Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:457 | Harlequin ichthyosis | | | | 130 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ABCA2 CL E G H | 20 | 32 | OMIM:618808 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | | | | 9 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ADAT3 CL E G H | 113179 | 25151 | OMIM:615286 | Mental retardation, autosomal recessive 36 | | | | 9 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | | | | 47 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ADSL CL E G H | 158 | 291 | OMIM:103050 | Adenylosuccinase deficiency | | | | 118 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | AFF2 CL E G H | 2334 | 3776 | ORPHA:100973 | FRAXE intellectual disability | | | | 59 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | AFF2 CL E G H | 2334 | 3776 | OMIM:309548 | Mental retardation, X-linked, associated with fragile site fraxe | | | | 59 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | AGO2 CL E G H | 27161 | 3263 | OMIM:619149 | LESSEL-KREIENKAMP SYNDROME; LESKRES | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ALDH4A1 CL E G H | 8659 | 406 | ORPHA:79101 | Hyperprolinemia type 2 | | | | 74 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ALDH5A1 CL E G H | 7915 | 408 | OMIM:271980 | Succinic semialdehyde dehydrogenase deficiency | | | | 108 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ALG13 CL E G H | 79868 | 30881 | OMIM:300884 | Epileptic encephalopathy, early infantile, 36 | | | | 96 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ALG14 CL E G H | 199857 | 28287 | OMIM:619031 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF | | | | 12 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | AMT CL E G H | 275 | 473 | OMIM:605899 | Glycine encephalopathy | | | | 56 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ANK3 CL E G H | 288 | 494 | ORPHA:356996 | ANK3-related intellectual disability-sleep disturbance syndrome | | | | 176 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ANK3 CL E G H | 288 | 494 | OMIM:615493 | Mental retardation, autosomal recessive 37 | | | | 176 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | AP1G1 CL E G H | 164 | 555 | OMIM:619467 | USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | AP1G1 CL E G H | 164 | 555 | OMIM:619548 | USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | AP1S2 CL E G H | 8905 | 560 | ORPHA:85335 | Fried syndrome | | | | 13 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | AP1S2 CL E G H | 8905 | 560 | OMIM:304340 | Pettigrew syndrome | | | | 13 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | AP1S2 CL E G H | 8905 | 560 | ORPHA:85329 | X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome | | | | 13 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | | | | 88 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | | | | 219 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | | | | 25 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ARPC4 CL E G H | 10093 | 707 | OMIM:620141 | | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 166 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ATG7 CL E G H | 10533 | 16935 | OMIM:619422 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31 | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:617225 | SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78 | | | | 100 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ATP1A1 CL E G H | 476 | 799 | OMIM:618314 | Hypomagnesemia, seizures, and mental retardation 2 | | | | 4 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 239 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 150 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ATP6V0A1 CL E G H | 535 | 865 | OMIM:619970 | | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | | | | 315 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | | | | 169 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ATXN10 CL E G H | 25814 | 10549 | ORPHA:98761 | Spinocerebellar ataxia type 10 | | | | 9 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | AUH CL E G H | 549 | 890 | OMIM:250950 | 3-methylglutaconic aciduria, type I | | | | 49 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | BCAP31 CL E G H | 10134 | 16695 | ORPHA:369939 | Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | | | | 8 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:568 | Microphthalmia, Lenz type | | | | 101 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 101 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | BCORL1 CL E G H | 63035 | 25657 | OMIM:301029 | Shukla-Vernon syndrome | | | | 17 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | | | | 2 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | | | | 7 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | C12ORF4 CL E G H | 57102 | 1184 | OMIM:618221 | Mental retardation, autosomal recessive 66 | | | | 2 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | 56 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 449 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2382 | Lennox-Gastaut syndrome | | | | 449 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CACNB4 CL E G H | 785 | 1404 | ORPHA:307 | Juvenile myoclonic epilepsy | | | | 146 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CAMK2G CL E G H | 818 | 1463 | OMIM:618522 | Intellectual developmental disorder 59 | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | | | | 34 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CAMTA1 CL E G H | 23261 | 18806 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | | | | 34 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 118 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | | | | 3 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 405 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CEP104 CL E G H | 9731 | 24866 | OMIM:619988 | | | | | 5 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CEP152 CL E G H | 22995 | 29298 | OMIM:614852 | Microcephaly 9, primary, autosomal recessive | | | | 146 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | | | | 342 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CEP85L CL E G H | 387119 | 21638 | OMIM:618873 | LISSENCEPHALY 10; LIS10 | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CHD2 CL E G H | 1106 | 1917 | ORPHA:2382 | Lennox-Gastaut syndrome | | | | 227 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CHD5 CL E G H | 26038 | 16816 | OMIM:619873 | | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CHKA CL E G H | 1119 | 1937 | OMIM:620023 | | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | 42 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CHMP2B CL E G H | 25978 | 24537 | OMIM:600795 | Frontotemporal dementia and/or amytrophic lateral sclerosis 7 | | | | 42 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CILK1 CL E G H | 22858 | 21219 | ORPHA:307 | Juvenile myoclonic epilepsy | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CLCN2 CL E G H | 1181 | 2020 | ORPHA:307 | Juvenile myoclonic epilepsy | | | | 44 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CLCN4 CL E G H | 1183 | 2022 | ORPHA:485350 | CLCN4-related X-linked intellectual disability syndrome | | | | 45 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CLCN4 CL E G H | 1183 | 2022 | OMIM:300114 | Raynaud-Claes syndrome | | | | 45 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CLN5 CL E G H | 1203 | 2076 | ORPHA:228360 | CLN5 disease | | | | 141 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | | | | 6 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CNTNAP2 CL E G H | 26047 | 13830 | ORPHA:163681 | CNTNAP2-related developmental and epileptic encephalopathy | | | | 518 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CNTNAP2 CL E G H | 26047 | 13830 | OMIM:610042 | Pitt-Hopkins-Like syndrome 1 | | | | 518 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CRBN CL E G H | 51185 | 30185 | OMIM:607417 | Mental retardation, autosomal recessive 2 | | | | 19 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | | | | 291 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | | | | 291 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:615075 | Neurodevelopmental disorder with spastic diplegia and visual defects | | | | 88 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:404473 | Severe intellectual disability-progressive spastic diplegia syndrome | | | | 88 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | | | | 38 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CUL4B CL E G H | 8450 | 2555 | ORPHA:85293 | X-linked intellectual disability, Cabezas type | | | | 38 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CUX2 CL E G H | 23316 | 19347 | ORPHA:2382 | Lennox-Gastaut syndrome | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | DCHS1 CL E G H | 8642 | 13681 | ORPHA:314679 | Cerebrofacioarticular syndrome | | | | 27 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | DDX3X CL E G H | 1654 | 2745 | OMIM:300958 | MENTAL RETARDATION, X-LINKED 102; MRX102 | | | | 57 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | DDX3X CL E G H | 1654 | 2745 | ORPHA:457260 | X-linked intellectual disability-hypotonia-movement disorder syndrome | | | | 57 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | DEAF1 CL E G H | 10522 | 14677 | OMIM:617171 | Dyskinesia, seizures, and intellectual developmental disorder | | | | 33 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:468620 | Intellectual disability-epilepsy-extrapyramidal syndrome | | | | 33 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | DEAF1 CL E G H | 10522 | 14677 | OMIM:615828 | Mental retardation, autosomal dominant 24 | | | | 33 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | | | | 33 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | DGCR2 CL E G H | 9993 | 2845 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | DGCR6 CL E G H | 8214 | 2846 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | DGCR8 CL E G H | 54487 | 2847 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 3 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | DNM1 CL E G H | 1759 | 2972 | OMIM:616346 | Epileptic encephalopathy, early infantile, 31 | | | | 72 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | DNM1 CL E G H | 1759 | 2972 | ORPHA:2382 | Lennox-Gastaut syndrome | | | | 72 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | | | | 94 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:404443 | Tatton-Brown-Rahman syndrome | | | | 44 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:608093 | Congenital disorder of glycosylation, type Ij | | | | 38 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | | | | 38 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:293948 | 1p21.3 microdeletion syndrome | | | | 144 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | HP:0040283 - Occasional | | | 144 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | DYNC1I2 CL E G H | 1781 | 2964 | OMIM:618492 | Neurodevelopmental disorder with microcephaly and structural brain anomalies | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | | | | 134 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:401973 | MEND syndrome | | | | 51 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ECM1 CL E G H | 1893 | 3153 | OMIM:247100 | Urbach-Wiethe disease | | | | 14 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616409 | Epileptic encephalopathy, early infantile, 33 | | | | 60 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | | | | 60 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | EFHC1 CL E G H | 114327 | 16406 | ORPHA:307 | Juvenile myoclonic epilepsy | | | | 153 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | | | | 223 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | | | | 8 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ELP2 CL E G H | 55250 | 18248 | OMIM:617270 | Mental retardation, autosomal recessive 58 | | | | 6 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ENTPD1 CL E G H | 953 | 3363 | ORPHA:401810 | Autosomal recessive spastic paraplegia type 64 | | | | 3 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ENTPD1 CL E G H | 953 | 3363 | OMIM:615683 | Spastic paraplegia 64, autosomal recessive | | | | 3 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | | | | 250 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ESS2 CL E G H | 8220 | 16817 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:314679 | Cerebrofacioarticular syndrome | | | | 114 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | FBXL3 CL E G H | 26224 | 13599 | OMIM:606220 | Intellectual developmental disorder with short stature, facial anomalies, and speech defects | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | FBXW11 CL E G H | 23291 | 13607 | OMIM:618914 | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | FGF14 CL E G H | 2259 | 3671 | ORPHA:98764 | Spinocerebellar ataxia type 27 | | | | 47 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:208441 | Bilateral parasagittal parieto-occipital polymicrogyria | | | | 111 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:612691 | Polymicrogyria, bilateral temporooccipital | | | | 111 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | FMO3 CL E G H | 2328 | 3771 | ORPHA:468726 | Severe primary trimethylaminuria | | | | 55 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300624 | Fragile X mental retardation syndrome | | | | 30 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:908 | Fragile X syndrome | | | | 30 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:449291 | Symptomatic form of fragile X syndrome in female carriers | | | | 30 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | FOXP1 CL E G H | 27086 | 3823 | OMIM:613670 | Mental retardation with language impairment and with or without autistic features | | | | 184 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | FRMPD4 CL E G H | 9758 | 29007 | OMIM:300983 | MENTAL RETARDATION, X-LINKED 104; MRX104 | | | | 32 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | FRRS1L CL E G H | 23732 | 1362 | ORPHA:725 | Continuous spikes and waves during sleep | | | | 4 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | FTSJ1 CL E G H | 24140 | 13254 | OMIM:309549 | Mental retardation, X-linked 9 | | | | 13 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GABBR2 CL E G H | 9568 | 4507 | OMIM:617904 | Epileptic encephalopathy, early infantile, 59 | | | | 5 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:307 | Juvenile myoclonic epilepsy | | | | 134 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GABRB3 CL E G H | 2562 | 4083 | ORPHA:2382 | Lennox-Gastaut syndrome | | | | 57 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | | | | 10 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:307 | Juvenile myoclonic epilepsy | | | | 10 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GAMT CL E G H | 2593 | 4136 | OMIM:612736 | Cerebral creatine deficiency syndrome 2 | | | | 91 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GAMT CL E G H | 2593 | 4136 | ORPHA:382 | Guanidinoacetate methyltransferase deficiency | | | | 91 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GATAD2B CL E G H | 57459 | 30778 | ORPHA:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | | | | 33 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GCSH CL E G H | 2653 | 4208 | OMIM:605899 | Glycine encephalopathy | | | | 5 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:494 | Keratoderma hereditarium mutilans | | | | 199 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GLDC CL E G H | 2731 | 4313 | OMIM:605899 | Glycine encephalopathy | | | | 166 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GLS CL E G H | 2744 | 4331 | OMIM:618339 | Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 36 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GNAO1 CL E G H | 2775 | 4389 | OMIM:617493 | Neurodevelopmental disorder with involuntary movements | | | | 36 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GRIA1 CL E G H | 2890 | 4571 | OMIM:619931 | | | | | 3 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GRIA2 CL E G H | 2891 | 4572 | OMIM:618917 | NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GRIA3 CL E G H | 2892 | 4573 | OMIM:300699 | Mental retardation, X-linked 94 | | | | 30 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GRIA3 CL E G H | 2892 | 4573 | ORPHA:364028 | X-linked intellectual disability due to GRIA3 mutations | | | | 30 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GRIK2 CL E G H | 2898 | 4580 | OMIM:619580 | NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS | | | | 32 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:208447 | Bilateral generalized polymicrogyria | | | | 108 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 108 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GRIN1 CL E G H | 2902 | 4584 | OMIM:614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | | | | 108 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GRIN1 CL E G H | 2902 | 4584 | OMIM:617820 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | | | | 108 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:725 | Continuous spikes and waves during sleep | | | | 434 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:98818 | Landau-Kleffner syndrome | | | | 434 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 5 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | GRN CL E G H | 2896 | 4601 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | 126 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | HDAC4 CL E G H | 9759 | 14063 | OMIM:600430 | Chromosome 2q37 deletion syndrome | | | | 33 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | HDC CL E G H | 3067 | 4855 | OMIM:137580 | Gilles de la tourette syndrome | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | HECW2 CL E G H | 57520 | 29853 | OMIM:617268 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | | | | 11 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:615516 | Mental retardation, autosomal recessive 38 | | | | 38 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | | | | 13 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | HNRNPH2 CL E G H | 3188 | 5042 | OMIM:300986 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB | | | | 3 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | HPRT1 CL E G H | 3251 | 5157 | OMIM:300322 | Lesch-Nyhan syndrome | | | | 76 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | HSD17B10 CL E G H | 3028 | 4800 | OMIM:300438 | HSD10 mitochondrial disease | | | | 19 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | | | | 345 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | HTR2A CL E G H | 3356 | 5293 | OMIM:164230 | Obsessive-Compulsive disorder 1 | | | | 4 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | HTRA1 CL E G H | 5654 | 9476 | ORPHA:199354 | Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy | | | | 34 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | | | | 12 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | | | | 23 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | IMPA1 CL E G H | 3612 | 6050 | OMIM:617323 | Mental retardation, autosomal recessive 59 | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | | | | 111 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:75858 | MORM syndrome | | | | 111 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | IQSEC1 CL E G H | 9922 | 29112 | OMIM:618687 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | IQSEC2 CL E G H | 23096 | 29059 | OMIM:309530 | Mental retardation, X-linked 1 | | | | 119 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:397933 | Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome | | | | 119 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | | | | 119 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | JRK CL E G H | 8629 | 6199 | ORPHA:307 | Juvenile myoclonic epilepsy | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:613641 | Charcot-marie-tooth disease, recessive intermediate B | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 145 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | KCNQ3 CL E G H | 3786 | 6297 | ORPHA:307 | Juvenile myoclonic epilepsy | | | | 302 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | KCNT1 CL E G H | 57582 | 18865 | OMIM:615005 | Epilepsy, nocturnal frontal lobe, 5 | | | | 321 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | KDM3B CL E G H | 51780 | 1337 | OMIM:618846 | DIETS-JONGMANS SYNDROME; DIJOS | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | KDM5B CL E G H | 10765 | 18039 | OMIM:618109 | Mental retardation, autosomal recessive 65 | | | | 2 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | | | | 81 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | KDM5C CL E G H | 8242 | 11114 | ORPHA:85279 | Syndromic X-linked intellectual disability due to JARID1C mutation | | | | 81 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | KIF11 CL E G H | 3832 | 6388 | OMIM:152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | | | | 46 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | KIF5C CL E G H | 3800 | 6325 | OMIM:615282 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2 | | | | 18 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | KMT2A CL E G H | 4297 | 7132 | ORPHA:319182 | Wiedemann-Steiner syndrome | | | | 91 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | KMT2A CL E G H | 4297 | 7132 | OMIM:605130 | Wiedemann-Steiner syndrome | | | | 91 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | KMT2C CL E G H | 58508 | 13726 | OMIM:617768 | Kleefstra syndrome 2 | | | | 99 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | KMT2C CL E G H | 58508 | 13726 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | | | | 99 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | KMT2E CL E G H | 55904 | 18541 | OMIM:618512 | O'donnell-Luria-Rodan syndrome | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | KMT5B CL E G H | 51111 | 24283 | OMIM:617788 | Mental retardation, autosomal dominant 51 | | | | 2 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | KNL1 CL E G H | 57082 | 24054 | OMIM:604321 | Microcephaly 4, primary, autosomal recessive | | | | 112 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | KPTN CL E G H | 11133 | 6404 | ORPHA:397612 | Macrocephaly-developmental delay syndrome | | | | 13 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | KPTN CL E G H | 11133 | 6404 | OMIM:615637 | Mental retardation, autosomal recessive 41 | | | | 13 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | LARP7 CL E G H | 51574 | 24912 | ORPHA:319671 | Alazami syndrome | | | | 16 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | LEPR CL E G H | 3953 | 6554 | OMIM:614963 | Leptin receptor deficiency | | | | 46 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | LINGO1 CL E G H | 84894 | 21205 | OMIM:618103 | Mental retardation, autosomal recessive 64 | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | LINS1 CL E G H | 55180 | 30922 | OMIM:614340 | Mental retardation, autosomal recessive 27 | | | | 25 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | LMAN2L CL E G H | 81562 | 19263 | OMIM:616887 | Mental retardation, autosomal recessive 52 | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | | | | 63 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 63 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 63 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 63 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | | | | 63 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MAN1B1 CL E G H | 11253 | 6823 | OMIM:614202 | Rafiq syndrome | | | | 93 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MANBA CL E G H | 4126 | 6831 | OMIM:248510 | MANNOSIDOSIS, BETA A, LYSOSOMAL | | | | 55 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MAOA CL E G H | 4128 | 6833 | OMIM:300615 | Brunner syndrome | | | | 22 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MAPK10 CL E G H | 5602 | 6872 | ORPHA:2382 | Lennox-Gastaut syndrome | | | | 61 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | 140 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MBD5 CL E G H | 55777 | 20444 | ORPHA:228402 | 2q23.1 microdeletion syndrome | | | | 252 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3077 | X-linked intellectual disability-psychosis-macroorchidism syndrome | HP:0040282 - Frequent | | | 950 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:309520 | Lujan-Fryns syndrome | | | | 228 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | | | | 74 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | | | | 43 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | METTL5 CL E G H | 29081 | 25006 | OMIM:618665 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72 | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | | | | 39 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | MYT1L CL E G H | 23040 | 7623 | OMIM:616521 | Mental retardation, autosomal dominant 39 | | | | 13 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:568 | Microphthalmia, Lenz type | | | | 23 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 23 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NAGLU CL E G H | 4669 | 7632 | OMIM:252920 | Mucopolysaccharidosis type IIIB | | | | 72 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NAGS CL E G H | 162417 | 17996 | OMIM:237310 | N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY | | | | 36 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | | | | 48 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NAT8L CL E G H | 339983 | 26742 | OMIM:614063 | N-ACETYLASPARTATE DEFICIENCY | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NAXD CL E G H | 55739 | 25576 | OMIM:618321 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NBEA CL E G H | 26960 | 7648 | OMIM:619157 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE | | | | 3 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NDE1 CL E G H | 54820 | 17619 | OMIM:605013 | MICROHYDRANENCEPHALY | | | | 96 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | | | | 39 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NDP CL E G H | 4693 | 7678 | OMIM:310600 | Norrie disease | | | | 39 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NDST1 CL E G H | 3340 | 7680 | OMIM:616116 | Mental retardation, autosomal recessive 46 | | | | 27 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NFASC CL E G H | 23114 | 29866 | OMIM:618356 | Neurodevelopmental disorder with central and peripheral motor dysfunction | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NFIB CL E G H | 4781 | 7785 | OMIM:618286 | Macrocephaly, acquired, with impaired intellectual development | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:447980 | 19p13.3 microduplication syndrome | | | | 40 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NIPA1 CL E G H | 123606 | 17043 | ORPHA:261183 | 15q11.2 microdeletion syndrome | | | | 117 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NIPA2 CL E G H | 81614 | 17044 | ORPHA:261183 | 15q11.2 microdeletion syndrome | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | | | | 494 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NKAP CL E G H | 79576 | 29873 | OMIM:301039 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | | | | 10 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | | | | 544 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NSDHL CL E G H | 50814 | 13398 | ORPHA:251383 | CK syndrome | | | | 34 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:300831 | Ck syndrome | | | | 34 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NTNG2 CL E G H | 84628 | 14288 | OMIM:618718 | NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | | | | 97 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | | | | 97 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 121 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 121 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 121 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | OCRL CL E G H | 4952 | 8108 | OMIM:309000 | Lowe syndrome | | | | 88 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | | | | 88 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ODC1 CL E G H | 4953 | 8109 | OMIM:619075 | BACHMANN-BUPP SYNDROME; BABS | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ODC1 CL E G H | 4953 | 8109 | ORPHA:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | OPHN1 CL E G H | 4983 | 8148 | OMIM:300486 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | | | | 55 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PACS1 CL E G H | 55690 | 30032 | OMIM:615009 | Schuurs-Hoeijmakers syndrome | | | | 24 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PAH CL E G H | 5053 | 8582 | ORPHA:79254 | Classic phenylketonuria | | | | 641 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PAK3 CL E G H | 5063 | 8592 | OMIM:300558 | MENTAL RETARDATION, X-LINKED 30; MRX30 | | | | 27 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PANK2 CL E G H | 80025 | 15894 | ORPHA:216873 | Atypical pantothenate kinase-associated neurodegeneration | | | | 55 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PCDH19 CL E G H | 57526 | 14270 | OMIM:300088 | Epileptic encephalopathy, early infantile, 9 | | | | 225 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:101039 | Female restricted epilepsy with intellectual disability | | | | 225 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PDE2A CL E G H | 5138 | 8777 | OMIM:619150 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PHIP CL E G H | 55023 | 15673 | OMIM:617991 | Developmental delay, intellectual disability, obesity, and dysmorphic features | | | | 11 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PIDD1 CL E G H | 55367 | 16491 | OMIM:619827 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75 | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PIGH CL E G H | 5283 | 8964 | OMIM:618010 | Glycosylphosphatidylinositol biosynthesis defect 17 | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | | | | 36 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 2 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 3 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 244 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | | | | 35 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | POU4F1 CL E G H | 5457 | 9218 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PPP2R5D CL E G H | 5528 | 9312 | ORPHA:457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | | | | 10 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | | | | 148 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:137440 | Gerstmann-Straussler disease | | | | 69 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:603218 | Huntington disease-like 1 | | | | 69 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PRODH CL E G H | 5625 | 9453 | OMIM:239500 | Hyperprolinemia, type I | | | | 13 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:98811 | Paroxysmal exertion-induced dyskinesia | | | | 94 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | 241 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PSMB1 CL E G H | 5689 | 9537 | OMIM:620038 | | | | | 2 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | | | | 4 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PTCHD1 CL E G H | 139411 | 26392 | OMIM:300830 | Autism, susceptibility to, X-linked 4 | | | | 34 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PUS3 CL E G H | 83480 | 25461 | ORPHA:488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PUS7 CL E G H | 54517 | 26033 | OMIM:618342 | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:481152 | PYCR2-related microcephaly-progressive leukoencephalopathy | | | | 11 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | | | | 150 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | RBBP8 CL E G H | 5932 | 9891 | OMIM:251255 | Jawad syndrome | | | | 68 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | RBL2 CL E G H | 5934 | 9894 | OMIM:619690 | BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | | | | 16 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | RERE CL E G H | 473 | 9965 | ORPHA:494344 | RERE-related neurodevelopmental syndrome | | | | 16 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | | | | 7 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | RORB CL E G H | 6096 | 10259 | OMIM:618357 | Epilepsy, idiopathic generalized, susceptibility to, 15 | | | | 3 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:435938 | X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome | | | | 10 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | | | | 65 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | | | | 113 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | RUSC2 CL E G H | 9853 | 23625 | OMIM:617773 | Mental retardation, autosomal recessive 61 | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SARS1 CL E G H | 6301 | 10537 | OMIM:617709 | Neurodevelopmental disorder with microcephaly, ataxia, and seizures | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SASS6 CL E G H | 163786 | 25403 | OMIM:616402 | Microcephaly 14, primary, autosomal recessive | | | | 4 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251019 | 2q32q33 microdeletion syndrome | | | | 34 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SATB2 CL E G H | 23314 | 21637 | OMIM:612313 | Glass syndrome | | | | 34 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | | | | 34 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:2382 | Lennox-Gastaut syndrome | | | | 1053 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 126 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 427 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:616078 | Mental retardation, autosomal dominant 29 | | | | 143 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SETD1A CL E G H | 9739 | 29010 | OMIM:619056 | NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID | | | | 6 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SETD2 CL E G H | 29072 | 18420 | OMIM:616831 | Luscan-Lumish syndrome | | | | 60 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | | | | 60 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:329249 | Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | | | | 53 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SHQ1 CL E G H | 55164 | 25543 | OMIM:619922 | | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 11 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | | | | 40 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | | | | 150 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 63 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SLC1A4 CL E G H | 6509 | 10942 | ORPHA:447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | | | | 4 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247585 | Citrullinemia type II | | | | 82 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 166 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:98811 | Paroxysmal exertion-induced dyskinesia | | | | 255 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SLC52A2 CL E G H | 79581 | 30224 | OMIM:614707 | Brown-Vialetto-Van laere syndrome 2 | | | | 47 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SLC6A17 CL E G H | 388662 | 31399 | OMIM:616269 | Mental retardation, autosomal recessive 48 | | | | 12 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SLC6A17 CL E G H | 388662 | 31399 | ORPHA:457212 | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | | | | 12 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SLC6A4 CL E G H | 6532 | 11050 | OMIM:164230 | Obsessive-Compulsive disorder 1 | | | | 52 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SLC6A8 CL E G H | 6535 | 11055 | OMIM:300352 | Creatine deficiency syndrome, X-linked | | | | 122 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SLC6A8 CL E G H | 6535 | 11055 | ORPHA:52503 | X-linked creatine transporter deficiency | | | | 122 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SLITRK1 CL E G H | 114798 | 20297 | OMIM:137580 | Gilles de la tourette syndrome | | | | 58 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SLITRK1 CL E G H | 114798 | 20297 | OMIM:613229 | TRICHOTILLOMANIA | | | | 58 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | | | | 617 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | | | | 87 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SMARCC2 CL E G H | 6601 | 11105 | OMIM:618362 | Coffin-Siris syndrome 8 | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | | | | 47 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SMG8 CL E G H | 55181 | 25551 | OMIM:619268 | ALZAHRANI-KUWAHARA SYNDROME; ALKUS | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 37 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 37 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 37 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | | | | 37 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | | | | 14 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SOX5 CL E G H | 6660 | 11201 | ORPHA:313892 | Developmental and speech delay due to SOX5 deficiency | | | | 11 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SPAST CL E G H | 6683 | 11233 | OMIM:182601 | Spastic paraplegia 4, autosomal dominant | | | | 208 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SPATA5 CL E G H | 166378 | 18119 | ORPHA:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | | | | 19 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | | | | 4 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618828 | NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1 | | | | 16 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SPR CL E G H | 6697 | 11257 | OMIM:612716 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | | | | 28 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | 62 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | | | | 138 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | STEEP1 CL E G H | 63932 | 26239 | OMIM:301013 | MENTAL RETARDATION, X-LINKED 107; MRX107 | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | STT3A CL E G H | 3703 | 6172 | OMIM:619714 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD | | | | 21 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SUCLG1 CL E G H | 8802 | 11449 | ORPHA:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | | | | 60 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SYN1 CL E G H | 6853 | 11494 | OMIM:300491 | Epilepsy, X-linked, with variable learning disabilities and behavior disorders | | | | 58 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SYN1 CL E G H | 6853 | 11494 | ORPHA:85294 | X-linked epilepsy-learning disabilities-behavior disorders syndrome | | | | 58 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SYT1 CL E G H | 6857 | 11509 | OMIM:618218 | Baker-Gordon syndrome | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TAOK1 CL E G H | 57551 | 29259 | OMIM:619575 | DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | | | | 7 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:192430 | Velocardiofacial syndrome | | | | 32 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TCF20 CL E G H | 6942 | 11631 | OMIM:618430 | Developmental delay with variable intellectual impairment and behavioral abnormalities | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | THOC2 CL E G H | 57187 | 19073 | ORPHA:457240 | X-linked intellectual disability-short stature-overweight syndrome | | | | 5 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TIMM50 CL E G H | 92609 | 23656 | ORPHA:505216 | 3-methylglutaconic aciduria type 9 | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TIMM50 CL E G H | 92609 | 23656 | OMIM:617698 | 3-methylglutaconic aciduria, type IX | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TKT CL E G H | 7086 | 11834 | OMIM:617044 | Short stature, developmental delay, and congenital heart defects | | | | 4 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TKT CL E G H | 7086 | 11834 | ORPHA:488618 | Transketolase deficiency | | | | 4 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TMEM222 CL E G H | 84065 | 25363 | OMIM:619470 | NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TMEM231 CL E G H | 79583 | 37234 | OMIM:614970 | Joubert syndrome 20 | | | | 33 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | | | | 9 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TRAPPC10 CL E G H | 7109 | 11868 | OMIM:620027 | | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | 31 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:618825 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63 | | | | 8 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | | | | 8 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | | | | 8 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TRIP12 CL E G H | 9320 | 12306 | OMIM:617752 | Mental retardation, autosomal dominant 49 | | | | 2 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | | | | 1090 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | | | | 2738 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TTC19 CL E G H | 54902 | 26006 | OMIM:615157 | Mitochondrial complex III deficiency, nuclear type 2 | | | | 88 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TTC5 CL E G H | 91875 | 19274 | OMIM:619244 | NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TTI2 CL E G H | 80185 | 26262 | OMIM:615541 | Mental retardation, autosomal recessive 39 | | | | 11 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TTI2 CL E G H | 80185 | 26262 | ORPHA:391307 | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | | | | 11 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TUBG1 CL E G H | 7283 | 12417 | ORPHA:261183 | 15q11.2 microdeletion syndrome | | | | 14 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | TYROBP CL E G H | 7305 | 12449 | OMIM:221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | | | | 22 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | | | | 7 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | UBE4A CL E G H | 9354 | 12499 | OMIM:619639 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | UBTF CL E G H | 7343 | 12511 | ORPHA:500180 | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | | | | 1 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | | | | 23 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | UQCC2 CL E G H | 84300 | 21237 | OMIM:615824 | Mitochondrial complex III deficiency, nuclear type 7 | | | | 7 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | UROC1 CL E G H | 131669 | 26444 | OMIM:276880 | Urocanase deficiency | | | | 8 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | | | | 2 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | USP7 CL E G H | 7874 | 12630 | OMIM:616863 | Chromosome 16p13.2 deletion syndrome | | | | 2 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | USP9X CL E G H | 8239 | 12632 | OMIM:300919 | MENTAL RETARDATION, X-LINKED 99; MRX99 | | | | 27 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | VAMP2 CL E G H | 6844 | 12643 | OMIM:618760 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | 63 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | | | | 130 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | | | | 130 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | VPS16 CL E G H | 64601 | 14584 | OMIM:619291 | DYSTONIA 30; DYT30 | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | | | | 20 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | | | | 20 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | | | | 20 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | WARS2 CL E G H | 10352 | 12730 | OMIM:617710 | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | | | | 2 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | WARS2 CL E G H | 10352 | 12730 | OMIM:619738 | PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3 | | | | 2 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | | | | 2 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | WASF1 CL E G H | 8936 | 12732 | OMIM:618707 | NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | WASHC4 CL E G H | 23325 | 29174 | OMIM:615817 | Mental retardation, autosomal recessive 43 | | | | 25 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | WDR45 CL E G H | 11152 | 28912 | ORPHA:329284 | Beta-propeller protein-associated neurodegeneration | | | | 51 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | WDR45 CL E G H | 11152 | 28912 | OMIM:300894 | Neurodegeneration with brain iron accumulation 5 | | | | 51 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | | | | 224 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ZMIZ1 CL E G H | 57178 | 16493 | OMIM:618659 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA | | | | | | |
HP:0006919 | HP:0006919 | Abnormal aggressive, impulsive or violent behavior | 0 | ZMYND11 CL E G H | 10771 | 16966 | OMIM:616083 | Mental retardation, autosomal dominant 30 | | | | 24 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:457 | Harlequin ichthyosis | HP:0040283 - Occasional | | | 130 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ABCA2 CL E G H | 20 | 32 | OMIM:618808 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ADAT3 CL E G H | 113179 | 25151 | OMIM:615286 | Mental retardation, autosomal recessive 36 | HP:0040284 - Very rare | | | 9 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ADSL CL E G H | 158 | 291 | OMIM:103050 | Adenylosuccinase deficiency | . | | | 118 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | ADSL CL E G H | 158 | 291 | OMIM:103050 | Adenylosuccinase deficiency | | | | 118 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | AFF2 CL E G H | 2334 | 3776 | ORPHA:100973 | FRAXE intellectual disability | HP:0040282 - Frequent | | | 59 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | AFF2 CL E G H | 2334 | 3776 | OMIM:309548 | Mental retardation, X-linked, associated with fragile site fraxe | | | | 59 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | AGO2 CL E G H | 27161 | 3263 | OMIM:619149 | LESSEL-KREIENKAMP SYNDROME; LESKRES | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ALDH4A1 CL E G H | 8659 | 406 | ORPHA:79101 | Hyperprolinemia type 2 | HP:0040283 - Occasional | | | 74 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | ALDH5A1 CL E G H | 7915 | 408 | OMIM:271980 | Succinic semialdehyde dehydrogenase deficiency | . | | | 108 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ALDH5A1 CL E G H | 7915 | 408 | OMIM:271980 | Succinic semialdehyde dehydrogenase deficiency | . | | | 108 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | ALG13 CL E G H | 79868 | 30881 | OMIM:300884 | Epileptic encephalopathy, early infantile, 36 | | | | 96 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | ALG14 CL E G H | 199857 | 28287 | OMIM:619031 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF | | | | 12 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ALG14 CL E G H | 199857 | 28287 | OMIM:619031 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF | | | | 12 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | AMT CL E G H | 275 | 473 | OMIM:605899 | Glycine encephalopathy | . | | | 56 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ANK3 CL E G H | 288 | 494 | ORPHA:356996 | ANK3-related intellectual disability-sleep disturbance syndrome | HP:0040282 - Frequent | | | 176 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ANK3 CL E G H | 288 | 494 | OMIM:615493 | Mental retardation, autosomal recessive 37 | . | | | 176 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | AP1G1 CL E G H | 164 | 555 | OMIM:619467 | USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | AP1G1 CL E G H | 164 | 555 | OMIM:619467 | USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | AP1G1 CL E G H | 164 | 555 | OMIM:619548 | USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | AP1S2 CL E G H | 8905 | 560 | ORPHA:85335 | Fried syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | AP1S2 CL E G H | 8905 | 560 | OMIM:304340 | Pettigrew syndrome | . | | | 13 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | AP1S2 CL E G H | 8905 | 560 | ORPHA:85329 | X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 219 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 25 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ARPC4 CL E G H | 10093 | 707 | OMIM:620141 | | | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 166 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | ATG7 CL E G H | 10533 | 16935 | OMIM:619422 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31 | | | | 1 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | . | | | 100 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:617225 | SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78 | | | | 100 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | ATP1A1 CL E G H | 476 | 799 | OMIM:618314 | Hypomagnesemia, seizures, and mental retardation 2 | | | | 4 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 239 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 150 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | ATP6V0A1 CL E G H | 535 | 865 | OMIM:619970 | | | | | 1 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | HP:0040281 - Very frequent | | | 315 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ATXN10 CL E G H | 25814 | 10549 | ORPHA:98761 | Spinocerebellar ataxia type 10 | HP:0040283 - Occasional | | | 9 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | AUH CL E G H | 549 | 890 | OMIM:250950 | 3-methylglutaconic aciduria, type I | | | | 49 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | BCAP31 CL E G H | 10134 | 16695 | ORPHA:369939 | Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | BCOR CL E G H | 54880 | 20893 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040283 - Occasional | | | 101 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 101 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 101 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | BCORL1 CL E G H | 63035 | 25657 | OMIM:301029 | Shukla-Vernon syndrome | | | | 17 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | | | | 7 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | C12ORF4 CL E G H | 57102 | 1184 | OMIM:618221 | Mental retardation, autosomal recessive 66 | | | | 2 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 56 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 449 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2382 | Lennox-Gastaut syndrome | HP:0040282 - Frequent | | | 449 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CACNB4 CL E G H | 785 | 1404 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040284 - Very rare | | | 146 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | CAMK2G CL E G H | 818 | 1463 | OMIM:618522 | Intellectual developmental disorder 59 | | | | 1 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | . | | | 34 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CAMTA1 CL E G H | 23261 | 18806 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | HP:0040282 - Frequent | | | 34 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 118 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 405 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | CEP104 CL E G H | 9731 | 24866 | OMIM:619988 | | | | | 5 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CEP152 CL E G H | 22995 | 29298 | OMIM:614852 | Microcephaly 9, primary, autosomal recessive | . | | | 146 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | CEP152 CL E G H | 22995 | 29298 | OMIM:614852 | Microcephaly 9, primary, autosomal recessive | | | | 146 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | | | | 342 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CEP85L CL E G H | 387119 | 21638 | OMIM:618873 | LISSENCEPHALY 10; LIS10 | | | | 1 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CHD2 CL E G H | 1106 | 1917 | ORPHA:2382 | Lennox-Gastaut syndrome | HP:0040282 - Frequent | | | 227 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CHD5 CL E G H | 26038 | 16816 | OMIM:619873 | | | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | CHD5 CL E G H | 26038 | 16816 | OMIM:619873 | | | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CHKA CL E G H | 1119 | 1937 | OMIM:620023 | | | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | CHKA CL E G H | 1119 | 1937 | OMIM:620023 | | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 42 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CHMP2B CL E G H | 25978 | 24537 | OMIM:600795 | Frontotemporal dementia and/or amytrophic lateral sclerosis 7 | . | | | 42 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CILK1 CL E G H | 22858 | 21219 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040284 - Very rare | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CLCN2 CL E G H | 1181 | 2020 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040284 - Very rare | | | 44 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CLCN4 CL E G H | 1183 | 2022 | ORPHA:485350 | CLCN4-related X-linked intellectual disability syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | CLCN4 CL E G H | 1183 | 2022 | ORPHA:485350 | CLCN4-related X-linked intellectual disability syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CLCN4 CL E G H | 1183 | 2022 | OMIM:300114 | Raynaud-Claes syndrome | . | | | 45 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CLN5 CL E G H | 1203 | 2076 | ORPHA:228360 | CLN5 disease | HP:0040282 - Frequent | | | 141 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | | | | 6 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CNTNAP2 CL E G H | 26047 | 13830 | ORPHA:163681 | CNTNAP2-related developmental and epileptic encephalopathy | | | | 518 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | CNTNAP2 CL E G H | 26047 | 13830 | ORPHA:163681 | CNTNAP2-related developmental and epileptic encephalopathy | | | | 518 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CNTNAP2 CL E G H | 26047 | 13830 | OMIM:610042 | Pitt-Hopkins-Like syndrome 1 | . | | | 518 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | CRBN CL E G H | 51185 | 30185 | OMIM:607417 | Mental retardation, autosomal recessive 2 | | | | 19 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | HP:0040283 - Occasional | | | 291 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | HP:0040283 - Occasional | | | 291 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040283 - Occasional | | | 291 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040283 - Occasional | | | 291 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:615075 | Neurodevelopmental disorder with spastic diplegia and visual defects | | | | 88 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:615075 | Neurodevelopmental disorder with spastic diplegia and visual defects | | | | 88 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:404473 | Severe intellectual disability-progressive spastic diplegia syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:404473 | Severe intellectual disability-progressive spastic diplegia syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | | | | 38 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CUL4B CL E G H | 8450 | 2555 | ORPHA:85293 | X-linked intellectual disability, Cabezas type | HP:0040282 - Frequent | | | 38 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CUX2 CL E G H | 23316 | 19347 | ORPHA:2382 | Lennox-Gastaut syndrome | HP:0040282 - Frequent | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | HP:0040283 - Occasional | | | 114 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | DCHS1 CL E G H | 8642 | 13681 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | DDX3X CL E G H | 1654 | 2745 | OMIM:300958 | MENTAL RETARDATION, X-LINKED 102; MRX102 | | | | 57 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | DDX3X CL E G H | 1654 | 2745 | ORPHA:457260 | X-linked intellectual disability-hypotonia-movement disorder syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | DEAF1 CL E G H | 10522 | 14677 | OMIM:617171 | Dyskinesia, seizures, and intellectual developmental disorder | . | | | 33 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:468620 | Intellectual disability-epilepsy-extrapyramidal syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | DEAF1 CL E G H | 10522 | 14677 | OMIM:615828 | Mental retardation, autosomal dominant 24 | . | | | 33 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | DGCR2 CL E G H | 9993 | 2845 | OMIM:192430 | Velocardiofacial syndrome | . | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | DGCR6 CL E G H | 8214 | 2846 | OMIM:192430 | Velocardiofacial syndrome | . | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | DGCR8 CL E G H | 54487 | 2847 | OMIM:192430 | Velocardiofacial syndrome | . | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040282 - Frequent | | | 159 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | DNM1 CL E G H | 1759 | 2972 | OMIM:616346 | Epileptic encephalopathy, early infantile, 31 | HP:0040283 - Occasional | | | 72 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | DNM1 CL E G H | 1759 | 2972 | ORPHA:2382 | Lennox-Gastaut syndrome | HP:0040282 - Frequent | | | 72 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | | | | 94 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:404443 | Tatton-Brown-Rahman syndrome | HP:0040284 - Very rare | | | 44 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:608093 | Congenital disorder of glycosylation, type Ij | HP:0040283 - Occasional | | | 38 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | | | | 38 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040283 - Occasional | | | 38 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | DPYD CL E G H | 1806 | 3012 | ORPHA:293948 | 1p21.3 microdeletion syndrome | HP:0040283 - Occasional | | | 144 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | DPYD CL E G H | 1806 | 3012 | ORPHA:293948 | 1p21.3 microdeletion syndrome | HP:0040283 - Occasional | | | 144 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | DYNC1I2 CL E G H | 1781 | 2964 | OMIM:618492 | Neurodevelopmental disorder with microcephaly and structural brain anomalies | | | | 1 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040283 - Occasional | | | 134 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | EBP CL E G H | 10682 | 3133 | ORPHA:401973 | MEND syndrome | HP:0040283 - Occasional | | | 51 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ECM1 CL E G H | 1893 | 3153 | OMIM:247100 | Urbach-Wiethe disease | . | | | 14 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616409 | Epileptic encephalopathy, early infantile, 33 | . | | | 60 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | | | | 60 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | . | | | 60 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | EFHC1 CL E G H | 114327 | 16406 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040284 - Very rare | | | 153 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | HP:0040282 - Frequent | | | 223 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040283 - Occasional | | | 223 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | . | | | 8 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | ELP2 CL E G H | 55250 | 18248 | OMIM:617270 | Mental retardation, autosomal recessive 58 | | | | 6 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ELP2 CL E G H | 55250 | 18248 | OMIM:617270 | Mental retardation, autosomal recessive 58 | . | | | 6 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ENTPD1 CL E G H | 953 | 3363 | ORPHA:401810 | Autosomal recessive spastic paraplegia type 64 | HP:0040282 - Frequent | | | 3 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ENTPD1 CL E G H | 953 | 3363 | OMIM:615683 | Spastic paraplegia 64, autosomal recessive | . | | | 3 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040283 - Occasional | | | 250 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040283 - Occasional | | | 250 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ESS2 CL E G H | 8220 | 16817 | OMIM:192430 | Velocardiofacial syndrome | . | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | FAT4 CL E G H | 79633 | 23109 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | FBXL3 CL E G H | 26224 | 13599 | OMIM:606220 | Intellectual developmental disorder with short stature, facial anomalies, and speech defects | | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | FBXW11 CL E G H | 23291 | 13607 | OMIM:618914 | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | FBXW11 CL E G H | 23291 | 13607 | OMIM:618914 | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | FGF14 CL E G H | 2259 | 3671 | ORPHA:98764 | Spinocerebellar ataxia type 27 | HP:0040282 - Frequent | | | 47 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:208441 | Bilateral parasagittal parieto-occipital polymicrogyria | HP:0040283 - Occasional | | | 111 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:612691 | Polymicrogyria, bilateral temporooccipital | . | | | 111 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | FMO3 CL E G H | 2328 | 3771 | ORPHA:468726 | Severe primary trimethylaminuria | HP:0040283 - Occasional | | | 55 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | FMR1 CL E G H | 2332 | 3775 | OMIM:300624 | Fragile X mental retardation syndrome | | | | 30 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | FMR1 CL E G H | 2332 | 3775 | ORPHA:908 | Fragile X syndrome | HP:0040283 - Occasional | | | 30 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | FMR1 CL E G H | 2332 | 3775 | ORPHA:449291 | Symptomatic form of fragile X syndrome in female carriers | HP:0040284 - Very rare | | | 30 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | FMR1 CL E G H | 2332 | 3775 | ORPHA:449291 | Symptomatic form of fragile X syndrome in female carriers | HP:0040284 - Very rare | | | 30 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | FOXP1 CL E G H | 27086 | 3823 | OMIM:613670 | Mental retardation with language impairment and with or without autistic features | | | | 184 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | FOXP1 CL E G H | 27086 | 3823 | OMIM:613670 | Mental retardation with language impairment and with or without autistic features | | | | 184 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | FRMPD4 CL E G H | 9758 | 29007 | OMIM:300983 | MENTAL RETARDATION, X-LINKED 104; MRX104 | | | | 32 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | FRRS1L CL E G H | 23732 | 1362 | ORPHA:725 | Continuous spikes and waves during sleep | HP:0040283 - Occasional | | | 4 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | FTSJ1 CL E G H | 24140 | 13254 | OMIM:309549 | Mental retardation, X-linked 9 | | | | 13 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | GABBR2 CL E G H | 9568 | 4507 | OMIM:617904 | Epileptic encephalopathy, early infantile, 59 | . | | | 5 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040284 - Very rare | | | 134 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | GABRB3 CL E G H | 2562 | 4083 | ORPHA:2382 | Lennox-Gastaut syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | GABRD CL E G H | 2563 | 4084 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040284 - Very rare | | | 10 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | GAMT CL E G H | 2593 | 4136 | OMIM:612736 | Cerebral creatine deficiency syndrome 2 | | | | 91 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | GAMT CL E G H | 2593 | 4136 | ORPHA:382 | Guanidinoacetate methyltransferase deficiency | HP:0040283 - Occasional | | | 91 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | GAMT CL E G H | 2593 | 4136 | ORPHA:382 | Guanidinoacetate methyltransferase deficiency | HP:0040283 - Occasional | | | 91 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | GATAD2B CL E G H | 57459 | 30778 | ORPHA:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | | | | 33 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | GCSH CL E G H | 2653 | 4208 | OMIM:605899 | Glycine encephalopathy | . | | | 5 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:494 | Keratoderma hereditarium mutilans | HP:0040283 - Occasional | | | 199 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | GLDC CL E G H | 2731 | 4313 | OMIM:605899 | Glycine encephalopathy | . | | | 166 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | GLS CL E G H | 2744 | 4331 | OMIM:618339 | Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | . | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 36 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | GNAO1 CL E G H | 2775 | 4389 | OMIM:617493 | Neurodevelopmental disorder with involuntary movements | . | | | 36 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | GRIA1 CL E G H | 2890 | 4571 | OMIM:619931 | | | | | 3 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | GRIA2 CL E G H | 2891 | 4572 | OMIM:618917 | NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB | | | | 1 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | GRIA3 CL E G H | 2892 | 4573 | OMIM:300699 | Mental retardation, X-linked 94 | . | | | 30 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | GRIA3 CL E G H | 2892 | 4573 | OMIM:300699 | Mental retardation, X-linked 94 | | | | 30 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | GRIA3 CL E G H | 2892 | 4573 | ORPHA:364028 | X-linked intellectual disability due to GRIA3 mutations | HP:0040283 - Occasional | | | 30 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | GRIA3 CL E G H | 2892 | 4573 | ORPHA:364028 | X-linked intellectual disability due to GRIA3 mutations | | | | 30 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | GRIK2 CL E G H | 2898 | 4580 | OMIM:619580 | NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS | | | | 32 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:208447 | Bilateral generalized polymicrogyria | HP:0040283 - Occasional | | | 108 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | GRIN1 CL E G H | 2902 | 4584 | OMIM:614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | . | | | 108 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | GRIN1 CL E G H | 2902 | 4584 | OMIM:617820 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | . | | | 108 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:725 | Continuous spikes and waves during sleep | HP:0040283 - Occasional | | | 434 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:98818 | Landau-Kleffner syndrome | HP:0040283 - Occasional | | | 434 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 5 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | GRN CL E G H | 2896 | 4601 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 126 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | HDAC4 CL E G H | 9759 | 14063 | OMIM:600430 | Chromosome 2q37 deletion syndrome | . | | | 33 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | HDAC4 CL E G H | 9759 | 14063 | OMIM:600430 | Chromosome 2q37 deletion syndrome | . | | | 33 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | HDC CL E G H | 3067 | 4855 | OMIM:137580 | Gilles de la tourette syndrome | | | | 1 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | HDC CL E G H | 3067 | 4855 | OMIM:137580 | Gilles de la tourette syndrome | . | | | 1 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | HECW2 CL E G H | 57520 | 29853 | OMIM:617268 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | | | | 11 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | HERC2 CL E G H | 8924 | 4868 | OMIM:615516 | Mental retardation, autosomal recessive 38 | | | | 38 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | HERC2 CL E G H | 8924 | 4868 | OMIM:615516 | Mental retardation, autosomal recessive 38 | | | | 38 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | | | | 13 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | HNRNPH2 CL E G H | 3188 | 5042 | OMIM:300986 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB | | | | 3 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | HNRNPH2 CL E G H | 3188 | 5042 | OMIM:300986 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB | | | | 3 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | HPRT1 CL E G H | 3251 | 5157 | OMIM:300322 | Lesch-Nyhan syndrome | . | | | 76 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | HSD17B10 CL E G H | 3028 | 4800 | OMIM:300438 | HSD10 mitochondrial disease | . | | | 19 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 345 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | HTR2A CL E G H | 3356 | 5293 | OMIM:164230 | Obsessive-Compulsive disorder 1 | | | | 4 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | HTRA1 CL E G H | 5654 | 9476 | ORPHA:199354 | Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy | | | | 34 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | HP:0040282 - Frequent | | | 12 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 23 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 23 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | IMPA1 CL E G H | 3612 | 6050 | OMIM:617323 | Mental retardation, autosomal recessive 59 | . | | | 1 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | . | | | 111 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | | | | 111 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:75858 | MORM syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | IQSEC1 CL E G H | 9922 | 29112 | OMIM:618687 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | IQSEC2 CL E G H | 23096 | 29059 | OMIM:309530 | Mental retardation, X-linked 1 | | | | 119 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:397933 | Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome | HP:0040283 - Occasional | | | 119 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 119 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | JRK CL E G H | 8629 | 6199 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040284 - Very rare | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | KARS1 CL E G H | 3735 | 6215 | OMIM:613641 | Charcot-marie-tooth disease, recessive intermediate B | | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 145 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | KCNQ3 CL E G H | 3786 | 6297 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040284 - Very rare | | | 302 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | KCNT1 CL E G H | 57582 | 18865 | OMIM:615005 | Epilepsy, nocturnal frontal lobe, 5 | HP:0040283 - Occasional | | | 321 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | KDM3B CL E G H | 51780 | 1337 | OMIM:618846 | DIETS-JONGMANS SYNDROME; DIJOS | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | KDM5B CL E G H | 10765 | 18039 | OMIM:618109 | Mental retardation, autosomal recessive 65 | | | | 2 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | | | | 81 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | KDM5C CL E G H | 8242 | 11114 | ORPHA:85279 | Syndromic X-linked intellectual disability due to JARID1C mutation | HP:0040282 - Frequent | | | 81 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | KIF11 CL E G H | 3832 | 6388 | OMIM:152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | HP:0040283 - Occasional | | | 46 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | KIF5C CL E G H | 3800 | 6325 | OMIM:615282 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2 | | | | 18 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | KMT2A CL E G H | 4297 | 7132 | ORPHA:319182 | Wiedemann-Steiner syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | KMT2A CL E G H | 4297 | 7132 | OMIM:605130 | Wiedemann-Steiner syndrome | . | | | 91 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | KMT2C CL E G H | 58508 | 13726 | OMIM:617768 | Kleefstra syndrome 2 | | | | 99 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | KMT2C CL E G H | 58508 | 13726 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040283 - Occasional | | | 99 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | KMT2E CL E G H | 55904 | 18541 | OMIM:618512 | O'donnell-Luria-Rodan syndrome | . | | | 1 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | KMT2E CL E G H | 55904 | 18541 | OMIM:618512 | O'donnell-Luria-Rodan syndrome | . | | | 1 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | KMT5B CL E G H | 51111 | 24283 | OMIM:617788 | Mental retardation, autosomal dominant 51 | | | | 2 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | KNL1 CL E G H | 57082 | 24054 | OMIM:604321 | Microcephaly 4, primary, autosomal recessive | . | | | 112 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | KPTN CL E G H | 11133 | 6404 | ORPHA:397612 | Macrocephaly-developmental delay syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | KPTN CL E G H | 11133 | 6404 | OMIM:615637 | Mental retardation, autosomal recessive 41 | | | | 13 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | LARP7 CL E G H | 51574 | 24912 | ORPHA:319671 | Alazami syndrome | | | | 16 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | LEPR CL E G H | 3953 | 6554 | OMIM:614963 | Leptin receptor deficiency | HP:0040280 - Obligate | HP:0003593 - Infantile onset | | 46 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | LINGO1 CL E G H | 84894 | 21205 | OMIM:618103 | Mental retardation, autosomal recessive 64 | . | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | LINS1 CL E G H | 55180 | 30922 | OMIM:614340 | Mental retardation, autosomal recessive 27 | HP:0040283 - Occasional | | | 25 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | LMAN2L CL E G H | 81562 | 19263 | OMIM:616887 | Mental retardation, autosomal recessive 52 | | | | 1 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | . | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | | | | 63 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 63 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 63 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 63 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | | | | 63 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | MAN1B1 CL E G H | 11253 | 6823 | OMIM:614202 | Rafiq syndrome | | | | 93 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | MANBA CL E G H | 4126 | 6831 | OMIM:248510 | MANNOSIDOSIS, BETA A, LYSOSOMAL | . | | | 55 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | MAOA CL E G H | 4128 | 6833 | OMIM:300615 | Brunner syndrome | | | | 22 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | MAOA CL E G H | 4128 | 6833 | OMIM:300615 | Brunner syndrome | | | | 22 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | MAPK10 CL E G H | 5602 | 6872 | ORPHA:2382 | Lennox-Gastaut syndrome | HP:0040282 - Frequent | | | 61 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 140 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | MBD5 CL E G H | 55777 | 20444 | ORPHA:228402 | 2q23.1 microdeletion syndrome | HP:0040282 - Frequent | | | 252 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | . | | | 252 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | . | | | 252 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3077 | X-linked intellectual disability-psychosis-macroorchidism syndrome | HP:0040281 - Very frequent | | | 950 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:309520 | Lujan-Fryns syndrome | . | | | 228 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | HP:0040283 - Occasional | | | 74 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | METTL5 CL E G H | 29081 | 25006 | OMIM:618665 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72 | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | . | | | 39 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | | | | 39 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | MYT1L CL E G H | 23040 | 7623 | OMIM:616521 | Mental retardation, autosomal dominant 39 | | | | 13 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | MYT1L CL E G H | 23040 | 7623 | OMIM:616521 | Mental retardation, autosomal dominant 39 | . | | | 13 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | NAA10 CL E G H | 8260 | 18704 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040283 - Occasional | | | 23 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 23 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 23 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | NAGLU CL E G H | 4669 | 7632 | OMIM:252920 | Mucopolysaccharidosis type IIIB | . | | | 72 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | NAGS CL E G H | 162417 | 17996 | OMIM:237310 | N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY | . | | | 36 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040283 - Occasional | | | 48 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | NAT8L CL E G H | 339983 | 26742 | OMIM:614063 | N-ACETYLASPARTATE DEFICIENCY | | | | 1 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | NAXD CL E G H | 55739 | 25576 | OMIM:618321 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | NBEA CL E G H | 26960 | 7648 | OMIM:619157 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE | | | | 3 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | NDE1 CL E G H | 54820 | 17619 | OMIM:605013 | MICROHYDRANENCEPHALY | | | | 96 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | NDP CL E G H | 4693 | 7678 | OMIM:310600 | Norrie disease | . | | | 39 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | HP:0040283 - Occasional | | | 39 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | NDST1 CL E G H | 3340 | 7680 | OMIM:616116 | Mental retardation, autosomal recessive 46 | | | | 27 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | NDST1 CL E G H | 3340 | 7680 | OMIM:616116 | Mental retardation, autosomal recessive 46 | . | | | 27 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | NFASC CL E G H | 23114 | 29866 | OMIM:618356 | Neurodevelopmental disorder with central and peripheral motor dysfunction | . | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | NFIB CL E G H | 4781 | 7785 | OMIM:618286 | Macrocephaly, acquired, with impaired intellectual development | HP:0040284 - Very rare | | | 1 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | NFIX CL E G H | 4784 | 7788 | ORPHA:447980 | 19p13.3 microduplication syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | NIPA1 CL E G H | 123606 | 17043 | ORPHA:261183 | 15q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 117 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | NIPA2 CL E G H | 81614 | 17044 | ORPHA:261183 | 15q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | NKAP CL E G H | 79576 | 29873 | OMIM:301039 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040283 - Occasional | | | 544 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | NSDHL CL E G H | 50814 | 13398 | OMIM:300831 | Ck syndrome | . | | | 34 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | NSDHL CL E G H | 50814 | 13398 | ORPHA:251383 | CK syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | NTNG2 CL E G H | 84628 | 14288 | OMIM:618718 | NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH | | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | | | | 97 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | | | | 97 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 121 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 121 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | OCRL CL E G H | 4952 | 8108 | OMIM:309000 | Lowe syndrome | . | | | 88 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040282 - Frequent | | | 88 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ODC1 CL E G H | 4953 | 8109 | OMIM:619075 | BACHMANN-BUPP SYNDROME; BABS | | | | 1 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | ODC1 CL E G H | 4953 | 8109 | ORPHA:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ODC1 CL E G H | 4953 | 8109 | ORPHA:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | OPHN1 CL E G H | 4983 | 8148 | OMIM:300486 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | | | | 55 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | PACS1 CL E G H | 55690 | 30032 | OMIM:615009 | Schuurs-Hoeijmakers syndrome | . | | | 24 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | PAH CL E G H | 5053 | 8582 | ORPHA:79254 | Classic phenylketonuria | HP:0040283 - Occasional | | | 641 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | PAK3 CL E G H | 5063 | 8592 | OMIM:300558 | MENTAL RETARDATION, X-LINKED 30; MRX30 | | | | 27 | | |
HP:0006919 | HP:0008760 | Violent behavior | 1 | PANK2 CL E G H | 80025 | 15894 | ORPHA:216873 | Atypical pantothenate kinase-associated neurodegeneration | HP:0040282 - Frequent | | | 55 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | PCDH19 CL E G H | 57526 | 14270 | OMIM:300088 | Epileptic encephalopathy, early infantile, 9 | . | | | 225 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:101039 | Female restricted epilepsy with intellectual disability | HP:0040282 - Frequent | | | 225 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | PDE2A CL E G H | 5138 | 8777 | OMIM:619150 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS | | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | PHIP CL E G H | 55023 | 15673 | OMIM:617991 | Developmental delay, intellectual disability, obesity, and dysmorphic features | . | | | 11 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | PIDD1 CL E G H | 55367 | 16491 | OMIM:619827 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75 | | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | PIDD1 CL E G H | 55367 | 16491 | OMIM:619827 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75 | | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | PIGH CL E G H | 5283 | 8964 | OMIM:618010 | Glycosylphosphatidylinositol biosynthesis defect 17 | . | | | 1 | | |
HP:0006919 | HP:0008760 | Violent behavior | 1 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | . | | | 2 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | . | | | 133 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 244 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040284 - Very rare | | | 35 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | . | | | 35 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | POU4F1 CL E G H | 5457 | 9218 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | HP:0040282 - Frequent | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | PPP2R5D CL E G H | 5528 | 9312 | ORPHA:457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 148 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | PRNP CL E G H | 5621 | 9449 | OMIM:137440 | Gerstmann-Straussler disease | . | | | 69 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | PRNP CL E G H | 5621 | 9449 | OMIM:603218 | Huntington disease-like 1 | . | | | 69 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | PRODH CL E G H | 5625 | 9453 | OMIM:239500 | Hyperprolinemia, type I | . | | | 13 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:98811 | Paroxysmal exertion-induced dyskinesia | HP:0040283 - Occasional | | | 94 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 241 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | PSMB1 CL E G H | 5689 | 9537 | OMIM:620038 | | | | | 2 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | PTCHD1 CL E G H | 139411 | 26392 | OMIM:300830 | Autism, susceptibility to, X-linked 4 | . | | | 34 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | PUS3 CL E G H | 83480 | 25461 | ORPHA:488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | PUS7 CL E G H | 54517 | 26033 | OMIM:618342 | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | . | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:481152 | PYCR2-related microcephaly-progressive leukoencephalopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | RBBP8 CL E G H | 5932 | 9891 | OMIM:251255 | Jawad syndrome | . | | | 68 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | RBL2 CL E G H | 5934 | 9894 | OMIM:619690 | BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG | | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | RERE CL E G H | 473 | 9965 | ORPHA:494344 | RERE-related neurodevelopmental syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | . | | | 7 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | . | | | 7 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | RORB CL E G H | 6096 | 10259 | OMIM:618357 | Epilepsy, idiopathic generalized, susceptibility to, 15 | . | | | 3 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | RPL10 CL E G H | 6134 | 10298 | ORPHA:435938 | X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | RUSC2 CL E G H | 9853 | 23625 | OMIM:617773 | Mental retardation, autosomal recessive 61 | . | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SARS1 CL E G H | 6301 | 10537 | OMIM:617709 | Neurodevelopmental disorder with microcephaly, ataxia, and seizures | . | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SASS6 CL E G H | 163786 | 25403 | OMIM:616402 | Microcephaly 14, primary, autosomal recessive | . | | | 4 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251019 | 2q32q33 microdeletion syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SATB2 CL E G H | 23314 | 21637 | OMIM:612313 | Glass syndrome | . | | | 34 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040282 - Frequent | | | 34 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | | | | 34 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:2382 | Lennox-Gastaut syndrome | HP:0040282 - Frequent | | | 1053 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 126 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 427 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SETBP1 CL E G H | 26040 | 15573 | OMIM:616078 | Mental retardation, autosomal dominant 29 | | | | 143 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SETBP1 CL E G H | 26040 | 15573 | OMIM:616078 | Mental retardation, autosomal dominant 29 | | | | 143 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SETD1A CL E G H | 9739 | 29010 | OMIM:619056 | NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID | | | | 6 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SETD2 CL E G H | 29072 | 18420 | OMIM:616831 | Luscan-Lumish syndrome | | | | 60 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:329249 | Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency | HP:0040282 - Frequent | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | | | | 53 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SHQ1 CL E G H | 55164 | 25543 | OMIM:619922 | | | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | | | | 40 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 63 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SLC1A4 CL E G H | 6509 | 10942 | ORPHA:447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | | | | 4 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247585 | Citrullinemia type II | HP:0040282 - Frequent | | | 82 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 166 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:98811 | Paroxysmal exertion-induced dyskinesia | HP:0040283 - Occasional | | | 255 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | HP:0040282 - Frequent | | | 1 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SLC52A2 CL E G H | 79581 | 30224 | OMIM:614707 | Brown-Vialetto-Van laere syndrome 2 | HP:0040283 - Occasional | | | 47 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SLC6A17 CL E G H | 388662 | 31399 | OMIM:616269 | Mental retardation, autosomal recessive 48 | . | | | 12 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SLC6A17 CL E G H | 388662 | 31399 | OMIM:616269 | Mental retardation, autosomal recessive 48 | | | | 12 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SLC6A17 CL E G H | 388662 | 31399 | ORPHA:457212 | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SLC6A17 CL E G H | 388662 | 31399 | ORPHA:457212 | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | | | | 12 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SLC6A4 CL E G H | 6532 | 11050 | OMIM:164230 | Obsessive-Compulsive disorder 1 | | | | 52 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SLC6A8 CL E G H | 6535 | 11055 | OMIM:300352 | Creatine deficiency syndrome, X-linked | . | | | 122 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SLC6A8 CL E G H | 6535 | 11055 | ORPHA:52503 | X-linked creatine transporter deficiency | | | | 122 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SLITRK1 CL E G H | 114798 | 20297 | OMIM:137580 | Gilles de la tourette syndrome | | | | 58 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SLITRK1 CL E G H | 114798 | 20297 | OMIM:137580 | Gilles de la tourette syndrome | . | | | 58 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SLITRK1 CL E G H | 114798 | 20297 | OMIM:613229 | TRICHOTILLOMANIA | | | | 58 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | . | | | 146 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 617 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SMARCC2 CL E G H | 6601 | 11105 | OMIM:618362 | Coffin-Siris syndrome 8 | . | | | 1 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SMARCC2 CL E G H | 6601 | 11105 | OMIM:618362 | Coffin-Siris syndrome 8 | . | | | 1 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SMG8 CL E G H | 55181 | 25551 | OMIM:619268 | ALZAHRANI-KUWAHARA SYNDROME; ALKUS | | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 37 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 37 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 37 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | | | | 37 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SOX5 CL E G H | 6660 | 11201 | ORPHA:313892 | Developmental and speech delay due to SOX5 deficiency | HP:0040283 - Occasional | | | 11 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SOX5 CL E G H | 6660 | 11201 | ORPHA:313892 | Developmental and speech delay due to SOX5 deficiency | HP:0040283 - Occasional | | | 11 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SPAST CL E G H | 6683 | 11233 | OMIM:182601 | Spastic paraplegia 4, autosomal dominant | . | | | 208 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SPATA5 CL E G H | 166378 | 18119 | ORPHA:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | HP:0040284 - Very rare | | | 19 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SPOP CL E G H | 8405 | 11254 | OMIM:618828 | NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1 | | | | 16 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SPR CL E G H | 6697 | 11257 | OMIM:612716 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | . | | | 28 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0006919 | HP:0008760 | Violent behavior | 1 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 62 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | STEEP1 CL E G H | 63932 | 26239 | OMIM:301013 | MENTAL RETARDATION, X-LINKED 107; MRX107 | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | STT3A CL E G H | 3703 | 6172 | OMIM:619714 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD | | | | 21 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SUCLG1 CL E G H | 8802 | 11449 | ORPHA:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | HP:0040283 - Occasional | | | 60 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SYN1 CL E G H | 6853 | 11494 | OMIM:300491 | Epilepsy, X-linked, with variable learning disabilities and behavior disorders | . | | | 58 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | SYN1 CL E G H | 6853 | 11494 | ORPHA:85294 | X-linked epilepsy-learning disabilities-behavior disorders syndrome | HP:0040281 - Very frequent | | | 58 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SYT1 CL E G H | 6857 | 11509 | OMIM:618218 | Baker-Gordon syndrome | . | | | 1 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | | | | 1 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | TAOK1 CL E G H | 57551 | 29259 | OMIM:619575 | DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | . | | | 7 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | TBX1 CL E G H | 6899 | 11592 | OMIM:192430 | Velocardiofacial syndrome | . | | | 32 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | TCF20 CL E G H | 6942 | 11631 | OMIM:618430 | Developmental delay with variable intellectual impairment and behavioral abnormalities | . | | | 1 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | HP:0040283 - Occasional | | | 241 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | HP:0040283 - Occasional | | | 241 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | THOC2 CL E G H | 57187 | 19073 | ORPHA:457240 | X-linked intellectual disability-short stature-overweight syndrome | | | | 5 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | TIMM50 CL E G H | 92609 | 23656 | ORPHA:505216 | 3-methylglutaconic aciduria type 9 | HP:0040281 - Very frequent | | | 1 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | TIMM50 CL E G H | 92609 | 23656 | OMIM:617698 | 3-methylglutaconic aciduria, type IX | . | | | 1 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | TKT CL E G H | 7086 | 11834 | OMIM:617044 | Short stature, developmental delay, and congenital heart defects | . | | | 4 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | TKT CL E G H | 7086 | 11834 | ORPHA:488618 | Transketolase deficiency | HP:0040283 - Occasional | | | 4 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | TMEM222 CL E G H | 84065 | 25363 | OMIM:619470 | NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA | | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | TMEM231 CL E G H | 79583 | 37234 | OMIM:614970 | Joubert syndrome 20 | | | | 33 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | TMEM231 CL E G H | 79583 | 37234 | OMIM:614970 | Joubert syndrome 20 | HP:0040282 - Frequent | | | 33 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | . | | | 9 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | TRAPPC10 CL E G H | 7109 | 11868 | OMIM:620027 | | | | | 1 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | TREM2 CL E G H | 54209 | 17761 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 31 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | TRIO CL E G H | 7204 | 12303 | OMIM:618825 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63 | | | | 8 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | . | | | 8 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | | | | 8 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | | | | 8 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | TRIP12 CL E G H | 9320 | 12306 | OMIM:617752 | Mental retardation, autosomal dominant 49 | . | | | 2 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 1090 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 1090 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 2738 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 2738 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | TTC19 CL E G H | 54902 | 26006 | OMIM:615157 | Mitochondrial complex III deficiency, nuclear type 2 | . | | | 88 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | TTC5 CL E G H | 91875 | 19274 | OMIM:619244 | NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | TTI2 CL E G H | 80185 | 26262 | OMIM:615541 | Mental retardation, autosomal recessive 39 | . | | | 11 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | TTI2 CL E G H | 80185 | 26262 | ORPHA:391307 | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | TUBG1 CL E G H | 7283 | 12417 | ORPHA:261183 | 15q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | TYROBP CL E G H | 7305 | 12449 | OMIM:221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | . | | | 22 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040282 - Frequent | | | 7 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | UBE4A CL E G H | 9354 | 12499 | OMIM:619639 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS | | | | 1 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | UBTF CL E G H | 7343 | 12511 | ORPHA:500180 | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | HP:0040283 - Occasional | | | 1 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040283 - Occasional | | | 23 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | UQCC2 CL E G H | 84300 | 21237 | OMIM:615824 | Mitochondrial complex III deficiency, nuclear type 7 | . | | | 7 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | UROC1 CL E G H | 131669 | 26444 | OMIM:276880 | Urocanase deficiency | . | | | 8 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | | | | 2 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | USP7 CL E G H | 7874 | 12630 | OMIM:616863 | Chromosome 16p13.2 deletion syndrome | | | | 2 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | USP9X CL E G H | 8239 | 12632 | OMIM:300919 | MENTAL RETARDATION, X-LINKED 99; MRX99 | | | | 27 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | VAMP2 CL E G H | 6844 | 12643 | OMIM:618760 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 63 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | | | | 130 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | . | | | 130 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | VPS16 CL E G H | 64601 | 14584 | OMIM:619291 | DYSTONIA 30; DYT30 | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | . | | | 20 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | WAC CL E G H | 51322 | 17327 | ORPHA:284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | HP:0040282 - Frequent | | | 20 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | HP:0040283 - Occasional | | | 20 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | HP:0040283 - Occasional | | | 20 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | WARS2 CL E G H | 10352 | 12730 | OMIM:617710 | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | . | | | 2 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | WARS2 CL E G H | 10352 | 12730 | OMIM:619738 | PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3 | | | | 2 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | HP:0040282 - Frequent | | | 2 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | WASF1 CL E G H | 8936 | 12732 | OMIM:618707 | NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS | | | | | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | WASHC4 CL E G H | 23325 | 29174 | OMIM:615817 | Mental retardation, autosomal recessive 43 | | | | 25 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | WDR45 CL E G H | 11152 | 28912 | ORPHA:329284 | Beta-propeller protein-associated neurodegeneration | HP:0040283 - Occasional | | | 51 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | WDR45 CL E G H | 11152 | 28912 | OMIM:300894 | Neurodegeneration with brain iron accumulation 5 | HP:0040283 - Occasional | | | 51 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | . | | | 224 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | | | | 224 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0006919 | HP:0100716 | Self-injurious behavior | 1 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ZMIZ1 CL E G H | 57178 | 16493 | OMIM:618659 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA | | | | | | |
HP:0006919 | HP:0000718 | Aggressive behavior | 1 | ZMYND11 CL E G H | 10771 | 16966 | OMIM:616083 | Mental retardation, autosomal dominant 30 | . | | | 24 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | ADSL CL E G H | 158 | 291 | OMIM:103050 | Adenylosuccinase deficiency | . | | | 118 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | ALG13 CL E G H | 79868 | 30881 | OMIM:300884 | Epileptic encephalopathy, early infantile, 36 | | | | 96 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | ATG7 CL E G H | 10533 | 16935 | OMIM:619422 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31 | | | | 1 | | |
HP:0006919 | HP:0012169 | Self-biting | 2 | ATP1A1 CL E G H | 476 | 799 | OMIM:618314 | Hypomagnesemia, seizures, and mental retardation 2 | . | | | 4 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | AUH CL E G H | 549 | 890 | OMIM:250950 | 3-methylglutaconic aciduria, type I | | | | 49 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 101 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | CAMK2G CL E G H | 818 | 1463 | OMIM:618522 | Intellectual developmental disorder 59 | | | | 1 | | |
HP:0006919 | HP:0012169 | Self-biting | 2 | CEP104 CL E G H | 9731 | 24866 | OMIM:619988 | | | | | 5 | | |
HP:0006919 | HP:0012166 | Skin-picking | 2 | CHD5 CL E G H | 26038 | 16816 | OMIM:619873 | | | | | | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | HP:0040282 - Frequent | | | 6 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | CNTNAP2 CL E G H | 26047 | 13830 | ORPHA:163681 | CNTNAP2-related developmental and epileptic encephalopathy | | | | 518 | | |
HP:0006919 | HP:0012166 | Skin-picking | 2 | CNTNAP2 CL E G H | 26047 | 13830 | ORPHA:163681 | CNTNAP2-related developmental and epileptic encephalopathy | | | | 518 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:615075 | Neurodevelopmental disorder with spastic diplegia and visual defects | | | | 88 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0006919 | HP:0012169 | Self-biting | 2 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | | | | 94 | | |
HP:0006919 | HP:0012168 | Head-banging | 2 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040284 - Very rare | | | 38 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | DPYD CL E G H | 1806 | 3012 | ORPHA:293948 | 1p21.3 microdeletion syndrome | HP:0040283 - Occasional | | | 144 | | |
HP:0006919 | HP:0012167 | Hair-pulling | 2 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | | | | 60 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0006919 | HP:0012169 | Self-biting | 2 | FMR1 CL E G H | 2332 | 3775 | OMIM:300624 | Fragile X mental retardation syndrome | | | | 30 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | GATAD2B CL E G H | 57459 | 30778 | ORPHA:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | GRIA3 CL E G H | 2892 | 4573 | ORPHA:364028 | X-linked intellectual disability due to GRIA3 mutations | HP:0040283 - Occasional | | | 30 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | HDC CL E G H | 3067 | 4855 | OMIM:137580 | Gilles de la tourette syndrome | . | | | 1 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | HERC2 CL E G H | 8924 | 4868 | OMIM:615516 | Mental retardation, autosomal recessive 38 | | | | 38 | | |
HP:0006919 | HP:0012166 | Skin-picking | 2 | HTR2A CL E G H | 3356 | 5293 | OMIM:164230 | Obsessive-Compulsive disorder 1 | | | | 4 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | . | | | 111 | | |
HP:0006919 | HP:0012168 | Head-banging | 2 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0006919 | HP:0012166 | Skin-picking | 2 | KMT2E CL E G H | 55904 | 18541 | OMIM:618512 | O'donnell-Luria-Rodan syndrome | . | | | 1 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | LARP7 CL E G H | 51574 | 24912 | ORPHA:319671 | Alazami syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0006919 | HP:0012166 | Skin-picking | 2 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040282 - Frequent | | | 63 | | |
HP:0006919 | HP:0012166 | Skin-picking | 2 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 63 | | |
HP:0006919 | HP:0012166 | Skin-picking | 2 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 63 | | |
HP:0006919 | HP:0012166 | Skin-picking | 2 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 63 | | |
HP:0006919 | HP:0012166 | Skin-picking | 2 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | | | | 63 | | |
HP:0006919 | HP:0012168 | Head-banging | 2 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | . | | | 39 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | MYT1L CL E G H | 23040 | 7623 | OMIM:616521 | Mental retardation, autosomal dominant 39 | | | | 13 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 23 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | NAT8L CL E G H | 339983 | 26742 | OMIM:614063 | N-ACETYLASPARTATE DEFICIENCY | . | | | 1 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | NDE1 CL E G H | 54820 | 17619 | OMIM:605013 | MICROHYDRANENCEPHALY | . | | | 96 | | |
HP:0006919 | HP:0012166 | Skin-picking | 2 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | | | |
HP:0006919 | HP:0012166 | Skin-picking | 2 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | | | |
HP:0006919 | HP:0012166 | Skin-picking | 2 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | | | |
HP:0006919 | HP:0012169 | Self-biting | 2 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | HP:0040281 - Very frequent | | | 97 | | |
HP:0006919 | HP:0012169 | Self-biting | 2 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | | | | 97 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | . | | | 97 | | |
HP:0006919 | HP:0012166 | Skin-picking | 2 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 121 | | |
HP:0006919 | HP:0012166 | Skin-picking | 2 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 121 | | |
HP:0006919 | HP:0012166 | Skin-picking | 2 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | OPHN1 CL E G H | 4983 | 8148 | OMIM:300486 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | | | | 55 | | |
HP:0006919 | HP:0012169 | Self-biting | 2 | PIDD1 CL E G H | 55367 | 16491 | OMIM:619827 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75 | | | | | | |
HP:0006919 | HP:0012168 | Head-banging | 2 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0006919 | HP:0012168 | Head-banging | 2 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | . | | | 150 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040283 - Occasional | | | 34 | | |
HP:0006919 | HP:0012167 | Hair-pulling | 2 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | HP:0040283 - Occasional | | | 53 | | |
HP:0006919 | HP:0012166 | Skin-picking | 2 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0006919 | HP:0012167 | Hair-pulling | 2 | SLC1A4 CL E G H | 6509 | 10942 | ORPHA:447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | SLC6A17 CL E G H | 388662 | 31399 | OMIM:616269 | Mental retardation, autosomal recessive 48 | . | | | 12 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | SLC6A17 CL E G H | 388662 | 31399 | ORPHA:457212 | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0006919 | HP:0012166 | Skin-picking | 2 | SLC6A4 CL E G H | 6532 | 11050 | OMIM:164230 | Obsessive-Compulsive disorder 1 | | | | 52 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | SLC6A8 CL E G H | 6535 | 11055 | ORPHA:52503 | X-linked creatine transporter deficiency | HP:0040282 - Frequent | | | 122 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | SLITRK1 CL E G H | 114798 | 20297 | OMIM:137580 | Gilles de la tourette syndrome | . | | | 58 | | |
HP:0006919 | HP:0012167 | Hair-pulling | 2 | SLITRK1 CL E G H | 114798 | 20297 | OMIM:613229 | TRICHOTILLOMANIA | . | | | 58 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | SMG8 CL E G H | 55181 | 25551 | OMIM:619268 | ALZAHRANI-KUWAHARA SYNDROME; ALKUS | | | | | | |
HP:0006919 | HP:0012166 | Skin-picking | 2 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 37 | | |
HP:0006919 | HP:0012166 | Skin-picking | 2 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 37 | | |
HP:0006919 | HP:0012166 | Skin-picking | 2 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 37 | | |
HP:0006919 | HP:0012166 | Skin-picking | 2 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0006919 | HP:0012168 | Head-banging | 2 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0006919 | HP:0012168 | Head-banging | 2 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0006919 | HP:0012169 | Self-biting | 2 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0006919 | HP:0012168 | Head-banging | 2 | TAOK1 CL E G H | 57551 | 29259 | OMIM:619575 | DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB | | | | | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | THOC2 CL E G H | 57187 | 19073 | ORPHA:457240 | X-linked intellectual disability-short stature-overweight syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | TMEM231 CL E G H | 79583 | 37234 | OMIM:614970 | Joubert syndrome 20 | HP:0040282 - Frequent | | | 33 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0006919 | HP:0012166 | Skin-picking | 2 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | | | | 130 | | |
HP:0006919 | HP:0012168 | Head-banging | 2 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | | | | 130 | | |
HP:0006919 | HP:0012167 | Hair-pulling | 2 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |
HP:0006919 | HP:0000742 | Self-mutilation | 2 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | | | | 224 | | |
HP:0006919 | HP:0012170 | Nail-biting | 3 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | HP:0040282 - Frequent | | | 97 | | |
HP:0006919 | HP:0012170 | Nail-biting | 3 | PIDD1 CL E G H | 55367 | 16491 | OMIM:619827 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75 | | | | | | |
HP:0006919 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 3 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | . | | | 130 | | |
HP:0006919 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 3 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |