Human Phenotype Ontology 
Grandparent Node:
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Behavioral abnormality (HP:0000708)help
Parent Node:
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Impairment in personality functioning (HP:0031466)help
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Disinhibition (HP:0000734)help
Term ID: 734
Name: Disinhibition
Synonym: Disinhibition
Definition: A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment.
Comments:
Reference: HP:0000734
Genes and Diseases:
 
       Child Nodes:
........expandRisk taking (HP:0031472) help
........expandImpulsivity (HP:0100710) help

 Sister Nodes: 
..expandAbnormal fear/anxiety-related behavior (HP:0100852) help
..expandAnhedonia (HP:0012154) help
..expandBipolar affective disorder (HP:0007302) help
..expandDepression (HP:0000716) help
..expandEmotional lability (HP:0000712) help
..expandHostility (HP:0031473) help
..expandInappropriate behavior (HP:0000719) help
..expandLow self esteem (HP:0031469) help
..expandNegative affectivity (HP:0031467) help
..expandPersonality disorder (HP:0012075) help
..expandSeparation insecurity (HP:0031468) 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:0000734HP:0000734Disinhibition0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000734HP:0000734Disinhibition0ABCA7 CL E G H1034737OMIM:608907Alzheimer disease 9, susceptibility to.3
HP:0000734HP:0000734Disinhibition0ABCA7 CL E G H1034737ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040282 - Frequent3
HP:0000734HP:0000734Disinhibition0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathy2
HP:0000734HP:0000734Disinhibition0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndrome9
HP:0000734HP:0000734Disinhibition0AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disability59
HP:0000734HP:0000734Disinhibition0AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe59
HP:0000734HP:0000734Disinhibition0AMT CL E G H275473OMIM:605899Glycine encephalopathy56
HP:0000734HP:0000734Disinhibition0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathy7
HP:0000734HP:0000734Disinhibition0APP CL E G H351620ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040282 - Frequent74
HP:0000734HP:0000734Disinhibition0ARPC4 CL E G H10093707OMIM:620141
HP:0000734HP:0000734Disinhibition0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0000734HP:0000734Disinhibition0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhood239
HP:0000734HP:0000734Disinhibition0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathy239
HP:0000734HP:0000734Disinhibition0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhood150
HP:0000734HP:0000734Disinhibition0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathy150
HP:0000734HP:0000734Disinhibition0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0000734HP:0000734Disinhibition0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome17
HP:0000734HP:0000734Disinhibition0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4114
HP:0000734HP:0000734Disinhibition0C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent56
HP:0000734HP:0000734Disinhibition0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional56
HP:0000734HP:0000734Disinhibition0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhood449
HP:0000734HP:0000734Disinhibition0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathy449
HP:0000734HP:0000734Disinhibition0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathy5
HP:0000734HP:0000734Disinhibition0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathy59
HP:0000734HP:0000734Disinhibition0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000734HP:0000734Disinhibition0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000734HP:0000734Disinhibition0CDON CL E G H5093717104ORPHA:280195Septopreoptic holoprosencephaly200
HP:0000734HP:0000734Disinhibition0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000734HP:0000734Disinhibition0CEP152 CL E G H2299529298OMIM:614852Microcephaly 9, primary, autosomal recessive146
HP:0000734HP:0000734Disinhibition0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional11
HP:0000734HP:0000734Disinhibition0CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent42
HP:0000734HP:0000734Disinhibition0CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 7.42
HP:0000734HP:0000734Disinhibition0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0000734HP:0000734Disinhibition0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0000734HP:0000734Disinhibition0CNKSR2 CL E G H2286619701OMIM:301008MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG18
HP:0000734HP:0000734Disinhibition0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathy18
HP:0000734HP:0000734Disinhibition0COQ5 CL E G H8427428722OMIM:619028COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0000734HP:0000734Disinhibition0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000734HP:0000734Disinhibition0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletion291
HP:0000734HP:0000734Disinhibition0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutations291
HP:0000734HP:0000734Disinhibition0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0000734HP:0000734Disinhibition0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000734HP:0000734Disinhibition0DCTN1 CL E G H16392711OMIM:168605Perry syndrome86
HP:0000734HP:0000734Disinhibition0DEPDC5 CL E G H968118423ORPHA:101046Autosomal dominant epilepsy with auditory features172
HP:0000734HP:0000734Disinhibition0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathy47
HP:0000734HP:0000734Disinhibition0DISP1 CL E G H8497619711ORPHA:280195Septopreoptic holoprosencephaly22
HP:0000734HP:0000734Disinhibition0DLL1 CL E G H285142908ORPHA:280195Septopreoptic holoprosencephaly3
HP:0000734HP:0000734Disinhibition0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0000734HP:0000734Disinhibition0DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson disease6
HP:0000734HP:0000734Disinhibition0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathy72
HP:0000734HP:0000734Disinhibition0DNMT1 CL E G H17862976OMIM:614116Neuropathy, hereditary sensory, type IE145
HP:0000734HP:0000734Disinhibition0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000734HP:0000734Disinhibition0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathy60
HP:0000734HP:0000734Disinhibition0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0000734HP:0000734Disinhibition0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000734HP:0000734Disinhibition0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiency250
HP:0000734HP:0000734Disinhibition0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000734HP:0000734Disinhibition0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0000734HP:0000734Disinhibition0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0000734HP:0000734Disinhibition0FGF8 CL E G H22533686ORPHA:280195Septopreoptic holoprosencephaly17
HP:0000734HP:0000734Disinhibition0FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome.30
HP:0000734HP:0000734Disinhibition0FOXH1 CL E G H89283814ORPHA:280195Septopreoptic holoprosencephaly48
HP:0000734HP:0000734Disinhibition0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 3.33
HP:0000734HP:0000734Disinhibition0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional105
HP:0000734HP:0000734Disinhibition0FUZ CL E G H8019926219ORPHA:3027Caudal regression sequence3
HP:0000734HP:0000734Disinhibition0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000734HP:0000734Disinhibition0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathy5
HP:0000734HP:0000734Disinhibition0GABRA1 CL E G H25544075ORPHA:33069Dravet syndrome134
HP:0000734HP:0000734Disinhibition0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathy4
HP:0000734HP:0000734Disinhibition0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000734HP:0000734Disinhibition0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathy44
HP:0000734HP:0000734Disinhibition0GABRB3 CL E G H25624083OMIM:617113Epileptic encephalopathy, early infantile, 4357
HP:0000734HP:0000734Disinhibition0GABRG2 CL E G H25664087ORPHA:33069Dravet syndrome139
HP:0000734HP:0000734Disinhibition0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathy139
HP:0000734HP:0000734Disinhibition0GAS1 CL E G H26194165ORPHA:280195Septopreoptic holoprosencephaly2
HP:0000734HP:0000734Disinhibition0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson disease
HP:0000734HP:0000734Disinhibition0GCSH CL E G H26534208OMIM:605899Glycine encephalopathy5
HP:0000734HP:0000734Disinhibition0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson disease8
HP:0000734HP:0000734Disinhibition0GLDC CL E G H27314313OMIM:605899Glycine encephalopathy166
HP:0000734HP:0000734Disinhibition0GLI2 CL E G H27364318ORPHA:280195Septopreoptic holoprosencephaly173
HP:0000734HP:0000734Disinhibition0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000734HP:0000734Disinhibition0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0000734HP:0000734Disinhibition0GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndrome434
HP:0000734HP:0000734Disinhibition0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathy2
HP:0000734HP:0000734Disinhibition0GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent126
HP:0000734HP:0000734Disinhibition0GRN CL E G H28964601OMIM:607485Frontotemporal lobar degeneration with TDP43 inclusions.126
HP:0000734HP:0000734Disinhibition0H4C5 CL E G H83674790OMIM:619950
HP:0000734HP:0000734Disinhibition0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathy54
HP:0000734HP:0000734Disinhibition0HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0000734HP:0000734Disinhibition0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0000734HP:0000734Disinhibition0HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson disease39
HP:0000734HP:0000734Disinhibition0HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040282 - Frequent12
HP:0000734HP:0000734Disinhibition0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0000734HP:0000734Disinhibition0IL1RAPL1 CL E G H111415996OMIM:300143Mental retardation, X-linked 2142
HP:0000734HP:0000734Disinhibition0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0000734HP:0000734Disinhibition0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathy13
HP:0000734HP:0000734Disinhibition0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathy65
HP:0000734HP:0000734Disinhibition0KNL1 CL E G H5708224054OMIM:604321Microcephaly 4, primary, autosomal recessive112
HP:0000734HP:0000734Disinhibition0LGI1 CL E G H92116572ORPHA:101046Autosomal dominant epilepsy with auditory features75
HP:0000734HP:0000734Disinhibition0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson disease221
HP:0000734HP:0000734Disinhibition0LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson disease221
HP:0000734HP:0000734Disinhibition0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndrome63
HP:0000734HP:0000734Disinhibition0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome63
HP:0000734HP:0000734Disinhibition0MAOA CL E G H41286833OMIM:300615Brunner syndrome22
HP:0000734HP:0000734Disinhibition0MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent140
HP:0000734HP:0000734Disinhibition0MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndrome140
HP:0000734HP:0000734Disinhibition0MAPT CL E G H41376893OMIM:600274Frontotemporal dementia.140
HP:0000734HP:0000734Disinhibition0MAPT CL E G H41376893OMIM:172700Pick disease of brain.140
HP:0000734HP:0000734Disinhibition0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000734HP:0000734Disinhibition0NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0000734HP:0000734Disinhibition0NODAL CL E G H48387865ORPHA:280195Septopreoptic holoprosencephaly45
HP:0000734HP:0000734Disinhibition0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0000734HP:0000734Disinhibition0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0000734HP:0000734Disinhibition0NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathy8
HP:0000734HP:0000734Disinhibition0NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0000734HP:0000734Disinhibition0PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegeneration55
HP:0000734HP:0000734Disinhibition0PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson disease23
HP:0000734HP:0000734Disinhibition0PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathy14
HP:0000734HP:0000734Disinhibition0PCDH19 CL E G H5752614270ORPHA:33069Dravet syndrome225
HP:0000734HP:0000734Disinhibition0PCDH19 CL E G H5752614270ORPHA:101039Female restricted epilepsy with intellectual disability225
HP:0000734HP:0000734Disinhibition0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features11
HP:0000734HP:0000734Disinhibition0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0000734HP:0000734Disinhibition0PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson disease55
HP:0000734HP:0000734Disinhibition0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophy133
HP:0000734HP:0000734Disinhibition0PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B133
HP:0000734HP:0000734Disinhibition0PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson disease6
HP:0000734HP:0000734Disinhibition0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0000734HP:0000734Disinhibition0PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathy2
HP:0000734HP:0000734Disinhibition0PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson disease138
HP:0000734HP:0000734Disinhibition0PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent241
HP:0000734HP:0000734Disinhibition0PSEN1 CL E G H56639508ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040282 - Frequent241
HP:0000734HP:0000734Disinhibition0PSEN1 CL E G H56639508OMIM:600274Frontotemporal dementia.241
HP:0000734HP:0000734Disinhibition0PSEN1 CL E G H56639508OMIM:172700Pick disease of brain.241
HP:0000734HP:0000734Disinhibition0PSEN2 CL E G H56649509ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040282 - Frequent59
HP:0000734HP:0000734Disinhibition0PTCH1 CL E G H57279585ORPHA:280195Septopreoptic holoprosencephaly665
HP:0000734HP:0000734Disinhibition0PTCHD1 CL E G H13941126392OMIM:300830Autism, susceptibility to, X-linked 434
HP:0000734HP:0000734Disinhibition0RELN CL E G H56499957ORPHA:101046Autosomal dominant epilepsy with auditory features334
HP:0000734HP:0000734Disinhibition0SCN1A CL E G H632310585ORPHA:33069Dravet syndrome1053
HP:0000734HP:0000734Disinhibition0SCN1B CL E G H632410586ORPHA:33069Dravet syndrome126
HP:0000734HP:0000734Disinhibition0SCN2A CL E G H632610588ORPHA:33069Dravet syndrome427
HP:0000734HP:0000734Disinhibition0SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathy70
HP:0000734HP:0000734Disinhibition0SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathy357
HP:0000734HP:0000734Disinhibition0SCN9A CL E G H633510597ORPHA:33069Dravet syndrome318
HP:0000734HP:0000734Disinhibition0SHH CL E G H646910848ORPHA:280195Septopreoptic holoprosencephaly67
HP:0000734HP:0000734Disinhibition0SIX3 CL E G H649610889ORPHA:280195Septopreoptic holoprosencephaly32
HP:0000734HP:0000734Disinhibition0SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathy73
HP:0000734HP:0000734Disinhibition0SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0000734HP:0000734Disinhibition0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhood63
HP:0000734HP:0000734Disinhibition0SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040282 - Frequent1
HP:0000734HP:0000734Disinhibition0SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000734HP:0000734Disinhibition0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson disease65
HP:0000734HP:0000734Disinhibition0SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson disease65
HP:0000734HP:0000734Disinhibition0SORL1 CL E G H665311185ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040282 - Frequent3
HP:0000734HP:0000734Disinhibition0SPAST CL E G H668311233OMIM:182601Spastic paraplegia 4, autosomal dominant.208
HP:0000734HP:0000734Disinhibition0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000734HP:0000734Disinhibition0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000734HP:0000734Disinhibition0SQSTM1 CL E G H887811280ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent62
HP:0000734HP:0000734Disinhibition0SQSTM1 CL E G H887811280OMIM:616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3.62
HP:0000734HP:0000734Disinhibition0SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional62
HP:0000734HP:0000734Disinhibition0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndrome138
HP:0000734HP:0000734Disinhibition0STIL CL E G H649110879ORPHA:280195Septopreoptic holoprosencephaly99
HP:0000734HP:0000734Disinhibition0SUGCT CL E G H7978316001ORPHA:35706Glutaric acidemia type 38
HP:0000734HP:0000734Disinhibition0SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathy108
HP:0000734HP:0000734Disinhibition0SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathy9
HP:0000734HP:0000734Disinhibition0SYNJ1 CL E G H886711503ORPHA:2828Young-onset Parkinson disease9
HP:0000734HP:0000734Disinhibition0SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathy123
HP:0000734HP:0000734Disinhibition0TARDBP CL E G H2343511571OMIM:612069Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia.65
HP:0000734HP:0000734Disinhibition0TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional65
HP:0000734HP:0000734Disinhibition0TBK1 CL E G H2911011584OMIM:616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4.20
HP:0000734HP:0000734Disinhibition0TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional20
HP:0000734HP:0000734Disinhibition0TDGF1 CL E G H699711701ORPHA:280195Septopreoptic holoprosencephaly1
HP:0000734HP:0000734Disinhibition0TGIF1 CL E G H705011776ORPHA:280195Septopreoptic holoprosencephaly32
HP:0000734HP:0000734Disinhibition0TMEM106B CL E G H5466422407ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent
HP:0000734HP:0000734Disinhibition0TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0000734HP:0000734Disinhibition0TOMM40 CL E G H1045218001ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040282 - Frequent
HP:0000734HP:0000734Disinhibition0TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000734HP:0000734Disinhibition0TREM2 CL E G H5420917761ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent31
HP:0000734HP:0000734Disinhibition0TREM2 CL E G H5420917761ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040282 - Frequent31
HP:0000734HP:0000734Disinhibition0TREM2 CL E G H5420917761ORPHA:2770Nasu-Hakola diseaseHP:0040281 - Very frequent31
HP:0000734HP:0000734Disinhibition0TREM2 CL E G H5420917761OMIM:618193POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL231
HP:0000734HP:0000734Disinhibition0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0000734HP:0000734Disinhibition0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0000734HP:0000734Disinhibition0TYROBP CL E G H730512449ORPHA:2770Nasu-Hakola diseaseHP:0040281 - Very frequent22
HP:0000734HP:0000734Disinhibition0TYROBP CL E G H730512449OMIM:221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.22
HP:0000734HP:0000734Disinhibition0UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathy13
HP:0000734HP:0000734Disinhibition0UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1
HP:0000734HP:0000734Disinhibition0UCHL1 CL E G H734512513ORPHA:2828Young-onset Parkinson disease21
HP:0000734HP:0000734Disinhibition0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndrome2
HP:0000734HP:0000734Disinhibition0VANGL1 CL E G H8183915512ORPHA:3027Caudal regression sequence111
HP:0000734HP:0000734Disinhibition0VCP CL E G H741512666ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent63
HP:0000734HP:0000734Disinhibition0VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional63
HP:0000734HP:0000734Disinhibition0VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS.130
HP:0000734HP:0000734Disinhibition0VPS13C CL E G H5483223594ORPHA:2828Young-onset Parkinson disease8
HP:0000734HP:0000734Disinhibition0VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0000734HP:0000734Disinhibition0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson disease37
HP:0000734HP:0000734Disinhibition0WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations224
HP:0000734HP:0000734Disinhibition0WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathy149
HP:0000734HP:0000734Disinhibition0YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000734HP:0000734Disinhibition0ZIC2 CL E G H754612873ORPHA:280195Septopreoptic holoprosencephaly34
HP:0000734HP:0031472Risk taking1 CL E G H
HP:0000734HP:0100710Impulsivity1AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000734HP:0100710Impulsivity1ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0000734HP:0100710Impulsivity1ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0000734HP:0100710Impulsivity1AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disabilityHP:0040282 - Frequent59
HP:0000734HP:0100710Impulsivity1AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe.59
HP:0000734HP:0100710Impulsivity1AMT CL E G H275473OMIM:605899Glycine encephalopathy.56
HP:0000734HP:0100710Impulsivity1AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional7
HP:0000734HP:0100710Impulsivity1ARPC4 CL E G H10093707OMIM:620141
HP:0000734HP:0100710Impulsivity1ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000734HP:0100710Impulsivity1ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0000734HP:0100710Impulsivity1ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional239
HP:0000734HP:0100710Impulsivity1ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0000734HP:0100710Impulsivity1ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional150
HP:0000734HP:0100710Impulsivity1ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000734HP:0100710Impulsivity1BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome17
HP:0000734HP:0100710Impulsivity1C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.114
HP:0000734HP:0100710Impulsivity1CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0000734HP:0100710Impulsivity1CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional449
HP:0000734HP:0100710Impulsivity1CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0000734HP:0100710Impulsivity1CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional59
HP:0000734HP:0100710Impulsivity1CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000734HP:0100710Impulsivity1CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000734HP:0100710Impulsivity1CDON CL E G H5093717104ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent200
HP:0000734HP:0100710Impulsivity1CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000734HP:0100710Impulsivity1CEP152 CL E G H2299529298OMIM:614852Microcephaly 9, primary, autosomal recessive.146
HP:0000734HP:0100710Impulsivity1CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 56.1
HP:0000734HP:0100710Impulsivity1CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000734HP:0100710Impulsivity1CNKSR2 CL E G H2286619701OMIM:301008MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG18
HP:0000734HP:0100710Impulsivity1CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional18
HP:0000734HP:0100710Impulsivity1COQ5 CL E G H8427428722OMIM:619028COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0000734HP:0100710Impulsivity1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000734HP:0100710Impulsivity1CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040282 - Frequent291
HP:0000734HP:0100710Impulsivity1CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040282 - Frequent291
HP:0000734HP:0100710Impulsivity1CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000734HP:0100710Impulsivity1DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000734HP:0100710Impulsivity1DEPDC5 CL E G H968118423ORPHA:101046Autosomal dominant epilepsy with auditory featuresHP:0040284 - Very rare172
HP:0000734HP:0100710Impulsivity1DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional47
HP:0000734HP:0100710Impulsivity1DISP1 CL E G H8497619711ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent22
HP:0000734HP:0100710Impulsivity1DLL1 CL E G H285142908ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent3
HP:0000734HP:0100710Impulsivity1DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional2
HP:0000734HP:0100710Impulsivity1DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare6
HP:0000734HP:0100710Impulsivity1DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional72
HP:0000734HP:0100710Impulsivity1DNMT1 CL E G H17862976OMIM:614116Neuropathy, hereditary sensory, type IE.145
HP:0000734HP:0100710Impulsivity1DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000734HP:0100710Impulsivity1EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional60
HP:0000734HP:0100710Impulsivity1EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional2
HP:0000734HP:0100710Impulsivity1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000734HP:0100710Impulsivity1EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040282 - Frequent250
HP:0000734HP:0100710Impulsivity1FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000734HP:0100710Impulsivity1FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000734HP:0100710Impulsivity1FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000734HP:0100710Impulsivity1FGF8 CL E G H22533686ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent17
HP:0000734HP:0100710Impulsivity1FOXH1 CL E G H89283814ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent48
HP:0000734HP:0100710Impulsivity1FUZ CL E G H8019926219ORPHA:3027Caudal regression sequenceHP:0040281 - Very frequent3
HP:0000734HP:0100710Impulsivity1FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000734HP:0100710Impulsivity1GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0000734HP:0100710Impulsivity1GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040283 - Occasional134
HP:0000734HP:0100710Impulsivity1GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional4
HP:0000734HP:0100710Impulsivity1GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000734HP:0100710Impulsivity1GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional44
HP:0000734HP:0100710Impulsivity1GABRB3 CL E G H25624083OMIM:617113Epileptic encephalopathy, early infantile, 4357
HP:0000734HP:0100710Impulsivity1GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040283 - Occasional139
HP:0000734HP:0100710Impulsivity1GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional139
HP:0000734HP:0100710Impulsivity1GAS1 CL E G H26194165ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent2
HP:0000734HP:0100710Impulsivity1GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional
HP:0000734HP:0100710Impulsivity1GCSH CL E G H26534208OMIM:605899Glycine encephalopathy.5
HP:0000734HP:0100710Impulsivity1GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional8
HP:0000734HP:0100710Impulsivity1GLDC CL E G H27314313OMIM:605899Glycine encephalopathy.166
HP:0000734HP:0100710Impulsivity1GLI2 CL E G H27364318ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent173
HP:0000734HP:0100710Impulsivity1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000734HP:0100710Impulsivity1GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0000734HP:0100710Impulsivity1GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndromeHP:0040283 - Occasional434
HP:0000734HP:0100710Impulsivity1GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0000734HP:0100710Impulsivity1H4C5 CL E G H83674790OMIM:619950
HP:0000734HP:0100710Impulsivity1HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional54
HP:0000734HP:0100710Impulsivity1HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0000734HP:0100710Impulsivity1HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 43.13
HP:0000734HP:0100710Impulsivity1HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare39
HP:0000734HP:0100710Impulsivity1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0000734HP:0100710Impulsivity1IL1RAPL1 CL E G H111415996OMIM:300143Mental retardation, X-linked 2142
HP:0000734HP:0100710Impulsivity1KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome.283
HP:0000734HP:0100710Impulsivity1KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0000734HP:0100710Impulsivity1KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional65
HP:0000734HP:0100710Impulsivity1KNL1 CL E G H5708224054OMIM:604321Microcephaly 4, primary, autosomal recessive.112
HP:0000734HP:0100710Impulsivity1LGI1 CL E G H92116572ORPHA:101046Autosomal dominant epilepsy with auditory featuresHP:0040284 - Very rare75
HP:0000734HP:0100710Impulsivity1LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional221
HP:0000734HP:0100710Impulsivity1LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare221
HP:0000734HP:0100710Impulsivity1MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040283 - Occasional63
HP:0000734HP:0100710Impulsivity1MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0000734HP:0100710Impulsivity1MAOA CL E G H41286833OMIM:300615Brunner syndrome.22
HP:0000734HP:0100710Impulsivity1MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040282 - Frequent140
HP:0000734HP:0100710Impulsivity1NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000734HP:0100710Impulsivity1NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000734HP:0100710Impulsivity1NODAL CL E G H48387865ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent45
HP:0000734HP:0100710Impulsivity1NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0000734HP:0100710Impulsivity1NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040283 - Occasional97
HP:0000734HP:0100710Impulsivity1NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional8
HP:0000734HP:0100710Impulsivity1NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000734HP:0100710Impulsivity1PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040282 - Frequent55
HP:0000734HP:0100710Impulsivity1PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare23
HP:0000734HP:0100710Impulsivity1PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional14
HP:0000734HP:0100710Impulsivity1PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040283 - Occasional225
HP:0000734HP:0100710Impulsivity1PCDH19 CL E G H5752614270ORPHA:101039Female restricted epilepsy with intellectual disabilityHP:0040283 - Occasional225
HP:0000734HP:0100710Impulsivity1PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features.11
HP:0000734HP:0100710Impulsivity1PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0000734HP:0100710Impulsivity1PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare55
HP:0000734HP:0100710Impulsivity1PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040283 - Occasional133
HP:0000734HP:0100710Impulsivity1PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B.133
HP:0000734HP:0100710Impulsivity1PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare6
HP:0000734HP:0100710Impulsivity1POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0000734HP:0100710Impulsivity1PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0000734HP:0100710Impulsivity1PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare138
HP:0000734HP:0100710Impulsivity1PTCH1 CL E G H57279585ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent665
HP:0000734HP:0100710Impulsivity1PTCHD1 CL E G H13941126392OMIM:300830Autism, susceptibility to, X-linked 4.34
HP:0000734HP:0100710Impulsivity1RELN CL E G H56499957ORPHA:101046Autosomal dominant epilepsy with auditory featuresHP:0040284 - Very rare334
HP:0000734HP:0100710Impulsivity1SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040283 - Occasional1053
HP:0000734HP:0100710Impulsivity1SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040283 - Occasional126
HP:0000734HP:0100710Impulsivity1SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040283 - Occasional427
HP:0000734HP:0100710Impulsivity1SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional70
HP:0000734HP:0100710Impulsivity1SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional357
HP:0000734HP:0100710Impulsivity1SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040283 - Occasional318
HP:0000734HP:0100710Impulsivity1SHH CL E G H646910848ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent67
HP:0000734HP:0100710Impulsivity1SIX3 CL E G H649610889ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent32
HP:0000734HP:0100710Impulsivity1SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional73
HP:0000734HP:0100710Impulsivity1SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000734HP:0100710Impulsivity1SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional63
HP:0000734HP:0100710Impulsivity1SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000734HP:0100710Impulsivity1SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional65
HP:0000734HP:0100710Impulsivity1SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare65
HP:0000734HP:0100710Impulsivity1SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000734HP:0100710Impulsivity1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000734HP:0100710Impulsivity1SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0000734HP:0100710Impulsivity1STIL CL E G H649110879ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent99
HP:0000734HP:0100710Impulsivity1SUGCT CL E G H7978316001ORPHA:35706Glutaric acidemia type 3HP:0040283 - Occasional8
HP:0000734HP:0100710Impulsivity1SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional108
HP:0000734HP:0100710Impulsivity1SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional9
HP:0000734HP:0100710Impulsivity1SYNJ1 CL E G H886711503ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare9
HP:0000734HP:0100710Impulsivity1SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional123
HP:0000734HP:0100710Impulsivity1TDGF1 CL E G H699711701ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent1
HP:0000734HP:0100710Impulsivity1TGIF1 CL E G H705011776ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent32
HP:0000734HP:0100710Impulsivity1TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0000734HP:0100710Impulsivity1TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000734HP:0100710Impulsivity1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0000734HP:0100710Impulsivity1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0000734HP:0100710Impulsivity1UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0000734HP:0100710Impulsivity1UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderHP:0040283 - Occasional1
HP:0000734HP:0100710Impulsivity1UCHL1 CL E G H734512513ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare21
HP:0000734HP:0100710Impulsivity1USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0000734HP:0100710Impulsivity1VANGL1 CL E G H8183915512ORPHA:3027Caudal regression sequenceHP:0040281 - Very frequent111
HP:0000734HP:0100710Impulsivity1VPS13C CL E G H5483223594ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare8
HP:0000734HP:0100710Impulsivity1VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0000734HP:0100710Impulsivity1VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional37
HP:0000734HP:0100710Impulsivity1WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations.224
HP:0000734HP:0100710Impulsivity1WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional149
HP:0000734HP:0100710Impulsivity1YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000734HP:0100710Impulsivity1ZIC2 CL E G H754612873ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent34


Genes (164) :AARS1 ABCA7 ACTL6B ADAT3 AFF2 AMT AP3B2 APP ARPC4 ARV1 ATP1A2 ATP1A3 ATP6V1A BCORL1 C19ORF12 C9ORF72 CACNA1A CACNA1B CACNA2D1 CDH2 CDK19 CDON CELF2 CEP152 CHCHD10 CHMP2B CLTC CNKSR2 COQ5 CREBBP CYFIP2 DALRD3 DCTN1 DEPDC5 DHDDS DISP1 DLL1 DNAJC13 DNAJC6 DNM1 DNMT1 DPYSL5 EEF1A2 EIF4G1 EP300 FBXW11 FGF12 FGF13 FGF8 FMR1 FOXH1 FTL FUS FUZ FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB2 GABRB3 GABRG2 GAS1 GBA1 GCSH GIGYF2 GLDC GLI2 GNB2 GRIK2 GRIN2A GRIN2D GRN H4C5 HCN1 HEPHL1 HIVEP2 HTRA2 HTT IFNG IL1RAPL1 KANSL1 KCNA2 KCNB1 KNL1 LGI1 LRRK2 MAGEL2 MAOA MAPT NAA20 NECAP1 NODAL NONO NTRK1 NTRK2 NUS1 PANK2 PARK7 PARS2 PCDH19 PHIP PINK1 PLA2G6 PODXL POLA1 PPP3CA PRKN PSEN1 PSEN2 PTCH1 PTCHD1 RELN SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH SIX3 SLC13A5 SLC1A2 SLC1A3 SLC2A3 SLC38A3 SNCA SORL1 SPAST SPEN SPTBN1 SQSTM1 SRCAP STIL SUGCT SYNGAP1 SYNJ1 SZT2 TARDBP TBK1 TDGF1 TGIF1 TMEM106B TMEM240 TOMM40 TRAK1 TREM2 TSC1 TSC2 TYROBP UBA5 UBTF UCHL1 USP7 VANGL1 VCP VPS13A VPS13C VPS16 VPS35 WDR62 WWOX YWHAG ZIC2

Diseases (82) :ORPHA:442835 OMIM:608907 ORPHA:1020 ORPHA:363528 ORPHA:100973 OMIM:309548 OMIM:605899 OMIM:620141 ORPHA:2131 OMIM:301029 OMIM:614298 ORPHA:275864 ORPHA:275872 OMIM:618929 ORPHA:280195 OMIM:614852 OMIM:600795 OMIM:617854 OMIM:301008 OMIM:619028 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:168605 ORPHA:101046 ORPHA:411602 ORPHA:2828 OMIM:614116 OMIM:619435 ORPHA:353284 OMIM:618914 OMIM:300623 OMIM:606159 ORPHA:3027 ORPHA:33069 OMIM:617113 OMIM:619503 OMIM:619580 ORPHA:98818 OMIM:607485 OMIM:619950 OMIM:261990 OMIM:616977 ORPHA:399 ORPHA:805 OMIM:300143 OMIM:610443 OMIM:604321 ORPHA:398069 OMIM:615547 OMIM:300615 ORPHA:240071 OMIM:600274 OMIM:172700 OMIM:619717 OMIM:300967 ORPHA:642 ORPHA:216873 ORPHA:101039 OMIM:617991 ORPHA:589905 ORPHA:35069 OMIM:610217 OMIM:301030 OMIM:300830 OMIM:182601 OMIM:619312 OMIM:619475 OMIM:616437 ORPHA:2044 ORPHA:35706 OMIM:612069 OMIM:616439 OMIM:607454 ORPHA:2770 OMIM:618193 OMIM:221770 ORPHA:500180 ORPHA:500055 OMIM:200150 OMIM:619291 OMIM:604317
 

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