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:0100716 | HP:0100716 | Self-injurious behavior | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:457 | Harlequin ichthyosis | HP:0040283 - Occasional | | | 130 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | ADSL CL E G H | 158 | 291 | OMIM:103050 | Adenylosuccinase deficiency | | | | 118 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | ALDH5A1 CL E G H | 7915 | 408 | OMIM:271980 | Succinic semialdehyde dehydrogenase deficiency | . | | | 108 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | ALG13 CL E G H | 79868 | 30881 | OMIM:300884 | Epileptic encephalopathy, early infantile, 36 | | | | 96 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | ALG14 CL E G H | 199857 | 28287 | OMIM:619031 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF | | | | 12 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | AP1G1 CL E G H | 164 | 555 | OMIM:619467 | USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD | | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | AP1S2 CL E G H | 8905 | 560 | OMIM:304340 | Pettigrew syndrome | . | | | 13 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 166 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | ATG7 CL E G H | 10533 | 16935 | OMIM:619422 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31 | | | | 1 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | ATP1A1 CL E G H | 476 | 799 | OMIM:618314 | Hypomagnesemia, seizures, and mental retardation 2 | | | | 4 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | ATP6V0A1 CL E G H | 535 | 865 | OMIM:619970 | | | | | 1 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | AUH CL E G H | 549 | 890 | OMIM:250950 | 3-methylglutaconic aciduria, type I | | | | 49 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040283 - Occasional | | | 101 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 101 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | CAMK2G CL E G H | 818 | 1463 | OMIM:618522 | Intellectual developmental disorder 59 | | | | 1 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 118 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 405 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | CEP104 CL E G H | 9731 | 24866 | OMIM:619988 | | | | | 5 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | CEP152 CL E G H | 22995 | 29298 | OMIM:614852 | Microcephaly 9, primary, autosomal recessive | | | | 146 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | CHD5 CL E G H | 26038 | 16816 | OMIM:619873 | | | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | CHKA CL E G H | 1119 | 1937 | OMIM:620023 | | | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | CLCN4 CL E G H | 1183 | 2022 | ORPHA:485350 | CLCN4-related X-linked intellectual disability syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | | | | 6 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | CNTNAP2 CL E G H | 26047 | 13830 | ORPHA:163681 | CNTNAP2-related developmental and epileptic encephalopathy | | | | 518 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | CRBN CL E G H | 51185 | 30185 | OMIM:607417 | Mental retardation, autosomal recessive 2 | | | | 19 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | HP:0040283 - Occasional | | | 291 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040283 - Occasional | | | 291 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:615075 | Neurodevelopmental disorder with spastic diplegia and visual defects | | | | 88 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:404473 | Severe intellectual disability-progressive spastic diplegia syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | DCHS1 CL E G H | 8642 | 13681 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040282 - Frequent | | | 159 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | DNM1 CL E G H | 1759 | 2972 | OMIM:616346 | Epileptic encephalopathy, early infantile, 31 | HP:0040283 - Occasional | | | 72 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | | | | 94 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | | | | 38 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:293948 | 1p21.3 microdeletion syndrome | HP:0040283 - Occasional | | | 144 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | | | | 60 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040283 - Occasional | | | 223 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | ELP2 CL E G H | 55250 | 18248 | OMIM:617270 | Mental retardation, autosomal recessive 58 | | | | 6 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040283 - Occasional | | | 250 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | FBXW11 CL E G H | 23291 | 13607 | OMIM:618914 | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED | | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300624 | Fragile X mental retardation syndrome | | | | 30 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:908 | Fragile X syndrome | HP:0040283 - Occasional | | | 30 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:449291 | Symptomatic form of fragile X syndrome in female carriers | HP:0040284 - Very rare | | | 30 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | FOXP1 CL E G H | 27086 | 3823 | OMIM:613670 | Mental retardation with language impairment and with or without autistic features | | | | 184 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | GABBR2 CL E G H | 9568 | 4507 | OMIM:617904 | Epileptic encephalopathy, early infantile, 59 | . | | | 5 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | GAMT CL E G H | 2593 | 4136 | ORPHA:382 | Guanidinoacetate methyltransferase deficiency | HP:0040283 - Occasional | | | 91 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | GATAD2B CL E G H | 57459 | 30778 | ORPHA:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | | | | 33 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:494 | Keratoderma hereditarium mutilans | HP:0040283 - Occasional | | | 199 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | GLS CL E G H | 2744 | 4331 | OMIM:618339 | Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | . | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 36 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | GNAO1 CL E G H | 2775 | 4389 | OMIM:617493 | Neurodevelopmental disorder with involuntary movements | . | | | 36 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | GRIA1 CL E G H | 2890 | 4571 | OMIM:619931 | | | | | 3 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | GRIA2 CL E G H | 2891 | 4572 | OMIM:618917 | NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB | | | | 1 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | GRIA3 CL E G H | 2892 | 4573 | OMIM:300699 | Mental retardation, X-linked 94 | | | | 30 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | GRIA3 CL E G H | 2892 | 4573 | ORPHA:364028 | X-linked intellectual disability due to GRIA3 mutations | | | | 30 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:208447 | Bilateral generalized polymicrogyria | HP:0040283 - Occasional | | | 108 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | GRIN1 CL E G H | 2902 | 4584 | OMIM:614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | . | | | 108 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | GRIN1 CL E G H | 2902 | 4584 | OMIM:617820 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | . | | | 108 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 5 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | HDAC4 CL E G H | 9759 | 14063 | OMIM:600430 | Chromosome 2q37 deletion syndrome | . | | | 33 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | HDC CL E G H | 3067 | 4855 | OMIM:137580 | Gilles de la tourette syndrome | | | | 1 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | HECW2 CL E G H | 57520 | 29853 | OMIM:617268 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | | | | 11 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:615516 | Mental retardation, autosomal recessive 38 | | | | 38 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | HNRNPH2 CL E G H | 3188 | 5042 | OMIM:300986 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB | | | | 3 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | HPRT1 CL E G H | 3251 | 5157 | OMIM:300322 | Lesch-Nyhan syndrome | . | | | 76 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 345 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | HTR2A CL E G H | 3356 | 5293 | OMIM:164230 | Obsessive-Compulsive disorder 1 | | | | 4 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 23 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | | | | 111 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | 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:0100716 | HP:0100716 | Self-injurious behavior | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 119 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:613641 | Charcot-marie-tooth disease, recessive intermediate B | | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 145 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | KIF5C CL E G H | 3800 | 6325 | OMIM:615282 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2 | | | | 18 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | KMT2C CL E G H | 58508 | 13726 | OMIM:617768 | Kleefstra syndrome 2 | | | | 99 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | KMT2C CL E G H | 58508 | 13726 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040283 - Occasional | | | 99 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | KMT2E CL E G H | 55904 | 18541 | OMIM:618512 | O'donnell-Luria-Rodan syndrome | . | | | 1 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | KPTN CL E G H | 11133 | 6404 | ORPHA:397612 | Macrocephaly-developmental delay syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | KPTN CL E G H | 11133 | 6404 | OMIM:615637 | Mental retardation, autosomal recessive 41 | | | | 13 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | LARP7 CL E G H | 51574 | 24912 | ORPHA:319671 | Alazami syndrome | | | | 16 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | | | | 63 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | 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:0100716 | HP:0100716 | Self-injurious behavior | 0 | 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:0100716 | HP:0100716 | Self-injurious behavior | 0 | 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:0100716 | HP:0100716 | Self-injurious behavior | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | | | | 63 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | MAOA CL E G H | 4128 | 6833 | OMIM:300615 | Brunner syndrome | | | | 22 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | MBD5 CL E G H | 55777 | 20444 | ORPHA:228402 | 2q23.1 microdeletion syndrome | HP:0040282 - Frequent | | | 252 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | . | | | 252 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | | | | 39 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | MYT1L CL E G H | 23040 | 7623 | OMIM:616521 | Mental retardation, autosomal dominant 39 | | | | 13 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040283 - Occasional | | | 23 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 23 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040283 - Occasional | | | 48 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | NAT8L CL E G H | 339983 | 26742 | OMIM:614063 | N-ACETYLASPARTATE DEFICIENCY | | | | 1 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | NDE1 CL E G H | 54820 | 17619 | OMIM:605013 | MICROHYDRANENCEPHALY | | | | 96 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | HP:0040283 - Occasional | | | 39 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | NDST1 CL E G H | 3340 | 7680 | OMIM:616116 | Mental retardation, autosomal recessive 46 | | | | 27 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:447980 | 19p13.3 microduplication syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | NIPA1 CL E G H | 123606 | 17043 | ORPHA:261183 | 15q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 117 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | NIPA2 CL E G H | 81614 | 17044 | ORPHA:261183 | 15q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | NTNG2 CL E G H | 84628 | 14288 | OMIM:618718 | NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH | | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | | | | 97 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | | | | 97 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | 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:0100716 | HP:0100716 | Self-injurious behavior | 0 | 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:0100716 | HP:0100716 | Self-injurious behavior | 0 | 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:0100716 | HP:0100716 | Self-injurious behavior | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040282 - Frequent | | | 88 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | 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:0100716 | HP:0100716 | Self-injurious behavior | 0 | OPHN1 CL E G H | 4983 | 8148 | OMIM:300486 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | | | | 55 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | PAH CL E G H | 5053 | 8582 | ORPHA:79254 | Classic phenylketonuria | HP:0040283 - Occasional | | | 641 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0100716 | HP:0100716 | Self-injurious 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:0100716 | HP:0100716 | Self-injurious behavior | 0 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 244 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040284 - Very rare | | | 35 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | . | | | 35 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 148 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | RBL2 CL E G H | 5934 | 9894 | OMIM:619690 | BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG | | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | RERE CL E G H | 473 | 9965 | ORPHA:494344 | RERE-related neurodevelopmental syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | . | | | 7 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:435938 | X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | | | | 34 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 126 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 427 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:616078 | Mental retardation, autosomal dominant 29 | | | | 143 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | | | | 53 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | SHQ1 CL E G H | 55164 | 25543 | OMIM:619922 | | | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | | | | 40 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | SLC1A4 CL E G H | 6509 | 10942 | ORPHA:447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | | | | 4 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 166 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | SLC6A17 CL E G H | 388662 | 31399 | OMIM:616269 | Mental retardation, autosomal recessive 48 | | | | 12 | | |
HP:0100716 | HP:0100716 | Self-injurious 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:0100716 | HP:0100716 | Self-injurious behavior | 0 | SLC6A4 CL E G H | 6532 | 11050 | OMIM:164230 | Obsessive-Compulsive disorder 1 | | | | 52 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | SLC6A8 CL E G H | 6535 | 11055 | ORPHA:52503 | X-linked creatine transporter deficiency | | | | 122 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | SLITRK1 CL E G H | 114798 | 20297 | OMIM:137580 | Gilles de la tourette syndrome | | | | 58 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | SLITRK1 CL E G H | 114798 | 20297 | OMIM:613229 | TRICHOTILLOMANIA | | | | 58 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | SMARCC2 CL E G H | 6601 | 11105 | OMIM:618362 | Coffin-Siris syndrome 8 | . | | | 1 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | SMG8 CL E G H | 55181 | 25551 | OMIM:619268 | ALZAHRANI-KUWAHARA SYNDROME; ALKUS | | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | 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:0100716 | HP:0100716 | Self-injurious behavior | 0 | 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:0100716 | HP:0100716 | Self-injurious behavior | 0 | 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:0100716 | HP:0100716 | Self-injurious behavior | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | | | | 37 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | SOX5 CL E G H | 6660 | 11201 | ORPHA:313892 | Developmental and speech delay due to SOX5 deficiency | HP:0040283 - Occasional | | | 11 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | 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:0100716 | HP:0100716 | Self-injurious behavior | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618828 | NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1 | | | | 16 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | SYT1 CL E G H | 6857 | 11509 | OMIM:618218 | Baker-Gordon syndrome | . | | | 1 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | | | | 1 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | TAOK1 CL E G H | 57551 | 29259 | OMIM:619575 | DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB | | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | HP:0040283 - Occasional | | | 241 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | THOC2 CL E G H | 57187 | 19073 | ORPHA:457240 | X-linked intellectual disability-short stature-overweight syndrome | | | | 5 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | TKT CL E G H | 7086 | 11834 | OMIM:617044 | Short stature, developmental delay, and congenital heart defects | . | | | 4 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | TKT CL E G H | 7086 | 11834 | ORPHA:488618 | Transketolase deficiency | HP:0040283 - Occasional | | | 4 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | TMEM231 CL E G H | 79583 | 37234 | OMIM:614970 | Joubert syndrome 20 | | | | 33 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | | | | 8 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | | | | 8 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 1090 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 2738 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | TUBG1 CL E G H | 7283 | 12417 | ORPHA:261183 | 15q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040283 - Occasional | | | 23 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | | | | 2 | | |
HP:0100716 | HP:0100716 | Self-injurious 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:0100716 | HP:0100716 | Self-injurious behavior | 0 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | | | | 130 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | 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:0100716 | HP:0100716 | Self-injurious behavior | 0 | WASF1 CL E G H | 8936 | 12732 | OMIM:618707 | NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS | | | | | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | WASHC4 CL E G H | 23325 | 29174 | OMIM:615817 | Mental retardation, autosomal recessive 43 | | | | 25 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | | | | 224 | | |
HP:0100716 | HP:0100716 | Self-injurious behavior | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | ADSL CL E G H | 158 | 291 | OMIM:103050 | Adenylosuccinase deficiency | . | | | 118 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | ALG13 CL E G H | 79868 | 30881 | OMIM:300884 | Epileptic encephalopathy, early infantile, 36 | | | | 96 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | ATG7 CL E G H | 10533 | 16935 | OMIM:619422 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31 | | | | 1 | | |
HP:0100716 | HP:0012169 | Self-biting | 1 | ATP1A1 CL E G H | 476 | 799 | OMIM:618314 | Hypomagnesemia, seizures, and mental retardation 2 | . | | | 4 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | AUH CL E G H | 549 | 890 | OMIM:250950 | 3-methylglutaconic aciduria, type I | | | | 49 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 101 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | CAMK2G CL E G H | 818 | 1463 | OMIM:618522 | Intellectual developmental disorder 59 | | | | 1 | | |
HP:0100716 | HP:0012169 | Self-biting | 1 | CEP104 CL E G H | 9731 | 24866 | OMIM:619988 | | | | | 5 | | |
HP:0100716 | HP:0012166 | Skin-picking | 1 | CHD5 CL E G H | 26038 | 16816 | OMIM:619873 | | | | | | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | HP:0040282 - Frequent | | | 6 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | CNTNAP2 CL E G H | 26047 | 13830 | ORPHA:163681 | CNTNAP2-related developmental and epileptic encephalopathy | | | | 518 | | |
HP:0100716 | HP:0012166 | Skin-picking | 1 | CNTNAP2 CL E G H | 26047 | 13830 | ORPHA:163681 | CNTNAP2-related developmental and epileptic encephalopathy | | | | 518 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:615075 | Neurodevelopmental disorder with spastic diplegia and visual defects | | | | 88 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0100716 | HP:0012169 | Self-biting | 1 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | | | | 94 | | |
HP:0100716 | HP:0012168 | Head-banging | 1 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040284 - Very rare | | | 38 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | DPYD CL E G H | 1806 | 3012 | ORPHA:293948 | 1p21.3 microdeletion syndrome | HP:0040283 - Occasional | | | 144 | | |
HP:0100716 | HP:0012167 | Hair-pulling | 1 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | | | | 60 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0100716 | HP:0012169 | Self-biting | 1 | FMR1 CL E G H | 2332 | 3775 | OMIM:300624 | Fragile X mental retardation syndrome | | | | 30 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | 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:0100716 | HP:0000742 | Self-mutilation | 1 | GRIA3 CL E G H | 2892 | 4573 | ORPHA:364028 | X-linked intellectual disability due to GRIA3 mutations | HP:0040283 - Occasional | | | 30 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | HDC CL E G H | 3067 | 4855 | OMIM:137580 | Gilles de la tourette syndrome | . | | | 1 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | HERC2 CL E G H | 8924 | 4868 | OMIM:615516 | Mental retardation, autosomal recessive 38 | | | | 38 | | |
HP:0100716 | HP:0012166 | Skin-picking | 1 | HTR2A CL E G H | 3356 | 5293 | OMIM:164230 | Obsessive-Compulsive disorder 1 | | | | 4 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | . | | | 111 | | |
HP:0100716 | HP:0012168 | Head-banging | 1 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0100716 | HP:0012166 | Skin-picking | 1 | KMT2E CL E G H | 55904 | 18541 | OMIM:618512 | O'donnell-Luria-Rodan syndrome | . | | | 1 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | LARP7 CL E G H | 51574 | 24912 | ORPHA:319671 | Alazami syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0100716 | HP:0012166 | Skin-picking | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040282 - Frequent | | | 63 | | |
HP:0100716 | HP:0012166 | Skin-picking | 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:0100716 | HP:0012166 | Skin-picking | 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:0100716 | HP:0012166 | Skin-picking | 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:0100716 | HP:0012166 | Skin-picking | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | | | | 63 | | |
HP:0100716 | HP:0012168 | Head-banging | 1 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | . | | | 39 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | MYT1L CL E G H | 23040 | 7623 | OMIM:616521 | Mental retardation, autosomal dominant 39 | | | | 13 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 23 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | NAT8L CL E G H | 339983 | 26742 | OMIM:614063 | N-ACETYLASPARTATE DEFICIENCY | . | | | 1 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | NDE1 CL E G H | 54820 | 17619 | OMIM:605013 | MICROHYDRANENCEPHALY | . | | | 96 | | |
HP:0100716 | HP:0012166 | Skin-picking | 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:0100716 | HP:0012166 | Skin-picking | 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:0100716 | HP:0012166 | Skin-picking | 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:0100716 | HP:0012169 | Self-biting | 1 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | HP:0040281 - Very frequent | | | 97 | | |
HP:0100716 | HP:0012169 | Self-biting | 1 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | | | | 97 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | . | | | 97 | | |
HP:0100716 | HP:0012166 | Skin-picking | 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:0100716 | HP:0012166 | Skin-picking | 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:0100716 | HP:0012166 | Skin-picking | 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:0100716 | HP:0000742 | Self-mutilation | 1 | OPHN1 CL E G H | 4983 | 8148 | OMIM:300486 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | | | | 55 | | |
HP:0100716 | HP:0012169 | Self-biting | 1 | PIDD1 CL E G H | 55367 | 16491 | OMIM:619827 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75 | | | | | | |
HP:0100716 | HP:0012168 | Head-banging | 1 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0100716 | HP:0012168 | Head-banging | 1 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | . | | | 150 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040283 - Occasional | | | 34 | | |
HP:0100716 | HP:0012167 | Hair-pulling | 1 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | HP:0040283 - Occasional | | | 53 | | |
HP:0100716 | HP:0012166 | Skin-picking | 1 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0100716 | HP:0012167 | Hair-pulling | 1 | SLC1A4 CL E G H | 6509 | 10942 | ORPHA:447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | SLC6A17 CL E G H | 388662 | 31399 | OMIM:616269 | Mental retardation, autosomal recessive 48 | . | | | 12 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 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:0100716 | HP:0012166 | Skin-picking | 1 | SLC6A4 CL E G H | 6532 | 11050 | OMIM:164230 | Obsessive-Compulsive disorder 1 | | | | 52 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | SLC6A8 CL E G H | 6535 | 11055 | ORPHA:52503 | X-linked creatine transporter deficiency | HP:0040282 - Frequent | | | 122 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | SLITRK1 CL E G H | 114798 | 20297 | OMIM:137580 | Gilles de la tourette syndrome | . | | | 58 | | |
HP:0100716 | HP:0012167 | Hair-pulling | 1 | SLITRK1 CL E G H | 114798 | 20297 | OMIM:613229 | TRICHOTILLOMANIA | . | | | 58 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | SMG8 CL E G H | 55181 | 25551 | OMIM:619268 | ALZAHRANI-KUWAHARA SYNDROME; ALKUS | | | | | | |
HP:0100716 | HP:0012166 | Skin-picking | 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:0100716 | HP:0012166 | Skin-picking | 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:0100716 | HP:0012166 | Skin-picking | 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:0100716 | HP:0012166 | Skin-picking | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0100716 | HP:0012168 | Head-banging | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0100716 | HP:0012168 | Head-banging | 1 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0100716 | HP:0012169 | Self-biting | 1 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0100716 | HP:0012168 | Head-banging | 1 | TAOK1 CL E G H | 57551 | 29259 | OMIM:619575 | DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB | | | | | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | THOC2 CL E G H | 57187 | 19073 | ORPHA:457240 | X-linked intellectual disability-short stature-overweight syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | TMEM231 CL E G H | 79583 | 37234 | OMIM:614970 | Joubert syndrome 20 | HP:0040282 - Frequent | | | 33 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0100716 | HP:0012166 | Skin-picking | 1 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | | | | 130 | | |
HP:0100716 | HP:0012168 | Head-banging | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |
HP:0100716 | HP:0012167 | Hair-pulling | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | | | | 130 | | |
HP:0100716 | HP:0000742 | Self-mutilation | 1 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | | | | 224 | | |
HP:0100716 | HP:0012170 | Nail-biting | 2 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | HP:0040282 - Frequent | | | 97 | | |
HP:0100716 | HP:0012170 | Nail-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:0100716 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 2 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | . | | | 130 | | |
HP:0100716 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 2 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |