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0001257HP:0001257Spasticity0HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional39
HP:0001257HP:0001257Spasticity0HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome.12
HP:0001257HP:0001257Spasticity0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0001257HP:0001257Spasticity0IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndromeHP:0040283 - Occasional
HP:0001257HP:0001257Spasticity0IARS1 CL E G H33765330OMIM:617093Growth retardation, impaired intellectual development, hypotonia, and hepatopathyHP:0040283 - Occasional
HP:0001257HP:0001257Spasticity0IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 7416
HP:0001257HP:0001257Spasticity0IBA57 CL E G H20020527302OMIM:615330Multiple mitochondrial dysfunctions syndrome 316
HP:0001257HP:0001257Spasticity0IBA57 CL E G H20020527302OMIM:616451Spastic paraplegia 74, autosomal recessive16
HP:0001257HP:0001257Spasticity0IDUA CL E G H34255391ORPHA:93473Hurler syndrome115
HP:0001257HP:0001257Spasticity0IDUA CL E G H34255391ORPHA:93474Scheie syndrome115
HP:0001257HP:0001257Spasticity0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent28
HP:0001257HP:0001257Spasticity0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0001257HP:0001257Spasticity0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti.52
HP:0001257HP:0001257Spasticity0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040283 - Occasional52
HP:0001257HP:0001257Spasticity0INPP5K CL E G H5176333882ORPHA:559Marinesco-Sjögren syndromeHP:0040282 - Frequent7
HP:0001257HP:0001257Spasticity0INPP5K CL E G H5176333882OMIM:617404Muscular dystrophy, congenital, with cataracts and intellectual disability7
HP:0001257HP:0001257Spasticity0INTS8 CL E G H5565626048OMIM:618572NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS2
HP:0001257HP:0001257Spasticity0IREB2 CL E G H36586115OMIM:618451Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia.
HP:0001257HP:0001257Spasticity0IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures.
HP:0001257HP:0001257Spasticity0ISCA1 CL E G H8168928660OMIM:617613Multiple mitochondrial dysfunctions syndrome 5.1
HP:0001257HP:0001257Spasticity0ISCA2 CL E G H12296119857OMIM:616370Multiple mitochondrial dysfunctions syndrome 4.7
HP:0001257HP:0001257Spasticity0ITM2B CL E G H94456174OMIM:176500Cerebral amyloid angiopathy, itm2b-related, 1.3
HP:0001257HP:0001257Spasticity0ITM2B CL E G H94456174OMIM:117300Dementia, familial danish3
HP:0001257HP:0001257Spasticity0JAM3 CL E G H8370015532OMIM:613730Hemorrhagic destruction of the brain, subependymal calcification,and cataracts.4
HP:0001257HP:0001257Spasticity0KANK1 CL E G H2318919309OMIM:612900CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ226
HP:0001257HP:0001257Spasticity0KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001257HP:0001257Spasticity0KATNB1 CL E G H103006217OMIM:616212Lissencephaly 6, with microcephaly10
HP:0001257HP:0001257Spasticity0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional145
HP:0001257HP:0001257Spasticity0KCNA1 CL E G H37366218OMIM:160120Episodic ataxia, type 1145
HP:0001257HP:0001257Spasticity0KCNA1 CL E G H37366218ORPHA:972Hereditary continuous muscle fiber activity145
HP:0001257HP:0001257Spasticity0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0001257HP:0001257Spasticity0KCNA4 CL E G H37396222OMIM:618284Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
HP:0001257HP:0001257Spasticity0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional65
HP:0001257HP:0001257Spasticity0KCNC2 CL E G H37476234OMIM:619913
HP:0001257HP:0001257Spasticity0KCNC3 CL E G H37486235OMIM:605259Spinocerebellar ataxia 1317
HP:0001257HP:0001257Spasticity0KCNJ6 CL E G H37636267OMIM:614098Keppen-Lubinsky syndrome3
HP:0001257HP:0001257Spasticity0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndrome3
HP:0001257HP:0001257Spasticity0KCNQ2 CL E G H37856296OMIM:613720Epileptic encephalopathy, early infantile, 7528
HP:0001257HP:0001257Spasticity0KCNT1 CL E G H5758218865OMIM:614959Epileptic encephalopathy, early infantile, 14.321
HP:0001257HP:0001257Spasticity0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0001257HP:0001257Spasticity0KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutationHP:0040282 - Frequent81
HP:0001257HP:0001257Spasticity0KIDINS220 CL E G H5749829508OMIM:617296SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO4
HP:0001257HP:0001257Spasticity0KIDINS220 CL E G H5749829508ORPHA:521390Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome4
HP:0001257HP:0001257Spasticity0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040283 - Occasional46
HP:0001257HP:0001257Spasticity0KIF1A CL E G H547888ORPHA:101010Autosomal spastic paraplegia type 30276
HP:0001257HP:0001257Spasticity0KIF1A CL E G H547888OMIM:614255Mental retardation, autosomal dominant 9276
HP:0001257HP:0001257Spasticity0KIF1A CL E G H547888OMIM:610357Spastic paraplegia 30, autosomal recessive276
HP:0001257HP:0001257Spasticity0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040282 - Frequent38
HP:0001257HP:0001257Spasticity0KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive.38
HP:0001257HP:0001257Spasticity0KIF2A CL E G H37966318OMIM:615411Cortical dysplasia, complex, with other brain malformations 315
HP:0001257HP:0001257Spasticity0KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 1093
HP:0001257HP:0001257Spasticity0KIF5A CL E G H37986323OMIM:604187Spastic paraplegia 10, autosomal dominant93
HP:0001257HP:0001257Spasticity0KIF5C CL E G H38006325OMIM:615282CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM218
HP:0001257HP:0001257Spasticity0KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy1
HP:0001257HP:0001257Spasticity0KLC2 CL E G H6483720716ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndrome1
HP:0001257HP:0001257Spasticity0KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onsetHP:0040283 - Occasional11
HP:0001257HP:0001257Spasticity0KPNA3 CL E G H38396396ORPHA:171612Autosomal dominant spastic paraplegia type 37
HP:0001257HP:0001257Spasticity0KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent196
HP:0001257HP:0001257Spasticity0KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome3
HP:0001257HP:0001257Spasticity0L1CAM CL E G H38976470OMIM:304100Corpus callosum, partial agenesis of, X-linked.134
HP:0001257HP:0001257Spasticity0L1CAM CL E G H38976470OMIM:307000Hydrocephalus due to congenital stenosis of aqueduct of sylvius134
HP:0001257HP:0001257Spasticity0L1CAM CL E G H38976470ORPHA:2182Hydrocephalus with stenosis of the aqueduct of SylviusHP:0040281 - Very frequent134
HP:0001257HP:0001257Spasticity0L1CAM CL E G H38976470OMIM:303350MASA syndrome134
HP:0001257HP:0001257Spasticity0L1CAM CL E G H38976470ORPHA:2466MASA syndrome134
HP:0001257HP:0001257Spasticity0L1CAM CL E G H38976470ORPHA:1497X-linked complicated corpus callosum dysgenesisHP:0040282 - Frequent134
HP:0001257HP:0001257Spasticity0L1CAM CL E G H38976470ORPHA:306617X-linked complicated spastic paraplegia type 1134
HP:0001257HP:0001257Spasticity0L2HGDH CL E G H7994420499ORPHA:79314L-2-hydroxyglutaric aciduria34
HP:0001257HP:0001257Spasticity0L2HGDH CL E G H7994420499OMIM:236792L-2-Hydroxyglutaric aciduria34
HP:0001257HP:0001257Spasticity0LAGE3 CL E G H827026058OMIM:301006Galloway-Mowat syndrome 2, X-linked.
HP:0001257HP:0001257Spasticity0LAMB1 CL E G H39126486OMIM:615191Lissencephaly 571
HP:0001257HP:0001257Spasticity0LETM1 CL E G H39546556OMIM:6200892
HP:0001257HP:0001257Spasticity0LIAS CL E G H1101916429OMIM:614462Hyperglycinemia, lactic acidosis, and seizures31
HP:0001257HP:0001257Spasticity0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001257HP:0001257Spasticity0LINGO1 CL E G H8489421205OMIM:618103Mental retardation, autosomal recessive 64HP:0040284 - Very rare
HP:0001257HP:0001257Spasticity0LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent21
HP:0001257HP:0001257Spasticity0LIPT1 CL E G H5160129569OMIM:616299Lipoyltransferase 1 deficiency21
HP:0001257HP:0001257Spasticity0LIPT2 CL E G H38778737216OMIM:617668Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities2
HP:0001257HP:0001257Spasticity0LMBRD2 CL E G H9225525287OMIM:619694DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0001257HP:0001257Spasticity0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040282 - Frequent44
HP:0001257HP:0001257Spasticity0LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant.44
HP:0001257HP:0001257Spasticity0LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0001257HP:0001257Spasticity0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndrome165
HP:0001257HP:0001257Spasticity0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040282 - Frequent191
HP:0001257HP:0001257Spasticity0LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional221
HP:0001257HP:0001257Spasticity0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent
HP:0001257HP:0001257Spasticity0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 810
HP:0001257HP:0001257Spasticity0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndrome239
HP:0001257HP:0001257Spasticity0MACF1 CL E G H2349913664OMIM:618325Lissencephaly 9 with complex brainstem malformation.2
HP:0001257HP:0001257Spasticity0MACF1 CL E G H2349913664ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome2
HP:0001257HP:0001257Spasticity0MAG CL E G H40996783ORPHA:459056Autosomal recessive spastic paraplegia type 75HP:0040281 - Very frequent4
HP:0001257HP:0001257Spasticity0MAG CL E G H40996783OMIM:616680Spastic paraplegia 75, autosomal recessive4
HP:0001257HP:0001257Spasticity0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis.136
HP:0001257HP:0001257Spasticity0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile form136
HP:0001257HP:0001257Spasticity0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities.
HP:0001257HP:0001257Spasticity0MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndrome140
HP:0001257HP:0001257Spasticity0MARS1 CL E G H41416898ORPHA:401835Autosomal recessive spastic paraplegia type 70
HP:0001257HP:0001257Spasticity0MARS2 CL E G H9293525133ORPHA:314603Autosomal recessive spastic ataxia with leukoencephalopathyHP:0040282 - Frequent25
HP:0001257HP:0001257Spasticity0MARS2 CL E G H9293525133OMIM:611390Spastic ataxia 3, autosomal recessive.25
HP:0001257HP:0001257Spasticity0MATR3 CL E G H97826912ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent80
HP:0001257HP:0001257Spasticity0MCCC1 CL E G H569226936OMIM:2102003-Methylcrotonyl-CoA carboxylase 1 deficiency81
HP:0001257HP:0001257Spasticity0MCCC1 CL E G H569226936ORPHA:63-methylcrotonyl-CoA carboxylase deficiencyHP:0040283 - Occasional81
HP:0001257HP:0001257Spasticity0MCCC2 CL E G H640876937OMIM:2102103-Methylcrotonyl-CoA carboxylase 2 deficiency77
HP:0001257HP:0001257Spasticity0MCCC2 CL E G H640876937ORPHA:63-methylcrotonyl-CoA carboxylase deficiencyHP:0040283 - Occasional77
HP:0001257HP:0001257Spasticity0MCEE CL E G H8469316732OMIM:251120Methylmalonyl-Coa epimerase deficiency19
HP:0001257HP:0001257Spasticity0MCOLN1 CL E G H5719213356OMIM:252650Mucolipidosis IV78
HP:0001257HP:0001257Spasticity0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent950
HP:0001257HP:0001257Spasticity0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0001257HP:0001257Spasticity0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0001257HP:0001257Spasticity0MECP2 CL E G H42046990OMIM:312750Rett syndrome.950
HP:0001257HP:0001257Spasticity0MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndrome950
HP:0001257HP:0001257Spasticity0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalitiesHP:0040283 - Occasional6
HP:0001257HP:0001257Spasticity0MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0001257HP:0001257Spasticity0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiency74
HP:0001257HP:0001257Spasticity0MED17 CL E G H94402375OMIM:613668Microcephaly, postnatal progressive, with seizures and brain atrophy.23
HP:0001257HP:0001257Spasticity0MED23 CL E G H94392372OMIM:614249Mental retardation, autosomal recessive 1825
HP:0001257HP:0001257Spasticity0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0001257HP:0001257Spasticity0MED25 CL E G H8185728845OMIM:616449Basel-Vanagaite-Smirin-Yosef syndrome.43
HP:0001257HP:0001257Spasticity0MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0001257HP:0001257Spasticity0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0001257HP:0001257Spasticity0METTL5 CL E G H2908125006OMIM:618665INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0001257HP:0001257Spasticity0MFF CL E G H5694724858OMIM:617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2.17
HP:0001257HP:0001257Spasticity0MFF CL E G H5694724858ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040282 - Frequent17
HP:0001257HP:0001257Spasticity0MFN2 CL E G H992716877OMIM:609260Charcot-marie-tooth disease, axonal, type 2A2AHP:0040283 - Occasional203
HP:0001257HP:0001257Spasticity0MFSD2A CL E G H8487925897OMIM:616486Microcephaly 15, primary, autosomal recessive5
HP:0001257HP:0001257Spasticity0MICOS13 CL E G H12598833702ORPHA:670473-methylglutaconic aciduria type 3
HP:0001257HP:0001257Spasticity0MICOS13 CL E G H12598833702OMIM:618329COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001257HP:0001257Spasticity0MINPP1 CL E G H95627102ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040283 - Occasional3
HP:0001257HP:0001257Spasticity0MINPP1 CL E G H95627102OMIM:619527PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH163
HP:0001257HP:0001257Spasticity0MLC1 CL E G H2320917082OMIM:604004Megalencephalic leukoencephalopathy with subcortical cysts 1.112
HP:0001257HP:0001257Spasticity0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0001257HP:0001257Spasticity0MOCS1 CL E G H43377190OMIM:252150Molybdenum cofactor deficiency, complementation group A96
HP:0001257HP:0001257Spasticity0MOCS2 CL E G H43387193OMIM:252160Molybdenum cofactor deficiency, complementation group B26
HP:0001257HP:0001257Spasticity0MORC2 CL E G H2288023573OMIM:619090DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN8
HP:0001257HP:0001257Spasticity0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0001257HP:0001257Spasticity0MRE11 CL E G H43617230OMIM:604391Ataxia-Telangiectasia-Like disorder 1532
HP:0001257HP:0001257Spasticity0MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0001257HP:0001257Spasticity0MRPS22 CL E G H5694514508OMIM:611719Combined oxidative phosphorylation deficiency 525
HP:0001257HP:0001257Spasticity0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 32.1
HP:0001257HP:0001257Spasticity0MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0001257HP:0001257Spasticity0MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent29
HP:0001257HP:0001257Spasticity0MTFMT CL E G H12326329666OMIM:618248Mitochondrial complex I deficiency, nuclear type 27.29
HP:0001257HP:0001257Spasticity0MTHFR CL E G H45247436ORPHA:395Homocystinuria due to methylene tetrahydrofolate reductase deficiency183
HP:0001257HP:0001257Spasticity0MTHFS CL E G H105887437OMIM:618367Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination.
HP:0001257HP:0001257Spasticity0MTO1 CL E G H2582119261OMIM:614702Combined oxidative phosphorylation deficiency 10HP:0040283 - Occasional39
HP:0001257HP:0001257Spasticity0MTPAP CL E G H5514925532ORPHA:254343Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome19
HP:0001257HP:0001257Spasticity0MTPAP CL E G H5514925532OMIM:613672Spastic ataxia 4, autosomal recessive19
HP:0001257HP:0001257Spasticity0MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55HP:0040282 - Frequent
HP:0001257HP:0001257Spasticity0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7
HP:0001257HP:0001257Spasticity0MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive
HP:0001257HP:0001257Spasticity0MYO5A CL E G H46447602ORPHA:33445Neuroectodermal melanolysosomal diseaseHP:0040283 - Occasional35
HP:0001257HP:0001257Spasticity0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0001257HP:0001257Spasticity0NACC1 CL E G H11293920967OMIM:617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination.1
HP:0001257HP:0001257Spasticity0NACC1 CL E G H11293920967ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataractHP:0040283 - Occasional1
HP:0001257HP:0001257Spasticity0NADK2 CL E G H13368626404OMIM:6160342,4-Dienoyl-Coa reductase deficiency.14
HP:0001257HP:0001257Spasticity0NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiency14
HP:0001257HP:0001257Spasticity0NAGA CL E G H46687631ORPHA:79279Alpha-N-acetylgalactosaminidase deficiency type 1HP:0040281 - Very frequent47
HP:0001257HP:0001257Spasticity0NAGA CL E G H46687631OMIM:609241Schindler disease, type I.47
HP:0001257HP:0001257Spasticity0NALCN CL E G H25923219082OMIM:615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 148
HP:0001257HP:0001257Spasticity0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome48
HP:0001257HP:0001257Spasticity0NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 24.34
HP:0001257HP:0001257Spasticity0NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0001257HP:0001257Spasticity0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0001257HP:0001257Spasticity0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001257HP:0001257Spasticity0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001257HP:0001257Spasticity0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001257HP:0001257Spasticity0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001257HP:0001257Spasticity0ND5 CL