Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Abnormality of movement (HP:0100022)help
..Starting node
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Hyperactivity (HP:0000752)help
Term ID: 752
Name: Hyperactivity
Synonym: Hyperactive behavior; Hyperactive behaviour; More active than typical
Definition: Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate.
Comments:
Reference: HP:0000752
Genes and Diseases:
 
       Child Nodes:
........expandAttention deficit hyperactivity disorder (HP:0007018) help

 Sister Nodes: 
..expandAbnormal head movements (HP:0002457) help
..expandAbnormal posturing (HP:0002533) help
..expandAbnormal reflex (HP:0031826) help
..expandAstasia (HP:0020037) help
..expandAsterixis (HP:0012164) help
..expandBimanual synkinesia (HP:0001335) help
..expandCerebral palsy (HP:0100021) help
..expandDiminished movement (HP:0002374) help
..expandDyskinesia (HP:0100660) help
..expandDystonia (HP:0001332) help
..expandFrontal release signs (HP:0000743) help
..expandGait disturbance (HP:0001288) help
..expandHyperkinetic movements (HP:0002487) help
..expandInvoluntary movements (HP:0004305) help
..expandMuscle fibrillation (HP:0010546) help
..expandMyokymia (HP:0002411) help
..expandPostural instability (HP:0002172) help
..expandPrimitive reflex (HP:0002476) help
..expandStooped posture (HP:0025403) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000752HP:0000752Hyperactivity0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000752HP:0000752Hyperactivity0AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0000752HP:0000752Hyperactivity0AASS CL E G H1015717366OMIM:238700Hyperlysinemia, type I.15
HP:0000752HP:0000752Hyperactivity0ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy135
HP:0000752HP:0000752Hyperactivity0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040283 - Occasional135
HP:0000752HP:0000752Hyperactivity0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathy2
HP:0000752HP:0000752Hyperactivity0ACY1 CL E G H95177OMIM:609924Aminoacylase 1 deficiency.13
HP:0000752HP:0000752Hyperactivity0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0000752HP:0000752Hyperactivity0ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 36HP:0040284 - Very rare9
HP:0000752HP:0000752Hyperactivity0ADGRL1 CL E G H2285920973OMIM:620065
HP:0000752HP:0000752Hyperactivity0ADH5 CL E G H128253OMIM:619151AMED SYNDROME, DIGENIC; AMEDS
HP:0000752HP:0000752Hyperactivity0ADNP CL E G H2339415766ORPHA:404448ADNP syndrome47
HP:0000752HP:0000752Hyperactivity0ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome47
HP:0000752HP:0000752Hyperactivity0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0000752HP:0000752Hyperactivity0AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disabilityHP:0040282 - Frequent59
HP:0000752HP:0000752Hyperactivity0AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe.59
HP:0000752HP:0000752Hyperactivity0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000752HP:0000752Hyperactivity0ALDH5A1 CL E G H7915408OMIM:271980Succinic semialdehyde dehydrogenase deficiency.108
HP:0000752HP:0000752Hyperactivity0ALG14 CL E G H19985728287OMIM:619031INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF12
HP:0000752HP:0000752Hyperactivity0ALKBH8 CL E G H9180125189OMIM:618504Intellectual developmental disorder, autosomal recessive 71.
HP:0000752HP:0000752Hyperactivity0AMT CL E G H275473OMIM:605899Glycine encephalopathy.56
HP:0000752HP:0000752Hyperactivity0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 12
HP:0000752HP:0000752Hyperactivity0ANK3 CL E G H288494ORPHA:356996ANK3-related intellectual disability-sleep disturbance syndromeHP:0040282 - Frequent176
HP:0000752HP:0000752Hyperactivity0ANK3 CL E G H288494OMIM:615493Mental retardation, autosomal recessive 37.176
HP:0000752HP:0000752Hyperactivity0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0000752HP:0000752Hyperactivity0ANKRD17 CL E G H2605723575OMIM:619504CHOPRA-AMIEL-GORDON SYNDROME; CAGS2
HP:0000752HP:0000752Hyperactivity0AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000752HP:0000752Hyperactivity0AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent
HP:0000752HP:0000752Hyperactivity0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathy7
HP:0000752HP:0000752Hyperactivity0APC2 CL E G H1029724036ORPHA:821Sotos syndrome1
HP:0000752HP:0000752Hyperactivity0APC2 CL E G H1029724036OMIM:617169Sotos syndrome 3.1
HP:0000752HP:0000752Hyperactivity0ARG1 CL E G H383663OMIM:207800Argininemia.31
HP:0000752HP:0000752Hyperactivity0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional88
HP:0000752HP:0000752Hyperactivity0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0000752HP:0000752Hyperactivity0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional219
HP:0000752HP:0000752Hyperactivity0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional25
HP:0000752HP:0000752Hyperactivity0ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 625
HP:0000752HP:0000752Hyperactivity0ARPC4 CL E G H10093707OMIM:620141
HP:0000752HP:0000752Hyperactivity0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0000752HP:0000752Hyperactivity0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0000752HP:0000752Hyperactivity0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0000752HP:0000752Hyperactivity0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 52.1
HP:0000752HP:0000752Hyperactivity0ASPM CL E G H25926619048OMIM:608716Microcephaly 5, primary, autosomal recessive512
HP:0000752HP:0000752Hyperactivity0ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040283 - Occasional4
HP:0000752HP:0000752Hyperactivity0ATP1A1 CL E G H476799OMIM:618314Hypomagnesemia, seizures, and mental retardation 2.4
HP:0000752HP:0000752Hyperactivity0ATP1A2 CL E G H477800OMIM:619605DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98239
HP:0000752HP:0000752Hyperactivity0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathy239
HP:0000752HP:0000752Hyperactivity0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathy150
HP:0000752HP:0000752Hyperactivity0ATP6V0A1 CL E G H535865OMIM:6199711
HP:0000752HP:0000752Hyperactivity0ATP6V0A1 CL E G H535865OMIM:6199701
HP:0000752HP:0000752Hyperactivity0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0000752HP:0000752Hyperactivity0ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0000752HP:0000752Hyperactivity0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0000752HP:0000752Hyperactivity0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040283 - Occasional61
HP:0000752HP:0000752Hyperactivity0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 2661
HP:0000752HP:0000752Hyperactivity0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0000752HP:0000752Hyperactivity0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0000752HP:0000752Hyperactivity0BCAP31 CL E G H1013416695ORPHA:369939Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndromeHP:0040283 - Occasional8
HP:0000752HP:0000752Hyperactivity0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0000752HP:0000752Hyperactivity0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome17
HP:0000752HP:0000752Hyperactivity0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndrome5
HP:0000752HP:0000752Hyperactivity0BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type X385
HP:0000752HP:0000752Hyperactivity0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0000752HP:0000752Hyperactivity0BSCL2 CL E G H2658015832OMIM:615924Encephalopathy, progressive, with or without lipodystrophy.105
HP:0000752HP:0000752Hyperactivity0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040283 - Occasional105
HP:0000752HP:0000752Hyperactivity0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0000752HP:0000752Hyperactivity0C12ORF4 CL E G H571021184OMIM:618221Mental retardation, autosomal recessive 662
HP:0000752HP:0000752Hyperactivity0CABP4 CL E G H570101386ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy94
HP:0000752HP:0000752Hyperactivity0CACNA1A CL E G H7731388ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent449
HP:0000752HP:0000752Hyperactivity0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathy449
HP:0000752HP:0000752Hyperactivity0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathy5
HP:0000752HP:0000752Hyperactivity0CACNA1C CL E G H7751390OMIM:620029572
HP:0000752HP:0000752Hyperactivity0CACNA1H CL E G H89121395ORPHA:64280Childhood absence epilepsy75
HP:0000752HP:0000752Hyperactivity0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathy59
HP:0000752HP:0000752Hyperactivity0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation.34
HP:0000752HP:0000752Hyperactivity0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000752HP:0000752Hyperactivity0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional118
HP:0000752HP:0000752Hyperactivity0CC2D1A CL E G H5486230237OMIM:608443Mental retardation, autosomal recessive 3.57
HP:0000752HP:0000752Hyperactivity0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0000752HP:0000752Hyperactivity0CDC42BPB CL E G H95781738OMIM:619841
HP:0000752HP:0000752Hyperactivity0CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0000752HP:0000752Hyperactivity0CDH2 CL E G H10001759OMIM:619957
HP:0000752HP:0000752Hyperactivity0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000752HP:0000752Hyperactivity0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000752HP:0000752Hyperactivity0CDK8 CL E G H10241779OMIM:618748INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000752HP:0000752Hyperactivity0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional405
HP:0000752HP:0000752Hyperactivity0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutation114
HP:0000752HP:0000752Hyperactivity0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephaly200
HP:0000752HP:0000752Hyperactivity0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephaly200
HP:0000752HP:0000752Hyperactivity0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephaly200
HP:0000752HP:0000752Hyperactivity0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephaly200
HP:0000752HP:0000752Hyperactivity0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000752HP:0000752Hyperactivity0CHD2 CL E G H11061917ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent227
HP:0000752HP:0000752Hyperactivity0CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent227
HP:0000752HP:0000752Hyperactivity0CHD5 CL E G H2603816816OMIM:619873
HP:0000752HP:0000752Hyperactivity0CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0000752HP:0000752Hyperactivity0CHKA CL E G H11191937OMIM:620023
HP:0000752HP:0000752Hyperactivity0CHRNA2 CL E G H11351956ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy188
HP:0000752HP:0000752Hyperactivity0CHRNA4 CL E G H11371958ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy225
HP:0000752HP:0000752Hyperactivity0CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndrome52
HP:0000752HP:0000752Hyperactivity0CHRNB2 CL E G H11411962ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy88
HP:0000752HP:0000752Hyperactivity0CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 45.39
HP:0000752HP:0000752Hyperactivity0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000752HP:0000752Hyperactivity0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040283 - Occasional45
HP:0000752HP:0000752Hyperactivity0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0000752HP:0000752Hyperactivity0CLN5 CL E G H12032076ORPHA:228360CLN5 diseaseHP:0040282 - Frequent141
HP:0000752HP:0000752Hyperactivity0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0000752HP:0000752Hyperactivity0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0000752HP:0000752Hyperactivity0CNKSR2 CL E G H2286619701OMIM:301008MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG18
HP:0000752HP:0000752Hyperactivity0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathy18
HP:0000752HP:0000752Hyperactivity0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0000752HP:0000752Hyperactivity0CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1.518
HP:0000752HP:0000752Hyperactivity0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0000752HP:0000752Hyperactivity0CORO1A CL E G H111512252OMIM:615401Immunodeficiency 8.7
HP:0000752HP:0000752Hyperactivity0CRBN CL E G H5118530185OMIM:607417Mental retardation, autosomal recessive 219
HP:0000752HP:0000752Hyperactivity0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000752HP:0000752Hyperactivity0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040283 - Occasional291
HP:0000752HP:0000752Hyperactivity0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040283 - Occasional291
HP:0000752HP:0000752Hyperactivity0CRH CL E G H13922355ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy1
HP:0000752HP:0000752Hyperactivity0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndrome
HP:0000752HP:0000752Hyperactivity0CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000752HP:0000752Hyperactivity0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome12
HP:0000752HP:0000752Hyperactivity0CUL3 CL E G H84522553OMIM:619239NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS92
HP:0000752HP:0000752Hyperactivity0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type.38
HP:0000752HP:0000752Hyperactivity0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040281 - Very frequent38
HP:0000752HP:0000752Hyperactivity0CUX2 CL E G H2331619347ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent
HP:0000752HP:0000752Hyperactivity0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0000752HP:0000752Hyperactivity0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosis114
HP:0000752HP:0000752Hyperactivity0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000752HP:0000752Hyperactivity0DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0000752HP:0000752Hyperactivity0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000752HP:0000752Hyperactivity0DDX3X CL E G H16542745OMIM:300958MENTAL RETARDATION, X-LINKED 102; MRX10257
HP:0000752HP:0000752Hyperactivity0DDX3X CL E G H16542745ORPHA:457260X-linked intellectual disability-hypotonia-movement disorder syndromeHP:0040282 - Frequent57
HP:0000752HP:0000752Hyperactivity0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0000752HP:0000752Hyperactivity0DEPDC5 CL E G H968118423ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy172
HP:0000752HP:0000752Hyperactivity0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000752HP:0000752Hyperactivity0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0000752HP:0000752Hyperactivity0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathy47
HP:0000752HP:0000752Hyperactivity0DHTKD1 CL E G H5552623537OMIM:2047502-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD12
HP:0000752HP:0000752Hyperactivity0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephaly22
HP:0000752HP:0000752Hyperactivity0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephaly22
HP:0000752HP:0000752Hyperactivity0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephaly22
HP:0000752HP:0000752Hyperactivity0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephaly22
HP:0000752HP:0000752Hyperactivity0DLG3 CL E G H17412902OMIM:300850MENTAL RETARDATION, X-LINKED 90; MRX9030
HP:0000752HP:0000752Hyperactivity0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephaly3
HP:0000752HP:0000752Hyperactivity0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephaly3
HP:0000752HP:0000752Hyperactivity0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephaly3
HP:0000752HP:0000752Hyperactivity0DLL1 CL E G H285142908OMIM:618709NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS3
HP:0000752HP:0000752Hyperactivity0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephaly3
HP:0000752HP:0000752Hyperactivity0DMPK CL E G H17602933ORPHA:589821Congenital-onset Steinert myotonic dystrophy152
HP:0000752HP:0000752Hyperactivity0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0000752HP:0000752Hyperactivity0DNAJC12 CL E G H5652128908OMIM:617384Hyperphenylalaninemia, MILD, non-bh4-deficient3
HP:0000752HP:0000752Hyperactivity0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3HP:0040284 - Very rare5
HP:0000752HP:0000752Hyperactivity0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0000752HP:0000752Hyperactivity0DNM1 CL E G H17592972ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent72
HP:0000752HP:0000752Hyperactivity0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathy72
HP:0000752HP:0000752Hyperactivity0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional
HP:0000752HP:0000752Hyperactivity0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7.
HP:0000752HP:0000752Hyperactivity0DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome3
HP:0000752HP:0000752Hyperactivity0DPP6 CL E G H18043010OMIM:616311MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD3318
HP:0000752HP:0000752Hyperactivity0DPYD CL E G H18063012OMIM:274270Dihydropyrimidine dehydrogenase deficiency.144
HP:0000752HP:0000752Hyperactivity0DRD4 CL E G H18153025OMIM:143465Attention deficit-hyperactivity disorder.4
HP:0000752HP:0000752Hyperactivity0DRD5 CL E G H18163026OMIM:143465Attention deficit-hyperactivity disorder.3
HP:0000752HP:0000752Hyperactivity0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040283 - Occasional65
HP:0000752HP:0000752Hyperactivity0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies1
HP:0000752HP:0000752Hyperactivity0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutation134
HP:0000752HP:0000752Hyperactivity0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0000752HP:0000752Hyperactivity0EBP CL E G H106823133OMIM:300960Mend syndrome.51
HP:0000752HP:0000752Hyperactivity0EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040283 - Occasional51
HP:0000752HP:0000752Hyperactivity0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathy60
HP:0000752HP:0000752Hyperactivity0EIF2AK1 CL E G H2710224921OMIM:618878LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0000752HP:0000752Hyperactivity0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0000752HP:0000752Hyperactivity0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0000752HP:0000752Hyperactivity0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0000752HP:0000752Hyperactivity0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000752HP:0000752Hyperactivity0EP300 CL E G H20333373OMIM:613684Rubinstein-Taybi syndrome 2.250
HP:0000752HP:0000752Hyperactivity0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040283 - Occasional250
HP:0000752HP:0000752Hyperactivity0EPCAM CL E G H407211529ORPHA:144Lynch syndrome170
HP:0000752HP:0000752Hyperactivity0FAN1 CL E G H2290929170ORPHA:144Lynch syndrome15
HP:0000752HP:0000752Hyperactivity0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0000752HP:0000752Hyperactivity0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0000752HP:0000752Hyperactivity0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.7
HP:0000752HP:0000752Hyperactivity0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0000752HP:0000752Hyperactivity0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndrome62
HP:0000752HP:0000752Hyperactivity0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0000752HP:0000752Hyperactivity0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0000752HP:0000752Hyperactivity0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephaly17
HP:0000752HP:0000752Hyperactivity0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephaly17
HP:0000752HP:0000752Hyperactivity0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephaly17
HP:0000752HP:0000752Hyperactivity0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephaly17
HP:0000752HP:0000752Hyperactivity0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephaly172
HP:0000752HP:0000752Hyperactivity0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephaly172
HP:0000752HP:0000752Hyperactivity0FGFR3 CL E G H22613690OMIM:602849Muenke syndrome145
HP:0000752HP:0000752Hyperactivity0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0000752HP:0000752Hyperactivity0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome.332
HP:0000752HP:0000752Hyperactivity0FLG CL E G H23123748ORPHA:461Recessive X-linked ichthyosis63
HP:0000752HP:0000752Hyperactivity0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndrome8
HP:0000752HP:0000752Hyperactivity0FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0000752HP:0000752Hyperactivity0FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndrome.30
HP:0000752HP:0000752Hyperactivity0FMR1 CL E G H23323775ORPHA:908Fragile X syndrome30
HP:0000752HP:0000752Hyperactivity0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040283 - Occasional30
HP:0000752HP:0000752Hyperactivity0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephaly48
HP:0000752HP:0000752Hyperactivity0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephaly48
HP:0000752HP:0000752Hyperactivity0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephaly48
HP:0000752HP:0000752Hyperactivity0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephaly48
HP:0000752HP:0000752Hyperactivity0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndrome184
HP:0000752HP:0000752Hyperactivity0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0000752HP:0000752Hyperactivity0FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0000752HP:0000752Hyperactivity0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000752HP:0000752Hyperactivity0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathy5
HP:0000752HP:0000752Hyperactivity0GABRA1 CL E G H25544075ORPHA:64280Childhood absence epilepsy134
HP:0000752HP:0000752Hyperactivity0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathy4
HP:0000752HP:0000752Hyperactivity0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000752HP:0000752Hyperactivity0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathy44
HP:0000752HP:0000752Hyperactivity0GABRB3 CL E G H25624083ORPHA:64280Childhood absence epilepsy57
HP:0000752HP:0000752Hyperactivity0GABRB3 CL E G H25624083OMIM:617113Epileptic encephalopathy, early infantile, 43.57
HP:0000752HP:0000752Hyperactivity0GABRB3 CL E G H25624083ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent57
HP:0000752HP:0000752Hyperactivity0GABRG2 CL E G H25664087ORPHA:64280Childhood absence epilepsy139
HP:0000752HP:0000752Hyperactivity0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathy139
HP:0000752HP:0000752Hyperactivity0GABRG2 CL E G H25664087ORPHA:1945Rolandic epilepsy139
HP:0000752HP:0000752Hyperactivity0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe disease160
HP:0000752HP:0000752Hyperactivity0GALT CL E G H25924135ORPHA:79239Classic galactosemia351
HP:0000752HP:0000752Hyperactivity0GAMT CL E G H25934136ORPHA:382Guanidinoacetate methyltransferase deficiencyHP:0040283 - Occasional91
HP:0000752HP:0000752Hyperactivity0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephaly2
HP:0000752HP:0000752Hyperactivity0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephaly2
HP:0000752HP:0000752Hyperactivity0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephaly2
HP:0000752HP:0000752Hyperactivity0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephaly2
HP:0000752HP:0000752Hyperactivity0GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndrome87
HP:0000752HP:0000752Hyperactivity0GATAD2B CL E G H5745930778OMIM:615074Mental retardation, autosomal dominant 18HP:0040283 - Occasional33
HP:0000752HP:0000752Hyperactivity0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040282 - Frequent33
HP:0000752HP:0000752Hyperactivity0GCSH CL E G H26534208OMIM:605899Glycine encephalopathy.5
HP:0000752HP:0000752Hyperactivity0GLDC CL E G H27314313OMIM:605899Glycine encephalopathy.166
HP:0000752HP:0000752Hyperactivity0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephaly173
HP:0000752HP:0000752Hyperactivity0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephaly173
HP:0000752HP:0000752Hyperactivity0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephaly173
HP:0000752HP:0000752Hyperactivity0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephaly173
HP:0000752HP:0000752Hyperactivity0GLRA2 CL E G H27424327OMIM:301076INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0000752HP:0000752Hyperactivity0GLUD1 CL E G H27464335ORPHA:35878Hyperinsulinism-hyperammonemia syndrome56
HP:0000752HP:0000752Hyperactivity0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional36
HP:0000752HP:0000752Hyperactivity0GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndrome7
HP:0000752HP:0000752Hyperactivity0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0000752HP:0000752Hyperactivity0GNB5 CL E G H106814401OMIM:617182Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia.7
HP:0000752HP:0000752Hyperactivity0GNE CL E G H1002023657OMIM:269921SIALURIA173
HP:0000752HP:0000752Hyperactivity0GNE CL E G H1002023657ORPHA:3166Sialuria173
HP:0000752HP:0000752Hyperactivity0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID.69
HP:0000752HP:0000752Hyperactivity0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0000752HP:0000752Hyperactivity0GRIA1 CL E G H28904571OMIM:6199273
HP:0000752HP:0000752Hyperactivity0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0000752HP:0000752Hyperactivity0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0000752HP:0000752Hyperactivity0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional108
HP:0000752HP:0000752Hyperactivity0GRIN2A CL E G H29034585OMIM:245570EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD434
HP:0000752HP:0000752Hyperactivity0GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndromeHP:0040283 - Occasional434
HP:0000752HP:0000752Hyperactivity0GRIN2A CL E G H29034585ORPHA:1945Rolandic epilepsy434
HP:0000752HP:0000752Hyperactivity0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathy2
HP:0000752HP:0000752Hyperactivity0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional5
HP:0000752HP:0000752Hyperactivity0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0000752HP:0000752Hyperactivity0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0000752HP:0000752Hyperactivity0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0000752HP:0000752Hyperactivity0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000752HP:0000752Hyperactivity0H4C5 CL E G H83674790OMIM:619950
HP:0000752HP:0000752Hyperactivity0HAL CL E G H30344806ORPHA:2157HistidinemiaHP:0040284 - Very rare73
HP:0000752HP:0000752Hyperactivity0HCN1 CL E G H3489804845OMIM:615871Epileptic encephalopathy, early infantile, 2454
HP:0000752HP:0000752Hyperactivity0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathy54
HP:0000752HP:0000752Hyperactivity0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndrome33
HP:0000752HP:0000752Hyperactivity0HDAC4 CL E G H975914063OMIM:600430Chromosome 2q37 deletion syndrome.33
HP:0000752HP:0000752Hyperactivity0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0000752HP:0000752Hyperactivity0HDC CL E G H30674855OMIM:137580Gilles de la tourette syndrome1
HP:0000752HP:0000752Hyperactivity0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 38.38
HP:0000752HP:0000752Hyperactivity0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000752HP:0000752Hyperactivity0HGSNAT CL E G H13805026527OMIM:252930Mucopolysaccharidosis type IIIC.86
HP:0000752HP:0000752Hyperactivity0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0000752HP:0000752Hyperactivity0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 43.13
HP:0000752HP:0000752Hyperactivity0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutation2
HP:0000752HP:0000752Hyperactivity0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0000752HP:0000752Hyperactivity0HNRNPR CL E G H102365047OMIM:620073
HP:0000752HP:0000752Hyperactivity0HOXA2 CL E G H31995103ORPHA:83463Microtia21
HP:0000752HP:0000752Hyperactivity0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndrome345
HP:0000752HP:0000752Hyperactivity0HTT CL E G H30644851ORPHA:248111Juvenile Huntington diseaseHP:0040282 - Frequent12
HP:0000752HP:0000752Hyperactivity0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0000752HP:0000752Hyperactivity0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0000752HP:0000752Hyperactivity0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0000752HP:0000752Hyperactivity0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040281 - Very frequent91
HP:0000752HP:0000752Hyperactivity0IGF1 CL E G H34795464OMIM:608747Insulin-Like growth factor I deficiency.91
HP:0000752HP:0000752Hyperactivity0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutation9
HP:0000752HP:0000752Hyperactivity0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmenti52
HP:0000752HP:0000752Hyperactivity0IL1RAPL1 CL E G H111415996OMIM:300143Mental retardation, X-linked 21.42
HP:0000752HP:0000752Hyperactivity0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1.111
HP:0000752HP:0000752Hyperactivity0INPP5E CL E G H5662321474ORPHA:75858MORM syndromeHP:0040282 - Frequent111
HP:0000752HP:0000752Hyperactivity0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000752HP:0000752Hyperactivity0IQSEC1 CL E G H992229112OMIM:618687INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0000752HP:0000752Hyperactivity0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0000752HP:0000752Hyperactivity0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0000752HP:0000752Hyperactivity0JRK CL E G H86296199ORPHA:64280Childhood absence epilepsy
HP:0000752HP:0000752Hyperactivity0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0000752HP:0000752Hyperactivity0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome.283
HP:0000752HP:0000752Hyperactivity0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0000752HP:0000752Hyperactivity0KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0000752HP:0000752Hyperactivity0KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000752HP:0000752Hyperactivity0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional145
HP:0000752HP:0000752Hyperactivity0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathy13
HP:0000752HP:0000752Hyperactivity0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathy65
HP:0000752HP:0000752Hyperactivity0KCNC2 CL E G H37476234OMIM:619913
HP:0000752HP:0000752Hyperactivity0KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel typeHP:0040282 - Frequent4
HP:0000752HP:0000752Hyperactivity0KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0000752HP:0000752Hyperactivity0KCNT1 CL E G H5758218865ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy321
HP:0000752HP:0000752Hyperactivity0KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0000752HP:0000752Hyperactivity0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000752HP:0000752Hyperactivity0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0000752HP:0000752Hyperactivity0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0000752HP:0000752Hyperactivity0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation46
HP:0000752HP:0000752Hyperactivity0KIF14 CL E G H992819181OMIM:617914Microcephaly 20, primary, autosomal recessive9
HP:0000752HP:0000752Hyperactivity0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0000752HP:0000752Hyperactivity0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040282 - Frequent91
HP:0000752HP:0000752Hyperactivity0KMT2B CL E G H975715840OMIM:61993411
HP:0000752HP:0000752Hyperactivity0KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0000752HP:0000752Hyperactivity0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0000752HP:0000752Hyperactivity0KRAS CL E G H38456407ORPHA:144Lynch syndrome196
HP:0000752HP:0000752Hyperactivity0KRAS CL E G H38456407OMIM:600268Oculoectodermal syndrome.196
HP:0000752HP:0000752Hyperactivity0LGI3 CL E G H20319018711OMIM:620007
HP:0000752HP:0000752Hyperactivity0LHCGR CL E G H39736585ORPHA:3000Familial male-limited precocious puberty67
HP:0000752HP:0000752Hyperactivity0LIG4 CL E G H39816601ORPHA:235Dubowitz syndrome88
HP:0000752HP:0000752Hyperactivity0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0000752HP:0000752Hyperactivity0LMAN2L CL E G H8156219263OMIM:6178631
HP:0000752HP:0000752Hyperactivity0LNPK CL E G H8085621610OMIM:618090Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum.
HP:0000752HP:0000752Hyperactivity0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0000752HP:0000752Hyperactivity0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000752HP:0000752Hyperactivity0MANBA CL E G H41266831OMIM:248510MANNOSIDOSIS, BETA A, LYSOSOMAL.55
HP:0000752HP:0000752Hyperactivity0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000752HP:0000752Hyperactivity0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndrome2
HP:0000752HP:0000752Hyperactivity0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000752HP:0000752Hyperactivity0MAPK10 CL E G H56026872ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent61
HP:0000752HP:0000752Hyperactivity0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040282 - Frequent252
HP:0000752HP:0000752Hyperactivity0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15q3
HP:0000752HP:0000752Hyperactivity0MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndromeHP:0040281 - Very frequent950
HP:0000752HP:0000752Hyperactivity0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1228
HP:0000752HP:0000752Hyperactivity0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome.228
HP:0000752HP:0000752Hyperactivity0MED12 CL E G H996811957ORPHA:776Lujan-Fryns syndrome228
HP:0000752HP:0000752Hyperactivity0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome228
HP:0000752HP:0000752Hyperactivity0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000752HP:0000752Hyperactivity0MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0000752HP:0000752Hyperactivity0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0000752HP:0000752Hyperactivity0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0000752HP:0000752Hyperactivity0METTL5 CL E G H2908125006OMIM:618665INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000752HP:0000752Hyperactivity0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0000752HP:0000752Hyperactivity0MID2 CL E G H110437096OMIM:300928MENTAL RETARDATION, X-LINKED 101; MRX1017
HP:0000752HP:0000752Hyperactivity0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0000752HP:0000752Hyperactivity0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0000752HP:0000752Hyperactivity0MLH1 CL E G H42927127ORPHA:144Lynch syndrome1819
HP:0000752HP:0000752Hyperactivity0MLH3 CL E G H270307128ORPHA:144Lynch syndrome131
HP:0000752HP:0000752Hyperactivity0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0000752HP:0000752Hyperactivity0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0000752HP:0000752Hyperactivity0MSH2 CL E G H44367325ORPHA:144Lynch syndrome2162
HP:0000752HP:0000752Hyperactivity0MSH6 CL E G H29567329ORPHA:144Lynch syndrome2232
HP:0000752HP:0000752Hyperactivity0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040283 - Occasional68
HP:0000752HP:0000752Hyperactivity0NAA15 CL E G H8015530782OMIM:617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD501
HP:0000752HP:0000752Hyperactivity0NAGLU CL E G H46697632OMIM:252920Mucopolysaccharidosis type IIIB.72
HP:0000752HP:0000752Hyperactivity0NBEA CL E G H269607648OMIM:619157NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE3
HP:0000752HP:0000752Hyperactivity0NBN CL E G H46837652ORPHA:647Nijmegen breakage syndrome706
HP:0000752HP:0000752Hyperactivity0NBN CL E G H46837652OMIM:251260Nijmegen breakage syndrome.706
HP:0000752HP:0000752Hyperactivity0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0000752HP:0000752Hyperactivity0NDP CL E G H46937678ORPHA:649Norrie disease39
HP:0000752HP:0000752Hyperactivity0NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0000752HP:0000752Hyperactivity0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional
HP:0000752HP:0000752Hyperactivity0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0000752HP:0000752Hyperactivity0NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent52
HP:0000752HP:0000752Hyperactivity0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion1952
HP:0000752HP:0000752Hyperactivity0NFIA CL E G H47747784ORPHA:4019861p31p32 microdeletion syndrome12
HP:0000752HP:0000752Hyperactivity0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040283 - Occasional40
HP:0000752HP:0000752Hyperactivity0NIPA1 CL E G H12360617043ORPHA:26118315q11.2 microdeletion syndrome117
HP:0000752HP:0000752Hyperactivity0NIPA2 CL E G H8161417044ORPHA:26118315q11.2 microdeletion syndrome1
HP:0000752HP:0000752Hyperactivity0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0000752HP:0000752Hyperactivity0NKAP CL E G H7957629873OMIM:301039INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000752HP:0000752Hyperactivity0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040284 - Very rare51
HP:0000752HP:0000752Hyperactivity0NLGN1 CL E G H2287114291OMIM:618830Autism, susceptibility to, 204
HP:0000752HP:0000752Hyperactivity0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephaly45
HP:0000752HP:0000752Hyperactivity0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephaly45
HP:0000752HP:0000752Hyperactivity0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephaly45
HP:0000752HP:0000752Hyperactivity0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephaly45
HP:0000752HP:0000752Hyperactivity0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 369
HP:0000752HP:0000752Hyperactivity0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0000752HP:0000752Hyperactivity0NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndrome37
HP:0000752HP:0000752Hyperactivity0NSD1 CL E G H6432414234ORPHA:821Sotos syndrome544
HP:0000752HP:0000752Hyperactivity0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0000752HP:0000752Hyperactivity0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0000752HP:0000752Hyperactivity0NSDHL CL E G H5081413398ORPHA:251383CK syndromeHP:0040282 - Frequent34
HP:0000752HP:0000752Hyperactivity0NSDHL CL E G H5081413398OMIM:300831Ck syndrome.34
HP:0000752HP:0000752Hyperactivity0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndrome84
HP:0000752HP:0000752Hyperactivity0NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000752HP:0000752Hyperactivity0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040283 - Occasional97
HP:0000752HP:0000752Hyperactivity0NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosisHP:0040282 - Frequent97
HP:0000752HP:0000752Hyperactivity0NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathy8
HP:0000752HP:0000752Hyperactivity0NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0000752HP:0000752Hyperactivity0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent121
HP:0000752HP:0000752Hyperactivity0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of Lowe88
HP:0000752HP:0000752Hyperactivity0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0000752HP:0000752Hyperactivity0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome1
HP:0000752HP:0000752Hyperactivity0OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance.55
HP:0000752HP:0000752Hyperactivity0OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndrome55
HP:0000752HP:0000752Hyperactivity0PAH CL E G H50538582ORPHA:79254Classic phenylketonuria641
HP:0000752HP:0000752Hyperactivity0PAH CL E G H50538582ORPHA:2209Maternal phenylketonuriaHP:0040283 - Occasional641
HP:0000752HP:0000752Hyperactivity0PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0000752HP:0000752Hyperactivity0PANK2 CL E G H8002515894ORPHA:216866Classic pantothenate kinase-associated neurodegeneration55
HP:0000752HP:0000752Hyperactivity0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0000752HP:0000752Hyperactivity0PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathy14
HP:0000752HP:0000752Hyperactivity0PCDH19 CL E G H5752614270ORPHA:101039Female restricted epilepsy with intellectual disabilityHP:0040283 - Occasional225
HP:0000752HP:0000752Hyperactivity0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome
HP:0000752HP:0000752Hyperactivity0PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type II531
HP:0000752HP:0000752Hyperactivity0PDCD6IP CL E G H100158766OMIM:620047
HP:0000752HP:0000752Hyperactivity0PDE4D CL E G H51448783OMIM:614613Acrodysostosis 2 with or without hormone resistance.113
HP:0000752HP:0000752Hyperactivity0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040282 - Frequent113
HP:0000752HP:0000752Hyperactivity0PDGFRB CL E G H51598804OMIM:615007Basal ganglia calcification, idiopathic, 428
HP:0000752HP:0000752Hyperactivity0PDZD8 CL E G H11898726974OMIM:620021
HP:0000752HP:0000752Hyperactivity0PHF21A CL E G H5131724156OMIM:618725INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS2
HP:0000752HP:0000752Hyperactivity0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features11
HP:0000752HP:0000752Hyperactivity0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0000752HP:0000752Hyperactivity0PIDD1 CL E G H5536716491OMIM:619827INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0000752HP:0000752Hyperactivity0PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndrome77
HP:0000752HP:0000752Hyperactivity0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional2
HP:0000752HP:0000752Hyperactivity0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0000752HP:0000752Hyperactivity0PIK3CA CL E G H52908975ORPHA:144Lynch syndrome162
HP:0000752HP:0000752Hyperactivity0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040283 - Occasional133
HP:0000752HP:0000752Hyperactivity0PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B.133
HP:0000752HP:0000752Hyperactivity0PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutation3
HP:0000752HP:0000752Hyperactivity0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephaly
HP:0000752HP:0000752Hyperactivity0PMS1 CL E G H53789121ORPHA:144Lynch syndrome56
HP:0000752HP:0000752Hyperactivity0PMS2 CL E G H53959122ORPHA:144Lynch syndrome1121
HP:0000752HP:0000752Hyperactivity0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional244
HP:0000752HP:0000752Hyperactivity0PNKP CL E G H112849154OMIM:613402Microcephaly, seizures, and developmental delay244
HP:0000752HP:0000752Hyperactivity0PNP CL E G H48607892ORPHA:760Purine nucleoside phosphorylase deficiencyHP:0040283 - Occasional52
HP:0000752HP:0000752Hyperactivity0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040282 - Frequent35
HP:0000752HP:0000752Hyperactivity0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0000752HP:0000752Hyperactivity0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0000752HP:0000752Hyperactivity0POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch type2
HP:0000752HP:0000752Hyperactivity0PPM1D CL E G H84939277OMIM:617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold22
HP:0000752HP:0000752Hyperactivity0PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000752HP:0000752Hyperactivity0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000752HP:0000752Hyperactivity0PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional13
HP:0000752HP:0000752Hyperactivity0PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathy2
HP:0000752HP:0000752Hyperactivity0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040282 - Frequent134
HP:0000752HP:0000752Hyperactivity0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0000752HP:0000752Hyperactivity0PRKCG CL E G H55829402OMIM:605361Spinocerebellar ataxia 1483
HP:0000752HP:0000752Hyperactivity0PRNP CL E G H56219449ORPHA:280397Familial Alzheimer-like prion disease69
HP:0000752HP:0000752Hyperactivity0PRODH CL E G H56259453OMIM:239500Hyperprolinemia, type I.13
HP:0000752HP:0000752Hyperactivity0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000752HP:0000752Hyperactivity0PSMB1 CL E G H56899537OMIM:6200382
HP:0000752HP:0000752Hyperactivity0PSMD12 CL E G H57189557OMIM:617516Stankiewicz-Isidor syndrome4
HP:0000752HP:0000752Hyperactivity0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephaly665
HP:0000752HP:0000752Hyperactivity0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephaly665
HP:0000752HP:0000752Hyperactivity0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephaly665
HP:0000752HP:0000752Hyperactivity0PTCH1 CL E G H57279585ORPHA:77301Monosomy 9q22.3HP:0040281 - Very frequent665
HP:0000752HP:0000752Hyperactivity0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephaly665
HP:0000752HP:0000752Hyperactivity0PTCHD1 CL E G H13941126392OMIM:300830Autism, susceptibility to, X-linked 434
HP:0000752HP:0000752Hyperactivity0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0000752HP:0000752Hyperactivity0PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature.
HP:0000752HP:0000752Hyperactivity0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0000752HP:0000752Hyperactivity0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0000752HP:0000752Hyperactivity0RAB39B CL E G H11644216499OMIM:300271Mental retardation, X-linked 72.34
HP:0000752HP:0000752Hyperactivity0RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0000752HP:0000752Hyperactivity0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0000752HP:0000752Hyperactivity0RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndrome150
HP:0000752HP:0000752Hyperactivity0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0000752HP:0000752Hyperactivity0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndrome150
HP:0000752HP:0000752Hyperactivity0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0000752HP:0000752Hyperactivity0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndrome16
HP:0000752HP:0000752Hyperactivity0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0000752HP:0000752Hyperactivity0RIC1 CL E G H5758917686OMIM:618761CATIFA SYNDROME; CATIFA
HP:0000752HP:0000752Hyperactivity0RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type X1
HP:0000752HP:0000752Hyperactivity0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0000752HP:0000752Hyperactivity0RSRC1 CL E G H5131924152OMIM:618402Intellectual developmental disorder, autosomal recessive 702
HP:0000752HP:0000752Hyperactivity0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61.
HP:0000752HP:0000752Hyperactivity0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndrome34
HP:0000752HP:0000752Hyperactivity0SATB2 CL E G H2331421637OMIM:612313Glass syndrome.34
HP:0000752HP:0000752Hyperactivity0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variant34
HP:0000752HP:0000752Hyperactivity0SCAPER CL E G H4985513081OMIM:618195Intellectual developmental disorder and retinitis pigmentosa
HP:0000752HP:0000752Hyperactivity0SCN1A CL E G H632310585ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent1053
HP:0000752HP:0000752Hyperactivity0SCN1A CL E G H632310585ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent1053
HP:0000752HP:0000752Hyperactivity0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional126
HP:0000752HP:0000752Hyperactivity0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional427
HP:0000752HP:0000752Hyperactivity0SCN3A CL E G H632810590OMIM:617935Epilepsy, familial focal, with variable foci 470
HP:0000752HP:0000752Hyperactivity0SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathy70
HP:0000752HP:0000752Hyperactivity0SCN8A CL E G H633410596OMIM:614306Cognitive impairment with or without cerebellar ataxia357
HP:0000752HP:0000752Hyperactivity0SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathy357
HP:0000752HP:0000752Hyperactivity0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0000752HP:0000752Hyperactivity0SEMA3E CL E G H972310727ORPHA:138CHARGE syndrome16
HP:0000752HP:0000752Hyperactivity0SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type X48
HP:0000752HP:0000752Hyperactivity0SETBP1 CL E G H2604015573ORPHA:436151Intellectual disability-expressive aphasia-facial dysmorphism syndromeHP:0040282 - Frequent143
HP:0000752HP:0000752Hyperactivity0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0000752HP:0000752Hyperactivity0SETD2 CL E G H2907218420ORPHA:821Sotos syndrome60
HP:0000752HP:0000752Hyperactivity0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency43
HP:0000752HP:0000752Hyperactivity0SGSH CL E G H644810818OMIM:252900Mucopolysaccharidosis type IIIA.97
HP:0000752HP:0000752Hyperactivity0SH2B1 CL E G H2597030417ORPHA:261222Distal 16p11.2 microdeletion syndrome
HP:0000752HP:0000752Hyperactivity0SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndrome
HP:0000752HP:0000752Hyperactivity0SH3KBP1 CL E G H3001113867OMIM:300310Immunodeficiency 612
HP:0000752HP:0000752Hyperactivity0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040282 - Frequent53
HP:0000752HP:0000752Hyperactivity0SHANK3 CL E G H8535814294OMIM:613950Schizophrenia 15.53
HP:0000752HP:0000752Hyperactivity0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephaly67
HP:0000752HP:0000752Hyperactivity0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephaly67
HP:0000752HP:0000752Hyperactivity0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephaly67
HP:0000752HP:0000752Hyperactivity0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephaly67
HP:0000752HP:0000752Hyperactivity0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000752HP:0000752Hyperactivity0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0000752HP:0000752Hyperactivity0SHROOM4 CL E G H5747729215ORPHA:85288X-linked intellectual disability, Stocco Dos Santos typeHP:0040282 - Frequent42
HP:0000752HP:0000752Hyperactivity0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional11
HP:0000752HP:0000752Hyperactivity0SIM1 CL E G H649210882ORPHA:369873Obesity due to SIM1 deficiency40
HP:0000752HP:0000752Hyperactivity0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000752HP:0000752Hyperactivity0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephaly32
HP:0000752HP:0000752Hyperactivity0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephaly32
HP:0000752HP:0000752Hyperactivity0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0000752HP:0000752Hyperactivity0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephaly32
HP:0000752HP:0000752Hyperactivity0SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathy73
HP:0000752HP:0000752Hyperactivity0SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0000752HP:0000752Hyperactivity0SLC1A4 CL E G H650910942OMIM:616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly.4
HP:0000752HP:0000752Hyperactivity0SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040283 - Occasional4
HP:0000752HP:0000752Hyperactivity0SLC25A13 CL E G H1016510983ORPHA:247585Citrullinemia type IIHP:0040283 - Occasional82
HP:0000752HP:0000752Hyperactivity0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0000752HP:0000752Hyperactivity0SLC2A1 CL E G H651311005ORPHA:64280Childhood absence epilepsy255
HP:0000752HP:0000752Hyperactivity0SLC2A1 CL E G H651311005ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent255
HP:0000752HP:0000752Hyperactivity0SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000752HP:0000752Hyperactivity0SLC6A1 CL E G H652911042ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent29
HP:0000752HP:0000752Hyperactivity0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked122
HP:0000752HP:0000752Hyperactivity0SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiencyHP:0040282 - Frequent122
HP:0000752HP:0000752Hyperactivity0SLC7A6OS CL E G H8413825807OMIM:619191EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0000752HP:0000752Hyperactivity0SLITRK1 CL E G H11479820297OMIM:137580Gilles de la tourette syndrome58
HP:0000752HP:0000752Hyperactivity0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0000752HP:0000752Hyperactivity0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0000752HP:0000752Hyperactivity0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional617
HP:0000752HP:0000752Hyperactivity0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional87
HP:0000752HP:0000752Hyperactivity0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional1
HP:0000752HP:0000752Hyperactivity0SMARCC2 CL E G H660111105OMIM:618362Coffin-Siris syndrome 8.1
HP:0000752HP:0000752Hyperactivity0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional
HP:0000752HP:0000752Hyperactivity0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional47
HP:0000752HP:0000752Hyperactivity0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0000752HP:0000752Hyperactivity0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephaly135
HP:0000752HP:0000752Hyperactivity0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0000752HP:0000752Hyperactivity0SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type B164
HP:0000752HP:0000752Hyperactivity0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0000752HP:0000752Hyperactivity0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0000752HP:0000752Hyperactivity0SNRPN CL E G H663811164OMIM:105830Angelman syndrome.37
HP:0000752HP:0000752Hyperactivity0SNRPN CL E G H663811164ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040283 - Occasional37
HP:0000752HP:0000752Hyperactivity0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0000752HP:0000752Hyperactivity0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional14
HP:0000752HP:0000752Hyperactivity0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional
HP:0000752HP:0000752Hyperactivity0SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiency11
HP:0000752HP:0000752Hyperactivity0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0000752HP:0000752Hyperactivity0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000752HP:0000752Hyperactivity0SPG7 CL E G H668711237ORPHA:99013Spastic paraplegia type 7171
HP:0000752HP:0000752Hyperactivity0SPR CL E G H669711257OMIM:612716Dystonia, dopa-responsive, due to sepiapterin reductase deficiency.28
HP:0000752HP:0000752Hyperactivity0SPRED1 CL E G H16174220249OMIM:611431Legius syndrome136
HP:0000752HP:0000752Hyperactivity0SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0000752HP:0000752Hyperactivity0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000752HP:0000752Hyperactivity0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndrome138
HP:0000752HP:0000752Hyperactivity0SRPX2 CL E G H2728630668ORPHA:1945Rolandic epilepsy50
HP:0000752HP:0000752Hyperactivity0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephaly1
HP:0000752HP:0000752Hyperactivity0STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities1
HP:0000752HP:0000752Hyperactivity0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephaly1
HP:0000752HP:0000752Hyperactivity0STAG2 CL E G H1073511355ORPHA:521258Xq25 microduplication syndromeHP:0040282 - Frequent1
HP:0000752HP:0000752Hyperactivity0STEEP1 CL E G H6393226239OMIM:301013MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000752HP:0000752Hyperactivity0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephaly99
HP:0000752HP:0000752Hyperactivity0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephaly99
HP:0000752HP:0000752Hyperactivity0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephaly99
HP:0000752HP:0000752Hyperactivity0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephaly99
HP:0000752HP:0000752Hyperactivity0STS CL E G H41211425ORPHA:461Recessive X-linked ichthyosis19
HP:0000752HP:0000752Hyperactivity0STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosis19
HP:0000752HP:0000752Hyperactivity0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0000752HP:0000752Hyperactivity0SYNGAP1 CL E G H883111497ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent108
HP:0000752HP:0000752Hyperactivity0SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathy108
HP:0000752HP:0000752Hyperactivity0SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathy9
HP:0000752HP:0000752Hyperactivity0SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathy123
HP:0000752HP:0000752Hyperactivity0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000752HP:0000752Hyperactivity0TAF6 CL E G H687811540OMIM:617126Alazami-Yuan syndrome.5
HP:0000752HP:0000752Hyperactivity0TANC2 CL E G H2611530212OMIM:618906INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0000752HP:0000752Hyperactivity0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000752HP:0000752Hyperactivity0TBC1D2B CL E G H2310229183ORPHA:397973Intellectual disability-obesity-prognathism-eye and skin anomalies syndromeHP:0040283 - Occasional
HP:0000752HP:0000752Hyperactivity0TBL1X CL E G H690711585OMIM:301033Hypothyroidism, congenital, nongoitrous, 81
HP:0000752HP:0000752Hyperactivity0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0000752HP:0000752Hyperactivity0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0000752HP:0000752Hyperactivity0TBX1 CL E G H689911592ORPHA:172722q11.2 duplication syndrome32
HP:0000752HP:0000752Hyperactivity0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0000752HP:0000752Hyperactivity0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities.1
HP:0000752HP:0000752Hyperactivity0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephaly1
HP:0000752HP:0000752Hyperactivity0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephaly1
HP:0000752HP:0000752Hyperactivity0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephaly1
HP:0000752HP:0000752Hyperactivity0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephaly1
HP:0000752HP:0000752Hyperactivity0TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000752HP:0000752Hyperactivity0TGFBR2 CL E G H704811773ORPHA:144Lynch syndrome253
HP:0000752HP:0000752Hyperactivity0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephaly32
HP:0000752HP:0000752Hyperactivity0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephaly32
HP:0000752HP:0000752Hyperactivity0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0000752HP:0000752Hyperactivity0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephaly32
HP:0000752HP:0000752Hyperactivity0THRB CL E G H706811799OMIM:188570Thyroid hormone resistance, generalized, autosomal dominant161
HP:0000752HP:0000752Hyperactivity0THRB CL E G H706811799OMIM:274300Thyroid hormone resistance, generalized, autosomal recessive161
HP:0000752HP:0000752Hyperactivity0TIAM1 CL E G H707411805OMIM:6199082
HP:0000752HP:0000752Hyperactivity0TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndrome15
HP:0000752HP:0000752Hyperactivity0TKT CL E G H708611834OMIM:617044Short stature, developmental delay, and congenital heart defects4
HP:0000752HP:0000752Hyperactivity0TKT CL E G H708611834ORPHA:488618Transketolase deficiency4
HP:0000752HP:0000752Hyperactivity0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 571
HP:0000752HP:0000752Hyperactivity0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0000752HP:0000752Hyperactivity0TMEM147 CL E G H1043030414OMIM:620075
HP:0000752HP:0000752Hyperactivity0TMEM222 CL E G H8406525363OMIM:619470NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0000752HP:0000752Hyperactivity0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0000752HP:0000752Hyperactivity0TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0000752HP:0000752Hyperactivity0TNIK CL E G H2304330765OMIM:617028Mental retardation, autosomal recessive 54.2
HP:0000752HP:0000752Hyperactivity0TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000752HP:0000752Hyperactivity0TNRC6B CL E G H2311229190OMIM:619243GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000752HP:0000752Hyperactivity0TPH2 CL E G H12127820692OMIM:613003ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 731
HP:0000752HP:0000752Hyperactivity0TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000752HP:0000752Hyperactivity0TRAPPC14 CL E G H5526225604OMIM:618351Microcephaly 25, primary, autosomal recessive
HP:0000752HP:0000752Hyperactivity0TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13.158
HP:0000752HP:0000752Hyperactivity0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional1
HP:0000752HP:0000752Hyperactivity0TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0000752HP:0000752Hyperactivity0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0000752HP:0000752Hyperactivity0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome8
HP:0000752HP:0000752Hyperactivity0TRIP12 CL E G H932012306OMIM:617752Mental retardation, autosomal dominant 49.2
HP:0000752HP:0000752Hyperactivity0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0000752HP:0000752Hyperactivity0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0000752HP:0000752Hyperactivity0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0000752HP:0000752Hyperactivity0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0000752HP:0000752Hyperactivity0TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiency9
HP:0000752HP:0000752Hyperactivity0TSHR CL E G H725312373ORPHA:99819Familial gestational hyperthyroidismHP:0040282 - Frequent97
HP:0000752HP:0000752Hyperactivity0TSHR CL E G H725312373ORPHA:424Familial hyperthyroidism due to mutations in TSH receptorHP:0040282 - Frequent97
HP:0000752HP:0000752Hyperactivity0TSHR CL E G H725312373OMIM:609152Hyperthyroidism, nonautoimmune.97
HP:0000752HP:0000752Hyperactivity0TTI2 CL E G H8018526262OMIM:615541Mental retardation, autosomal recessive 39.11
HP:0000752HP:0000752Hyperactivity0TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0000752HP:0000752Hyperactivity0TUBA1A CL E G H784620766ORPHA:467166Tubulinopathy-associated dysgyria106
HP:0000752HP:0000752Hyperactivity0TUBB2B CL E G H34773330829ORPHA:300573Polymicrogyria due to TUBB2B mutation39
HP:0000752HP:0000752Hyperactivity0TUBB2B CL E G H34773330829ORPHA:467166Tubulinopathy-associated dysgyria39
HP:0000752HP:0000752Hyperactivity0TUBB3 CL E G H1038120772ORPHA:467166Tubulinopathy-associated dysgyria64
HP:0000752HP:0000752Hyperactivity0TUBG1 CL E G H728312417ORPHA:26118315q11.2 microdeletion syndrome14
HP:0000752HP:0000752Hyperactivity0UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathy13
HP:0000752HP:0000752Hyperactivity0UBE3A CL E G H733712496ORPHA:23844615q11q13 microduplication syndrome278
HP:0000752HP:0000752Hyperactivity0UBE3A CL E G H733712496OMIM:105830Angelman syndrome.278
HP:0000752HP:0000752Hyperactivity0UBE3A CL E G H733712496ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040283 - Occasional278
HP:0000752HP:0000752Hyperactivity0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent278
HP:0000752HP:0000752Hyperactivity0UBE4A CL E G H935412499OMIM:619639NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS1
HP:0000752HP:0000752Hyperactivity0UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderHP:0040283 - Occasional1
HP:0000752HP:0000752Hyperactivity0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0000752HP:0000752Hyperactivity0UPF3B CL E G H6510920439ORPHA:776Lujan-Fryns syndrome33
HP:0000752HP:0000752Hyperactivity0UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 7.7
HP:0000752HP:0000752Hyperactivity0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndrome2
HP:0000752HP:0000752Hyperactivity0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0000752HP:0000752Hyperactivity0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0000752HP:0000752Hyperactivity0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome20
HP:0000752HP:0000752Hyperactivity0WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion20
HP:0000752HP:0000752Hyperactivity0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation20
HP:0000752HP:0000752Hyperactivity0WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000752HP:0000752Hyperactivity0WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations.224
HP:0000752HP:0000752Hyperactivity0WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathy149
HP:0000752HP:0000752Hyperactivity0YME1L1 CL E G H1073012843OMIM:617302Optic atrophy 11.2
HP:0000752HP:0000752Hyperactivity0YWHAG CL E G H753212852OMIM:617665Epileptic encephalopathy, early infantile, 56
HP:0000752HP:0000752Hyperactivity0YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000752HP:0000752Hyperactivity0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndrome7
HP:0000752HP:0000752Hyperactivity0YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome7
HP:0000752HP:0000752Hyperactivity0ZDHHC9 CL E G H5111418475ORPHA:776Lujan-Fryns syndrome10
HP:0000752HP:0000752Hyperactivity0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephaly34
HP:0000752HP:0000752Hyperactivity0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephaly34
HP:0000752HP:0000752Hyperactivity0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephaly34
HP:0000752HP:0000752Hyperactivity0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephaly34
HP:0000752HP:0000752Hyperactivity0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000752HP:0000752Hyperactivity0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000752HP:0000752Hyperactivity0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0000752HP:0000752Hyperactivity0ZSWIM6 CL E G H5768829316OMIM:617865Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features.5
HP:0000752HP:0007018Attention deficit hyperactivity disorder1AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy.135
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ADGRL1 CL E G H2285920973OMIM:620065
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ADH5 CL E G H128253OMIM:619151AMED SYNDROME, DIGENIC; AMEDS
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040282 - Frequent47
HP:0000752HP:0007018Attention deficit hyperactivity disorder1AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ALKBH8 CL E G H9180125189OMIM:618504Intellectual developmental disorder, autosomal recessive 71.
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040283 - Occasional2
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ANKRD17 CL E G H2605723575OMIM:619504CHOPRA-AMIEL-GORDON SYNDROME; CAGS2
HP:0000752HP:0007018Attention deficit hyperactivity disorder1AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent
HP:0000752HP:0007018Attention deficit hyperactivity disorder1AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional7
HP:0000752HP:0007018Attention deficit hyperactivity disorder1APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040284 - Very rare1
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 625
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ARPC4 CL E G H10093707OMIM:620141
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent1
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ASPM CL E G H25926619048OMIM:608716Microcephaly 5, primary, autosomal recessive.512
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ATP1A2 CL E G H477800OMIM:619605DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98239
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional239
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional150
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ATP6V0A1 CL E G H535865OMIM:6199711
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000752HP:0007018Attention deficit hyperactivity disorder1AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040283 - Occasional61
HP:0000752HP:0007018Attention deficit hyperactivity disorder1BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0000752HP:0007018Attention deficit hyperactivity disorder1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000752HP:0007018Attention deficit hyperactivity disorder1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000752HP:0007018Attention deficit hyperactivity disorder1BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome.17
HP:0000752HP:0007018Attention deficit hyperactivity disorder1BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional5
HP:0000752HP:0007018Attention deficit hyperactivity disorder1BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type XHP:0040282 - Frequent385
HP:0000752HP:0007018Attention deficit hyperactivity disorder1BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0000752HP:0007018Attention deficit hyperactivity disorder1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000752HP:0007018Attention deficit hyperactivity disorder1C12ORF4 CL E G H571021184OMIM:618221Mental retardation, autosomal recessive 662
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CABP4 CL E G H570101386ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare94
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional449
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CACNA1C CL E G H7751390OMIM:620029572
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CACNA1H CL E G H89121395ORPHA:64280Childhood absence epilepsyHP:0040282 - Frequent75
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional59
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CDC42BPB CL E G H95781738OMIM:619841
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CDH2 CL E G H10001759OMIM:619957
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CDK8 CL E G H10241779OMIM:618748INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional114
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent200
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent227
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CHD5 CL E G H2603816816OMIM:619873
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CHRNA2 CL E G H11351956ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare188
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CHRNA4 CL E G H11371958ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare225
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndromeHP:0040283 - Occasional52
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CHRNB2 CL E G H11411962ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare88
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 45.39
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 56.1
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CNKSR2 CL E G H2286619701OMIM:301008MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG18
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional