Human Phenotype Ontology 
Grandparent Node:
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Abnormal central motor function (HP:0011442)help
Parent Node:
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Abnormality of coordination (HP:0011443)help
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Incoordination (HP:0002311)help
Term ID: 2311
Name: Incoordination
Synonym: Difficulties in coordination; Incoordination; Incoordination of limb movements; Limb incoordination
Definition:
Comments:
Reference: HP:0002311
Genes and Diseases:
 
       Child Nodes:
........expandClumsiness (HP:0002312) help
........expandFrequent falls (HP:0002359) help
........expandPoor coordination (HP:0002370) help
................... HP:0007057 Poor hand-eye coordination

 Sister Nodes: 
..expandAtaxia (HP:0001251) help
..expandMotor impersistence (HP:0040200) help
..expandPoor motor coordination (HP:0002275) help
..expandSlurred speech (HP:0001350) 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:0002311HP:0002311Incoordination0AASS CL E G H1015717366ORPHA:2203Hyperlysinemia15
HP:0002311HP:0002311Incoordination0ABCA2 CL E G H2032OMIM:618808INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0002311HP:0002311Incoordination0ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy.135
HP:0002311HP:0002311Incoordination0ACOX1 CL E G H51119OMIM:618960MITCHELL SYNDROME; MITCH120
HP:0002311HP:0002311Incoordination0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathy96
HP:0002311HP:0002311Incoordination0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 396
HP:0002311HP:0002311Incoordination0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosis116
HP:0002311HP:0002311Incoordination0ADCY5 CL E G H111236OMIM:619647DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR25
HP:0002311HP:0002311Incoordination0ADGRV1 CL E G H8405917416ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional530
HP:0002311HP:0002311Incoordination0ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0002311HP:0002311Incoordination0AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disability59
HP:0002311HP:0002311Incoordination0AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe59
HP:0002311HP:0002311Incoordination0ALG13 CL E G H7986830881ORPHA:324422ALG13-CDG96
HP:0002311HP:0002311Incoordination0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defect12
HP:0002311HP:0002311Incoordination0ALG14 CL E G H19985728287OMIM:616227Myasthenic syndrome, congenital, 1512
HP:0002311HP:0002311Incoordination0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defect46
HP:0002311HP:0002311Incoordination0ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0002311HP:0002311Incoordination0APC2 CL E G H1029724036ORPHA:821Sotos syndrome1
HP:0002311HP:0002311Incoordination0ARG1 CL E G H383663OMIM:207800Argininemia31
HP:0002311HP:0002311Incoordination0ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations1
HP:0002311HP:0002311Incoordination0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0002311HP:0002311Incoordination0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0002311HP:0002311Incoordination0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile form253
HP:0002311HP:0002311Incoordination0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile form253
HP:0002311HP:0002311Incoordination0ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy78
HP:0002311HP:0002311Incoordination0ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndrome78
HP:0002311HP:0002311Incoordination0ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 371
HP:0002311HP:0002311Incoordination0ATP1A3 CL E G H478801OMIM:601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss.150
HP:0002311HP:0002311Incoordination0ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxia19
HP:0002311HP:0002311Incoordination0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosis
HP:0002311HP:0002311Incoordination0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera type36
HP:0002311HP:0002311Incoordination0ATP7B CL E G H540870ORPHA:905Wilson disease315
HP:0002311HP:0002311Incoordination0ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 10.9
HP:0002311HP:0002311Incoordination0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 114
HP:0002311HP:0002311Incoordination0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 214
HP:0002311HP:0002311Incoordination0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 314
HP:0002311HP:0002311Incoordination0ATXN8 CL E G H72406632925OMIM:608768Spinocerebellar ataxia 8.1
HP:0002311HP:0002311Incoordination0ATXN8OS CL E G H631510561OMIM:608768Spinocerebellar ataxia 8.1
HP:0002311HP:0002311Incoordination0B4GALNT1 CL E G H25834117OMIM:609195Spastic paraplegia 26, autosomal recessive25
HP:0002311HP:0002311Incoordination0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0002311HP:0002311Incoordination0BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0002311HP:0002311Incoordination0BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafness53
HP:0002311HP:0002311Incoordination0C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegeneration114
HP:0002311HP:0002311Incoordination0CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6HP:0040281 - Very frequent449
HP:0002311HP:0002311Incoordination0CAPN3 CL E G H8251480OMIM:253600Muscular dystrophy, limb-girdle, type 2A323
HP:0002311HP:0002311Incoordination0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0002311HP:0002311Incoordination0CAV3 CL E G H8591529ORPHA:488650Distal myopathy, Tateyama type148
HP:0002311HP:0002311Incoordination0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0002311HP:0002311Incoordination0CCDC78 CL E G H12409314153OMIM:614807Myopathy, centronuclear, 425
HP:0002311HP:0002311Incoordination0CDC42BPB CL E G H95781738OMIM:619841
HP:0002311HP:0002311Incoordination0CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 735
HP:0002311HP:0002311Incoordination0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0002311HP:0002311Incoordination0CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0002311HP:0002311Incoordination0CHP1 CL E G H1126117433OMIM:618438Spastic ataxia 9, autosomal recessive
HP:0002311HP:0002311Incoordination0CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafness9
HP:0002311HP:0002311Incoordination0CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafness27
HP:0002311HP:0002311Incoordination0CLN5 CL E G H12032076OMIM:256731Ceroid lipofuscinosis, neuronal, 5141
HP:0002311HP:0002311Incoordination0CLN5 CL E G H12032076ORPHA:228360CLN5 disease141
HP:0002311HP:0002311Incoordination0CLN8 CL E G H20552079OMIM:610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant111
HP:0002311HP:0002311Incoordination0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish type111
HP:0002311HP:0002311Incoordination0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0002311HP:0002311Incoordination0COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich type65
HP:0002311HP:0002311Incoordination0COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich type442
HP:0002311HP:0002311Incoordination0COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich type478
HP:0002311HP:0002311Incoordination0COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich type702
HP:0002311HP:0002311Incoordination0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromes90
HP:0002311HP:0002311Incoordination0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar type54
HP:0002311HP:0002311Incoordination0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian type54
HP:0002311HP:0002311Incoordination0COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0002311HP:0002311Incoordination0CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsy1
HP:0002311HP:0002311Incoordination0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0002311HP:0002311Incoordination0CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disability
HP:0002311HP:0002311Incoordination0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency9
HP:0002311HP:0002311Incoordination0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0002311HP:0002311Incoordination0DAB1 CL E G H16002661OMIM:615945Spinocerebellar ataxia 374
HP:0002311HP:0002311Incoordination0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome60
HP:0002311HP:0002311Incoordination0DCC CL E G H16302701ORPHA:238722Familial congenital mirror movements36
HP:0002311HP:0002311Incoordination0DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndrome33
HP:0002311HP:0002311Incoordination0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0002311HP:0002311Incoordination0DNAL4 CL E G H101262955ORPHA:238722Familial congenital mirror movements2
HP:0002311HP:0002311Incoordination0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defect38
HP:0002311HP:0002311Incoordination0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen disease65
HP:0002311HP:0002311Incoordination0DYNC1H1 CL E G H17782961OMIM:614228Charcot-marie-tooth disease, axonal, type 2O427
HP:0002311HP:0002311Incoordination0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0002311HP:0002311Incoordination0EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome4
HP:0002311HP:0002311Incoordination0EEF1A2 CL E G H19173192OMIM:616409Epileptic encephalopathy, early infantile, 3360
HP:0002311HP:0002311Incoordination0EEF2 CL E G H19383214OMIM:609306Spinocerebellar ataxia 26.4
HP:0002311HP:0002311Incoordination0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0002311HP:0002311Incoordination0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0002311HP:0002311Incoordination0ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III.133
HP:0002311HP:0002311Incoordination0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0002311HP:0002311Incoordination0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome158
HP:0002311HP:0002311Incoordination0FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 3576
HP:0002311HP:0002311Incoordination0FHL1 CL E G H22733702OMIM:300718Myopathy, reducing body, X-linked, childhood-onset68
HP:0002311HP:0002311Incoordination0FIG4 CL E G H989616873OMIM:611228Charcot-Marie-Tooth disease, type 4J111
HP:0002311HP:0002311Incoordination0FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disability157
HP:0002311HP:0002311Incoordination0FKRP CL E G H7914717997ORPHA:34515FKRP-related limb-girdle muscular dystrophy R9157
HP:0002311HP:0002311Incoordination0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5157
HP:0002311HP:0002311Incoordination0FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5157
HP:0002311HP:0002311Incoordination0FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disability184
HP:0002311HP:0002311Incoordination0FRRS1L CL E G H237321362ORPHA:725Continuous spikes and waves during sleep4
HP:0002311HP:0002311Incoordination0GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040283 - Occasional134
HP:0002311HP:0002311Incoordination0GABRD CL E G H25634084ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional10
HP:0002311HP:0002311Incoordination0GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040283 - Occasional139
HP:0002311HP:0002311Incoordination0GABRG2 CL E G H25664087ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional139
HP:0002311HP:0002311Incoordination0GALC CL E G H25814115ORPHA:206448Adult Krabbe disease160
HP:0002311HP:0002311Incoordination0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe disease160
HP:0002311HP:0002311Incoordination0GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040283 - Occasional351
HP:0002311HP:0002311Incoordination0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson disease
HP:0002311HP:0002311Incoordination0GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0002311HP:0002311Incoordination0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0002311HP:0002311Incoordination0GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0002311HP:0002311Incoordination0GDAP2 CL E G H5483418010OMIM:618369Spinocerebellar ataxia, autosomal recessive 27
HP:0002311HP:0002311Incoordination0GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defect128
HP:0002311HP:0002311Incoordination0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson disease8
HP:0002311HP:0002311Incoordination0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1HP:0040283 - Occasional107
HP:0002311HP:0002311Incoordination0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxia107
HP:0002311HP:0002311Incoordination0GLRA1 CL E G H27414326OMIM:149400Hyperekplexia 163
HP:0002311HP:0002311Incoordination0GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defect34
HP:0002311HP:0002311Incoordination0GPHN CL E G H1024315465OMIM:149400Hyperekplexia 118
HP:0002311HP:0002311Incoordination0GRID2 CL E G H28954576OMIM:616204SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR1818
HP:0002311HP:0002311Incoordination0GRIN2A CL E G H29034585ORPHA:725Continuous spikes and waves during sleep434
HP:0002311HP:0002311Incoordination0GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndrome434
HP:0002311HP:0002311Incoordination0GRM1 CL E G H29114593OMIM:617691SPINOCEREBELLAR ATAXIA 44; SCA448
HP:0002311HP:0002311Incoordination0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiency99
HP:0002311HP:0002311Incoordination0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiency60
HP:0002311HP:0002311Incoordination0HAX1 CL E G H1045616915OMIM:610738NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN332
HP:0002311HP:0002311Incoordination0HCN1 CL E G H3489804845ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional54
HP:0002311HP:0002311Incoordination0HEPACAM CL E G H22029626361OMIM:613926Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation82
HP:0002311HP:0002311Incoordination0HEXB CL E G H30744879ORPHA:309162Sandhoff disease, juvenile form80
HP:0002311HP:0002311Incoordination0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0002311HP:0002311Incoordination0HLA-DQB1 CL E G H31194944OMIM:126200Multiple sclerosis, susceptibility to.
HP:0002311HP:0002311Incoordination0HLA-DRB1 CL E G H31234948OMIM:126200Multiple sclerosis, susceptibility to.2
HP:0002311HP:0002311Incoordination0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile type19
HP:0002311HP:0002311Incoordination0HTT CL E G H30644851ORPHA:399Huntington disease12
HP:0002311HP:0002311Incoordination0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0002311HP:0002311Incoordination0ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type19
HP:0002311HP:0002311Incoordination0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathy80
HP:0002311HP:0002311Incoordination0KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1145
HP:0002311HP:0002311Incoordination0KCNA1 CL E G H37366218OMIM:160120Episodic ataxia, type 1.145
HP:0002311HP:0002311Incoordination0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 1317
HP:0002311HP:0002311Incoordination0KCND3 CL E G H37526239ORPHA:98772Spinocerebellar ataxia type 19/2235
HP:0002311HP:0002311Incoordination0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0002311HP:0002311Incoordination0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 5838
HP:0002311HP:0002311Incoordination0KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive38
HP:0002311HP:0002311Incoordination0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathy13
HP:0002311HP:0002311Incoordination0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromes92
HP:0002311HP:0002311Incoordination0LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type.46
HP:0002311HP:0002311Incoordination0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson disease221
HP:0002311HP:0002311Incoordination0LYST CL E G H11301968ORPHA:352723Attenuated Chédiak-Higashi syndromeHP:0040283 - Occasional239
HP:0002311HP:0002311Incoordination0LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0002311HP:0002311Incoordination0MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult form136
HP:0002311HP:0002311Incoordination0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile form136
HP:0002311HP:0002311Incoordination0MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndrome140
HP:0002311HP:0002311Incoordination0MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndrome140
HP:0002311HP:0002311Incoordination0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities6
HP:0002311HP:0002311Incoordination0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0002311HP:0002311Incoordination0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0002311HP:0002311Incoordination0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0002311HP:0002311Incoordination0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0002311HP:0002311Incoordination0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0002311HP:0002311Incoordination0MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndrome134
HP:0002311HP:0002311Incoordination0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorder532
HP:0002311HP:0002311Incoordination0MRE11 CL E G H43617230OMIM:604391Ataxia-Telangiectasia-Like disorder 1532
HP:0002311HP:0002311Incoordination0MTFMT CL E G H12326329666OMIM:614947Combined oxidative phosphorylation deficiency 15.29
HP:0002311HP:0002311Incoordination0MTHFR CL E G H45247436OMIM:236250Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity.183
HP:0002311HP:0002311Incoordination0MTPAP CL E G H5514925532ORPHA:254343Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome19
HP:0002311HP:0002311Incoordination0MTR CL E G H45487468OMIM:250940Homocystinuria-megaloblastic anemia, cblg Complementation type217
HP:0002311HP:0002311Incoordination0MYPN CL E G H8466523246ORPHA:171881Cap myopathy217
HP:0002311HP:0002311Incoordination0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathy217
HP:0002311HP:0002311Incoordination0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0002311HP:0002311Incoordination0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathy745
HP:0002311HP:0002311Incoordination0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0002311HP:0002311Incoordination0NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CC24
HP:0002311HP:0002311Incoordination0NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0002311HP:0002311Incoordination0NIPA1 CL E G H12360617043ORPHA:26118315q11.2 microdeletion syndrome117
HP:0002311HP:0002311Incoordination0NIPA2 CL E G H8161417044ORPHA:26118315q11.2 microdeletion syndrome1
HP:0002311HP:0002311Incoordination0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040283 - Occasional51
HP:0002311HP:0002311Incoordination0NKX2-1 CL E G H708011825OMIM:118700Chorea, benign hereditary51
HP:0002311HP:0002311Incoordination0NOL3 CL E G H89967869OMIM:614937Myoclonus, familial cortical1
HP:0002311HP:0002311Incoordination0NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 36.9
HP:0002311HP:0002311Incoordination0NR4A2 CL E G H49297981OMIM:61991127
HP:0002311HP:0002311Incoordination0NSD1 CL E G H6432414234ORPHA:821Sotos syndrome544
HP:0002311HP:0002311Incoordination0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0002311HP:0002311Incoordination0NTN1 CL E G H94238029ORPHA:238722Familial congenital mirror movements
HP:0002311HP:0002311Incoordination0NUDT2 CL E G H3188049OMIM:619844
HP:0002311HP:0002311Incoordination0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosis7
HP:0002311HP:0002311Incoordination0OPA1 CL E G H49768140OMIM:210000Behr syndrome214
HP:0002311HP:0002311Incoordination0PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0002311HP:0002311Incoordination0PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegeneration55
HP:0002311HP:0002311Incoordination0PANK2 CL E G H8002515894ORPHA:216866Classic pantothenate kinase-associated neurodegeneration55
HP:0002311HP:0002311Incoordination0PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040283 - Occasional225
HP:0002311HP:0002311Incoordination0PDCD1 CL E G H51338760OMIM:126200Multiple sclerosis, susceptibility to.1
HP:0002311HP:0002311Incoordination0PDE10A CL E G H108468772OMIM:616921Dyskinesia, limb and orofacial, infantile-onset5
HP:0002311HP:0002311Incoordination0PDE10A CL E G H108468772ORPHA:494526Infantile-onset generalized dyskinesia with orofacial involvement5
HP:0002311HP:0002311Incoordination0PDE2A CL E G H51388777OMIM:619150INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0002311HP:0002311Incoordination0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0002311HP:0002311Incoordination0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0002311HP:0002311Incoordination0PI4KA CL E G H52978983OMIM:619621SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG8411
HP:0002311HP:0002311Incoordination0PIK3R5 CL E G H2353330035OMIM:615217Ataxia-Oculomotor apraxia 311
HP:0002311HP:0002311Incoordination0PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonism133
HP:0002311HP:0002311Incoordination0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0002311HP:0002311Incoordination0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0002311HP:0002311Incoordination0PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G1
HP:0002311HP:0002311Incoordination0PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndrome79
HP:0002311HP:0002311Incoordination0PMPCA CL E G H2320318667OMIM:213200Spinocerebellar ataxia, autosomal recessive 2.7
HP:0002311HP:0002311Incoordination0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040284 - Very rare35
HP:0002311HP:0002311Incoordination0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegia464
HP:0002311HP:0002311Incoordination0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0002311HP:0002311Incoordination0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegia45
HP:0002311HP:0002311Incoordination0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndrome138
HP:0002311HP:0002311Incoordination0POLR3B CL E G H5570330348OMIM:619742CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I67
HP:0002311HP:0002311Incoordination0POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disability213
HP:0002311HP:0002311Incoordination0PRNP CL E G H56219449OMIM:603218Huntington disease-like 1.69
HP:0002311HP:0002311Incoordination0PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040283 - Occasional69
HP:0002311HP:0002311Incoordination0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob disease69
HP:0002311HP:0002311Incoordination0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult form81
HP:0002311HP:0002311Incoordination0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile form81
HP:0002311HP:0002311Incoordination0PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile form81
HP:0002311HP:0002311Incoordination0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0002311HP:0002311Incoordination0RAD51 CL E G H58889817ORPHA:238722Familial congenital mirror movements9
HP:0002311HP:0002311Incoordination0RDH11 CL E G H5110917964ORPHA:436245Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndromeHP:0040282 - Frequent2
HP:0002311HP:0002311Incoordination0REEP1 CL E G H6505525786OMIM:62001187
HP:0002311HP:0002311Incoordination0RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome5
HP:0002311HP:0002311Incoordination0RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndrome7
HP:0002311HP:0002311Incoordination0RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutation
HP:0002311HP:0002311Incoordination0RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0002311HP:0002311Incoordination0RPIA CL E G H2293410297OMIM:608611Ribose 5-phosphate isomerase deficiency.18
HP:0002311HP:0002311Incoordination0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0002311HP:0002311Incoordination0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegia125
HP:0002311HP:0002311Incoordination0SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040283 - Occasional1053
HP:0002311HP:0002311Incoordination0SCN1A CL E G H632310585ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional1053
HP:0002311HP:0002311Incoordination0SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040283 - Occasional126
HP:0002311HP:0002311Incoordination0SCN1B CL E G H632410586ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional126
HP:0002311HP:0002311Incoordination0SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040283 - Occasional427
HP:0002311HP:0002311Incoordination0SCN2A CL E G H632610588ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional427
HP:0002311HP:0002311Incoordination0SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040283 - Occasional318
HP:0002311HP:0002311Incoordination0SCN9A CL E G H633510597ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional318
HP:0002311HP:0002311Incoordination0SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect40
HP:0002311HP:0002311Incoordination0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0002311HP:0002311Incoordination0SCYL1 CL E G H5741014372OMIM:616719Spinocerebellar ataxia, autosomal recessive 215
HP:0002311HP:0002311Incoordination0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiency304
HP:0002311HP:0002311Incoordination0SDHA CL E G H638910680OMIM:619259NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA304
HP:0002311HP:0002311Incoordination0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiency16
HP:0002311HP:0002311Incoordination0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiency237
HP:0002311HP:0002311Incoordination0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiency129
HP:0002311HP:0002311Incoordination0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 58.1
HP:0002311HP:0002311Incoordination0SETD2 CL E G H2907218420ORPHA:821Sotos syndrome60
HP:0002311HP:0002311Incoordination0SGCA CL E G H644210805ORPHA:62Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3132
HP:0002311HP:0002311Incoordination0SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R583
HP:0002311HP:0002311Incoordination0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0002311HP:0002311Incoordination0SIM1 CL E G H649210882ORPHA:1718296q16 microdeletion syndrome40
HP:0002311HP:0002311Incoordination0SLC12A6 CL E G H999010914OMIM:620068163
HP:0002311HP:0002311Incoordination0SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 2.2
HP:0002311HP:0002311Incoordination0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0002311HP:0002311Incoordination0SLC22A5 CL E G H658410969ORPHA:158Systemic primary carnitine deficiency207
HP:0002311HP:0002311Incoordination0SLC25A1 CL E G H657610979OMIM:618197Myasthenic syndrome, congenital, 23, presynaptic28
HP:0002311HP:0002311Incoordination0SLC25A15 CL E G H1016610985ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome88
HP:0002311HP:0002311Incoordination0SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome88
HP:0002311HP:0002311Incoordination0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegia68
HP:0002311HP:0002311Incoordination0SLC2A3 CL E G H651511007ORPHA:399Huntington disease1
HP:0002311HP:0002311Incoordination0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0002311HP:0002311Incoordination0SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 247
HP:0002311HP:0002311Incoordination0SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 151
HP:0002311HP:0002311Incoordination0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked122
HP:0002311HP:0002311Incoordination0SMG9 CL E G H5600625763OMIM:6199952
HP:0002311HP:0002311Incoordination0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson disease65
HP:0002311HP:0002311Incoordination0SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0002311HP:0002311Incoordination0SPTBN2 CL E G H671211276OMIM:600224Spinocerebellar ataxia 5.126
HP:0002311HP:0002311Incoordination0SPTBN2 CL E G H671211276ORPHA:98766Spinocerebellar ataxia type 5HP:0040281 - Very frequent126
HP:0002311HP:0002311Incoordination0SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0002311HP:0002311Incoordination0SQSTM1 CL E G H887811280ORPHA:603Distal myopathy, Welander type62
HP:0002311HP:0002311Incoordination0STIM1 CL E G H678611386OMIM:160565Myopathy, tubular aggregate, 131
HP:0002311HP:0002311Incoordination0STX1B CL E G H11275518539ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional9
HP:0002311HP:0002311Incoordination0SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce type1129
HP:0002311HP:0002311Incoordination0SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathy108
HP:0002311HP:0002311Incoordination0TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonism21
HP:0002311HP:0002311Incoordination0TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0002311HP:0002311Incoordination0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040282 - Frequent12
HP:0002311HP:0002311Incoordination0TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11
HP:0002311HP:0002311Incoordination0TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsy271
HP:0002311HP:0002311Incoordination0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities1
HP:0002311HP:0002311Incoordination0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome.241
HP:0002311HP:0002311Incoordination0TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 35.58
HP:0002311HP:0002311Incoordination0TIA1 CL E G H707211802ORPHA:603Distal myopathy, Welander type5
HP:0002311HP:0002311Incoordination0TPM2 CL E G H716912011ORPHA:171881Cap myopathy54
HP:0002311HP:0002311Incoordination0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathy54
HP:0002311HP:0002311Incoordination0TPM3 CL E G H717012012ORPHA:171881Cap myopathy108
HP:0002311HP:0002311Incoordination0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathy108
HP:0002311HP:0002311Incoordination0TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia203
HP:0002311HP:0002311Incoordination0TPP1 CL E G H12002073OMIM:609270Spinocerebellar ataxia, autosomal recessive 7203
HP:0002311HP:0002311Incoordination0TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitus
HP:0002311HP:0002311Incoordination0TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiency9
HP:0002311HP:0002311Incoordination0TTC19 CL E G H5490226006OMIM:615157Mitochondrial complex III deficiency, nuclear type 2.88
HP:0002311HP:0002311Incoordination0TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0002311HP:0002311Incoordination0TTN CL E G H727312403ORPHA:609Tibial muscular dystrophy7128
HP:0002311HP:0002311Incoordination0TTPA CL E G H727412404OMIM:277460VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF62
HP:0002311HP:0002311Incoordination0TUBG1 CL E G H728312417ORPHA:26118315q11.2 microdeletion syndrome14
HP:0002311HP:0002311Incoordination0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegia113
HP:0002311HP:0002311Incoordination0TWNK CL E G H566521160OMIM:271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)113
HP:0002311HP:0002311Incoordination0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0002311HP:0002311Incoordination0TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 291
HP:0002311HP:0002311Incoordination0UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0002311HP:0002311Incoordination0VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutation63
HP:0002311HP:0002311Incoordination0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2Y63
HP:0002311HP:0002311Incoordination0VPS13D CL E G H5518723595OMIM:607317Spinocerebellar ataxia, autosomal recessive 4
HP:0002311HP:0002311Incoordination0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson disease37
HP:0002311HP:0002311Incoordination0VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0002311HP:0002311Incoordination0YWHAG CL E G H753212852OMIM:617665Epileptic encephalopathy, early infantile, 56
HP:0002311HP:0002312Clumsiness1AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0002311HP:0002312Clumsiness1ACOX1 CL E G H51119OMIM:618960MITCHELL SYNDROME; MITCH120
HP:0002311HP:0002312Clumsiness1ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent96
HP:0002311HP:0002359Frequent falls1ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0002311HP:0002359Frequent falls1ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional116
HP:0002311HP:0002359Frequent falls1ADCY5 CL E G H111236OMIM:619647DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR25
HP:0002311HP:0002359Frequent falls1ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040283 - Occasional
HP:0002311HP:0002312Clumsiness1AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disabilityHP:0040282 - Frequent59
HP:0002311HP:0002370Poor coordination1AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe59
HP:0002311HP:0002312Clumsiness1ALG13 CL E G H7986830881ORPHA:324422ALG13-CDGHP:0040283 - Occasional96
HP:0002311HP:0002359Frequent falls1ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional12
HP:0002311HP:0002359Frequent falls1ALG14 CL E G H19985728287OMIM:616227Myasthenic syndrome, congenital, 1512
HP:0002311HP:0002359Frequent falls1ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional46
HP:0002311HP:0002370Poor coordination1APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040283 - Occasional1
HP:0002311HP:0002359Frequent falls1ARG1 CL E G H383663OMIM:207800Argininemia31
HP:0002311HP:0002359Frequent falls1ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations.1
HP:0002311HP:0002370Poor coordination1ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 1.29
HP:0002311HP:0002312Clumsiness1ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent253
HP:0002311HP:0002359Frequent falls1ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent253
HP:0002311HP:0002312Clumsiness1ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent253
HP:0002311HP:0002359Frequent falls1ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent253
HP:0002311HP:0002359Frequent falls1ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent253
HP:0002311HP:0002312Clumsiness1ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent253
HP:0002311HP:0002359Frequent falls1ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy.78
HP:0002311HP:0002359Frequent falls1ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040282 - Frequent78
HP:0002311HP:0002312Clumsiness1ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040282 - Frequent78
HP:0002311HP:0002359Frequent falls1ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 3HP:0040284 - Very rare71
HP:0002311HP:0002359Frequent falls1ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxiaHP:0040282 - Frequent19
HP:0002311HP:0002312Clumsiness1ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxiaHP:0040282 - Frequent19
HP:0002311HP:0002359Frequent falls1ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional
HP:0002311HP:0002359Frequent falls1ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040283 - Occasional36
HP:0002311HP:0002312Clumsiness1ATP7B CL E G H540870ORPHA:905Wilson diseaseHP:0040281 - Very frequent315
HP:0002311HP:0002312Clumsiness1ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 1HP:0040282 - Frequent14
HP:0002311HP:0002312Clumsiness1ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 2HP:0040282 - Frequent14
HP:0002311HP:0002312Clumsiness1ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040282 - Frequent14
HP:0002311HP:0002359Frequent falls1B4GALNT1 CL E G H25834117OMIM:609195Spastic paraplegia 26, autosomal recessive.25
HP:0002311HP:0002370Poor coordination1BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1.114
HP:0002311HP:0002359Frequent falls1BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0002311HP:0002312Clumsiness1BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040283 - Occasional53
HP:0002311HP:0002359Frequent falls1C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegenerationHP:0040282 - Frequent114
HP:0002311HP:0002312Clumsiness1CAPN3 CL E G H8251480OMIM:253600Muscular dystrophy, limb-girdle, type 2A.323
HP:0002311HP:0002370Poor coordination1CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0002311HP:0002312Clumsiness1CAV3 CL E G H8591529ORPHA:488650Distal myopathy, Tateyama typeHP:0040283 - Occasional148
HP:0002311HP:0002370Poor coordination1CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 1.4
HP:0002311HP:0002359Frequent falls1CCDC78 CL E G H12409314153OMIM:614807Myopathy, centronuclear, 425
HP:0002311HP:0002370Poor coordination1CDC42BPB CL E G H95781738OMIM:619841
HP:0002311HP:0002359Frequent falls1CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 735
HP:0002311HP:0002312Clumsiness1CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0002311HP:0002359Frequent falls1CHP1 CL E G H1126117433OMIM:618438Spastic ataxia 9, autosomal recessive.
HP:0002311HP:0002312Clumsiness1CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040283 - Occasional9
HP:0002311HP:0002312Clumsiness1CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040283 - Occasional27
HP:0002311HP:0002312Clumsiness1CLN5 CL E G H12032076OMIM:256731Ceroid lipofuscinosis, neuronal, 5.141
HP:0002311HP:0002312Clumsiness1CLN5 CL E G H12032076ORPHA:228360CLN5 diseaseHP:0040282 - Frequent141
HP:0002311HP:0002312Clumsiness1CLN8 CL E G H20552079OMIM:610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant.111
HP:0002311HP:0002312Clumsiness1CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040282 - Frequent111
HP:0002311HP:0002359Frequent falls1CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040283 - Occasional111
HP:0002311HP:0002312Clumsiness1CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0002311HP:0002359Frequent falls1COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent65
HP:0002311HP:0002359Frequent falls1COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent442
HP:0002311HP:0002359Frequent falls1COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent478
HP:0002311HP:0002359Frequent falls1COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent702
HP:0002311HP:0002359Frequent falls1COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040284 - Very rare90
HP:0002311HP:0002359Frequent falls1COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040282 - Frequent54
HP:0002311HP:0002359Frequent falls1COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040282 - Frequent54
HP:0002311HP:0002359Frequent falls1COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0002311HP:0002312Clumsiness1CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional1
HP:0002311HP:0002370Poor coordination1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0002311HP:0002359Frequent falls1CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent
HP:0002311HP:0002359Frequent falls1CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiencyHP:0040282 - Frequent9
HP:0002311HP:0002312Clumsiness1CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiencyHP:0040282 - Frequent9
HP:0002311HP:0002312Clumsiness1CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0002311HP:0002359Frequent falls1CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0002311HP:0002359Frequent falls1DAB1 CL E G H16002661OMIM:615945Spinocerebellar ataxia 37.4
HP:0002311HP:0002312Clumsiness1DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040282 - Frequent60
HP:0002311HP:0002312Clumsiness1DCC CL E G H16302701ORPHA:238722Familial congenital mirror movementsHP:0040282 - Frequent36
HP:0002311HP:0002312Clumsiness1DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndromeHP:0040283 - Occasional33
HP:0002311HP:0002359Frequent falls1DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0002311HP:0002312Clumsiness1DNAL4 CL E G H101262955ORPHA:238722Familial congenital mirror movementsHP:0040282 - Frequent2
HP:0002311HP:0002359Frequent falls1DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional38
HP:0002311HP:0002359Frequent falls1DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040283 - Occasional65
HP:0002311HP:0002359Frequent falls1DYNC1H1 CL E G H17782961OMIM:614228Charcot-marie-tooth disease, axonal, type 2O.427
HP:0002311HP:0002370Poor coordination1EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome.4
HP:0002311HP:0002359Frequent falls1EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0002311HP:0002370Poor coordination1ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome.172
HP:0002311HP:0002370Poor coordination1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0002311HP:0002370Poor coordination1ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome.158
HP:0002311HP:0002359Frequent falls1FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 35HP:0040282 - Frequent76
HP:0002311HP:0002359Frequent falls1FHL1 CL E G H22733702OMIM:300718Myopathy, reducing body, X-linked, childhood-onset.68
HP:0002311HP:0002359Frequent falls1FIG4 CL E G H989616873OMIM:611228Charcot-Marie-Tooth disease, type 4J.111
HP:0002311HP:0002359Frequent falls1FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent157
HP:0002311HP:0002359Frequent falls1FKRP CL E G H7914717997ORPHA:34515FKRP-related limb-girdle muscular dystrophy R9HP:0040283 - Occasional157
HP:0002311HP:0002359Frequent falls1FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0002311HP:0002359Frequent falls1FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5.157
HP:0002311HP:0002359Frequent falls1FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent184
HP:0002311HP:0002312Clumsiness1FRRS1L CL E G H237321362ORPHA:725Continuous spikes and waves during sleepHP:0040283 - Occasional4
HP:0002311HP:0002312Clumsiness1GALC CL E G H25814115ORPHA:206448Adult Krabbe diseaseHP:0040283 - Occasional160
HP:0002311HP:0002359Frequent falls1GALC CL E G H25814115ORPHA:206448Adult Krabbe diseaseHP:0040283 - Occasional160
HP:0002311HP:0002359Frequent falls1GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040282 - Frequent160
HP:0002311HP:0002312Clumsiness1GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040282 - Frequent160
HP:0002311HP:0002312Clumsiness1GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040283 - Occasional351
HP:0002311HP:0002359Frequent falls1GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent
HP:0002311HP:0002359Frequent falls1GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0002311HP:0002359Frequent falls1GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0002311HP:0002359Frequent falls1GDAP2 CL E G H5483418010OMIM:618369Spinocerebellar ataxia, autosomal recessive 27.
HP:0002311HP:0002359Frequent falls1GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional128
HP:0002311HP:0002359Frequent falls1GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent8
HP:0002311HP:0002359Frequent falls1GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0002311HP:0002312Clumsiness1GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxiaHP:0040282 - Frequent107
HP:0002311HP:0002359Frequent falls1GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxiaHP:0040282 - Frequent107
HP:0002311HP:0002359Frequent falls1GLRA1 CL E G H27414326OMIM:149400Hyperekplexia 1.63
HP:0002311HP:0002359Frequent falls1GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional34
HP:0002311HP:0002359Frequent falls1GPHN CL E G H1024315465OMIM:149400Hyperekplexia 1.18
HP:0002311HP:0002312Clumsiness1GRIN2A CL E G H29034585ORPHA:725Continuous spikes and waves during sleepHP:0040283 - Occasional434
HP:0002311HP:0002359Frequent falls1GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndromeHP:0040283 - Occasional434
HP:0002311HP:0002359Frequent falls1GRM1 CL E G H29114593OMIM:617691SPINOCEREBELLAR ATAXIA 44; SCA448
HP:0002311HP:0002359Frequent falls1HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040283 - Occasional99
HP:0002311HP:0002359Frequent falls1HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040283 - Occasional60
HP:0002311HP:0002312Clumsiness1HAX1 CL E G H1045616915OMIM:610738NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN332
HP:0002311HP:0002312Clumsiness1HEPACAM CL E G H22029626361OMIM:613926Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation.82
HP:0002311HP:0002359Frequent falls1HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040282 - Frequent12
HP:0002311HP:0002370Poor coordination1HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040283 - Occasional19
HP:0002311HP:0002312Clumsiness1HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040282 - Frequent12
HP:0002311HP:0002370Poor coordination1HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type.98
HP:0002311HP:0002359Frequent falls1ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type19
HP:0002311HP:0002312Clumsiness1KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent80
HP:0002311HP:0002312Clumsiness1KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1HP:0040282 - Frequent145
HP:0002311HP:0002370Poor coordination1KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1HP:0040281 - Very frequent145
HP:0002311HP:0002312Clumsiness1KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040283 - Occasional17
HP:0002311HP:0002370Poor coordination1KCND3 CL E G H37526239ORPHA:98772Spinocerebellar ataxia type 19/22HP:0040283 - Occasional35
HP:0002311HP:0002312Clumsiness1KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0002311HP:0002359Frequent falls1KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040282 - Frequent38
HP:0002311HP:0002359Frequent falls1KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive.38
HP:0002311HP:0002312Clumsiness1KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent13
HP:0002311HP:0002359Frequent falls1LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040284 - Very rare92
HP:0002311HP:0002359Frequent falls1LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent221
HP:0002311HP:0002370Poor coordination1LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0002311HP:0002312Clumsiness1MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult formHP:0040283 - Occasional136
HP:0002311HP:0002312Clumsiness1MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040283 - Occasional136
HP:0002311HP:0002359Frequent falls1MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040282 - Frequent140
HP:0002311HP:0002312Clumsiness1MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndromeHP:0040283 - Occasional140
HP:0002311HP:0002312Clumsiness1MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities6
HP:0002311HP:0002359Frequent falls1MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040282 - Frequent203
HP:0002311HP:0002359Frequent falls1MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0002311HP:0002312Clumsiness1MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0002311HP:0002370Poor coordination1MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome.1
HP:0002311HP:0002312Clumsiness1MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0002311HP:0002312Clumsiness1MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent134
HP:0002311HP:0002359Frequent falls1MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndromeHP:0040283 - Occasional134
HP:0002311HP:0002359Frequent falls1MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040283 - Occasional532
HP:0002311HP:0002359Frequent falls1MRE11 CL E G H43617230OMIM:604391Ataxia-Telangiectasia-Like disorder 1.532
HP:0002311HP:0002359Frequent falls1MTPAP CL E G H5514925532ORPHA:254343Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndromeHP:0040282 - Frequent19
HP:0002311HP:0002370Poor coordination1MTR CL E G H45487468OMIM:250940Homocystinuria-megaloblastic anemia, cblg Complementation type.217
HP:0002311HP:0002359Frequent falls1MYPN CL E G H8466523246ORPHA:171881Cap myopathyHP:0040283 - Occasional217
HP:0002311HP:0002312Clumsiness1MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent217
HP:0002311HP:0002370Poor coordination1NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0002311HP:0002312Clumsiness1NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent745
HP:0002311HP:0002359Frequent falls1NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0002311HP:0002359Frequent falls1NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CC.24
HP:0002311HP:0002359Frequent falls1NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0002311HP:0002370Poor coordination1NIPA1 CL E G H12360617043ORPHA:26118315q11.2 microdeletion syndromeHP:0040283 - Occasional117
HP:0002311HP:0002370Poor coordination1NIPA2 CL E G H8161417044ORPHA:26118315q11.2 microdeletion syndromeHP:0040283 - Occasional1
HP:0002311HP:0002312Clumsiness1NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040283 - Occasional51
HP:0002311HP:0002359Frequent falls1NKX2-1 CL E G H708011825OMIM:118700Chorea, benign hereditary51
HP:0002311HP:0002359Frequent falls1NOL3 CL E G H89967869OMIM:614937Myoclonus, familial cortical.1
HP:0002311HP:0002312Clumsiness1NR4A2 CL E G H49297981OMIM:61991127
HP:0002311HP:0002370Poor coordination1NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040283 - Occasional544
HP:0002311HP:0002370Poor coordination1NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0002311HP:0002312Clumsiness1NTN1 CL E G H94238029ORPHA:238722Familial congenital mirror movementsHP:0040282 - Frequent
HP:0002311HP:0002359Frequent falls1NUDT2 CL E G H3188049OMIM:619844
HP:0002311HP:0002359Frequent falls1NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional7
HP:0002311HP:0002359Frequent falls1OPA1 CL E G H49768140OMIM:210000Behr syndrome214
HP:0002311HP:0002312Clumsiness1PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0002311HP:0002312Clumsiness1PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040284 - Very rare55
HP:0002311HP:0002359Frequent falls1PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040284 - Very rare55
HP:0002311HP:0002359Frequent falls1PANK2 CL E G H8002515894ORPHA:216866Classic pantothenate kinase-associated neurodegenerationHP:0040282 - Frequent55
HP:0002311HP:0002359Frequent falls1PDE10A CL E G H108468772OMIM:616921Dyskinesia, limb and orofacial, infantile-onset.5
HP:0002311HP:0002359Frequent falls1PDE10A CL E G H108468772ORPHA:494526Infantile-onset generalized dyskinesia with orofacial involvementHP:0040282 - Frequent5
HP:0002311HP:0002370Poor coordination1PDE2A CL E G H51388777OMIM:619150INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0002311HP:0002359Frequent falls1PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0002311HP:0002359Frequent falls1PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0002311HP:0002359Frequent falls1PI4KA CL E G H52978983OMIM:619621SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG8411
HP:0002311HP:0002359Frequent falls1PIK3R5 CL E G H2353330035OMIM:615217Ataxia-Oculomotor apraxia 3.11
HP:0002311HP:0002312Clumsiness1PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonismHP:0040282 - Frequent133
HP:0002311HP:0002312Clumsiness1PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive.133
HP:0002311HP:0002359Frequent falls1PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040282 - Frequent759
HP:0002311HP:0002359Frequent falls1PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G.1
HP:0002311HP:0002359Frequent falls1PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndromeHP:0040283 - Occasional79
HP:0002311HP:0002312Clumsiness1PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent79
HP:0002311HP:0002359Frequent falls1POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0002311HP:0002359Frequent falls1POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0002311HP:0002359Frequent falls1POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0002311HP:0002312Clumsiness1POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040282 - Frequent138
HP:0002311HP:0002359Frequent falls1POLR3B CL E G H5570330348OMIM:619742CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I67
HP:0002311HP:0002359Frequent falls1POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent213
HP:0002311HP:0002359Frequent falls1PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040283 - Occasional69
HP:0002311HP:0002312Clumsiness1PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040283 - Occasional69
HP:0002311HP:0002312Clumsiness1PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0002311HP:0002359Frequent falls1PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent81
HP:0002311HP:0002312Clumsiness1PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent81
HP:0002311HP:0002312Clumsiness1PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent81
HP:0002311HP:0002359Frequent falls1PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent81
HP:0002311HP:0002312Clumsiness1PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent81
HP:0002311HP:0002359Frequent falls1PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent81
HP:0002311HP:0002359Frequent falls1PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0002311HP:0002312Clumsiness1RAD51 CL E G H58889817ORPHA:238722Familial congenital mirror movementsHP:0040282 - Frequent9
HP:0002311HP:0002359Frequent falls1REEP1 CL E G H6505525786OMIM:62001187
HP:0002311HP:0002312Clumsiness1RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome.5
HP:0002311HP:0002370Poor coordination1RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndrome7
HP:0002311HP:0002312Clumsiness1RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndromeHP:0040283 - Occasional7
HP:0002311HP:0002359Frequent falls1RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutationHP:0040282 - Frequent
HP:0002311HP:0002359Frequent falls1RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0002311HP:0002359Frequent falls1RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0002311HP:0002359Frequent falls1SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defectHP:0040282 - Frequent40
HP:0002311HP:0002312Clumsiness1SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defectHP:0040282 - Frequent40
HP:0002311HP:0002359Frequent falls1SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeHP:0040282 - Frequent5
HP:0002311HP:0002359Frequent falls1SCYL1 CL E G H5741014372OMIM:616719Spinocerebellar ataxia, autosomal recessive 21.5
HP:0002311HP:0002359Frequent falls1SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional304
HP:0002311HP:0002312Clumsiness1SDHA CL E G H638910680OMIM:619259NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA304
HP:0002311HP:0002359Frequent falls1SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional16
HP:0002311HP:0002359Frequent falls1SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional237
HP:0002311HP:0002359Frequent falls1SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional129
HP:0002311HP:0002370Poor coordination1SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040283 - Occasional60
HP:0002311HP:0002359Frequent falls1SGCA CL E G H644210805ORPHA:62Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3HP:0040282 - Frequent132
HP:0002311HP:0002359Frequent falls1SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5HP:0040282 - Frequent83
HP:0002311HP:0002359Frequent falls1SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040282 - Frequent493
HP:0002311HP:0002370Poor coordination1SIM1 CL E G H649210882ORPHA:1718296q16 microdeletion syndromeHP:0040283 - Occasional40
HP:0002311HP:0002359Frequent falls1SLC12A6 CL E G H999010914OMIM:620068163
HP:0002311HP:0002359Frequent falls1SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0002311HP:0002312Clumsiness1SLC22A5 CL E G H658410969ORPHA:158Systemic primary carnitine deficiencyHP:0040281 - Very frequent207
HP:0002311HP:0002359Frequent falls1SLC25A1 CL E G H657610979OMIM:618197Myasthenic syndrome, congenital, 23, presynaptic.28
HP:0002311HP:0002370Poor coordination1SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.88
HP:0002311HP:0002370Poor coordination1SLC25A15 CL E G H1016610985ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeHP:0040282 - Frequent88
HP:0002311HP:0002359Frequent falls1SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0002311HP:0002312Clumsiness1SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040282 - Frequent1
HP:0002311HP:0002312Clumsiness1SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0002311HP:0002312Clumsiness1SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 2.47
HP:0002311HP:0002312Clumsiness1SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 1.51
HP:0002311HP:0002370Poor coordination1SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked122
HP:0002311HP:0002359Frequent falls1SMG9 CL E G H5600625763OMIM:6199952
HP:0002311HP:0002359Frequent falls1SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent65
HP:0002311HP:0002312Clumsiness1SNRPN CL E G H663811164OMIM:105830Angelman syndromeHP:0040281 - Very frequent37
HP:0002311HP:0002359Frequent falls1SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0002311HP:0002312Clumsiness1SQSTM1 CL E G H887811280ORPHA:603Distal myopathy, Welander typeHP:0040282 - Frequent62
HP:0002311HP:0002359Frequent falls1STIM1 CL E G H678611386OMIM:160565Myopathy, tubular aggregate, 1.31
HP:0002311HP:0002312Clumsiness1SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce typeHP:0040283 - Occasional1129
HP:0002311HP:0002370Poor coordination1SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathyHP:0040282 - Frequent108
HP:0002311HP:0002359Frequent falls1TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonismHP:0040283 - Occasional21
HP:0002311HP:0002370Poor coordination1TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0002311HP:0002370Poor coordination1TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11.
HP:0002311HP:0002312Clumsiness1TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional271
HP:0002311HP:0002370Poor coordination1TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities.1
HP:0002311HP:0002312Clumsiness1TIA1 CL E G H707211802ORPHA:603Distal myopathy, Welander typeHP:0040282 - Frequent5
HP:0002311HP:0002359Frequent falls1TPM2 CL E G H716912011ORPHA:171881Cap myopathyHP:0040283 - Occasional54
HP:0002311HP:0002312Clumsiness1TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent54
HP:0002311HP:0002359Frequent falls1TPM3 CL E G H717012012ORPHA:171881Cap myopathyHP:0040283 - Occasional108
HP:0002311HP:0002312Clumsiness1TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent108
HP:0002311HP:0002312Clumsiness1TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxiaHP:0040282 - Frequent203
HP:0002311HP:0002312Clumsiness1TPP1 CL E G H12002073OMIM:609270Spinocerebellar ataxia, autosomal recessive 7.203
HP:0002311HP:0002359Frequent falls1TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040283 - Occasional
HP:0002311HP:0002312Clumsiness1TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiencyHP:0040283 - Occasional9
HP:0002311HP:0002359Frequent falls1TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0002311HP:0002312Clumsiness1TTN CL E G H727312403ORPHA:609Tibial muscular dystrophyHP:0040283 - Occasional7128
HP:0002311HP:0002312Clumsiness1TTPA CL E G H727412404OMIM:277460VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF62
HP:0002311HP:0002370Poor coordination1TUBG1 CL E G H728312417ORPHA:26118315q11.2 microdeletion syndromeHP:0040283 - Occasional14
HP:0002311HP:0002359Frequent falls1TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional113
HP:0002311HP:0002312Clumsiness1TWNK CL E G H566521160OMIM:271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type).113
HP:0002311HP:0002359Frequent falls1TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0002311HP:0002370Poor coordination1TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 29HP:0040281 - Very frequent1
HP:0002311HP:0002312Clumsiness1UBE3A CL E G H733712496OMIM:105830Angelman syndromeHP:0040281 - Very frequent278
HP:0002311HP:0002359Frequent falls1VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040282 - Frequent63
HP:0002311HP:0002359Frequent falls1VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040283 - Occasional63
HP:0002311HP:0002359Frequent falls1VPS13D CL E G H5518723595OMIM:607317Spinocerebellar ataxia, autosomal recessive 4.
HP:0002311HP:0002359Frequent falls1VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent37
HP:0002311HP:0002359Frequent falls1VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0002311HP:0002370Poor coordination1YWHAG CL E G H753212852OMIM:617665Epileptic encephalopathy, early infantile, 56.
HP:0002311HP:0007057Poor hand-eye coordination2RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndromeHP:0040283 - Occasional7
HP:0002311HP:0007057Poor hand-eye coordination2SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122


Genes (256) :AASS ABCA2 ABCD1 ACOX1 ACTA1 ADAR ADCY5 ADGRV1 ADSS1 AFF2 ALG13 ALG14 ALG2 ALMS1 APC2 ARG1 ARHGEF2 ARL6 ARSA ASAH1 ATL1 ATP1A3 ATP2B3 ATP6 ATP6AP2 ATP7B ATXN10 ATXN3 ATXN8 ATXN8OS B4GALNT1 BBS1 BSCL2 BSND C19ORF12 CACNA1A CAPN3 CARS1 CAV3 CCDC28B CCDC78 CDC42BPB CFL2 CHAMP1 CHD8 CHP1 CLCNKA CLCNKB CLN5 CLN8 CLTC COL12A1 COL6A1 COL6A2 COL6A3 COLQ COQ2 COX20 CPLX1 CREBBP CRPPA CWF19L1 DAB1 DARS2 DCC DEAF1 DNAJC13 DNAL4 DPAGT1 DYM DYNC1H1 DYRK1A EED EEF1A2 EEF2 EIF4G1 ELN ELP1 EP300 ERCC4 FA2H FHL1 FIG4 FKRP FKTN FRRS1L GABRA1 GABRD GABRG2 GALC GALT GBA1 GCH1 GDAP1 GDAP2 GFPT1 GIGYF2 GJB1 GLRA1 GMPPB GPHN GRID2 GRIN2A GRM1 HADHA HADHB HAX1 HCN1 HEPACAM HEXB HINT1 HLA-DQB1 HLA-DRB1 HSD17B10 HTT HUWE1 ISCU KBTBD13 KCNA1 KCNC3 KCND3 KDM4B KIF1C KLHL41 LAMB2 LMBRD1 LRRK2 LYST LZTFL1 MAN2B1 MAPT MECR MED13L MFN2 MICU1 MLXIPL MORC2 MPZ MRE11 MTFMT MTHFR MTPAP MTR MYPN NAA20 NEB NEFH NEFL NIPA1 NIPA2 NKX2-1 NOL3 NOP56 NR4A2 NSD1 NTN1 NUDT2 NUP62 OPA1 PAK3 PANK2 PCDH19 PDCD1 PDE10A PDE2A PEX1 PEX16 PI4KA PIK3R5 PLA2G6 PLEC PMP2 PMP22 PMPCA POGZ POLG POLG2 POLR3A POLR3B POMT1 PRNP PSAP PYROXD1 RAD51 RDH11 REEP1 RNF125 RNF168 RNU12 RORA RPIA RPL10 RRM2B SCN1A SCN1B SCN2A SCN9A SCO2 SCYL1 SDHA SDHAF1 SDHB SDHD SET SETD2 SGCA SGCG SH3TC2 SIM1 SLC12A6 SLC18A2 SLC19A3 SLC22A5 SLC25A1 SLC25A15 SLC25A4 SLC2A3 SLC39A14 SLC52A2 SLC52A3 SLC6A8 SMG9 SNCA SNRPN SPTBN2 SPTLC1 SQSTM1 STIM1 STX1B SYNE1 SYNGAP1 TAF1 TANGO2 TBC1D23 TBC1D24 TCF20 TCF4 TGM6 TIA1 TPM2 TPM3 TPP1 TRNE TSHB TTC19 TTN TTPA TUBG1 TWNK TXN2 UBE3A VCP VPS13D VPS35 VWA1 YWHAG

Diseases (233) :ORPHA:2203 OMIM:618808 OMIM:300100 OMIM:618960 ORPHA:171439 OMIM:161800 ORPHA:225154 OMIM:619647 ORPHA:36387 ORPHA:482601 ORPHA:100973 OMIM:309548 ORPHA:324422 ORPHA:353327 OMIM:616227 ORPHA:64 ORPHA:821 OMIM:207800 OMIM:617523 OMIM:209900 ORPHA:309271 ORPHA:309263 ORPHA:309256 OMIM:159950 ORPHA:2590 ORPHA:100984 OMIM:601338 ORPHA:314978 ORPHA:93952 ORPHA:905 OMIM:603516 ORPHA:276238 ORPHA:276241 ORPHA:276244 OMIM:608768 OMIM:609195 OMIM:619112 ORPHA:89938 ORPHA:289560 ORPHA:98758 OMIM:253600 OMIM:618891 ORPHA:488650 OMIM:614807 OMIM:619841 OMIM:610687 OMIM:616579 OMIM:615032 OMIM:618438 OMIM:256731 ORPHA:228360 OMIM:610003 ORPHA:1947 OMIM:617854 ORPHA:75840 ORPHA:98915 ORPHA:227510 ORPHA:98933 OMIM:619054 ORPHA:352582 OMIM:180849 ORPHA:370980 ORPHA:453521 OMIM:616127 OMIM:615945 ORPHA:137898 ORPHA:238722 ORPHA:468620 ORPHA:411602 ORPHA:239 OMIM:614228 OMIM:614104 OMIM:617561 OMIM:616409 OMIM:609306 OMIM:194050 OMIM:223900 OMIM:610965 ORPHA:171629 OMIM:300718 OMIM:611228 ORPHA:34515 OMIM:606612 OMIM:607155 ORPHA:725 ORPHA:33069 ORPHA:206448 ORPHA:206443 ORPHA:79239 OMIM:128230 ORPHA:101097 ORPHA:99948 OMIM:618369 OMIM:302800 ORPHA:1175 OMIM:149400 OMIM:616204 ORPHA:98818 OMIM:617691 ORPHA:746 OMIM:610738 OMIM:613926 ORPHA:309162 ORPHA:324442 OMIM:126200 ORPHA:391428 ORPHA:399 OMIM:309590 OMIM:255125 ORPHA:37612 OMIM:160120 ORPHA:98768 ORPHA:98772 OMIM:619320 ORPHA:397946 OMIM:611302 OMIM:277380 ORPHA:352723 OMIM:615994 ORPHA:309288 ORPHA:309282 ORPHA:240103 ORPHA:240112 OMIM:617282 ORPHA:369891 ORPHA:99947 OMIM:615673 OMIM:616688 ORPHA:3115 ORPHA:251347 OMIM:604391 OMIM:614947 OMIM:236250 ORPHA:254343 OMIM:250940 ORPHA:171881 OMIM:619717 OMIM:256030 OMIM:616924 OMIM:607684 ORPHA:261183 ORPHA:209905 OMIM:118700 OMIM:614937 OMIM:614153 OMIM:619911 OMIM:117550 OMIM:619844 OMIM:210000 OMIM:300558 ORPHA:216873 ORPHA:216866 OMIM:616921 ORPHA:494526 OMIM:619150 OMIM:214100 OMIM:614877 OMIM:619621 OMIM:615217 ORPHA:199351 OMIM:612953 ORPHA:254361 OMIM:618279 OMIM:213200 ORPHA:468678 ORPHA:254892 OMIM:607459 ORPHA:447896 OMIM:619742 OMIM:603218 ORPHA:157941 ORPHA:282166 OMIM:617258 ORPHA:436245 OMIM:620011 OMIM:616260 ORPHA:420741 ORPHA:512260 OMIM:618060 OMIM:608611 OMIM:300998 ORPHA:521411 ORPHA:466794 OMIM:616719 ORPHA:3208 OMIM:619259 OMIM:618106 ORPHA:62 ORPHA:353 ORPHA:99949 ORPHA:171829 OMIM:620068 OMIM:618049 OMIM:607483 ORPHA:158 OMIM:618197 ORPHA:415 OMIM:238970 OMIM:617013 OMIM:614707 OMIM:211530 OMIM:300352 OMIM:619995 OMIM:105830 OMIM:600224 ORPHA:98766 OMIM:162400 ORPHA:603 OMIM:160565 ORPHA:88644 ORPHA:544254 ORPHA:53351 OMIM:616878 ORPHA:480864 OMIM:617695 OMIM:618430 OMIM:610954 OMIM:613908 ORPHA:284324 OMIM:609270 ORPHA:2596 ORPHA:90674 OMIM:615157 OMIM:603689 ORPHA:609 OMIM:277460 OMIM:271245 ORPHA:478029 ORPHA:329478 ORPHA:435387 OMIM:607317 OMIM:619216 OMIM:617665
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.