Human Phenotype Ontology 
Grandparent Node:
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Behavioral abnormality (HP:0000708)help
Parent Node:
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Abnormal emotion/affect behavior (HP:0100851)help
..Starting node
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Abnormal aggressive, impulsive or violent behavior (HP:0006919)help
Term ID: 6919
Name: Abnormal aggressive, impulsive or violent behavior
Synonym: Abnormal aggressive, impulsive or violent behaviour; Aggressive/violent behavior; Aggressive/violent behaviour
Definition:
Comments:
Reference: HP:0006919
Genes and Diseases:
 
       Child Nodes:
........expandAggressive behavior (HP:0000718) help
........expandViolent behavior (HP:0008760) help
........expandSelf-injurious behavior (HP:0100716) help
................... HP:0000742 Self-mutilation
................... HP:0012166 Skin-picking
................... HP:0012167 Hair-pulling
................... HP:0012168 Head-banging
................... HP:0012169 Self-biting

 Sister Nodes: 
..expandConspicuously happy disposition (HP:0100024) help
..expandDiminished motivation (HP:0000745) help
..expandEmotional blunting (HP:0030213) help
..expandEuphoria (HP:0031844) help
..expandHappy demeanor (HP:0040082) help
..expandIrritability (HP:0000737) help
..expandobsolete Mood changes (HP:0001575) help
..expandobsolete Mood swings (HP:0000720) help
..expandSuicidal ideation (HP:0031589) help
..expandUnhappy demeanor (HP:0031588) 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:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ABCA12 CL E G H2615414637ORPHA:457Harlequin ichthyosis130
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ABCA2 CL E G H2032OMIM:618808INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndrome9
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 369
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ADNP CL E G H2339415766ORPHA:404448ADNP syndrome47
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency118
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disability59
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe59
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ALDH4A1 CL E G H8659406ORPHA:79101Hyperprolinemia type 274
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ALDH5A1 CL E G H7915408OMIM:271980Succinic semialdehyde dehydrogenase deficiency108
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 3696
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ALG14 CL E G H19985728287OMIM:619031INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF12
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0AMT CL E G H275473OMIM:605899Glycine encephalopathy56
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ANK3 CL E G H288494ORPHA:356996ANK3-related intellectual disability-sleep disturbance syndrome176
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ANK3 CL E G H288494OMIM:615493Mental retardation, autosomal recessive 37176
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0AP1G1 CL E G H164555OMIM:619548USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0AP1S2 CL E G H8905560ORPHA:85335Fried syndrome13
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome13
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0AP1S2 CL E G H8905560ORPHA:85329X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome13
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0APC2 CL E G H1029724036ORPHA:821Sotos syndrome1
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndrome88
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndrome219
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndrome25
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ARPC4 CL E G H10093707OMIM:620141
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathy166
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ATP1A1 CL E G H476799OMIM:618314Hypomagnesemia, seizures, and mental retardation 24
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhood239
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhood150
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ATP6V0A1 CL E G H535865OMIM:6199701
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ATP7B CL E G H540870ORPHA:905Wilson disease315
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndrome169
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 109
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I49
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0BCAP31 CL E G H1013416695ORPHA:369939Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome8
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz type101
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome17
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndrome2
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0C12ORF4 CL E G H571021184OMIM:618221Mental retardation, autosomal recessive 662
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementia56
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhood449
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CACNA1A CL E G H7731388ORPHA:2382Lennox-Gastaut syndrome449
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CACNB4 CL E G H7851404ORPHA:307Juvenile myoclonic epilepsy146
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 591
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability34
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathy118
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CDC42BPB CL E G H95781738OMIM:619841
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathy405
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CEP104 CL E G H973124866OMIM:6199885
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CEP152 CL E G H2299529298OMIM:614852Microcephaly 9, primary, autosomal recessive146
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5342
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CEP85L CL E G H38711921638OMIM:618873LISSENCEPHALY 10; LIS101
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CHD2 CL E G H11061917ORPHA:2382Lennox-Gastaut syndrome227
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CHD5 CL E G H2603816816OMIM:619873
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CHKA CL E G H11191937OMIM:620023
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementia42
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 742
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CILK1 CL E G H2285821219ORPHA:307Juvenile myoclonic epilepsy
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CLCN2 CL E G H11812020ORPHA:307Juvenile myoclonic epilepsy44
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndrome45
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndrome45
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CLN5 CL E G H12032076ORPHA:228360CLN5 disease141
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disability6
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1518
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CRBN CL E G H5118530185OMIM:607417Mental retardation, autosomal recessive 219
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletion291
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutations291
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects88
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CTNNB1 CL E G H14992514ORPHA:404473Severe intellectual disability-progressive spastic diplegia syndrome88
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas type38
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CUX2 CL E G H2331619347ORPHA:2382Lennox-Gastaut syndrome
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosis114
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndrome27
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0DDX3X CL E G H16542745OMIM:300958MENTAL RETARDATION, X-LINKED 102; MRX10257
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0DDX3X CL E G H16542745ORPHA:457260X-linked intellectual disability-hypotonia-movement disorder syndrome57
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0DEAF1 CL E G H1052214677OMIM:617171Dyskinesia, seizures, and intellectual developmental disorder33
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndrome33
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0DEAF1 CL E G H1052214677OMIM:615828Mental retardation, autosomal dominant 2433
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0DGCR2 CL E G H99932845OMIM:192430Velocardiofacial syndrome
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0DGCR6 CL E G H82142846OMIM:192430Velocardiofacial syndrome
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0DGCR8 CL E G H544872847OMIM:192430Velocardiofacial syndrome
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathy3
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0DNM1 CL E G H17592972OMIM:616346Epileptic encephalopathy, early infantile, 3172
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0DNM1 CL E G H17592972ORPHA:2382Lennox-Gastaut syndrome72
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 194
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndrome44
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij38
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDG38
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndrome
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0DPYD CL E G H18063012ORPHA:2939481p21.3 microdeletion syndrome144
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies1
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion134
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0EBP CL E G H106823133ORPHA:401973MEND syndrome51
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ECM1 CL E G H18933153OMIM:247100Urbach-Wiethe disease14
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0EEF1A2 CL E G H19173192OMIM:616409Epileptic encephalopathy, early infantile, 3360
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 3860
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0EFHC1 CL E G H11432716406ORPHA:307Juvenile myoclonic epilepsy153
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutation223
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome8
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 586
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ENTPD1 CL E G H9533363ORPHA:401810Autosomal recessive spastic paraplegia type 643
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ENTPD1 CL E G H9533363OMIM:615683Spastic paraplegia 64, autosomal recessive3
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiency250
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ESS2 CL E G H822016817OMIM:192430Velocardiofacial syndrome
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndrome114
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 2747
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0FIG4 CL E G H989616873ORPHA:208441Bilateral parasagittal parieto-occipital polymicrogyria111
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0FIG4 CL E G H989616873OMIM:612691Polymicrogyria, bilateral temporooccipital111
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0FMO3 CL E G H23283771ORPHA:468726Severe primary trimethylaminuria55
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndrome30
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0FMR1 CL E G H23323775ORPHA:908Fragile X syndrome30
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriers30
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0FRRS1L CL E G H237321362ORPHA:725Continuous spikes and waves during sleep4
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0FTSJ1 CL E G H2414013254OMIM:309549Mental retardation, X-linked 913
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GABBR2 CL E G H95684507OMIM:617904Epileptic encephalopathy, early infantile, 595
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GABRA1 CL E G H25544075ORPHA:307Juvenile myoclonic epilepsy134
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GABRB3 CL E G H25624083ORPHA:2382Lennox-Gastaut syndrome57
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GABRD CL E G H25634084ORPHA:16061p36 deletion syndrome10
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GABRD CL E G H25634084ORPHA:307Juvenile myoclonic epilepsy10
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 291
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GAMT CL E G H25934136ORPHA:382Guanidinoacetate methyltransferase deficiency91
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome33
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GCSH CL E G H26534208OMIM:605899Glycine encephalopathy5
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GJB2 CL E G H27064284ORPHA:494Keratoderma hereditarium mutilans199
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GLDC CL E G H27314313OMIM:605899Glycine encephalopathy166
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GLS CL E G H27444331OMIM:618339Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathy36
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GNAO1 CL E G H27754389OMIM:617493Neurodevelopmental disorder with involuntary movements36
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GRIA1 CL E G H28904571OMIM:6199313
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 9430
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutations30
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyria108
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathy108
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant108
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive108
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GRIN2A CL E G H29034585ORPHA:725Continuous spikes and waves during sleep434
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndrome434
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathy5
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementia126
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0H4C5 CL E G H83674790OMIM:619950
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0HDAC4 CL E G H975914063OMIM:600430Chromosome 2q37 deletion syndrome33
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0HDC CL E G H30674855OMIM:137580Gilles de la tourette syndrome1
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0HPRT1 CL E G H32515157OMIM:300322Lesch-Nyhan syndrome76
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease19
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndrome345
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0HTR2A CL E G H33565293OMIM:164230Obsessive-Compulsive disorder 14
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0HTT CL E G H30644851ORPHA:399Huntington disease12
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0IMPA1 CL E G H36126050OMIM:617323Mental retardation, autosomal recessive 591
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0INPP5E CL E G H5662321474ORPHA:75858MORM syndrome111
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0IQSEC1 CL E G H992229112OMIM:618687INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0IQSEC2 CL E G H2309629059OMIM:309530Mental retardation, X-linked 1119
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0IQSEC2 CL E G H2309629059ORPHA:397933Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome119
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0JRK CL E G H86296199ORPHA:307Juvenile myoclonic epilepsy
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0KARS1 CL E G H37356215OMIM:613641Charcot-marie-tooth disease, recessive intermediate B
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathy145
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndrome1
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0KCNQ3 CL E G H37866297ORPHA:307Juvenile myoclonic epilepsy302
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0KCNT1 CL E G H5758218865OMIM:615005Epilepsy, nocturnal frontal lobe, 5321
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 652
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutation81
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation46
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0KIF5C CL E G H38006325OMIM:615282CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM218
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndrome91
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome91
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0KMT2C CL E G H5850813726OMIM:617768Kleefstra syndrome 299
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutation99
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0KMT2E CL E G H5590418541OMIM:618512O'donnell-Luria-Rodan syndrome1
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0KNL1 CL E G H5708224054OMIM:604321Microcephaly 4, primary, autosomal recessive112
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndrome13
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 4113
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0LARP7 CL E G H5157424912ORPHA:319671Alazami syndrome16
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0LEPR CL E G H39536554OMIM:614963Leptin receptor deficiency46
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0LINGO1 CL E G H8489421205OMIM:618103Mental retardation, autosomal recessive 64
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0LINS1 CL E G H5518030922OMIM:614340Mental retardation, autosomal recessive 2725
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0LMAN2L CL E G H8156219263OMIM:616887Mental retardation, autosomal recessive 521
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndrome
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndrome63
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1563
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 163
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 263
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome63
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MANBA CL E G H41266831OMIM:248510MANNOSIDOSIS, BETA A, LYSOSOMAL55
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MAOA CL E G H41286833OMIM:300615Brunner syndrome22
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MAPK10 CL E G H56026872ORPHA:2382Lennox-Gastaut syndrome61
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementia140
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndrome252
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndromeHP:0040282 - Frequent950
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome228
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiency74
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0METTL5 CL E G H2908125006OMIM:618665INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa39
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndrome
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 3913
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz type23
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NAGLU CL E G H46697632OMIM:252920Mucopolysaccharidosis type IIIB72
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NAGS CL E G H16241717996OMIM:237310N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY36
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome48
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NAT8L CL E G H33998326742OMIM:614063N-ACETYLASPARTATE DEFICIENCY1
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NBEA CL E G H269607648OMIM:619157NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE3
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY96
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NDP CL E G H46937678ORPHA:649Norrie disease39
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NDP CL E G H46937678OMIM:310600Norrie disease39
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NDST1 CL E G H33407680OMIM:616116Mental retardation, autosomal recessive 4627
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathy
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NFIB CL E G H47817785OMIM:618286Macrocephaly, acquired, with impaired intellectual development1
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndrome40
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NIPA1 CL E G H12360617043ORPHA:26118315q11.2 microdeletion syndrome117
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NIPA2 CL E G H8161417044ORPHA:26118315q11.2 microdeletion syndrome1
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NKAP CL E G H7957629873OMIM:301039INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NRCAM CL E G H48977994OMIM:6198332
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NSD1 CL E G H6432414234ORPHA:821Sotos syndrome544
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NSDHL CL E G H5081413398ORPHA:251383CK syndrome34
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NSDHL CL E G H5081413398OMIM:300831Ck syndrome34
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis97
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15121
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1121
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2121
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0OCRL CL E G H49528108OMIM:309000Lowe syndrome88
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of Lowe88
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome1
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome24
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PAH CL E G H50538582ORPHA:79254Classic phenylketonuria641
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegeneration55
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PCDH19 CL E G H5752614270OMIM:300088Epileptic encephalopathy, early infantile, 9225
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PCDH19 CL E G H5752614270ORPHA:101039Female restricted epilepsy with intellectual disability225
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PDE2A CL E G H51388777OMIM:619150INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndrome
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features11
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PIDD1 CL E G H5536716491OMIM:619827INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PIGH CL E G H52838964OMIM:618010Glycosylphosphatidylinositol biosynthesis defect 171
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome36
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathy2
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathy3
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathy244
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndrome35
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome10
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndrome148
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndrome
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease69
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PRNP CL E G H56219449OMIM:603218Huntington disease-like 169
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PRODH CL E G H56259453OMIM:239500Hyperprolinemia, type I13
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PRRT2 CL E G H11247630500ORPHA:98811Paroxysmal exertion-induced dyskinesia94
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementia241
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PSMB1 CL E G H56899537OMIM:6200382
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndrome4
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PTCHD1 CL E G H13941126392OMIM:300830Autism, susceptibility to, X-linked 434
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome1
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathy11
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndrome150
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0RBBP8 CL E G H59329891OMIM:251255Jawad syndrome68
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0RBL2 CL E G H59349894OMIM:619690BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0RERE CL E G H4739965ORPHA:16061p36 deletion syndrome16
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndrome16
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome7
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0RORB CL E G H609610259OMIM:618357Epilepsy, idiopathic generalized, susceptibility to, 153
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0RPL10 CL E G H613410298ORPHA:435938X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome10
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndrome65
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiency113
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SARS1 CL E G H630110537OMIM:617709Neurodevelopmental disorder with microcephaly, ataxia, and seizures
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SASS6 CL E G H16378625403OMIM:616402Microcephaly 14, primary, autosomal recessive4
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndrome34
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SATB2 CL E G H2331421637OMIM:612313Glass syndrome34
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement34
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SCN1A CL E G H632310585ORPHA:2382Lennox-Gastaut syndrome1053
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathy126
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathy427
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SETD1A CL E G H973929010OMIM:619056NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID6
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SETD2 CL E G H2907218420OMIM:616831Luscan-Lumish syndrome60
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SETD2 CL E G H2907218420ORPHA:821Sotos syndrome60
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SH2B1 CL E G H2597030417ORPHA:329249Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.353
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SHQ1 CL E G H5516425543OMIM:619922
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathy11
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndrome40
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SKI CL E G H649710896ORPHA:16061p36 deletion syndrome150
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhood63
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome4
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SLC25A13 CL E G H1016510983ORPHA:247585Citrullinemia type II82
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathy166
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SLC2A1 CL E G H651311005ORPHA:98811Paroxysmal exertion-induced dyskinesia255
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SLC2A3 CL E G H651511007ORPHA:399Huntington disease1
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 247
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 4812
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome12
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SLC6A4 CL E G H653211050OMIM:164230Obsessive-Compulsive disorder 152
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked122
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiency122
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SLITRK1 CL E G H11479820297OMIM:137580Gilles de la tourette syndrome58
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SLITRK1 CL E G H11479820297OMIM:613229TRICHOTILLOMANIA58
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndrome617
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndrome87
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndrome1
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SMARCC2 CL E G H660111105OMIM:618362Coffin-Siris syndrome 81
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndrome
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndrome47
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SMG8 CL E G H5518125551OMIM:619268ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1537
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 137
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 237
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndrome14
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndrome
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiency11
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SPAST CL E G H668311233OMIM:182601Spastic paraplegia 4, autosomal dominant208
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome19
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndrome4
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SPR CL E G H669711257OMIM:612716Dystonia, dopa-responsive, due to sepiapterin reductase deficiency28
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SQSTM1 CL E G H887811280ORPHA:275864Behavioral variant of frontotemporal dementia62
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndrome138
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0STEEP1 CL E G H6393226239OMIM:301013MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0STT3A CL E G H37036172OMIM:619714CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD21
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduria60
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SYN1 CL E G H685311494OMIM:300491Epilepsy, X-linked, with variable learning disabilities and behavior disorders58
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SYN1 CL E G H685311494ORPHA:85294X-linked epilepsy-learning disabilities-behavior disorders syndrome58
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SYT1 CL E G H685711509OMIM:618218Baker-Gordon syndrome1
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 177
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TBX1 CL E G H689911592OMIM:192430Velocardiofacial syndrome32
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities1
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome241
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndrome241
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndrome5
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TIMM50 CL E G H9260923656ORPHA:5052163-methylglutaconic aciduria type 91
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX1
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TKT CL E G H708611834OMIM:617044Short stature, developmental delay, and congenital heart defects4
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TKT CL E G H708611834ORPHA:488618Transketolase deficiency4
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TMEM106B CL E G H5466422407ORPHA:275864Behavioral variant of frontotemporal dementia
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TMEM147 CL E G H1043030414OMIM:620075
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TMEM222 CL E G H8406525363OMIM:619470NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TMEM231 CL E G H7958337234OMIM:614970Joubert syndrome 2033
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TRAPPC10 CL E G H710911868OMIM:6200271
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TREM2 CL E G H5420917761ORPHA:275864Behavioral variant of frontotemporal dementia31
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathy1
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome8
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TRIP12 CL E G H932012306OMIM:617752Mental retardation, autosomal dominant 492
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TTC19 CL E G H5490226006OMIM:615157Mitochondrial complex III deficiency, nuclear type 288
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TTI2 CL E G H8018526262OMIM:615541Mental retardation, autosomal recessive 3911
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome11
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TUBG1 CL E G H728312417ORPHA:26118315q11.2 microdeletion syndrome14
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0TYROBP CL E G H730512449OMIM:221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy22
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento type7
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0UBE4A CL E G H935412499OMIM:619639NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS1
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndrome
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome23
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 77
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0UROC1 CL E G H13166926444OMIM:276880Urocanase deficiency8
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndrome2
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome2
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0USP9X CL E G H823912632OMIM:300919MENTAL RETARDATION, X-LINKED 99; MRX9927
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0VAMP2 CL E G H684412643OMIM:618760NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0VCP CL E G H741512666ORPHA:275864Behavioral variant of frontotemporal dementia63
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS130
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome20
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion20
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation20
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures2
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0WARS2 CL E G H1035212730OMIM:619738PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS32
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defect2
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0WASHC4 CL E G H2332529174OMIM:615817Mental retardation, autosomal recessive 4325
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0WDR45 CL E G H1115228912ORPHA:329284Beta-propeller protein-associated neurodegeneration51
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0WDR45 CL E G H1115228912OMIM:300894Neurodegeneration with brain iron accumulation 551
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations224
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0006919HP:0006919Abnormal aggressive, impulsive or violent behavior0ZMYND11 CL E G H1077116966OMIM:616083Mental retardation, autosomal dominant 3024
HP:0006919HP:0100716Self-injurious behavior1ABCA12 CL E G H2615414637ORPHA:457Harlequin ichthyosisHP:0040283 - Occasional130
HP:0006919HP:0000718Aggressive behavior1ABCA2 CL E G H2032OMIM:618808INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0006919HP:0000718Aggressive behavior1ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0006919HP:0000718Aggressive behavior1ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 36HP:0040284 - Very rare9
HP:0006919HP:0000718Aggressive behavior1ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040283 - Occasional47
HP:0006919HP:0000718Aggressive behavior1ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0006919HP:0100716Self-injurious behavior1ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency118
HP:0006919HP:0000718Aggressive behavior1AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disabilityHP:0040282 - Frequent59
HP:0006919HP:0000718Aggressive behavior1AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe59
HP:0006919HP:0000718Aggressive behavior1AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0006919HP:0000718Aggressive behavior1ALDH4A1 CL E G H8659406ORPHA:79101Hyperprolinemia type 2HP:0040283 - Occasional74
HP:0006919HP:0100716Self-injurious behavior1ALDH5A1 CL E G H7915408OMIM:271980Succinic semialdehyde dehydrogenase deficiency.108
HP:0006919HP:0000718Aggressive behavior1ALDH5A1 CL E G H7915408OMIM:271980Succinic semialdehyde dehydrogenase deficiency.108
HP:0006919HP:0100716Self-injurious behavior1ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 3696
HP:0006919HP:0100716Self-injurious behavior1ALG14 CL E G H19985728287OMIM:619031INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF12
HP:0006919HP:0000718Aggressive behavior1ALG14 CL E G H19985728287OMIM:619031INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF12
HP:0006919HP:0000718Aggressive behavior1AMT CL E G H275473OMIM:605899Glycine encephalopathy.56
HP:0006919HP:0000718Aggressive behavior1ANK3 CL E G H288494ORPHA:356996ANK3-related intellectual disability-sleep disturbance syndromeHP:0040282 - Frequent176
HP:0006919HP:0000718Aggressive behavior1ANK3 CL E G H288494OMIM:615493Mental retardation, autosomal recessive 37.176
HP:0006919HP:0100716Self-injurious behavior1AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0006919HP:0000718Aggressive behavior1AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0006919HP:0000718Aggressive behavior1AP1G1 CL E G H164555OMIM:619548USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0006919HP:0000718Aggressive behavior1AP1S2 CL E G H8905560ORPHA:85335Fried syndromeHP:0040282 - Frequent13
HP:0006919HP:0100716Self-injurious behavior1AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome.13
HP:0006919HP:0000718Aggressive behavior1AP1S2 CL E G H8905560ORPHA:85329X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndromeHP:0040281 - Very frequent13
HP:0006919HP:0000718Aggressive behavior1APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040283 - Occasional1
HP:0006919HP:0000718Aggressive behavior1ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional88
HP:0006919HP:0000718Aggressive behavior1ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional219
HP:0006919HP:0000718Aggressive behavior1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0006919HP:0000718Aggressive behavior1ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional25
HP:0006919HP:0000718Aggressive behavior1ARPC4 CL E G H10093707OMIM:620141
HP:0006919HP:0100716Self-injurious behavior1ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0006919HP:0100716Self-injurious behavior1ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0006919HP:0100716Self-injurious behavior1ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0006919HP:0000718Aggressive behavior1ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome.100
HP:0006919HP:0000718Aggressive behavior1ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0006919HP:0100716Self-injurious behavior1ATP1A1 CL E G H476799OMIM:618314Hypomagnesemia, seizures, and mental retardation 24
HP:0006919HP:0000718Aggressive behavior1ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0006919HP:0000718Aggressive behavior1ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0006919HP:0100716Self-injurious behavior1ATP6V0A1 CL E G H535865OMIM:6199701
HP:0006919HP:0000718Aggressive behavior1ATP7B CL E G H540870ORPHA:905Wilson diseaseHP:0040281 - Very frequent315
HP:0006919HP:0100716Self-injurious behavior1ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040283 - Occasional169
HP:0006919HP:0000718Aggressive behavior1ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 10HP:0040283 - Occasional9
HP:0006919HP:0100716Self-injurious behavior1AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I49
HP:0006919HP:0000718Aggressive behavior1BCAP31 CL E G H1013416695ORPHA:369939Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndromeHP:0040283 - Occasional8
HP:0006919HP:0100716Self-injurious behavior1BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040283 - Occasional101
HP:0006919HP:0100716Self-injurious behavior1BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0006919HP:0000718Aggressive behavior1BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0006919HP:0000718Aggressive behavior1BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome17
HP:0006919HP:0000718Aggressive behavior1BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0006919HP:0000718Aggressive behavior1BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0006919HP:0000718Aggressive behavior1C12ORF4 CL E G H571021184OMIM:618221Mental retardation, autosomal recessive 662
HP:0006919HP:0000718Aggressive behavior1C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent56
HP:0006919HP:0000718Aggressive behavior1CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0006919HP:0000718Aggressive behavior1CACNA1A CL E G H7731388ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent449
HP:0006919HP:0000718Aggressive behavior1CACNB4 CL E G H7851404ORPHA:307Juvenile myoclonic epilepsyHP:0040284 - Very rare146
HP:0006919HP:0000718Aggressive behavior1CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0006919HP:0100716Self-injurious behavior1CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 591
HP:0006919HP:0000718Aggressive behavior1CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation.34
HP:0006919HP:0000718Aggressive behavior1CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040282 - Frequent34
HP:0006919HP:0100716Self-injurious behavior1CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional118
HP:0006919HP:0100716Self-injurious behavior1CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent3
HP:0006919HP:0100716Self-injurious behavior1CDC42BPB CL E G H95781738OMIM:619841
HP:0006919HP:0000718Aggressive behavior1CDC42BPB CL E G H95781738OMIM:619841
HP:0006919HP:0100716Self-injurious behavior1CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0006919HP:0100716Self-injurious behavior1CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional405
HP:0006919HP:0100716Self-injurious behavior1CEP104 CL E G H973124866OMIM:6199885
HP:0006919HP:0000718Aggressive behavior1CEP152 CL E G H2299529298OMIM:614852Microcephaly 9, primary, autosomal recessive.146
HP:0006919HP:0100716Self-injurious behavior1CEP152 CL E G H2299529298OMIM:614852Microcephaly 9, primary, autosomal recessive146
HP:0006919HP:0000718Aggressive behavior1CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5342
HP:0006919HP:0000718Aggressive behavior1CEP85L CL E G H38711921638OMIM:618873LISSENCEPHALY 10; LIS101
HP:0006919HP:0000718Aggressive behavior1CHD2 CL E G H11061917ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent227
HP:0006919HP:0000718Aggressive behavior1CHD5 CL E G H2603816816OMIM:619873
HP:0006919HP:0100716Self-injurious behavior1CHD5 CL E G H2603816816OMIM:619873
HP:0006919HP:0100716Self-injurious behavior1CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0006919HP:0000718Aggressive behavior1CHKA CL E G H11191937OMIM:620023
HP:0006919HP:0100716Self-injurious behavior1CHKA CL E G H11191937OMIM:620023
HP:0006919HP:0000718Aggressive behavior1CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent42
HP:0006919HP:0000718Aggressive behavior1CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 7.42
HP:0006919HP:0000718Aggressive behavior1CILK1 CL E G H2285821219ORPHA:307Juvenile myoclonic epilepsyHP:0040284 - Very rare
HP:0006919HP:0000718Aggressive behavior1CLCN2 CL E G H11812020ORPHA:307Juvenile myoclonic epilepsyHP:0040284 - Very rare44
HP:0006919HP:0100716Self-injurious behavior1CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0006919HP:0000718Aggressive behavior1CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040283 - Occasional45
HP:0006919HP:0100716Self-injurious behavior1CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040283 - Occasional45
HP:0006919HP:0000718Aggressive behavior1CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndrome.45
HP:0006919HP:0000718Aggressive behavior1CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0006919HP:0000718Aggressive behavior1CLN5 CL E G H12032076ORPHA:228360CLN5 diseaseHP:0040282 - Frequent141
HP:0006919HP:0100716Self-injurious behavior1CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disability6
HP:0006919HP:0000718Aggressive behavior1CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0006919HP:0100716Self-injurious behavior1CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0006919HP:0000718Aggressive behavior1CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1.518
HP:0006919HP:0100716Self-injurious behavior1CRBN CL E G H5118530185OMIM:607417Mental retardation, autosomal recessive 219
HP:0006919HP:0100716Self-injurious behavior1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0006919HP:0000718Aggressive behavior1CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040283 - Occasional291
HP:0006919HP:0100716Self-injurious behavior1CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040283 - Occasional291
HP:0006919HP:0000718Aggressive behavior1CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040283 - Occasional291
HP:0006919HP:0100716Self-injurious behavior1CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040283 - Occasional291
HP:0006919HP:0100716Self-injurious behavior1CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects88
HP:0006919HP:0000718Aggressive behavior1CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects88
HP:0006919HP:0000718Aggressive behavior1CTNNB1 CL E G H14992514ORPHA:404473Severe intellectual disability-progressive spastic diplegia syndromeHP:0040283 - Occasional88
HP:0006919HP:0100716Self-injurious behavior1CTNNB1 CL E G H14992514ORPHA:404473Severe intellectual disability-progressive spastic diplegia syndromeHP:0040283 - Occasional88
HP:0006919HP:0000718Aggressive behavior1CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0006919HP:0000718Aggressive behavior1CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040282 - Frequent38
HP:0006919HP:0000718Aggressive behavior1CUX2 CL E G H2331619347ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent
HP:0006919HP:0000718Aggressive behavior1CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040283 - Occasional114
HP:0006919HP:0000718Aggressive behavior1DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0006919HP:0100716Self-injurious behavior1DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional27
HP:0006919HP:0000718Aggressive behavior1DDX3X CL E G H16542745OMIM:300958MENTAL RETARDATION, X-LINKED 102; MRX10257
HP:0006919HP:0000718Aggressive behavior1DDX3X CL E G H16542745ORPHA:457260X-linked intellectual disability-hypotonia-movement disorder syndromeHP:0040282 - Frequent57
HP:0006919HP:0000718Aggressive behavior1DEAF1 CL E G H1052214677OMIM:617171Dyskinesia, seizures, and intellectual developmental disorder.33
HP:0006919HP:0000718Aggressive behavior1DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndromeHP:0040282 - Frequent33
HP:0006919HP:0000718Aggressive behavior1DEAF1 CL E G H1052214677OMIM:615828Mental retardation, autosomal dominant 24.33
HP:0006919HP:0100716Self-injurious behavior1DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent33
HP:0006919HP:0000718Aggressive behavior1DGCR2 CL E G H99932845OMIM:192430Velocardiofacial syndrome.
HP:0006919HP:0000718Aggressive behavior1DGCR6 CL E G H82142846OMIM:192430Velocardiofacial syndrome.
HP:0006919HP:0000718Aggressive behavior1DGCR8 CL E G H544872847OMIM:192430Velocardiofacial syndrome.
HP:0006919HP:0100716Self-injurious behavior1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0006919HP:0100716Self-injurious behavior1DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040282 - Frequent159
HP:0006919HP:0000718Aggressive behavior1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0006919HP:0100716Self-injurious behavior1DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0006919HP:0100716Self-injurious behavior1DNM1 CL E G H17592972OMIM:616346Epileptic encephalopathy, early infantile, 31HP:0040283 - Occasional72
HP:0006919HP:0000718Aggressive behavior1DNM1 CL E G H17592972ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent72
HP:0006919HP:0100716Self-injurious behavior1DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 194
HP:0006919HP:0000718Aggressive behavior1DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndromeHP:0040284 - Very rare44
HP:0006919HP:0000718Aggressive behavior1DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type IjHP:0040283 - Occasional38
HP:0006919HP:0100716Self-injurious behavior1DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDG38
HP:0006919HP:0000718Aggressive behavior1DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0006919HP:0000718Aggressive behavior1DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional
HP:0006919HP:0000718Aggressive behavior1DPYD CL E G H18063012ORPHA:2939481p21.3 microdeletion syndromeHP:0040283 - Occasional144
HP:0006919HP:0100716Self-injurious behavior1DPYD CL E G H18063012ORPHA:2939481p21.3 microdeletion syndromeHP:0040283 - Occasional144
HP:0006919HP:0000718Aggressive behavior1DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0006919HP:0000718Aggressive behavior1DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies1
HP:0006919HP:0000718Aggressive behavior1DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040283 - Occasional134
HP:0006919HP:0000718Aggressive behavior1EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040283 - Occasional51
HP:0006919HP:0000718Aggressive behavior1ECM1 CL E G H18933153OMIM:247100Urbach-Wiethe disease.14
HP:0006919HP:0000718Aggressive behavior1EEF1A2 CL E G H19173192OMIM:616409Epileptic encephalopathy, early infantile, 33.60
HP:0006919HP:0100716Self-injurious behavior1EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 3860
HP:0006919HP:0000718Aggressive behavior1EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 38.60
HP:0006919HP:0000718Aggressive behavior1EFHC1 CL E G H11432716406ORPHA:307Juvenile myoclonic epilepsyHP:0040284 - Very rare153
HP:0006919HP:0000718Aggressive behavior1EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndromeHP:0040282 - Frequent223
HP:0006919HP:0100716Self-injurious behavior1EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional223
HP:0006919HP:0000718Aggressive behavior1EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome.8
HP:0006919HP:0100716Self-injurious behavior1ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 586
HP:0006919HP:0000718Aggressive behavior1ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 58.6
HP:0006919HP:0000718Aggressive behavior1ENTPD1 CL E G H9533363ORPHA:401810Autosomal recessive spastic paraplegia type 64HP:0040282 - Frequent3
HP:0006919HP:0000718Aggressive behavior1ENTPD1 CL E G H9533363OMIM:615683Spastic paraplegia 64, autosomal recessive.3
HP:0006919HP:0100716Self-injurious behavior1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0006919HP:0100716Self-injurious behavior1EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040283 - Occasional250
HP:0006919HP:0000718Aggressive behavior1EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040283 - Occasional250
HP:0006919HP:0000718Aggressive behavior1ESS2 CL E G H822016817OMIM:192430Velocardiofacial syndrome.
HP:0006919HP:0100716Self-injurious behavior1FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional114
HP:0006919HP:0000718Aggressive behavior1FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0006919HP:0100716Self-injurious behavior1FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0006919HP:0000718Aggressive behavior1FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0006919HP:0000718Aggressive behavior1FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 27HP:0040282 - Frequent47
HP:0006919HP:0000718Aggressive behavior1FIG4 CL E G H989616873ORPHA:208441Bilateral parasagittal parieto-occipital polymicrogyriaHP:0040283 - Occasional111
HP:0006919HP:0000718Aggressive behavior1FIG4 CL E G H989616873OMIM:612691Polymicrogyria, bilateral temporooccipital.111
HP:0006919HP:0100716Self-injurious behavior1FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent
HP:0006919HP:0000718Aggressive behavior1FMO3 CL E G H23283771ORPHA:468726Severe primary trimethylaminuriaHP:0040283 - Occasional55
HP:0006919HP:0100716Self-injurious behavior1FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndrome30
HP:0006919HP:0100716Self-injurious behavior1FMR1 CL E G H23323775ORPHA:908Fragile X syndromeHP:0040283 - Occasional30
HP:0006919HP:0000718Aggressive behavior1FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040284 - Very rare30
HP:0006919HP:0100716Self-injurious behavior1FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040284 - Very rare30
HP:0006919HP:0100716Self-injurious behavior1FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0006919HP:0000718Aggressive behavior1FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0006919HP:0000718Aggressive behavior1FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0006919HP:0000718Aggressive behavior1FRRS1L CL E G H237321362ORPHA:725Continuous spikes and waves during sleepHP:0040283 - Occasional4
HP:0006919HP:0000718Aggressive behavior1FTSJ1 CL E G H2414013254OMIM:309549Mental retardation, X-linked 913
HP:0006919HP:0100716Self-injurious behavior1GABBR2 CL E G H95684507OMIM:617904Epileptic encephalopathy, early infantile, 59.5
HP:0006919HP:0000718Aggressive behavior1GABRA1 CL E G H25544075ORPHA:307Juvenile myoclonic epilepsyHP:0040284 - Very rare134
HP:0006919HP:0000718Aggressive behavior1GABRB3 CL E G H25624083ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent57
HP:0006919HP:0100716Self-injurious behavior1GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent10
HP:0006919HP:0000718Aggressive behavior1GABRD CL E G H25634084ORPHA:307Juvenile myoclonic epilepsyHP:0040284 - Very rare10
HP:0006919HP:0000718Aggressive behavior1GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 291
HP:0006919HP:0000718Aggressive behavior1GAMT CL E G H25934136ORPHA:382Guanidinoacetate methyltransferase deficiencyHP:0040283 - Occasional91
HP:0006919HP:0100716Self-injurious behavior1GAMT CL E G H25934136ORPHA:382Guanidinoacetate methyltransferase deficiencyHP:0040283 - Occasional91
HP:0006919HP:0100716Self-injurious behavior1GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome33
HP:0006919HP:0000718Aggressive behavior1GCSH CL E G H26534208OMIM:605899Glycine encephalopathy.5
HP:0006919HP:0100716Self-injurious behavior1GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0006919HP:0100716Self-injurious behavior1GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0006919HP:0100716Self-injurious behavior1GJB2 CL E G H27064284ORPHA:494Keratoderma hereditarium mutilansHP:0040283 - Occasional199
HP:0006919HP:0000718Aggressive behavior1GLDC CL E G H27314313OMIM:605899Glycine encephalopathy.166
HP:0006919HP:0100716Self-injurious behavior1GLS CL E G H27444331OMIM:618339Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development.
HP:0006919HP:0100716Self-injurious behavior1GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional36
HP:0006919HP:0100716Self-injurious behavior1GNAO1 CL E G H27754389OMIM:617493Neurodevelopmental disorder with involuntary movements.36
HP:0006919HP:0000718Aggressive behavior1GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0006919HP:0000718Aggressive behavior1GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0006919HP:0100716Self-injurious behavior1GRIA1 CL E G H28904571OMIM:6199313
HP:0006919HP:0100716Self-injurious behavior1GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0006919HP:0000718Aggressive behavior1GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 94.30
HP:0006919HP:0100716Self-injurious behavior1GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 9430
HP:0006919HP:0000718Aggressive behavior1GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0006919HP:0100716Self-injurious behavior1GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutations30
HP:0006919HP:0000718Aggressive behavior1GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0006919HP:0100716Self-injurious behavior1GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040283 - Occasional108
HP:0006919HP:0100716Self-injurious behavior1GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional108
HP:0006919HP:0100716Self-injurious behavior1GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant.108
HP:0006919HP:0100716Self-injurious behavior1GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive.108
HP:0006919HP:0000718Aggressive behavior1GRIN2A CL E G H29034585ORPHA:725Continuous spikes and waves during sleepHP:0040283 - Occasional434
HP:0006919HP:0000718Aggressive behavior1GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndromeHP:0040283 - Occasional434
HP:0006919HP:0100716Self-injurious behavior1GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional5
HP:0006919HP:0100716Self-injurious behavior1GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0006919HP:0000718Aggressive behavior1GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent126
HP:0006919HP:0100716Self-injurious behavior1H4C5 CL E G H83674790OMIM:619950
HP:0006919HP:0000718Aggressive behavior1HDAC4 CL E G H975914063OMIM:600430Chromosome 2q37 deletion syndrome.33
HP:0006919HP:0100716Self-injurious behavior1HDAC4 CL E G H975914063OMIM:600430Chromosome 2q37 deletion syndrome.33
HP:0006919HP:0100716Self-injurious behavior1HDC CL E G H30674855OMIM:137580Gilles de la tourette syndrome1
HP:0006919HP:0000718Aggressive behavior1HDC CL E G H30674855OMIM:137580Gilles de la tourette syndrome.1
HP:0006919HP:0100716Self-injurious behavior1HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0006919HP:0000718Aggressive behavior1HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0006919HP:0100716Self-injurious behavior1HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0006919HP:0000718Aggressive behavior1HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0006919HP:0100716Self-injurious behavior1HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0006919HP:0000718Aggressive behavior1HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0006919HP:0000718Aggressive behavior1HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0006919HP:0100716Self-injurious behavior1HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0006919HP:0100716Self-injurious behavior1HPRT1 CL E G H32515157OMIM:300322Lesch-Nyhan syndrome.76
HP:0006919HP:0000718Aggressive behavior1HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease.19
HP:0006919HP:0100716Self-injurious behavior1HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent345
HP:0006919HP:0100716Self-injurious behavior1HTR2A CL E G H33565293OMIM:164230Obsessive-Compulsive disorder 14
HP:0006919HP:0000718Aggressive behavior1HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0006919HP:0000718Aggressive behavior1HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040282 - Frequent12
HP:0006919HP:0100716Self-injurious behavior1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0006919HP:0000718Aggressive behavior1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0006919HP:0000718Aggressive behavior1IMPA1 CL E G H36126050OMIM:617323Mental retardation, autosomal recessive 59.1
HP:0006919HP:0000718Aggressive behavior1INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1.111
HP:0006919HP:0100716Self-injurious behavior1INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0006919HP:0000718Aggressive behavior1INPP5E CL E G H5662321474ORPHA:75858MORM syndromeHP:0040282 - Frequent111
HP:0006919HP:0100716Self-injurious behavior1IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0006919HP:0000718Aggressive behavior1IQSEC1 CL E G H992229112OMIM:618687INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0006919HP:0000718Aggressive behavior1IQSEC2 CL E G H2309629059OMIM:309530Mental retardation, X-linked 1119
HP:0006919HP:0100716Self-injurious behavior1IQSEC2 CL E G H2309629059ORPHA:397933Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndromeHP:0040283 - Occasional119
HP:0006919HP:0100716Self-injurious behavior1IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent119
HP:0006919HP:0000718Aggressive behavior1JRK CL E G H86296199ORPHA:307Juvenile myoclonic epilepsyHP:0040284 - Very rare
HP:0006919HP:0100716Self-injurious behavior1KARS1 CL E G H37356215OMIM:613641Charcot-marie-tooth disease, recessive intermediate B
HP:0006919HP:0100716Self-injurious behavior1KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0006919HP:0100716Self-injurious behavior1KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional145
HP:0006919HP:0100716Self-injurious behavior1KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent1
HP:0006919HP:0000718Aggressive behavior1KCNQ3 CL E G H37866297ORPHA:307Juvenile myoclonic epilepsyHP:0040284 - Very rare302
HP:0006919HP:0000718Aggressive behavior1KCNT1 CL E G H5758218865OMIM:615005Epilepsy, nocturnal frontal lobe, 5HP:0040283 - Occasional321
HP:0006919HP:0000718Aggressive behavior1KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0006919HP:0000718Aggressive behavior1KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0006919HP:0000718Aggressive behavior1KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 652
HP:0006919HP:0000718Aggressive behavior1KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0006919HP:0000718Aggressive behavior1KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutationHP:0040282 - Frequent81
HP:0006919HP:0000718Aggressive behavior1KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationHP:0040283 - Occasional46
HP:0006919HP:0100716Self-injurious behavior1KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0006919HP:0100716Self-injurious behavior1KIF5C CL E G H38006325OMIM:615282CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM218
HP:0006919HP:0000718Aggressive behavior1KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040282 - Frequent91
HP:0006919HP:0000718Aggressive behavior1KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome.91
HP:0006919HP:0100716Self-injurious behavior1KMT2C CL E G H5850813726OMIM:617768Kleefstra syndrome 299
HP:0006919HP:0100716Self-injurious behavior1KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional99
HP:0006919HP:0000718Aggressive behavior1KMT2E CL E G H5590418541OMIM:618512O'donnell-Luria-Rodan syndrome.1
HP:0006919HP:0100716Self-injurious behavior1KMT2E CL E G H5590418541OMIM:618512O'donnell-Luria-Rodan syndrome.1
HP:0006919HP:0000718Aggressive behavior1KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0006919HP:0000718Aggressive behavior1KNL1 CL E G H5708224054OMIM:604321Microcephaly 4, primary, autosomal recessive.112
HP:0006919HP:0100716Self-injurious behavior1KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndromeHP:0040283 - Occasional13
HP:0006919HP:0100716Self-injurious behavior1KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 4113
HP:0006919HP:0100716Self-injurious behavior1LARP7 CL E G H5157424912ORPHA:319671Alazami syndrome16
HP:0006919HP:0000718Aggressive behavior1LEPR CL E G H39536554OMIM:614963Leptin receptor deficiencyHP:0040280 - ObligateHP:0003593 - Infantile onset46
HP:0006919HP:0000718Aggressive behavior1LINGO1 CL E G H8489421205OMIM:618103Mental retardation, autosomal recessive 64.
HP:0006919HP:0000718Aggressive behavior1LINS1 CL E G H5518030922OMIM:614340Mental retardation, autosomal recessive 27HP:0040283 - Occasional25
HP:0006919HP:0000718Aggressive behavior1LMAN2L CL E G H8156219263OMIM:616887Mental retardation, autosomal recessive 521
HP:0006919HP:0100716Self-injurious behavior1LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0006919HP:0000718Aggressive behavior1MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome.
HP:0006919HP:0100716Self-injurious behavior1MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0006919HP:0100716Self-injurious behavior1MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0006919HP:0100716Self-injurious behavior1MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndrome63
HP:0006919HP:0100716Self-injurious behavior1MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0006919HP:0100716Self-injurious behavior1MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional63
HP:0006919HP:0100716Self-injurious behavior1MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0006919HP:0100716Self-injurious behavior1MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent63
HP:0006919HP:0100716Self-injurious behavior1MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome63
HP:0006919HP:0000718Aggressive behavior1MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0006919HP:0000718Aggressive behavior1MANBA CL E G H41266831OMIM:248510MANNOSIDOSIS, BETA A, LYSOSOMAL.55
HP:0006919HP:0000718Aggressive behavior1MAOA CL E G H41286833OMIM:300615Brunner syndrome22
HP:0006919HP:0100716Self-injurious behavior1MAOA CL E G H41286833OMIM:300615Brunner syndrome22
HP:0006919HP:0000718Aggressive behavior1MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0006919HP:0100716Self-injurious behavior1MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0006919HP:0000718Aggressive behavior1MAPK10 CL E G H56026872ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent61
HP:0006919HP:0000718Aggressive behavior1MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent140
HP:0006919HP:0100716Self-injurious behavior1MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040282 - Frequent252
HP:0006919HP:0000718Aggressive behavior1MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.252
HP:0006919HP:0100716Self-injurious behavior1MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.252
HP:0006919HP:0000718Aggressive behavior1MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndromeHP:0040281 - Very frequent950
HP:0006919HP:0000718Aggressive behavior1MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome.228
HP:0006919HP:0000718Aggressive behavior1MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0006919HP:0000718Aggressive behavior1MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0006919HP:0000718Aggressive behavior1MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0006919HP:0000718Aggressive behavior1METTL5 CL E G H2908125006OMIM:618665INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0006919HP:0000718Aggressive behavior1MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0006919HP:0100716Self-injurious behavior1MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa39
HP:0006919HP:0100716Self-injurious behavior1MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0006919HP:0100716Self-injurious behavior1MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0006919HP:0100716Self-injurious behavior1MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0006919HP:0100716Self-injurious behavior1MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 3913
HP:0006919HP:0000718Aggressive behavior1MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 39.13
HP:0006919HP:0100716Self-injurious behavior1NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040283 - Occasional23
HP:0006919HP:0100716Self-injurious behavior1NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0006919HP:0000718Aggressive behavior1NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0006919HP:0000718Aggressive behavior1NAGLU CL E G H46697632OMIM:252920Mucopolysaccharidosis type IIIB.72
HP:0006919HP:0000718Aggressive behavior1NAGS CL E G H16241717996OMIM:237310N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY.36
HP:0006919HP:0100716Self-injurious behavior1NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040283 - Occasional48
HP:0006919HP:0100716Self-injurious behavior1NAT8L CL E G H33998326742OMIM:614063N-ACETYLASPARTATE DEFICIENCY1
HP:0006919HP:0000718Aggressive behavior1NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0006919HP:0000718Aggressive behavior1NBEA CL E G H269607648OMIM:619157NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE3
HP:0006919HP:0100716Self-injurious behavior1NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY96
HP:0006919HP:0100716Self-injurious behavior1NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional
HP:0006919HP:0100716Self-injurious behavior1NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent
HP:0006919HP:0100716Self-injurious behavior1NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent
HP:0006919HP:0000718Aggressive behavior1NDP CL E G H46937678OMIM:310600Norrie disease.39
HP:0006919HP:0100716Self-injurious behavior1NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040283 - Occasional39
HP:0006919HP:0100716Self-injurious behavior1NDST1 CL E G H33407680OMIM:616116Mental retardation, autosomal recessive 4627
HP:0006919HP:0000718Aggressive behavior1NDST1 CL E G H33407680OMIM:616116Mental retardation, autosomal recessive 46.27
HP:0006919HP:0100716Self-injurious behavior1NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional
HP:0006919HP:0000718Aggressive behavior1NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0006919HP:0100716Self-injurious behavior1NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0006919HP:0000718Aggressive behavior1NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction.
HP:0006919HP:0000718Aggressive behavior1NFIB CL E G H47817785OMIM:618286Macrocephaly, acquired, with impaired intellectual developmentHP:0040284 - Very rare1
HP:0006919HP:0100716Self-injurious behavior1NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040283 - Occasional40
HP:0006919HP:0100716Self-injurious behavior1NIPA1 CL E G H12360617043ORPHA:26118315q11.2 microdeletion syndromeHP:0040283 - Occasional117
HP:0006919HP:0100716Self-injurious behavior1NIPA2 CL E G H8161417044ORPHA:26118315q11.2 microdeletion syndromeHP:0040283 - Occasional1
HP:0006919HP:0100716Self-injurious behavior1NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0006919HP:0000718Aggressive behavior1NKAP CL E G H7957629873OMIM:301039INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0006919HP:0000718Aggressive behavior1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0006919HP:0000718Aggressive behavior1NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0006919HP:0100716Self-injurious behavior1NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0006919HP:0000718Aggressive behavior1NRCAM CL E G H48977994OMIM:6198332
HP:0006919HP:0100716Self-injurious behavior1NRCAM CL E G H48977994OMIM:6198332
HP:0006919HP:0000718Aggressive behavior1NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040283 - Occasional544
HP:0006919HP:0000718Aggressive behavior1NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0006919HP:0000718Aggressive behavior1NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0006919HP:0000718Aggressive behavior1NSDHL CL E G H5081413398OMIM:300831Ck syndrome.34
HP:0006919HP:0000718Aggressive behavior1NSDHL CL E G H5081413398ORPHA:251383CK syndromeHP:0040282 - Frequent34
HP:0006919HP:0100716Self-injurious behavior1NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0006919HP:0100716Self-injurious behavior1NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0006919HP:0100716Self-injurious behavior1NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis97
HP:0006919HP:0100716Self-injurious behavior1OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional121
HP:0006919HP:0100716Self-injurious behavior1OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent121
HP:0006919HP:0100716Self-injurious behavior1OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent121
HP:0006919HP:0000718Aggressive behavior1OCRL CL E G H49528108OMIM:309000Lowe syndrome.88
HP:0006919HP:0100716Self-injurious behavior1OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040282 - Frequent88
HP:0006919HP:0000718Aggressive behavior1ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0006919HP:0100716Self-injurious behavior1ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040283 - Occasional1
HP:0006919HP:0000718Aggressive behavior1ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040282 - Frequent1
HP:0006919HP:0100716Self-injurious behavior1OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0006919HP:0000718Aggressive behavior1PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome.24
HP:0006919HP:0100716Self-injurious behavior1PAH CL E G H50538582ORPHA:79254Classic phenylketonuriaHP:0040283 - Occasional641
HP:0006919HP:0000718Aggressive behavior1PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0006919HP:0008760Violent behavior1PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040282 - Frequent55
HP:0006919HP:0000718Aggressive behavior1PCDH19 CL E G H5752614270OMIM:300088Epileptic encephalopathy, early infantile, 9.225
HP:0006919HP:0000718Aggressive behavior1PCDH19 CL E G H5752614270ORPHA:101039Female restricted epilepsy with intellectual disabilityHP:0040282 - Frequent225
HP:0006919HP:0000718Aggressive behavior1PDE2A CL E G H51388777OMIM:619150INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0006919HP:0100716Self-injurious behavior1PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0006919HP:0000718Aggressive behavior1PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features.11
HP:0006919HP:0000718Aggressive behavior1PIDD1 CL E G H5536716491OMIM:619827INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0006919HP:0100716Self-injurious behavior1PIDD1 CL E G H5536716491OMIM:619827INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0006919HP:0100716Self-injurious behavior1PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0006919HP:0000718Aggressive behavior1PIGH CL E G H52838964OMIM:618010Glycosylphosphatidylinositol biosynthesis defect 17.1
HP:0006919HP:0008760Violent behavior1PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome.36
HP:0006919HP:0100716Self-injurious behavior1PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional2
HP:0006919HP:0100716Self-injurious behavior1PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0006919HP:0000718Aggressive behavior1PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 6.2
HP:0006919HP:0000718Aggressive behavior1PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive.133
HP:0006919HP:0100716Self-injurious behavior1PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional244
HP:0006919HP:0000718Aggressive behavior1POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0006919HP:0100716Self-injurious behavior1POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040284 - Very rare35
HP:0006919HP:0100716Self-injurious behavior1POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome.35
HP:0006919HP:0000718Aggressive behavior1POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040283 - Occasional35
HP:0006919HP:0000718Aggressive behavior1POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040282 - Frequent
HP:0006919HP:0000718Aggressive behavior1PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040282 - Frequent10
HP:0006919HP:0100716Self-injurious behavior1PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent148
HP:0006919HP:0000718Aggressive behavior1PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0006919HP:0100716Self-injurious behavior1PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0006919HP:0000718Aggressive behavior1PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease.69
HP:0006919HP:0000718Aggressive behavior1PRNP CL E G H56219449OMIM:603218Huntington disease-like 1.69
HP:0006919HP:0000718Aggressive behavior1PRODH CL E G H56259453OMIM:239500Hyperprolinemia, type I.13
HP:0006919HP:0000718Aggressive behavior1PRRT2 CL E G H11247630500ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040283 - Occasional94
HP:0006919HP:0000718Aggressive behavior1PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent241
HP:0006919HP:0000718Aggressive behavior1PSMB1 CL E G H56899537OMIM:6200382
HP:0006919HP:0000718Aggressive behavior1PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040283 - Occasional4
HP:0006919HP:0000718Aggressive behavior1PTCHD1 CL E G H13941126392OMIM:300830Autism, susceptibility to, X-linked 4.34
HP:0006919HP:0000718Aggressive behavior1PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeHP:0040283 - Occasional1
HP:0006919HP:0000718Aggressive behavior1PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature.
HP:0006919HP:0100716Self-injurious behavior1PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0006919HP:0100716Self-injurious behavior1PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0006919HP:0000718Aggressive behavior1PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040283 - Occasional11
HP:0006919HP:0100716Self-injurious behavior1RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent150
HP:0006919HP:0100716Self-injurious behavior1RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0006919HP:0000718Aggressive behavior1RBBP8 CL E G H59329891OMIM:251255Jawad syndrome.68
HP:0006919HP:0100716Self-injurious behavior1RBL2 CL E G H59349894OMIM:619690BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0006919HP:0100716Self-injurious behavior1RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent16
HP:0006919HP:0100716Self-injurious behavior1RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040283 - Occasional16
HP:0006919HP:0000718Aggressive behavior1RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0006919HP:0100716Self-injurious behavior1RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0006919HP:0100716Self-injurious behavior1RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0006919HP:0000718Aggressive behavior1RORB CL E G H609610259OMIM:618357Epilepsy, idiopathic generalized, susceptibility to, 15.3
HP:0006919HP:0100716Self-injurious behavior1RPL10 CL E G H613410298ORPHA:435938X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndromeHP:0040282 - Frequent10
HP:0006919HP:0100716Self-injurious behavior1RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040283 - Occasional65
HP:0006919HP:0100716Self-injurious behavior1RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0006919HP:0000718Aggressive behavior1RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61.
HP:0006919HP:0000718Aggressive behavior1SARS1 CL E G H630110537OMIM:617709Neurodevelopmental disorder with microcephaly, ataxia, and seizures.
HP:0006919HP:0000718Aggressive behavior1SASS6 CL E G H16378625403OMIM:616402Microcephaly 14, primary, autosomal recessive.4
HP:0006919HP:0000718Aggressive behavior1SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040283 - Occasional34
HP:0006919HP:0000718Aggressive behavior1SATB2 CL E G H2331421637OMIM:612313Glass syndrome.34
HP:0006919HP:0000718Aggressive behavior1SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040282 - Frequent34
HP:0006919HP:0100716Self-injurious behavior1SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement34
HP:0006919HP:0000718Aggressive behavior1SCN1A CL E G H632310585ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent1053
HP:0006919HP:0100716Self-injurious behavior1SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional126
HP:0006919HP:0100716Self-injurious behavior1SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional427
HP:0006919HP:0100716Self-injurious behavior1SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0006919HP:0000718Aggressive behavior1SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0006919HP:0000718Aggressive behavior1SETD1A CL E G H973929010OMIM:619056NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID6
HP:0006919HP:0000718Aggressive behavior1SETD2 CL E G H2907218420OMIM:616831Luscan-Lumish syndrome60
HP:0006919HP:0000718Aggressive behavior1SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040283 - Occasional60
HP:0006919HP:0000718Aggressive behavior1SH2B1 CL E G H2597030417ORPHA:329249Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiencyHP:0040282 - Frequent
HP:0006919HP:0100716Self-injurious behavior1SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.353
HP:0006919HP:0000718Aggressive behavior1SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0006919HP:0000718Aggressive behavior1SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0006919HP:0100716Self-injurious behavior1SHQ1 CL E G H5516425543OMIM:619922
HP:0006919HP:0100716Self-injurious behavior1SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional11
HP:0006919HP:0100716Self-injurious behavior1SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndrome40
HP:0006919HP:0000718Aggressive behavior1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0006919HP:0100716Self-injurious behavior1SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent150
HP:0006919HP:0000718Aggressive behavior1SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional63
HP:0006919HP:0100716Self-injurious behavior1SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome4
HP:0006919HP:0000718Aggressive behavior1SLC25A13 CL E G H1016510983ORPHA:247585Citrullinemia type IIHP:0040282 - Frequent82
HP:0006919HP:0100716Self-injurious behavior1SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0006919HP:0000718Aggressive behavior1SLC2A1 CL E G H651311005ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040283 - Occasional255
HP:0006919HP:0000718Aggressive behavior1SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040282 - Frequent1
HP:0006919HP:0000718Aggressive behavior1SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 2HP:0040283 - Occasional47
HP:0006919HP:0000718Aggressive behavior1SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 48.12
HP:0006919HP:0100716Self-injurious behavior1SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 4812
HP:0006919HP:0000718Aggressive behavior1SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndromeHP:0040282 - Frequent12
HP:0006919HP:0100716Self-injurious behavior1SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome12
HP:0006919HP:0100716Self-injurious behavior1SLC6A4 CL E G H653211050OMIM:164230Obsessive-Compulsive disorder 152
HP:0006919HP:0000718Aggressive behavior1SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122
HP:0006919HP:0100716Self-injurious behavior1SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiency122
HP:0006919HP:0100716Self-injurious behavior1SLITRK1 CL E G H11479820297OMIM:137580Gilles de la tourette syndrome58
HP:0006919HP:0000718Aggressive behavior1SLITRK1 CL E G H11479820297OMIM:137580Gilles de la tourette syndrome.58
HP:0006919HP:0100716Self-injurious behavior1SLITRK1 CL E G H11479820297OMIM:613229TRICHOTILLOMANIA58
HP:0006919HP:0000718Aggressive behavior1SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome.146
HP:0006919HP:0000718Aggressive behavior1SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional617
HP:0006919HP:0000718Aggressive behavior1SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional87
HP:0006919HP:0000718Aggressive behavior1SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional1
HP:0006919HP:0100716Self-injurious behavior1SMARCC2 CL E G H660111105OMIM:618362Coffin-Siris syndrome 8.1
HP:0006919HP:0000718Aggressive behavior1SMARCC2 CL E G H660111105OMIM:618362Coffin-Siris syndrome 8.1
HP:0006919HP:0000718Aggressive behavior1SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional
HP:0006919HP:0000718Aggressive behavior1SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional47
HP:0006919HP:0100716Self-injurious behavior1SMG8 CL E G H5518125551OMIM:619268ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0006919HP:0100716Self-injurious behavior1SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0006919HP:0100716Self-injurious behavior1SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0006919HP:0100716Self-injurious behavior1SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional37
HP:0006919HP:0100716Self-injurious behavior1SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent37
HP:0006919HP:0100716Self-injurious behavior1SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent37
HP:0006919HP:0100716Self-injurious behavior1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0006919HP:0000718Aggressive behavior1SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional14
HP:0006919HP:0000718Aggressive behavior1SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional
HP:0006919HP:0000718Aggressive behavior1SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiencyHP:0040283 - Occasional11
HP:0006919HP:0100716Self-injurious behavior1SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiencyHP:0040283 - Occasional11
HP:0006919HP:0000718Aggressive behavior1SPAST CL E G H668311233OMIM:182601Spastic paraplegia 4, autosomal dominant.208
HP:0006919HP:0100716Self-injurious behavior1SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040284 - Very rare19
HP:0006919HP:0100716Self-injurious behavior1SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent4
HP:0006919HP:0000718Aggressive behavior1SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0006919HP:0100716Self-injurious behavior1SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0006919HP:0000718Aggressive behavior1SPR CL E G H669711257OMIM:612716Dystonia, dopa-responsive, due to sepiapterin reductase deficiency.28
HP:0006919HP:0000718Aggressive behavior1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0006919HP:0008760Violent behavior1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0006919HP:0000718Aggressive behavior1SQSTM1 CL E G H887811280ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent62
HP:0006919HP:0000718Aggressive behavior1SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0006919HP:0000718Aggressive behavior1SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0006919HP:0000718Aggressive behavior1STEEP1 CL E G H6393226239OMIM:301013MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0006919HP:0000718Aggressive behavior1STT3A CL E G H37036172OMIM:619714CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD21
HP:0006919HP:0000718Aggressive behavior1SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040283 - Occasional60
HP:0006919HP:0100716Self-injurious behavior1SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0006919HP:0000718Aggressive behavior1SYN1 CL E G H685311494OMIM:300491Epilepsy, X-linked, with variable learning disabilities and behavior disorders.58
HP:0006919HP:0000718Aggressive behavior1SYN1 CL E G H685311494ORPHA:85294X-linked epilepsy-learning disabilities-behavior disorders syndromeHP:0040281 - Very frequent58
HP:0006919HP:0100716Self-injurious behavior1SYT1 CL E G H685711509OMIM:618218Baker-Gordon syndrome.1
HP:0006919HP:0100716Self-injurious behavior1SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1
HP:0006919HP:0100716Self-injurious behavior1TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0006919HP:0000718Aggressive behavior1TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 17.7
HP:0006919HP:0000718Aggressive behavior1TBX1 CL E G H689911592OMIM:192430Velocardiofacial syndrome.32
HP:0006919HP:0000718Aggressive behavior1TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities.1
HP:0006919HP:0100716Self-injurious behavior1TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome241
HP:0006919HP:0100716Self-injurious behavior1TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040283 - Occasional241
HP:0006919HP:0000718Aggressive behavior1TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040283 - Occasional241
HP:0006919HP:0000718Aggressive behavior1TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0006919HP:0100716Self-injurious behavior1THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndrome5
HP:0006919HP:0000718Aggressive behavior1TIMM50 CL E G H9260923656ORPHA:5052163-methylglutaconic aciduria type 9HP:0040281 - Very frequent1
HP:0006919HP:0000718Aggressive behavior1TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX.1
HP:0006919HP:0100716Self-injurious behavior1TKT CL E G H708611834OMIM:617044Short stature, developmental delay, and congenital heart defects.4
HP:0006919HP:0100716Self-injurious behavior1TKT CL E G H708611834ORPHA:488618Transketolase deficiencyHP:0040283 - Occasional4
HP:0006919HP:0100716Self-injurious behavior1TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0006919HP:0000718Aggressive behavior1TMEM106B CL E G H5466422407ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent
HP:0006919HP:0000718Aggressive behavior1TMEM147 CL E G H1043030414OMIM:620075
HP:0006919HP:0100716Self-injurious behavior1TMEM147 CL E G H1043030414OMIM:620075
HP:0006919HP:0000718Aggressive behavior1TMEM222 CL E G H8406525363OMIM:619470NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0006919HP:0100716Self-injurious behavior1TMEM231 CL E G H7958337234OMIM:614970Joubert syndrome 2033
HP:0006919HP:0000718Aggressive behavior1TMEM231 CL E G H7958337234OMIM:614970Joubert syndrome 20HP:0040282 - Frequent33
HP:0006919HP:0000718Aggressive behavior1TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 21.9
HP:0006919HP:0000718Aggressive behavior1TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0006919HP:0000718Aggressive behavior1TRAPPC10 CL E G H710911868OMIM:6200271
HP:0006919HP:0000718Aggressive behavior1TREM2 CL E G H5420917761ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent31
HP:0006919HP:0100716Self-injurious behavior1TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0006919HP:0100716Self-injurious behavior1TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional1
HP:0006919HP:0000718Aggressive behavior1TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0006919HP:0000718Aggressive behavior1TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 44.8
HP:0006919HP:0100716Self-injurious behavior1TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0006919HP:0100716Self-injurious behavior1TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome8
HP:0006919HP:0000718Aggressive behavior1TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0006919HP:0000718Aggressive behavior1TRIP12 CL E G H932012306OMIM:617752Mental retardation, autosomal dominant 49.2
HP:0006919HP:0000718Aggressive behavior1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0006919HP:0100716Self-injurious behavior1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0006919HP:0000718Aggressive behavior1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0006919HP:0100716Self-injurious behavior1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0006919HP:0000718Aggressive behavior1TTC19 CL E G H5490226006OMIM:615157Mitochondrial complex III deficiency, nuclear type 2.88
HP:0006919HP:0000718Aggressive behavior1TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0006919HP:0000718Aggressive behavior1TTI2 CL E G H8018526262OMIM:615541Mental retardation, autosomal recessive 39.11
HP:0006919HP:0000718Aggressive behavior1TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromeHP:0040282 - Frequent11
HP:0006919HP:0100716Self-injurious behavior1TUBG1 CL E G H728312417ORPHA:26118315q11.2 microdeletion syndromeHP:0040283 - Occasional14
HP:0006919HP:0000718Aggressive behavior1TYROBP CL E G H730512449OMIM:221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.22
HP:0006919HP:0000718Aggressive behavior1UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0006919HP:0100716Self-injurious behavior1UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0006919HP:0000718Aggressive behavior1UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040282 - Frequent7
HP:0006919HP:0000718Aggressive behavior1UBE4A CL E G H935412499OMIM:619639NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS1
HP:0006919HP:0100716Self-injurious behavior1UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0006919HP:0000718Aggressive behavior1UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderHP:0040283 - Occasional1
HP:0006919HP:0100716Self-injurious behavior1UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040283 - Occasional23
HP:0006919HP:0000718Aggressive behavior1UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 7.7
HP:0006919HP:0000718Aggressive behavior1UROC1 CL E G H13166926444OMIM:276880Urocanase deficiency.8
HP:0006919HP:0000718Aggressive behavior1USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0006919HP:0100716Self-injurious behavior1USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndrome2
HP:0006919HP:0000718Aggressive behavior1USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome2
HP:0006919HP:0000718Aggressive behavior1USP9X CL E G H823912632OMIM:300919MENTAL RETARDATION, X-LINKED 99; MRX9927
HP:0006919HP:0100716Self-injurious behavior1VAMP2 CL E G H684412643OMIM:618760NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0006919HP:0000718Aggressive behavior1VCP CL E G H741512666ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent63
HP:0006919HP:0100716Self-injurious behavior1VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS130
HP:0006919HP:0000718Aggressive behavior1VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0006919HP:0100716Self-injurious behavior1VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0006919HP:0000718Aggressive behavior1VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS.130
HP:0006919HP:0000718Aggressive behavior1VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0006919HP:0000718Aggressive behavior1WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome.20
HP:0006919HP:0000718Aggressive behavior1WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionHP:0040282 - Frequent20
HP:0006919HP:0000718Aggressive behavior1WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0006919HP:0100716Self-injurious behavior1WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0006919HP:0000718Aggressive behavior1WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures.2
HP:0006919HP:0000718Aggressive behavior1WARS2 CL E G H1035212730OMIM:619738PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS32
HP:0006919HP:0000718Aggressive behavior1WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040282 - Frequent2
HP:0006919HP:0100716Self-injurious behavior1WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0006919HP:0100716Self-injurious behavior1WASHC4 CL E G H2332529174OMIM:615817Mental retardation, autosomal recessive 4325
HP:0006919HP:0000718Aggressive behavior1WDR45 CL E G H1115228912ORPHA:329284Beta-propeller protein-associated neurodegenerationHP:0040283 - Occasional51
HP:0006919HP:0000718Aggressive behavior1WDR45 CL E G H1115228912OMIM:300894Neurodegeneration with brain iron accumulation 5HP:0040283 - Occasional51
HP:0006919HP:0000718Aggressive behavior1WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations.224
HP:0006919HP:0100716Self-injurious behavior1WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations224
HP:0006919HP:0000718Aggressive behavior1ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0006919HP:0100716Self-injurious behavior1ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0006919HP:0000718Aggressive behavior1ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0006919HP:0000718Aggressive behavior1ZMYND11 CL E G H1077116966OMIM:616083Mental retardation, autosomal dominant 30.24
HP:0006919HP:0000742Self-mutilation2ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0006919HP:0000742Self-mutilation2ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 3696
HP:0006919HP:0000742Self-mutilation2ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0006919HP:0012169Self-biting2ATP1A1 CL E G H476799OMIM:618314Hypomagnesemia, seizures, and mental retardation 2.4
HP:0006919HP:0000742Self-mutilation2AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I49
HP:0006919HP:0000742Self-mutilation2BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0006919HP:0000742Self-mutilation2CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 591
HP:0006919HP:0012169Self-biting2CEP104 CL E G H973124866OMIM:6199885
HP:0006919HP:0012166Skin-picking2CHD5 CL E G H2603816816OMIM:619873
HP:0006919HP:0000742Self-mutilation2CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0006919HP:0000742Self-mutilation2CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disabilityHP:0040282 - Frequent6
HP:0006919HP:0000742Self-mutilation2CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0006919HP:0012166Skin-picking2CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0006919HP:0000742Self-mutilation2CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0006919HP:0000742Self-mutilation2CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects88
HP:0006919HP:0000742Self-mutilation2DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0006919HP:0012169Self-biting2DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 194
HP:0006919HP:0012168Head-banging2DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040284 - Very rare38
HP:0006919HP:0000742Self-mutilation2DPYD CL E G H18063012ORPHA:2939481p21.3 microdeletion syndromeHP:0040283 - Occasional144
HP:0006919HP:0012167Hair-pulling2EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 3860
HP:0006919HP:0000742Self-mutilation2EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0006919HP:0012169Self-biting2FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndrome30
HP:0006919HP:0000742Self-mutilation2GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040283 - Occasional33
HP:0006919HP:0000742Self-mutilation2GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0006919HP:0000742Self-mutilation2GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0006919HP:0000742Self-mutilation2H4C5 CL E G H83674790OMIM:619950
HP:0006919HP:0000742Self-mutilation2HDC CL E G H30674855OMIM:137580Gilles de la tourette syndrome.1
HP:0006919HP:0000742Self-mutilation2HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0006919HP:0012166Skin-picking2HTR2A CL E G H33565293OMIM:164230Obsessive-Compulsive disorder 14
HP:0006919HP:0000742Self-mutilation2INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1.111
HP:0006919HP:0012168Head-banging2KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0006919HP:0012166Skin-picking2KMT2E CL E G H5590418541OMIM:618512O'donnell-Luria-Rodan syndrome.1
HP:0006919HP:0000742Self-mutilation2LARP7 CL E G H5157424912ORPHA:319671Alazami syndromeHP:0040283 - Occasional16
HP:0006919HP:0000742Self-mutilation2MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0006919HP:0000742Self-mutilation2MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0006919HP:0012166Skin-picking2MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040282 - Frequent63
HP:0006919HP:0012166Skin-picking2MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional63
HP:0006919HP:0012166Skin-picking2MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0006919HP:0012166Skin-picking2MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent63
HP:0006919HP:0012166Skin-picking2MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome63
HP:0006919HP:0012168Head-banging2MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0006919HP:0000742Self-mutilation2MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0006919HP:0000742Self-mutilation2MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 3913
HP:0006919HP:0000742Self-mutilation2NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0006919HP:0000742Self-mutilation2NAT8L CL E G H33998326742OMIM:614063N-ACETYLASPARTATE DEFICIENCY.1
HP:0006919HP:0000742Self-mutilation2NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY.96
HP:0006919HP:0012166Skin-picking2NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional
HP:0006919HP:0012166Skin-picking2NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent
HP:0006919HP:0012166Skin-picking2NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent
HP:0006919HP:0012169Self-biting2NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0006919HP:0000742Self-mutilation2NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040281 - Very frequent97
HP:0006919HP:0012169Self-biting2NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0006919HP:0000742Self-mutilation2NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis.97
HP:0006919HP:0012166Skin-picking2OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional121
HP:0006919HP:0012166Skin-picking2OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent121
HP:0006919HP:0012166Skin-picking2OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent121
HP:0006919HP:0000742Self-mutilation2OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0006919HP:0012169Self-biting2PIDD1 CL E G H5536716491OMIM:619827INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0006919HP:0012168Head-banging2PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0006919HP:0000742Self-mutilation2RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0006919HP:0012168Head-banging2RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome.150
HP:0006919HP:0000742Self-mutilation2RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0006919HP:0000742Self-mutilation2SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0006919HP:0012167Hair-pulling2SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040283 - Occasional53
HP:0006919HP:0012166Skin-picking2SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040282 - Frequent40
HP:0006919HP:0012167Hair-pulling2SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040283 - Occasional4
HP:0006919HP:0000742Self-mutilation2SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 48.12
HP:0006919HP:0000742Self-mutilation2SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndromeHP:0040282 - Frequent12
HP:0006919HP:0012166Skin-picking2SLC6A4 CL E G H653211050OMIM:164230Obsessive-Compulsive disorder 152
HP:0006919HP:0000742Self-mutilation2SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiencyHP:0040282 - Frequent122
HP:0006919HP:0000742Self-mutilation2SLITRK1 CL E G H11479820297OMIM:137580Gilles de la tourette syndrome.58
HP:0006919HP:0012167Hair-pulling2SLITRK1 CL E G H11479820297OMIM:613229TRICHOTILLOMANIA.58
HP:0006919HP:0000742Self-mutilation2SMG8 CL E G H5518125551OMIM:619268ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0006919HP:0012166Skin-picking2SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional37
HP:0006919HP:0012166Skin-picking2SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent37
HP:0006919HP:0012166Skin-picking2SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent37
HP:0006919HP:0012166Skin-picking2SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0006919HP:0012168Head-banging2SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0006919HP:0012168Head-banging2SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0006919HP:0012169Self-biting2SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0006919HP:0000742Self-mutilation2SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0006919HP:0012168Head-banging2TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0006919HP:0000742Self-mutilation2THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndromeHP:0040283 - Occasional5
HP:0006919HP:0000742Self-mutilation2TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndromeHP:0040283 - Occasional6
HP:0006919HP:0000742Self-mutilation2TMEM231 CL E G H7958337234OMIM:614970Joubert syndrome 20HP:0040282 - Frequent33
HP:0006919HP:0000742Self-mutilation2TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0006919HP:0000742Self-mutilation2TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0006919HP:0012166Skin-picking2USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0006919HP:0000742Self-mutilation2VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS130
HP:0006919HP:0012168Head-banging2VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0006919HP:0000742Self-mutilation2VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0006919HP:0012167Hair-pulling2VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0006919HP:0000742Self-mutilation2WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations224
HP:0006919HP:0012170Nail-biting3NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040282 - Frequent97
HP:0006919HP:0012170Nail-biting3PIDD1 CL E G H5536716491OMIM:619827INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0006919HP:0008767Self-mutilation of tongue and lips due to involuntary movements3VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS.130
HP:0006919HP:0008767Self-mutilation of tongue and lips due to involuntary movements3VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130


Genes (386) :ABCA12 ABCA2 ADAT3 ADNP ADSL AFF2 AGO2 ALDH4A1 ALDH5A1 ALG13 ALG14 AMT ANK3 AP1G1 AP1S2 APC2 ARID1A ARID1B ARID2 ARPC4 ARX ASXL3 ATG7 ATP13A2 ATP1A1 ATP1A2 ATP1A3 ATP6V0A1 ATP7B ATRX ATXN10 AUH BCAP31 BCOR BCORL1 BPTF BRF1 C12ORF4 C9ORF72 CACNA1A CACNB4 CAMK2B CAMK2G CAMTA1 CASK CASZ1 CDC42BPB CDH2 CDKL5 CEP104 CEP152 CEP290 CEP85L CHD2 CHD5 CHD7 CHKA CHMP2B CILK1 CLCN2 CLCN3 CLCN4 CLN3 CLN5 CLTCL1 CNTNAP2 CRBN CREBBP CTNNB1 CUL4B CUX2 CYP27A1 DCDC2 DCHS1 DDX3X DEAF1 DGCR2 DGCR6 DGCR8 DHCR7 DMXL2 DNM1 DNM1L DNMT3A DPAGT1 DPF2 DPYD DPYSL5 DYNC1I2 DYRK1A EBP ECM1 EEF1A2 EFHC1 EHMT1 EIF2S3 ELP2 ENTPD1 EP300 ESS2 FAT4 FBXL3 FBXW11 FGF14 FIG4 FLII FMO3 FMR1 FOXP1 FRMPD4 FRRS1L FTSJ1 GABBR2 GABRA1 GABRB3 GABRD GAMT GATAD2B GCSH GJA5 GJA8 GJB2 GLDC GLS GNAO1 GNB1 GNS GRIA1 GRIA2 GRIA3 GRIK2 GRIN1 GRIN2A GRM7 GRN H4C5 HDAC4 HDC HECW2 HEPHL1 HERC2 HIVEP2 HNRNPH2 HPRT1 HSD17B10 HSPG2 HTR2A HTRA1 HTT IFNG IMPA1 INPP5E IPW IQSEC1 IQSEC2 JRK KARS1 KAT5 KCNA1 KCNAB2 KCNQ3 KCNT1 KDM3B KDM4B KDM5B KDM5C KIF11 KIF15 KIF5C KMT2A KMT2C KMT2E KMT5B KNL1 KPTN LARP7 LEPR LINGO1 LINS1 LMAN2L LUZP1 MAB21L1 MADD MAGEL2 MAN1B1 MANBA MAOA MAPK1 MAPK10 MAPT MBD5 MECP2 MED12 MED12L MED13L MED25 METTL5 MGAT2 MKRN3 MKRN3-AS1 MMP23B MYT1L NAA10 NAGLU NAGS NALCN NAT8L NAXD NBEA NDE1 NDN NDP NDST1 NEUROD2 NEXMIF NFASC NFIB NFIX NIPA1 NIPA2 NIPBL NKAP NONO NPAP1 NRCAM NSD1 NSD2 NSDHL NTNG2 NTRK1 OCA2 OCRL ODC1 OPHN1 PACS1 PAH PAK3 PANK2 PCDH19 PDE2A PDPN PHIP PIDD1 PIGF PIGH PIGL PIGP PIGQ PIGY PLA2G6 PNKP POGZ POU4F1 PPP2R5D PRDM16 PRKAR1B PRKCZ PRNP PRODH PRRT2 PSEN1 PSMB1 PSMD12 PTCHD1 PUS3 PUS7 PWAR1 PWRN1 PYCR2 RAI1 RBBP8 RBL2 RERE RLIM RNU7-1 RORB RPL10 RPS6KA3 RTTN RUSC2 SARS1 SASS6 SATB2 SCN1A SCN1B SCN2A SETBP1 SETD1A SETD2 SH2B1 SHANK3 SHMT2 SHQ1 SIK1 SIM1 SIN3A SKI SLC1A3 SLC1A4 SLC25A13 SLC25A22 SLC2A1 SLC2A3 SLC52A2 SLC6A17 SLC6A4 SLC6A8 SLITRK1 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMG8 SNORD115-1 SNORD116-1 SNRPN SOX11 SOX4 SOX5 SPAST SPATA5 SPEN SPOP SPR SPTBN1 SQSTM1 SRCAP STEEP1 STT3A SUCLG1 SVBP SYN1 SYT1 TAOK1 TBP TBX1 TCF20 TCF4 TFE3 THOC2 TIMM50 TKT TMCO1 TMEM106B TMEM147 TMEM222 TMEM231 TMEM240 TMEM67 TRAPPC10 TREM2 TREX1 TRIM8 TRIO TRIP12 TSC1 TSC2 TTC19 TTC5 TTI2 TUBG1 TYROBP UBE2A UBE4A UBE4B UBTF UNC80 UQCC2 UROC1 USP7 USP9X VAMP2 VCP VPS13A VPS16 WAC WARS2 WASF1 WASHC4 WDR45 WDR62 ZBTB20 ZMIZ1 ZMYND11

Diseases (379) :ORPHA:457 OMIM:618808 ORPHA:363528 OMIM:615286 ORPHA:404448 OMIM:103050 ORPHA:100973 OMIM:309548 OMIM:619149 ORPHA:79101 OMIM:271980 OMIM:300884 OMIM:619031 OMIM:605899 ORPHA:356996 OMIM:615493 OMIM:619467 OMIM:619548 ORPHA:85335 OMIM:304340 ORPHA:85329 ORPHA:821 ORPHA:1465 OMIM:135900 OMIM:620141 ORPHA:1934 OMIM:615485 OMIM:619422 OMIM:606693 OMIM:617225 OMIM:618314 ORPHA:2131 OMIM:619970 ORPHA:905 ORPHA:847 ORPHA:98761 OMIM:250950 ORPHA:369939 ORPHA:568 OMIM:309800 OMIM:301029 ORPHA:529962 OMIM:616202 OMIM:618221 ORPHA:275864 ORPHA:2382 ORPHA:307 OMIM:617799 OMIM:618522 OMIM:614756 ORPHA:314647 ORPHA:1606 OMIM:619841 OMIM:618929 OMIM:619988 OMIM:614852 OMIM:610188 OMIM:618873 OMIM:619873 OMIM:214800 OMIM:620023 OMIM:600795 OMIM:619512 ORPHA:485350 OMIM:300114 ORPHA:228346 ORPHA:228360 ORPHA:453510 ORPHA:163681 OMIM:610042 OMIM:607417 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:615075 ORPHA:404473 OMIM:300354 ORPHA:85293 ORPHA:909 ORPHA:84081 ORPHA:314679 OMIM:300958 ORPHA:457260 OMIM:617171 ORPHA:468620 OMIM:615828 ORPHA:819 OMIM:192430 ORPHA:818 OMIM:270400 OMIM:616346 OMIM:614388 ORPHA:404443 OMIM:608093 ORPHA:86309 ORPHA:293948 ORPHA:1675 OMIM:619435 OMIM:618492 ORPHA:268261 ORPHA:401973 OMIM:247100 OMIM:616409 OMIM:616393 OMIM:610253 ORPHA:261652 OMIM:300148 OMIM:617270 ORPHA:401810 OMIM:615683 ORPHA:353284 OMIM:606220 OMIM:618914 ORPHA:98764 ORPHA:208441 OMIM:612691 ORPHA:468726 OMIM:300624 ORPHA:908 ORPHA:449291 OMIM:613670 OMIM:300983 ORPHA:725 OMIM:309549 OMIM:617904 OMIM:612736 ORPHA:382 ORPHA:363686 OMIM:612474 ORPHA:494 OMIM:618339 OMIM:617493 OMIM:616973 OMIM:252940 OMIM:619931 OMIM:618917 OMIM:300699 ORPHA:364028 OMIM:619580 ORPHA:208447 OMIM:614254 OMIM:617820 ORPHA:98818 OMIM:618922 OMIM:619950 OMIM:600430 OMIM:137580 OMIM:617268 OMIM:261990 OMIM:615516 OMIM:176270 OMIM:616977 OMIM:300986 OMIM:300322 OMIM:300438 OMIM:164230 ORPHA:199354 ORPHA:399 ORPHA:805 OMIM:617323 OMIM:213300 ORPHA:75858 OMIM:618687 OMIM:309530 ORPHA:397933 OMIM:613641 OMIM:619103 OMIM:615005 OMIM:618846 OMIM:619320 OMIM:618109 OMIM:300534 ORPHA:85279 OMIM:152950 ORPHA:261323 OMIM:615282 ORPHA:319182 OMIM:605130 OMIM:617768 OMIM:618512 OMIM:617788 OMIM:604321 ORPHA:397612 OMIM:615637 ORPHA:319671 OMIM:614963 OMIM:618103 OMIM:614340 OMIM:616887 OMIM:618479 OMIM:619004 OMIM:619005 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615547 OMIM:614202 OMIM:248510 OMIM:300615 OMIM:619087 ORPHA:228402 OMIM:156200 ORPHA:3077 OMIM:309520 OMIM:618872 ORPHA:369891 ORPHA:464738 OMIM:618665 OMIM:212066 OMIM:616521 OMIM:252920 OMIM:237310 ORPHA:371364 OMIM:614063 OMIM:618321 OMIM:619157 OMIM:605013 ORPHA:649 OMIM:310600 OMIM:616116 OMIM:300912 OMIM:618356 OMIM:618286 ORPHA:447980 ORPHA:261183 OMIM:122470 OMIM:301039 ORPHA:466791 OMIM:300967 OMIM:619833 OMIM:117550 OMIM:619695 ORPHA:251383 OMIM:300831 OMIM:618718 ORPHA:642 OMIM:256800 OMIM:309000 ORPHA:534 OMIM:619075 ORPHA:544488 OMIM:300486 OMIM:615009 ORPHA:79254 OMIM:300558 ORPHA:216873 OMIM:300088 ORPHA:101039 OMIM:619150 OMIM:617991 OMIM:619827 OMIM:619356 OMIM:618010 OMIM:280000 OMIM:616809 OMIM:612953 ORPHA:468678 OMIM:616364 ORPHA:457279 OMIM:619680 OMIM:137440 OMIM:603218 OMIM:239500 ORPHA:98811 OMIM:620038 OMIM:300830 ORPHA:488627 OMIM:618342 ORPHA:481152 OMIM:182290 OMIM:251255 OMIM:619690 ORPHA:494344 OMIM:300978 OMIM:619487 OMIM:618357 ORPHA:435938 ORPHA:192 ORPHA:468631 OMIM:617773 OMIM:617709 OMIM:616402 ORPHA:251019 OMIM:612313 ORPHA:251028 OMIM:616078 OMIM:619056 OMIM:616831 ORPHA:329249 ORPHA:48652 OMIM:606232 OMIM:619121 OMIM:619922 ORPHA:398079 OMIM:613406 ORPHA:447997 ORPHA:247585 OMIM:614707 OMIM:616269 ORPHA:457212 OMIM:300352 ORPHA:52503 OMIM:613229 OMIM:601358 OMIM:618362 OMIM:619268 ORPHA:177907 ORPHA:313892 OMIM:182601 ORPHA:457351 OMIM:619312 OMIM:618828 OMIM:612716 OMIM:619475 ORPHA:2044 OMIM:136140 OMIM:301013 OMIM:619714 ORPHA:17 OMIM:618569 OMIM:300491 ORPHA:85294 OMIM:618218 ORPHA:522077 OMIM:619575 OMIM:607136 OMIM:618430 OMIM:610954 ORPHA:2896 OMIM:301066 ORPHA:457240 ORPHA:505216 OMIM:617698 OMIM:617044 ORPHA:488618 OMIM:213980 OMIM:620075 OMIM:619470 OMIM:614970 OMIM:607454 OMIM:620027 OMIM:225750 OMIM:618825 OMIM:617061 ORPHA:476126 OMIM:617752 OMIM:615157 OMIM:619244 OMIM:615541 ORPHA:391307 OMIM:221770 OMIM:300860 ORPHA:163956 OMIM:619639 ORPHA:500180 OMIM:615824 OMIM:276880 ORPHA:500055 OMIM:616863 OMIM:300919 OMIM:618760 ORPHA:2388 OMIM:200150 OMIM:619291 OMIM:616708 ORPHA:284169 ORPHA:466950 OMIM:617710 OMIM:619738 ORPHA:572798 OMIM:618707 OMIM:615817 ORPHA:329284 OMIM:300894 OMIM:604317 OMIM:259050 OMIM:618659 OMIM:616083
 

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