Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000752	HP:0000752	Hyperactivity	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0000752	HP:0000752	Hyperactivity	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional	15
HP:0000752	HP:0000752	Hyperactivity	0	AASS CL E G H	10157	17366	OMIM:238700	Hyperlysinemia, type I	.	15
HP:0000752	HP:0000752	Hyperactivity	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0000752	HP:0000752	Hyperactivity	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional	135
HP:0000752	HP:0000752	Hyperactivity	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		2
HP:0000752	HP:0000752	Hyperactivity	0	ACY1 CL E G H	95	177	OMIM:609924	Aminoacylase 1 deficiency	.	13
HP:0000752	HP:0000752	Hyperactivity	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0000752	HP:0000752	Hyperactivity	0	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36	HP:0040284 - Very rare	9
HP:0000752	HP:0000752	Hyperactivity	0	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0000752	HP:0000752	Hyperactivity	0	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0000752	HP:0000752	Hyperactivity	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0000752	HP:0000752	Hyperactivity	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0000752	HP:0000752	Hyperactivity	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.	118
HP:0000752	HP:0000752	Hyperactivity	0	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability	HP:0040282 - Frequent	59
HP:0000752	HP:0000752	Hyperactivity	0	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe	.	59
HP:0000752	HP:0000752	Hyperactivity	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000752	HP:0000752	Hyperactivity	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency	.	108
HP:0000752	HP:0000752	Hyperactivity	0	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF		12
HP:0000752	HP:0000752	Hyperactivity	0	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71	.
HP:0000752	HP:0000752	Hyperactivity	0	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy	.	56
HP:0000752	HP:0000752	Hyperactivity	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1		2
HP:0000752	HP:0000752	Hyperactivity	0	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome	HP:0040282 - Frequent	176
HP:0000752	HP:0000752	Hyperactivity	0	ANK3 CL E G H	288	494	OMIM:615493	Mental retardation, autosomal recessive 37	.	176
HP:0000752	HP:0000752	Hyperactivity	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0000752	HP:0000752	Hyperactivity	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0000752	HP:0000752	Hyperactivity	0	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000752	HP:0000752	Hyperactivity	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent
HP:0000752	HP:0000752	Hyperactivity	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		7
HP:0000752	HP:0000752	Hyperactivity	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0000752	HP:0000752	Hyperactivity	0	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3	.	1
HP:0000752	HP:0000752	Hyperactivity	0	ARG1 CL E G H	383	663	OMIM:207800	Argininemia	.	31
HP:0000752	HP:0000752	Hyperactivity	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	88
HP:0000752	HP:0000752	Hyperactivity	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0000752	HP:0000752	Hyperactivity	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	219
HP:0000752	HP:0000752	Hyperactivity	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	25
HP:0000752	HP:0000752	Hyperactivity	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0000752	HP:0000752	Hyperactivity	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0000752	HP:0000752	Hyperactivity	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		3
HP:0000752	HP:0000752	Hyperactivity	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0000752	HP:0000752	Hyperactivity	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0000752	HP:0000752	Hyperactivity	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52	.	1
HP:0000752	HP:0000752	Hyperactivity	0	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive		512
HP:0000752	HP:0000752	Hyperactivity	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional	4
HP:0000752	HP:0000752	Hyperactivity	0	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2	.	4
HP:0000752	HP:0000752	Hyperactivity	0	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0000752	HP:0000752	Hyperactivity	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		239
HP:0000752	HP:0000752	Hyperactivity	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		150
HP:0000752	HP:0000752	Hyperactivity	0	ATP6V0A1 CL E G H	535	865	OMIM:619970			1
HP:0000752	HP:0000752	Hyperactivity	0	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0000752	HP:0000752	Hyperactivity	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		3
HP:0000752	HP:0000752	Hyperactivity	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0000752	HP:0000752	Hyperactivity	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0000752	HP:0000752	Hyperactivity	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional	61
HP:0000752	HP:0000752	Hyperactivity	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0000752	HP:0000752	Hyperactivity	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0000752	HP:0000752	Hyperactivity	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000752	HP:0000752	Hyperactivity	0	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	HP:0040283 - Occasional	8
HP:0000752	HP:0000752	Hyperactivity	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000752	HP:0000752	Hyperactivity	0	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome		17
HP:0000752	HP:0000752	Hyperactivity	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0000752	HP:0000752	Hyperactivity	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X		385
HP:0000752	HP:0000752	Hyperactivity	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000752	HP:0000752	Hyperactivity	0	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy	.	105
HP:0000752	HP:0000752	Hyperactivity	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040283 - Occasional	105
HP:0000752	HP:0000752	Hyperactivity	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000752	HP:0000752	Hyperactivity	0	C12ORF4 CL E G H	57102	1184	OMIM:618221	Mental retardation, autosomal recessive 66		2
HP:0000752	HP:0000752	Hyperactivity	0	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		94
HP:0000752	HP:0000752	Hyperactivity	0	CACNA1A CL E G H	773	1388	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent	449
HP:0000752	HP:0000752	Hyperactivity	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		449
HP:0000752	HP:0000752	Hyperactivity	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		5
HP:0000752	HP:0000752	Hyperactivity	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0000752	HP:0000752	Hyperactivity	0	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy		75
HP:0000752	HP:0000752	Hyperactivity	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		59
HP:0000752	HP:0000752	Hyperactivity	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.	34
HP:0000752	HP:0000752	Hyperactivity	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000752	HP:0000752	Hyperactivity	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	118
HP:0000752	HP:0000752	Hyperactivity	0	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3	.	57
HP:0000752	HP:0000752	Hyperactivity	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0000752	HP:0000752	Hyperactivity	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000752	HP:0000752	Hyperactivity	0	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0000752	HP:0000752	Hyperactivity	0	CDH2 CL E G H	1000	1759	OMIM:619957
HP:0000752	HP:0000752	Hyperactivity	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000752	HP:0000752	Hyperactivity	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0000752	HP:0000752	Hyperactivity	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000752	HP:0000752	Hyperactivity	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	405
HP:0000752	HP:0000752	Hyperactivity	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation		114
HP:0000752	HP:0000752	Hyperactivity	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly		200
HP:0000752	HP:0000752	Hyperactivity	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly		200
HP:0000752	HP:0000752	Hyperactivity	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		200
HP:0000752	HP:0000752	Hyperactivity	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly		200
HP:0000752	HP:0000752	Hyperactivity	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0000752	HP:0000752	Hyperactivity	0	CHD2 CL E G H	1106	1917	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent	227
HP:0000752	HP:0000752	Hyperactivity	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	227
HP:0000752	HP:0000752	Hyperactivity	0	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000752	HP:0000752	Hyperactivity	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0000752	HP:0000752	Hyperactivity	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0000752	HP:0000752	Hyperactivity	0	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		188
HP:0000752	HP:0000752	Hyperactivity	0	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		225
HP:0000752	HP:0000752	Hyperactivity	0	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome		52
HP:0000752	HP:0000752	Hyperactivity	0	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		88
HP:0000752	HP:0000752	Hyperactivity	0	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45	.	39
HP:0000752	HP:0000752	Hyperactivity	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0000752	HP:0000752	Hyperactivity	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional	45
HP:0000752	HP:0000752	Hyperactivity	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000752	HP:0000752	Hyperactivity	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040282 - Frequent	141
HP:0000752	HP:0000752	Hyperactivity	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0000752	HP:0000752	Hyperactivity	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		1
HP:0000752	HP:0000752	Hyperactivity	0	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG		18
HP:0000752	HP:0000752	Hyperactivity	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		18
HP:0000752	HP:0000752	Hyperactivity	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0000752	HP:0000752	Hyperactivity	0	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	.	518
HP:0000752	HP:0000752	Hyperactivity	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0000752	HP:0000752	Hyperactivity	0	CORO1A CL E G H	11151	2252	OMIM:615401	Immunodeficiency 8	.	7
HP:0000752	HP:0000752	Hyperactivity	0	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2		19
HP:0000752	HP:0000752	Hyperactivity	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000752	HP:0000752	Hyperactivity	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional	291
HP:0000752	HP:0000752	Hyperactivity	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0000752	HP:0000752	Hyperactivity	0	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		1
HP:0000752	HP:0000752	Hyperactivity	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0000752	HP:0000752	Hyperactivity	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000752	HP:0000752	Hyperactivity	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome		12
HP:0000752	HP:0000752	Hyperactivity	0	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0000752	HP:0000752	Hyperactivity	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	.	38
HP:0000752	HP:0000752	Hyperactivity	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040281 - Very frequent	38
HP:0000752	HP:0000752	Hyperactivity	0	CUX2 CL E G H	23316	19347	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent
HP:0000752	HP:0000752	Hyperactivity	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		1
HP:0000752	HP:0000752	Hyperactivity	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0000752	HP:0000752	Hyperactivity	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0000752	HP:0000752	Hyperactivity	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome		8
HP:0000752	HP:0000752	Hyperactivity	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000752	HP:0000752	Hyperactivity	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0000752	HP:0000752	Hyperactivity	0	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome	HP:0040282 - Frequent	57
HP:0000752	HP:0000752	Hyperactivity	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome		33
HP:0000752	HP:0000752	Hyperactivity	0	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		172
HP:0000752	HP:0000752	Hyperactivity	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0000752	HP:0000752	Hyperactivity	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000752	HP:0000752	Hyperactivity	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		47
HP:0000752	HP:0000752	Hyperactivity	0	DHTKD1 CL E G H	55526	23537	OMIM:204750	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD		12
HP:0000752	HP:0000752	Hyperactivity	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly		22
HP:0000752	HP:0000752	Hyperactivity	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly		22
HP:0000752	HP:0000752	Hyperactivity	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		22
HP:0000752	HP:0000752	Hyperactivity	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly		22
HP:0000752	HP:0000752	Hyperactivity	0	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90		30
HP:0000752	HP:0000752	Hyperactivity	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly		3
HP:0000752	HP:0000752	Hyperactivity	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly		3
HP:0000752	HP:0000752	Hyperactivity	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		3
HP:0000752	HP:0000752	Hyperactivity	0	DLL1 CL E G H	28514	2908	OMIM:618709	NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS		3
HP:0000752	HP:0000752	Hyperactivity	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly		3
HP:0000752	HP:0000752	Hyperactivity	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0000752	HP:0000752	Hyperactivity	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0000752	HP:0000752	Hyperactivity	0	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient		3
HP:0000752	HP:0000752	Hyperactivity	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	HP:0040284 - Very rare	5
HP:0000752	HP:0000752	Hyperactivity	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000752	HP:0000752	Hyperactivity	0	DNM1 CL E G H	1759	2972	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent	72
HP:0000752	HP:0000752	Hyperactivity	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		72
HP:0000752	HP:0000752	Hyperactivity	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0000752	HP:0000752	Hyperactivity	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0000752	HP:0000752	Hyperactivity	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0000752	HP:0000752	Hyperactivity	0	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33		18
HP:0000752	HP:0000752	Hyperactivity	0	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency	.	144
HP:0000752	HP:0000752	Hyperactivity	0	DRD4 CL E G H	1815	3025	OMIM:143465	Attention deficit-hyperactivity disorder	.	4
HP:0000752	HP:0000752	Hyperactivity	0	DRD5 CL E G H	1816	3026	OMIM:143465	Attention deficit-hyperactivity disorder	.	3
HP:0000752	HP:0000752	Hyperactivity	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional	65
HP:0000752	HP:0000752	Hyperactivity	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies		1
HP:0000752	HP:0000752	Hyperactivity	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0000752	HP:0000752	Hyperactivity	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0000752	HP:0000752	Hyperactivity	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.	51
HP:0000752	HP:0000752	Hyperactivity	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040283 - Occasional	51
HP:0000752	HP:0000752	Hyperactivity	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		60
HP:0000752	HP:0000752	Hyperactivity	0	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0000752	HP:0000752	Hyperactivity	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000752	HP:0000752	Hyperactivity	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0000752	HP:0000752	Hyperactivity	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000752	HP:0000752	Hyperactivity	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000752	HP:0000752	Hyperactivity	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.	250
HP:0000752	HP:0000752	Hyperactivity	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0000752	HP:0000752	Hyperactivity	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome		170
HP:0000752	HP:0000752	Hyperactivity	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome		15
HP:0000752	HP:0000752	Hyperactivity	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0000752	HP:0000752	Hyperactivity	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0000752	HP:0000752	Hyperactivity	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.	7
HP:0000752	HP:0000752	Hyperactivity	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0000752	HP:0000752	Hyperactivity	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0000752	HP:0000752	Hyperactivity	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		3
HP:0000752	HP:0000752	Hyperactivity	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		1
HP:0000752	HP:0000752	Hyperactivity	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly		17
HP:0000752	HP:0000752	Hyperactivity	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly		17
HP:0000752	HP:0000752	Hyperactivity	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		17
HP:0000752	HP:0000752	Hyperactivity	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly		17
HP:0000752	HP:0000752	Hyperactivity	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly		172
HP:0000752	HP:0000752	Hyperactivity	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly		172
HP:0000752	HP:0000752	Hyperactivity	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome		145
HP:0000752	HP:0000752	Hyperactivity	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000752	HP:0000752	Hyperactivity	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome	.	332
HP:0000752	HP:0000752	Hyperactivity	0	FLG CL E G H	2312	3748	ORPHA:461	Recessive X-linked ichthyosis		63
HP:0000752	HP:0000752	Hyperactivity	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0000752	HP:0000752	Hyperactivity	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0000752	HP:0000752	Hyperactivity	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome	.	30
HP:0000752	HP:0000752	Hyperactivity	0	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome		30
HP:0000752	HP:0000752	Hyperactivity	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040283 - Occasional	30
HP:0000752	HP:0000752	Hyperactivity	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly		48
HP:0000752	HP:0000752	Hyperactivity	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly		48
HP:0000752	HP:0000752	Hyperactivity	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		48
HP:0000752	HP:0000752	Hyperactivity	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly		48
HP:0000752	HP:0000752	Hyperactivity	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome		184
HP:0000752	HP:0000752	Hyperactivity	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0000752	HP:0000752	Hyperactivity	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0000752	HP:0000752	Hyperactivity	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0000752	HP:0000752	Hyperactivity	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		5
HP:0000752	HP:0000752	Hyperactivity	0	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy		134
HP:0000752	HP:0000752	Hyperactivity	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		4
HP:0000752	HP:0000752	Hyperactivity	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0000752	HP:0000752	Hyperactivity	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		44
HP:0000752	HP:0000752	Hyperactivity	0	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy		57
HP:0000752	HP:0000752	Hyperactivity	0	GABRB3 CL E G H	2562	4083	OMIM:617113	Epileptic encephalopathy, early infantile, 43	.	57
HP:0000752	HP:0000752	Hyperactivity	0	GABRB3 CL E G H	2562	4083	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent	57
HP:0000752	HP:0000752	Hyperactivity	0	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy		139
HP:0000752	HP:0000752	Hyperactivity	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		139
HP:0000752	HP:0000752	Hyperactivity	0	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy		139
HP:0000752	HP:0000752	Hyperactivity	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease		160
HP:0000752	HP:0000752	Hyperactivity	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia		351
HP:0000752	HP:0000752	Hyperactivity	0	GAMT CL E G H	2593	4136	ORPHA:382	Guanidinoacetate methyltransferase deficiency	HP:0040283 - Occasional	91
HP:0000752	HP:0000752	Hyperactivity	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly		2
HP:0000752	HP:0000752	Hyperactivity	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly		2
HP:0000752	HP:0000752	Hyperactivity	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		2
HP:0000752	HP:0000752	Hyperactivity	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly		2
HP:0000752	HP:0000752	Hyperactivity	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome		87
HP:0000752	HP:0000752	Hyperactivity	0	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18	HP:0040283 - Occasional	33
HP:0000752	HP:0000752	Hyperactivity	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040282 - Frequent	33
HP:0000752	HP:0000752	Hyperactivity	0	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy	.	5
HP:0000752	HP:0000752	Hyperactivity	0	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy	.	166
HP:0000752	HP:0000752	Hyperactivity	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly		173
HP:0000752	HP:0000752	Hyperactivity	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly		173
HP:0000752	HP:0000752	Hyperactivity	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		173
HP:0000752	HP:0000752	Hyperactivity	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly		173
HP:0000752	HP:0000752	Hyperactivity	0	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0000752	HP:0000752	Hyperactivity	0	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome		56
HP:0000752	HP:0000752	Hyperactivity	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	36
HP:0000752	HP:0000752	Hyperactivity	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome		7
HP:0000752	HP:0000752	Hyperactivity	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0000752	HP:0000752	Hyperactivity	0	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia	.	7
HP:0000752	HP:0000752	Hyperactivity	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0000752	HP:0000752	Hyperactivity	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria		173
HP:0000752	HP:0000752	Hyperactivity	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0000752	HP:0000752	Hyperactivity	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0000752	HP:0000752	Hyperactivity	0	GRIA1 CL E G H	2890	4571	OMIM:619927			3
HP:0000752	HP:0000752	Hyperactivity	0	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0000752	HP:0000752	Hyperactivity	0	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS		32
HP:0000752	HP:0000752	Hyperactivity	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0000752	HP:0000752	Hyperactivity	0	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD		434
HP:0000752	HP:0000752	Hyperactivity	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040283 - Occasional	434
HP:0000752	HP:0000752	Hyperactivity	0	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy		434
HP:0000752	HP:0000752	Hyperactivity	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		2
HP:0000752	HP:0000752	Hyperactivity	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0000752	HP:0000752	Hyperactivity	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0000752	HP:0000752	Hyperactivity	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0000752	HP:0000752	Hyperactivity	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0000752	HP:0000752	Hyperactivity	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000752	HP:0000752	Hyperactivity	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000752	HP:0000752	Hyperactivity	0	HAL CL E G H	3034	4806	ORPHA:2157	Histidinemia	HP:0040284 - Very rare	73
HP:0000752	HP:0000752	Hyperactivity	0	HCN1 CL E G H	348980	4845	OMIM:615871	Epileptic encephalopathy, early infantile, 24		54
HP:0000752	HP:0000752	Hyperactivity	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		54
HP:0000752	HP:0000752	Hyperactivity	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome		33
HP:0000752	HP:0000752	Hyperactivity	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.	33
HP:0000752	HP:0000752	Hyperactivity	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0000752	HP:0000752	Hyperactivity	0	HDC CL E G H	3067	4855	OMIM:137580	Gilles de la tourette syndrome		1
HP:0000752	HP:0000752	Hyperactivity	0	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38	.	38
HP:0000752	HP:0000752	Hyperactivity	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0000752	HP:0000752	Hyperactivity	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.	86
HP:0000752	HP:0000752	Hyperactivity	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0000752	HP:0000752	Hyperactivity	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43	.	13
HP:0000752	HP:0000752	Hyperactivity	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation		2
HP:0000752	HP:0000752	Hyperactivity	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0000752	HP:0000752	Hyperactivity	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0000752	HP:0000752	Hyperactivity	0	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia		21
HP:0000752	HP:0000752	Hyperactivity	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0000752	HP:0000752	Hyperactivity	0	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease	HP:0040282 - Frequent	12
HP:0000752	HP:0000752	Hyperactivity	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0000752	HP:0000752	Hyperactivity	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	23
HP:0000752	HP:0000752	Hyperactivity	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0000752	HP:0000752	Hyperactivity	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent	91
HP:0000752	HP:0000752	Hyperactivity	0	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency	.	91
HP:0000752	HP:0000752	Hyperactivity	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation		9
HP:0000752	HP:0000752	Hyperactivity	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0000752	HP:0000752	Hyperactivity	0	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21	.	42
HP:0000752	HP:0000752	Hyperactivity	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0000752	HP:0000752	Hyperactivity	0	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome	HP:0040282 - Frequent	111
HP:0000752	HP:0000752	Hyperactivity	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000752	HP:0000752	Hyperactivity	0	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0000752	HP:0000752	Hyperactivity	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome		119
HP:0000752	HP:0000752	Hyperactivity	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0000752	HP:0000752	Hyperactivity	0	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy
HP:0000752	HP:0000752	Hyperactivity	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0000752	HP:0000752	Hyperactivity	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome	.	283
HP:0000752	HP:0000752	Hyperactivity	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0000752	HP:0000752	Hyperactivity	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0000752	HP:0000752	Hyperactivity	0	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000752	HP:0000752	Hyperactivity	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	145
HP:0000752	HP:0000752	Hyperactivity	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		13
HP:0000752	HP:0000752	Hyperactivity	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		65
HP:0000752	HP:0000752	Hyperactivity	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0000752	HP:0000752	Hyperactivity	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent	4
HP:0000752	HP:0000752	Hyperactivity	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0000752	HP:0000752	Hyperactivity	0	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		321
HP:0000752	HP:0000752	Hyperactivity	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000752	HP:0000752	Hyperactivity	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000752	HP:0000752	Hyperactivity	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0000752	HP:0000752	Hyperactivity	0	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.	9
HP:0000752	HP:0000752	Hyperactivity	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation		46
HP:0000752	HP:0000752	Hyperactivity	0	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive		9
HP:0000752	HP:0000752	Hyperactivity	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0000752	HP:0000752	Hyperactivity	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040282 - Frequent	91
HP:0000752	HP:0000752	Hyperactivity	0	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0000752	HP:0000752	Hyperactivity	0	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28		11
HP:0000752	HP:0000752	Hyperactivity	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51		2
HP:0000752	HP:0000752	Hyperactivity	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome		196
HP:0000752	HP:0000752	Hyperactivity	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0000752	HP:0000752	Hyperactivity	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0000752	HP:0000752	Hyperactivity	0	LHCGR CL E G H	3973	6585	ORPHA:3000	Familial male-limited precocious puberty		67
HP:0000752	HP:0000752	Hyperactivity	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0000752	HP:0000752	Hyperactivity	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000752	HP:0000752	Hyperactivity	0	LMAN2L CL E G H	81562	19263	OMIM:617863			1
HP:0000752	HP:0000752	Hyperactivity	0	LNPK CL E G H	80856	21610	OMIM:618090	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	.
HP:0000752	HP:0000752	Hyperactivity	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0000752	HP:0000752	Hyperactivity	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0000752	HP:0000752	Hyperactivity	0	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL	.	55
HP:0000752	HP:0000752	Hyperactivity	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000752	HP:0000752	Hyperactivity	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0000752	HP:0000752	Hyperactivity	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0000752	HP:0000752	Hyperactivity	0	MAPK10 CL E G H	5602	6872	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent	61
HP:0000752	HP:0000752	Hyperactivity	0	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040282 - Frequent	252
HP:0000752	HP:0000752	Hyperactivity	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0000752	HP:0000752	Hyperactivity	0	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040281 - Very frequent	950
HP:0000752	HP:0000752	Hyperactivity	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0000752	HP:0000752	Hyperactivity	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome		228
HP:0000752	HP:0000752	Hyperactivity	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.	228
HP:0000752	HP:0000752	Hyperactivity	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0000752	HP:0000752	Hyperactivity	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000752	HP:0000752	Hyperactivity	0	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61		4
HP:0000752	HP:0000752	Hyperactivity	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0000752	HP:0000752	Hyperactivity	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0000752	HP:0000752	Hyperactivity	0	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000752	HP:0000752	Hyperactivity	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0000752	HP:0000752	Hyperactivity	0	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101		7
HP:0000752	HP:0000752	Hyperactivity	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0000752	HP:0000752	Hyperactivity	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000752	HP:0000752	Hyperactivity	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome		1819
HP:0000752	HP:0000752	Hyperactivity	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome		131
HP:0000752	HP:0000752	Hyperactivity	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0000752	HP:0000752	Hyperactivity	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000752	HP:0000752	Hyperactivity	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome		2162
HP:0000752	HP:0000752	Hyperactivity	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome		2232
HP:0000752	HP:0000752	Hyperactivity	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040283 - Occasional	68
HP:0000752	HP:0000752	Hyperactivity	0	NAA15 CL E G H	80155	30782	OMIM:617787	MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50		1
HP:0000752	HP:0000752	Hyperactivity	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.	72
HP:0000752	HP:0000752	Hyperactivity	0	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE		3
HP:0000752	HP:0000752	Hyperactivity	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome		706
HP:0000752	HP:0000752	Hyperactivity	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0000752	HP:0000752	Hyperactivity	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0000752	HP:0000752	Hyperactivity	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease		39
HP:0000752	HP:0000752	Hyperactivity	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		1
HP:0000752	HP:0000752	Hyperactivity	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional
HP:0000752	HP:0000752	Hyperactivity	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0000752	HP:0000752	Hyperactivity	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	52
HP:0000752	HP:0000752	Hyperactivity	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		1952
HP:0000752	HP:0000752	Hyperactivity	0	NFIA CL E G H	4774	7784	ORPHA:401986	1p31p32 microdeletion syndrome		12
HP:0000752	HP:0000752	Hyperactivity	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional	40
HP:0000752	HP:0000752	Hyperactivity	0	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome		117
HP:0000752	HP:0000752	Hyperactivity	0	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome		1
HP:0000752	HP:0000752	Hyperactivity	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0000752	HP:0000752	Hyperactivity	0	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000752	HP:0000752	Hyperactivity	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare	51
HP:0000752	HP:0000752	Hyperactivity	0	NLGN1 CL E G H	22871	14291	OMIM:618830	Autism, susceptibility to, 20		4
HP:0000752	HP:0000752	Hyperactivity	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly		45
HP:0000752	HP:0000752	Hyperactivity	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly		45
HP:0000752	HP:0000752	Hyperactivity	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		45
HP:0000752	HP:0000752	Hyperactivity	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly		45
HP:0000752	HP:0000752	Hyperactivity	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36		9
HP:0000752	HP:0000752	Hyperactivity	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0000752	HP:0000752	Hyperactivity	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome		37
HP:0000752	HP:0000752	Hyperactivity	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0000752	HP:0000752	Hyperactivity	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0000752	HP:0000752	Hyperactivity	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0000752	HP:0000752	Hyperactivity	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.	34
HP:0000752	HP:0000752	Hyperactivity	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040282 - Frequent	34
HP:0000752	HP:0000752	Hyperactivity	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0000752	HP:0000752	Hyperactivity	0	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000752	HP:0000752	Hyperactivity	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040283 - Occasional	97
HP:0000752	HP:0000752	Hyperactivity	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	HP:0040282 - Frequent	97
HP:0000752	HP:0000752	Hyperactivity	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		8
HP:0000752	HP:0000752	Hyperactivity	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		1
HP:0000752	HP:0000752	Hyperactivity	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent	121
HP:0000752	HP:0000752	Hyperactivity	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0000752	HP:0000752	Hyperactivity	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0000752	HP:0000752	Hyperactivity	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome		1
HP:0000752	HP:0000752	Hyperactivity	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	.	55
HP:0000752	HP:0000752	Hyperactivity	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome		55
HP:0000752	HP:0000752	Hyperactivity	0	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria		641
HP:0000752	HP:0000752	Hyperactivity	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040283 - Occasional	641
HP:0000752	HP:0000752	Hyperactivity	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0000752	HP:0000752	Hyperactivity	0	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration		55
HP:0000752	HP:0000752	Hyperactivity	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0000752	HP:0000752	Hyperactivity	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		14
HP:0000752	HP:0000752	Hyperactivity	0	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability	HP:0040283 - Occasional	225
HP:0000752	HP:0000752	Hyperactivity	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0000752	HP:0000752	Hyperactivity	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II		531
HP:0000752	HP:0000752	Hyperactivity	0	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0000752	HP:0000752	Hyperactivity	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.	113
HP:0000752	HP:0000752	Hyperactivity	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040282 - Frequent	113
HP:0000752	HP:0000752	Hyperactivity	0	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4		28
HP:0000752	HP:0000752	Hyperactivity	0	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0000752	HP:0000752	Hyperactivity	0	PHF21A CL E G H	51317	24156	OMIM:618725	INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS		2
HP:0000752	HP:0000752	Hyperactivity	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features		11
HP:0000752	HP:0000752	Hyperactivity	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0000752	HP:0000752	Hyperactivity	0	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0000752	HP:0000752	Hyperactivity	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0000752	HP:0000752	Hyperactivity	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0000752	HP:0000752	Hyperactivity	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0000752	HP:0000752	Hyperactivity	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome		162
HP:0000752	HP:0000752	Hyperactivity	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040283 - Occasional	133
HP:0000752	HP:0000752	Hyperactivity	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.	133
HP:0000752	HP:0000752	Hyperactivity	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation		3
HP:0000752	HP:0000752	Hyperactivity	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0000752	HP:0000752	Hyperactivity	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome		56
HP:0000752	HP:0000752	Hyperactivity	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome		1121
HP:0000752	HP:0000752	Hyperactivity	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	244
HP:0000752	HP:0000752	Hyperactivity	0	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay		244
HP:0000752	HP:0000752	Hyperactivity	0	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040283 - Occasional	52
HP:0000752	HP:0000752	Hyperactivity	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040282 - Frequent	35
HP:0000752	HP:0000752	Hyperactivity	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0000752	HP:0000752	Hyperactivity	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0000752	HP:0000752	Hyperactivity	0	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type		2
HP:0000752	HP:0000752	Hyperactivity	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold		22
HP:0000752	HP:0000752	Hyperactivity	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000752	HP:0000752	Hyperactivity	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000752	HP:0000752	Hyperactivity	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	13
HP:0000752	HP:0000752	Hyperactivity	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		2
HP:0000752	HP:0000752	Hyperactivity	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040282 - Frequent	134
HP:0000752	HP:0000752	Hyperactivity	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0000752	HP:0000752	Hyperactivity	0	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14		83
HP:0000752	HP:0000752	Hyperactivity	0	PRNP CL E G H	5621	9449	ORPHA:280397	Familial Alzheimer-like prion disease		69
HP:0000752	HP:0000752	Hyperactivity	0	PRODH CL E G H	5625	9453	OMIM:239500	Hyperprolinemia, type I	.	13
HP:0000752	HP:0000752	Hyperactivity	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000752	HP:0000752	Hyperactivity	0	PSMB1 CL E G H	5689	9537	OMIM:620038			2
HP:0000752	HP:0000752	Hyperactivity	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0000752	HP:0000752	Hyperactivity	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly		665
HP:0000752	HP:0000752	Hyperactivity	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly		665
HP:0000752	HP:0000752	Hyperactivity	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		665
HP:0000752	HP:0000752	Hyperactivity	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent	665
HP:0000752	HP:0000752	Hyperactivity	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly		665
HP:0000752	HP:0000752	Hyperactivity	0	PTCHD1 CL E G H	139411	26392	OMIM:300830	Autism, susceptibility to, X-linked 4		34
HP:0000752	HP:0000752	Hyperactivity	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0000752	HP:0000752	Hyperactivity	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	.
HP:0000752	HP:0000752	Hyperactivity	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000752	HP:0000752	Hyperactivity	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000752	HP:0000752	Hyperactivity	0	RAB39B CL E G H	116442	16499	OMIM:300271	Mental retardation, X-linked 72	.	34
HP:0000752	HP:0000752	Hyperactivity	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0000752	HP:0000752	Hyperactivity	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0000752	HP:0000752	Hyperactivity	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome		150
HP:0000752	HP:0000752	Hyperactivity	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0000752	HP:0000752	Hyperactivity	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome		150
HP:0000752	HP:0000752	Hyperactivity	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0000752	HP:0000752	Hyperactivity	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome		16
HP:0000752	HP:0000752	Hyperactivity	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000752	HP:0000752	Hyperactivity	0	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000752	HP:0000752	Hyperactivity	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X		1
HP:0000752	HP:0000752	Hyperactivity	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000752	HP:0000752	Hyperactivity	0	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70		2
HP:0000752	HP:0000752	Hyperactivity	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0000752	HP:0000752	Hyperactivity	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome		34
HP:0000752	HP:0000752	Hyperactivity	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.	34
HP:0000752	HP:0000752	Hyperactivity	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant		34
HP:0000752	HP:0000752	Hyperactivity	0	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa
HP:0000752	HP:0000752	Hyperactivity	0	SCN1A CL E G H	6323	10585	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent	1053
HP:0000752	HP:0000752	Hyperactivity	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	1053
HP:0000752	HP:0000752	Hyperactivity	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	126
HP:0000752	HP:0000752	Hyperactivity	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	427
HP:0000752	HP:0000752	Hyperactivity	0	SCN3A CL E G H	6328	10590	OMIM:617935	Epilepsy, familial focal, with variable foci 4		70
HP:0000752	HP:0000752	Hyperactivity	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		70
HP:0000752	HP:0000752	Hyperactivity	0	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia		357
HP:0000752	HP:0000752	Hyperactivity	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		357
HP:0000752	HP:0000752	Hyperactivity	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000752	HP:0000752	Hyperactivity	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0000752	HP:0000752	Hyperactivity	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X		48
HP:0000752	HP:0000752	Hyperactivity	0	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome	HP:0040282 - Frequent	143
HP:0000752	HP:0000752	Hyperactivity	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0000752	HP:0000752	Hyperactivity	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0000752	HP:0000752	Hyperactivity	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency		43
HP:0000752	HP:0000752	Hyperactivity	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.	97
HP:0000752	HP:0000752	Hyperactivity	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0000752	HP:0000752	Hyperactivity	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0000752	HP:0000752	Hyperactivity	0	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61		2
HP:0000752	HP:0000752	Hyperactivity	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040282 - Frequent	53
HP:0000752	HP:0000752	Hyperactivity	0	SHANK3 CL E G H	85358	14294	OMIM:613950	Schizophrenia 15	.	53
HP:0000752	HP:0000752	Hyperactivity	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly		67
HP:0000752	HP:0000752	Hyperactivity	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly		67
HP:0000752	HP:0000752	Hyperactivity	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		67
HP:0000752	HP:0000752	Hyperactivity	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly		67
HP:0000752	HP:0000752	Hyperactivity	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000752	HP:0000752	Hyperactivity	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0000752	HP:0000752	Hyperactivity	0	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type	HP:0040282 - Frequent	42
HP:0000752	HP:0000752	Hyperactivity	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	11
HP:0000752	HP:0000752	Hyperactivity	0	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency		40
HP:0000752	HP:0000752	Hyperactivity	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000752	HP:0000752	Hyperactivity	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly		32
HP:0000752	HP:0000752	Hyperactivity	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly		32
HP:0000752	HP:0000752	Hyperactivity	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		32
HP:0000752	HP:0000752	Hyperactivity	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly		32
HP:0000752	HP:0000752	Hyperactivity	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		73
HP:0000752	HP:0000752	Hyperactivity	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		3
HP:0000752	HP:0000752	Hyperactivity	0	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	.	4
HP:0000752	HP:0000752	Hyperactivity	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional	4
HP:0000752	HP:0000752	Hyperactivity	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040283 - Occasional	82
HP:0000752	HP:0000752	Hyperactivity	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0000752	HP:0000752	Hyperactivity	0	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy		255
HP:0000752	HP:0000752	Hyperactivity	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	255
HP:0000752	HP:0000752	Hyperactivity	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0000752	HP:0000752	Hyperactivity	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	29
HP:0000752	HP:0000752	Hyperactivity	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked		122
HP:0000752	HP:0000752	Hyperactivity	0	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency	HP:0040282 - Frequent	122
HP:0000752	HP:0000752	Hyperactivity	0	SLC7A6OS CL E G H	84138	25807	OMIM:619191	EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0000752	HP:0000752	Hyperactivity	0	SLITRK1 CL E G H	114798	20297	OMIM:137580	Gilles de la tourette syndrome		58
HP:0000752	HP:0000752	Hyperactivity	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000752	HP:0000752	Hyperactivity	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0000752	HP:0000752	Hyperactivity	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	617
HP:0000752	HP:0000752	Hyperactivity	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	87
HP:0000752	HP:0000752	Hyperactivity	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	1
HP:0000752	HP:0000752	Hyperactivity	0	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8	.	1
HP:0000752	HP:0000752	Hyperactivity	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0000752	HP:0000752	Hyperactivity	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	47
HP:0000752	HP:0000752	Hyperactivity	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0000752	HP:0000752	Hyperactivity	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly		135
HP:0000752	HP:0000752	Hyperactivity	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0000752	HP:0000752	Hyperactivity	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B		164
HP:0000752	HP:0000752	Hyperactivity	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000752	HP:0000752	Hyperactivity	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000752	HP:0000752	Hyperactivity	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome	.	37
HP:0000752	HP:0000752	Hyperactivity	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional	37
HP:0000752	HP:0000752	Hyperactivity	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation		37
HP:0000752	HP:0000752	Hyperactivity	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	14
HP:0000752	HP:0000752	Hyperactivity	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0000752	HP:0000752	Hyperactivity	0	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency		11
HP:0000752	HP:0000752	Hyperactivity	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0000752	HP:0000752	Hyperactivity	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0000752	HP:0000752	Hyperactivity	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7		171
HP:0000752	HP:0000752	Hyperactivity	0	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	.	28
HP:0000752	HP:0000752	Hyperactivity	0	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome		136
HP:0000752	HP:0000752	Hyperactivity	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0000752	HP:0000752	Hyperactivity	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000752	HP:0000752	Hyperactivity	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0000752	HP:0000752	Hyperactivity	0	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy		50
HP:0000752	HP:0000752	Hyperactivity	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly		1
HP:0000752	HP:0000752	Hyperactivity	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities		1
HP:0000752	HP:0000752	Hyperactivity	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly		1
HP:0000752	HP:0000752	Hyperactivity	0	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome	HP:0040282 - Frequent	1
HP:0000752	HP:0000752	Hyperactivity	0	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000752	HP:0000752	Hyperactivity	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly		99
HP:0000752	HP:0000752	Hyperactivity	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly		99
HP:0000752	HP:0000752	Hyperactivity	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		99
HP:0000752	HP:0000752	Hyperactivity	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly		99
HP:0000752	HP:0000752	Hyperactivity	0	STS CL E G H	412	11425	ORPHA:461	Recessive X-linked ichthyosis		19
HP:0000752	HP:0000752	Hyperactivity	0	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis		19
HP:0000752	HP:0000752	Hyperactivity	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000752	HP:0000752	Hyperactivity	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	108
HP:0000752	HP:0000752	Hyperactivity	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		108
HP:0000752	HP:0000752	Hyperactivity	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		9
HP:0000752	HP:0000752	Hyperactivity	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		123
HP:0000752	HP:0000752	Hyperactivity	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000752	HP:0000752	Hyperactivity	0	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.	5
HP:0000752	HP:0000752	Hyperactivity	0	TANC2 CL E G H	26115	30212	OMIM:618906	INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0000752	HP:0000752	Hyperactivity	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000752	HP:0000752	Hyperactivity	0	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	HP:0040283 - Occasional
HP:0000752	HP:0000752	Hyperactivity	0	TBL1X CL E G H	6907	11585	OMIM:301033	Hypothyroidism, congenital, nongoitrous, 8		1
HP:0000752	HP:0000752	Hyperactivity	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000752	HP:0000752	Hyperactivity	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0000752	HP:0000752	Hyperactivity	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome		32
HP:0000752	HP:0000752	Hyperactivity	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0000752	HP:0000752	Hyperactivity	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.	1
HP:0000752	HP:0000752	Hyperactivity	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly		1
HP:0000752	HP:0000752	Hyperactivity	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly		1
HP:0000752	HP:0000752	Hyperactivity	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		1
HP:0000752	HP:0000752	Hyperactivity	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly		1
HP:0000752	HP:0000752	Hyperactivity	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000752	HP:0000752	Hyperactivity	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome		253
HP:0000752	HP:0000752	Hyperactivity	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly		32
HP:0000752	HP:0000752	Hyperactivity	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly		32
HP:0000752	HP:0000752	Hyperactivity	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		32
HP:0000752	HP:0000752	Hyperactivity	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly		32
HP:0000752	HP:0000752	Hyperactivity	0	THRB CL E G H	7068	11799	OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant		161
HP:0000752	HP:0000752	Hyperactivity	0	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive		161
HP:0000752	HP:0000752	Hyperactivity	0	TIAM1 CL E G H	7074	11805	OMIM:619908			2
HP:0000752	HP:0000752	Hyperactivity	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome		15
HP:0000752	HP:0000752	Hyperactivity	0	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects		4
HP:0000752	HP:0000752	Hyperactivity	0	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency		4
HP:0000752	HP:0000752	Hyperactivity	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0000752	HP:0000752	Hyperactivity	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0000752	HP:0000752	Hyperactivity	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000752	HP:0000752	Hyperactivity	0	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0000752	HP:0000752	Hyperactivity	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000752	HP:0000752	Hyperactivity	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome		166
HP:0000752	HP:0000752	Hyperactivity	0	TNIK CL E G H	23043	30765	OMIM:617028	Mental retardation, autosomal recessive 54	.	2
HP:0000752	HP:0000752	Hyperactivity	0	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000752	HP:0000752	Hyperactivity	0	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000752	HP:0000752	Hyperactivity	0	TPH2 CL E G H	121278	20692	OMIM:613003	ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7		31
HP:0000752	HP:0000752	Hyperactivity	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0000752	HP:0000752	Hyperactivity	0	TRAPPC14 CL E G H	55262	25604	OMIM:618351	Microcephaly 25, primary, autosomal recessive
HP:0000752	HP:0000752	Hyperactivity	0	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	.	158
HP:0000752	HP:0000752	Hyperactivity	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0000752	HP:0000752	Hyperactivity	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0000752	HP:0000752	Hyperactivity	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0000752	HP:0000752	Hyperactivity	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome		8
HP:0000752	HP:0000752	Hyperactivity	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49	.	2
HP:0000752	HP:0000752	Hyperactivity	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	1090
HP:0000752	HP:0000752	Hyperactivity	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0000752	HP:0000752	Hyperactivity	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	2738
HP:0000752	HP:0000752	Hyperactivity	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0000752	HP:0000752	Hyperactivity	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0000752	HP:0000752	Hyperactivity	0	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism	HP:0040282 - Frequent	97
HP:0000752	HP:0000752	Hyperactivity	0	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor	HP:0040282 - Frequent	97
HP:0000752	HP:0000752	Hyperactivity	0	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune	.	97
HP:0000752	HP:0000752	Hyperactivity	0	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.	11
HP:0000752	HP:0000752	Hyperactivity	0	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0000752	HP:0000752	Hyperactivity	0	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria		106
HP:0000752	HP:0000752	Hyperactivity	0	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation		39
HP:0000752	HP:0000752	Hyperactivity	0	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria		39
HP:0000752	HP:0000752	Hyperactivity	0	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria		64
HP:0000752	HP:0000752	Hyperactivity	0	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome		14
HP:0000752	HP:0000752	Hyperactivity	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		13
HP:0000752	HP:0000752	Hyperactivity	0	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome		278
HP:0000752	HP:0000752	Hyperactivity	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome	.	278
HP:0000752	HP:0000752	Hyperactivity	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional	278
HP:0000752	HP:0000752	Hyperactivity	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent	278
HP:0000752	HP:0000752	Hyperactivity	0	UBE4A CL E G H	9354	12499	OMIM:619639	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS		1
HP:0000752	HP:0000752	Hyperactivity	0	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	HP:0040283 - Occasional	1
HP:0000752	HP:0000752	Hyperactivity	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000752	HP:0000752	Hyperactivity	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome		33
HP:0000752	HP:0000752	Hyperactivity	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7	.	7
HP:0000752	HP:0000752	Hyperactivity	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome		2
HP:0000752	HP:0000752	Hyperactivity	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130
HP:0000752	HP:0000752	Hyperactivity	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000752	HP:0000752	Hyperactivity	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome		20
HP:0000752	HP:0000752	Hyperactivity	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion		20
HP:0000752	HP:0000752	Hyperactivity	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation		20
HP:0000752	HP:0000752	Hyperactivity	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000752	HP:0000752	Hyperactivity	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	.	224
HP:0000752	HP:0000752	Hyperactivity	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		149
HP:0000752	HP:0000752	Hyperactivity	0	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.	2
HP:0000752	HP:0000752	Hyperactivity	0	YWHAG CL E G H	7532	12852	OMIM:617665	Epileptic encephalopathy, early infantile, 56
HP:0000752	HP:0000752	Hyperactivity	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0000752	HP:0000752	Hyperactivity	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0000752	HP:0000752	Hyperactivity	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0000752	HP:0000752	Hyperactivity	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome		10
HP:0000752	HP:0000752	Hyperactivity	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly		34
HP:0000752	HP:0000752	Hyperactivity	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly		34
HP:0000752	HP:0000752	Hyperactivity	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		34
HP:0000752	HP:0000752	Hyperactivity	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly		34
HP:0000752	HP:0000752	Hyperactivity	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000752	HP:0000752	Hyperactivity	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000752	HP:0000752	Hyperactivity	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0000752	HP:0000752	Hyperactivity	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.	5
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.	135
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040282 - Frequent	47
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71	.
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040283 - Occasional	2
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	7
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	1
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive	.	512
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	239
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	150
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional	61
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome	.	17
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040282 - Frequent	385
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	C12ORF4 CL E G H	57102	1184	OMIM:618221	Mental retardation, autosomal recessive 66		2
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare	94
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	449
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy	HP:0040282 - Frequent	75
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	59
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CDH2 CL E G H	1000	1759	OMIM:619957
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	114
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	200
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	227
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	515
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare	188
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare	225
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome	HP:0040283 - Occasional	52
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare	88
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45	.	39
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56	.	1
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG		18
HP:0000752	HP:0007018	Attention deficit hyperactivity disorder	1	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional