Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Interictal epileptiform activity (HP:0011182)

Parent Node:
EEG with generalized epileptiform discharges (HP:0011198)

..Starting node
..Hypsarrhythmia (HP:0002521)

Term ID:

2521

Name:

Hypsarrhythmia

Synonym:

Hypsarrhythmia by EEG

Definition:

Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).

Comments:

Reference:

HP:0002521

Genes and Diseases:

Child Nodes:

Sister Nodes:

EEG with burst suppression (HP:0010851)

EEG with generalized polymorphic epileptiform discharges (HP:0011200)

EEG with generalized polyspikes (HP:0012001)

EEG with generalized sharp slow waves (HP:0011199)

EEG with generalized spikes (HP:0012000)

EEG with spike-wave complexes (HP:0010850)

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:0002521	HP:0002521	Hypsarrhythmia	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0002521	HP:0002521	Hypsarrhythmia	0	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	245
HP:0002521	HP:0002521	Hypsarrhythmia	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0002521	HP:0002521	Hypsarrhythmia	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17	.	1
HP:0002521	HP:0002521	Hypsarrhythmia	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	227
HP:0002521	HP:0002521	Hypsarrhythmia	0	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG	HP:0040282 - Frequent	96
HP:0002521	HP:0002521	Hypsarrhythmia	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36	.	96
HP:0002521	HP:0002521	Hypsarrhythmia	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0002521	HP:0002521	Hypsarrhythmia	0	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040282 - Frequent	46
HP:0002521	HP:0002521	Hypsarrhythmia	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii	.	46
HP:0002521	HP:0002521	Hypsarrhythmia	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.	37
HP:0002521	HP:0002521	Hypsarrhythmia	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0002521	HP:0002521	Hypsarrhythmia	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	7
HP:0002521	HP:0002521	Hypsarrhythmia	0	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0002521	HP:0002521	Hypsarrhythmia	0	ARFGEF1 CL E G H	10565	15772	OMIM:619964
HP:0002521	HP:0002521	Hypsarrhythmia	0	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive	.	179
HP:0002521	HP:0002521	Hypsarrhythmia	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0002521	HP:0002521	Hypsarrhythmia	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0002521	HP:0002521	Hypsarrhythmia	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	166
HP:0002521	HP:0002521	Hypsarrhythmia	0	ARX CL E G H	170302	18060	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent	166
HP:0002521	HP:0002521	Hypsarrhythmia	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.	17
HP:0002521	HP:0002521	Hypsarrhythmia	0	ASPA CL E G H	443	756	OMIM:271900	Canavan disease		48
HP:0002521	HP:0002521	Hypsarrhythmia	0	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0002521	HP:0002521	Hypsarrhythmia	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0002521	HP:0002521	Hypsarrhythmia	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	239
HP:0002521	HP:0002521	Hypsarrhythmia	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	150
HP:0002521	HP:0002521	Hypsarrhythmia	0	ATP6V0A1 CL E G H	535	865	OMIM:619970			1
HP:0002521	HP:0002521	Hypsarrhythmia	0	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.	3
HP:0002521	HP:0002521	Hypsarrhythmia	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0002521	HP:0002521	Hypsarrhythmia	0	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease		192
HP:0002521	HP:0002521	Hypsarrhythmia	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	449
HP:0002521	HP:0002521	Hypsarrhythmia	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0002521	HP:0002521	Hypsarrhythmia	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69	.	11
HP:0002521	HP:0002521	Hypsarrhythmia	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	59
HP:0002521	HP:0002521	Hypsarrhythmia	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	118
HP:0002521	HP:0002521	Hypsarrhythmia	0	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.	1
HP:0002521	HP:0002521	Hypsarrhythmia	0	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0002521	HP:0002521	Hypsarrhythmia	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0002521	HP:0002521	Hypsarrhythmia	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2		405
HP:0002521	HP:0002521	Hypsarrhythmia	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	405
HP:0002521	HP:0002521	Hypsarrhythmia	0	CDKL5 CL E G H	6792	11411	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent	405
HP:0002521	HP:0002521	Hypsarrhythmia	0	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0002521	HP:0002521	Hypsarrhythmia	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0002521	HP:0002521	Hypsarrhythmia	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0002521	HP:0002521	Hypsarrhythmia	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	18
HP:0002521	HP:0002521	Hypsarrhythmia	0	CNPY3 CL E G H	10695	11968	OMIM:617929	Epileptic encephalopathy, early infantile, 60	.
HP:0002521	HP:0002521	Hypsarrhythmia	0	CNPY3 CL E G H	10695	11968	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent
HP:0002521	HP:0002521	Hypsarrhythmia	0	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0002521	HP:0002521	Hypsarrhythmia	0	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0002521	HP:0002521	Hypsarrhythmia	0	CUX2 CL E G H	23316	19347	OMIM:618141	Epileptic encephalopathy, early infantile, 67	HP:0040284 - Very rare
HP:0002521	HP:0002521	Hypsarrhythmia	0	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65		1
HP:0002521	HP:0002521	Hypsarrhythmia	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0002521	HP:0002521	Hypsarrhythmia	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1		102
HP:0002521	HP:0002521	Hypsarrhythmia	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0002521	HP:0002521	Hypsarrhythmia	0	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040283 - Occasional	145
HP:0002521	HP:0002521	Hypsarrhythmia	0	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040284 - Very rare	172
HP:0002521	HP:0002521	Hypsarrhythmia	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	47
HP:0002521	HP:0002521	Hypsarrhythmia	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	3
HP:0002521	HP:0002521	Hypsarrhythmia	0	DNM1 CL E G H	1759	2972	OMIM:616346	Epileptic encephalopathy, early infantile, 31	.	72
HP:0002521	HP:0002521	Hypsarrhythmia	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	72
HP:0002521	HP:0002521	Hypsarrhythmia	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0002521	HP:0002521	Hypsarrhythmia	0	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23	.	11
HP:0002521	HP:0002521	Hypsarrhythmia	0	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im	.	55
HP:0002521	HP:0002521	Hypsarrhythmia	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0002521	HP:0002521	Hypsarrhythmia	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040282 - Frequent	38
HP:0002521	HP:0002521	Hypsarrhythmia	0	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33	.	60
HP:0002521	HP:0002521	Hypsarrhythmia	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	60
HP:0002521	HP:0002521	Hypsarrhythmia	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040282 - Frequent	83
HP:0002521	HP:0002521	Hypsarrhythmia	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent	36
HP:0002521	HP:0002521	Hypsarrhythmia	0	ERMARD CL E G H	55780	21056	OMIM:615544	Periventricular nodular heterotopia 6	.	36
HP:0002521	HP:0002521	Hypsarrhythmia	0	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB		1
HP:0002521	HP:0002521	Hypsarrhythmia	0	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47	.	3
HP:0002521	HP:0002521	Hypsarrhythmia	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0002521	HP:0002521	Hypsarrhythmia	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0002521	HP:0002521	Hypsarrhythmia	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0002521	HP:0002521	Hypsarrhythmia	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0002521	HP:0002521	Hypsarrhythmia	0	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59	.	5
HP:0002521	HP:0002521	Hypsarrhythmia	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0002521	HP:0002521	Hypsarrhythmia	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	4
HP:0002521	HP:0002521	Hypsarrhythmia	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0002521	HP:0002521	Hypsarrhythmia	0	GABRB1 CL E G H	2560	4081	OMIM:617153	Epileptic encephalopathy, early infantile, 45	.	3
HP:0002521	HP:0002521	Hypsarrhythmia	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	44
HP:0002521	HP:0002521	Hypsarrhythmia	0	GABRB3 CL E G H	2562	4083	OMIM:617113	Epileptic encephalopathy, early infantile, 43		57
HP:0002521	HP:0002521	Hypsarrhythmia	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	139
HP:0002521	HP:0002521	Hypsarrhythmia	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0002521	HP:0002521	Hypsarrhythmia	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0002521	HP:0002521	Hypsarrhythmia	0	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	HP:0040284 - Very rare	43
HP:0002521	HP:0002521	Hypsarrhythmia	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA	.	6
HP:0002521	HP:0002521	Hypsarrhythmia	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	36
HP:0002521	HP:0002521	Hypsarrhythmia	0	GNAO1 CL E G H	2775	4389	OMIM:615473	Epileptic encephalopathy, early infantile, 17	.	36
HP:0002521	HP:0002521	Hypsarrhythmia	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0002521	HP:0002521	Hypsarrhythmia	0	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	HP:0040283 - Occasional	7
HP:0002521	HP:0002521	Hypsarrhythmia	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	108
HP:0002521	HP:0002521	Hypsarrhythmia	0	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27	.	274
HP:0002521	HP:0002521	Hypsarrhythmia	0	GRIN2B CL E G H	2904	4586	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent	274
HP:0002521	HP:0002521	Hypsarrhythmia	0	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46	.	2
HP:0002521	HP:0002521	Hypsarrhythmia	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0002521	HP:0002521	Hypsarrhythmia	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	5
HP:0002521	HP:0002521	Hypsarrhythmia	0	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40	.	2
HP:0002521	HP:0002521	Hypsarrhythmia	0	GUF1 CL E G H	60558	25799	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent	2
HP:0002521	HP:0002521	Hypsarrhythmia	0	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type	.	100
HP:0002521	HP:0002521	Hypsarrhythmia	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	54
HP:0002521	HP:0002521	Hypsarrhythmia	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040282 - Frequent	32
HP:0002521	HP:0002521	Hypsarrhythmia	0	HID1 CL E G H	283987	15736	OMIM:619983
HP:0002521	HP:0002521	Hypsarrhythmia	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional	35
HP:0002521	HP:0002521	Hypsarrhythmia	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.	25
HP:0002521	HP:0002521	Hypsarrhythmia	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.	6
HP:0002521	HP:0002521	Hypsarrhythmia	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	145
HP:0002521	HP:0002521	Hypsarrhythmia	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	13
HP:0002521	HP:0002521	Hypsarrhythmia	0	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26		65
HP:0002521	HP:0002521	Hypsarrhythmia	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	65
HP:0002521	HP:0002521	Hypsarrhythmia	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0002521	HP:0002521	Hypsarrhythmia	0	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	127
HP:0002521	HP:0002521	Hypsarrhythmia	0	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2		127
HP:0002521	HP:0002521	Hypsarrhythmia	0	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy	HP:0040283 - Occasional	528
HP:0002521	HP:0002521	Hypsarrhythmia	0	KCNT2 CL E G H	343450	18866	OMIM:617771	Epileptic encephalopathy, early infantile, 57	.	1
HP:0002521	HP:0002521	Hypsarrhythmia	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	276
HP:0002521	HP:0002521	Hypsarrhythmia	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	8
HP:0002521	HP:0002521	Hypsarrhythmia	0	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0002521	HP:0002521	Hypsarrhythmia	0	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	.	23
HP:0002521	HP:0002521	Hypsarrhythmia	0	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	.	17
HP:0002521	HP:0002521	Hypsarrhythmia	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent	17
HP:0002521	HP:0002521	Hypsarrhythmia	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0002521	HP:0002521	Hypsarrhythmia	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF		32
HP:0002521	HP:0002521	Hypsarrhythmia	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0002521	HP:0002521	Hypsarrhythmia	0	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	HP:0040282 - Frequent	1
HP:0002521	HP:0002521	Hypsarrhythmia	0	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	34
HP:0002521	HP:0002521	Hypsarrhythmia	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0002521	HP:0002521	Hypsarrhythmia	0	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0002521	HP:0002521	Hypsarrhythmia	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0002521	HP:0002521	Hypsarrhythmia	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent
HP:0002521	HP:0002521	Hypsarrhythmia	0	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72	.
HP:0002521	HP:0002521	Hypsarrhythmia	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0002521	HP:0002521	Hypsarrhythmia	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0002521	HP:0002521	Hypsarrhythmia	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040282 - Frequent	77
HP:0002521	HP:0002521	Hypsarrhythmia	0	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040284 - Very rare	4
HP:0002521	HP:0002521	Hypsarrhythmia	0	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040284 - Very rare	7
HP:0002521	HP:0002521	Hypsarrhythmia	0	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58		8
HP:0002521	HP:0002521	Hypsarrhythmia	0	NTRK2 CL E G H	4915	8032	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent	8
HP:0002521	HP:0002521	Hypsarrhythmia	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	8
HP:0002521	HP:0002521	Hypsarrhythmia	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0002521	HP:0002521	Hypsarrhythmia	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0002521	HP:0002521	Hypsarrhythmia	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040283 - Occasional	231
HP:0002521	HP:0002521	Hypsarrhythmia	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0002521	HP:0002521	Hypsarrhythmia	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	14
HP:0002521	HP:0002521	Hypsarrhythmia	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	88
HP:0002521	HP:0002521	Hypsarrhythmia	0	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70		1
HP:0002521	HP:0002521	Hypsarrhythmia	0	PHACTR1 CL E G H	221692	20990	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent	1
HP:0002521	HP:0002521	Hypsarrhythmia	0	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency	.	37
HP:0002521	HP:0002521	Hypsarrhythmia	0	PIGA CL E G H	5277	8957	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent	46
HP:0002521	HP:0002521	Hypsarrhythmia	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0002521	HP:0002521	Hypsarrhythmia	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	2
HP:0002521	HP:0002521	Hypsarrhythmia	0	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.	2
HP:0002521	HP:0002521	Hypsarrhythmia	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	3
HP:0002521	HP:0002521	Hypsarrhythmia	0	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11	.	6
HP:0002521	HP:0002521	Hypsarrhythmia	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent	3
HP:0002521	HP:0002521	Hypsarrhythmia	0	PLCB1 CL E G H	23236	15917	OMIM:613722	Epileptic encephalopathy, early infantile, 12	.	119
HP:0002521	HP:0002521	Hypsarrhythmia	0	PLCB1 CL E G H	23236	15917	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent	119
HP:0002521	HP:0002521	Hypsarrhythmia	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	6
HP:0002521	HP:0002521	Hypsarrhythmia	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	244
HP:0002521	HP:0002521	Hypsarrhythmia	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0002521	HP:0002521	Hypsarrhythmia	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1	.	2
HP:0002521	HP:0002521	Hypsarrhythmia	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0002521	HP:0002521	Hypsarrhythmia	0	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS		3
HP:0002521	HP:0002521	Hypsarrhythmia	0	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency	HP:0040283 - Occasional	19
HP:0002521	HP:0002521	Hypsarrhythmia	0	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome	.	57
HP:0002521	HP:0002521	Hypsarrhythmia	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0002521	HP:0002521	Hypsarrhythmia	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0002521	HP:0002521	Hypsarrhythmia	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	126
HP:0002521	HP:0002521	Hypsarrhythmia	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	427
HP:0002521	HP:0002521	Hypsarrhythmia	0	SCN2A CL E G H	6326	10588	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent	427
HP:0002521	HP:0002521	Hypsarrhythmia	0	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62		70
HP:0002521	HP:0002521	Hypsarrhythmia	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	70
HP:0002521	HP:0002521	Hypsarrhythmia	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	357
HP:0002521	HP:0002521	Hypsarrhythmia	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0002521	HP:0002521	Hypsarrhythmia	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0002521	HP:0002521	Hypsarrhythmia	0	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67	.	11
HP:0002521	HP:0002521	Hypsarrhythmia	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	11
HP:0002521	HP:0002521	Hypsarrhythmia	0	SIK1 CL E G H	150094	11142	ORPHA:1935	Early myoclonic encephalopathy	HP:0040283 - Occasional	11
HP:0002521	HP:0002521	Hypsarrhythmia	0	SIK1 CL E G H	150094	11142	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent	11
HP:0002521	HP:0002521	Hypsarrhythmia	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	73
HP:0002521	HP:0002521	Hypsarrhythmia	0	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41	HP:0040283 - Occasional	3
HP:0002521	HP:0002521	Hypsarrhythmia	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0002521	HP:0002521	Hypsarrhythmia	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional	4
HP:0002521	HP:0002521	Hypsarrhythmia	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	166
HP:0002521	HP:0002521	Hypsarrhythmia	0	SLC25A22 CL E G H	79751	19954	ORPHA:1935	Early myoclonic encephalopathy	HP:0040283 - Occasional	166
HP:0002521	HP:0002521	Hypsarrhythmia	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0002521	HP:0002521	Hypsarrhythmia	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040281 - Very frequent	27
HP:0002521	HP:0002521	Hypsarrhythmia	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0002521	HP:0002521	Hypsarrhythmia	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional	11
HP:0002521	HP:0002521	Hypsarrhythmia	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0002521	HP:0002521	Hypsarrhythmia	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040283 - Occasional	19
HP:0002521	HP:0002521	Hypsarrhythmia	0	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5	.	416
HP:0002521	HP:0002521	Hypsarrhythmia	0	SPTAN1 CL E G H	6709	11273	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent	416
HP:0002521	HP:0002521	Hypsarrhythmia	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002521	HP:0002521	Hypsarrhythmia	0	ST3GAL3 CL E G H	6487	10866	OMIM:615006	Epileptic encephalopathy, early infantile, 15	.	41
HP:0002521	HP:0002521	Hypsarrhythmia	0	ST3GAL3 CL E G H	6487	10866	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent	41
HP:0002521	HP:0002521	Hypsarrhythmia	0	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4	.	237
HP:0002521	HP:0002521	Hypsarrhythmia	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0002521	HP:0002521	Hypsarrhythmia	0	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53	.	9
HP:0002521	HP:0002521	Hypsarrhythmia	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	9
HP:0002521	HP:0002521	Hypsarrhythmia	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	123
HP:0002521	HP:0002521	Hypsarrhythmia	0	TBL1XR1 CL E G H	79718	29529	OMIM:616944	Mental retardation, autosomal dominant 41		22
HP:0002521	HP:0002521	Hypsarrhythmia	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0002521	HP:0002521	Hypsarrhythmia	0	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040283 - Occasional	1
HP:0002521	HP:0002521	Hypsarrhythmia	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX	HP:0040284 - Very rare	1
HP:0002521	HP:0002521	Hypsarrhythmia	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0002521	HP:0002521	Hypsarrhythmia	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040283 - Occasional	2
HP:0002521	HP:0002521	Hypsarrhythmia	0	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	.	2
HP:0002521	HP:0002521	Hypsarrhythmia	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	1
HP:0002521	HP:0002521	Hypsarrhythmia	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0002521	HP:0002521	Hypsarrhythmia	0	TUBB2A CL E G H	7280	12412	OMIM:615763	Cortical dysplasia, complex, with other brain malformations 5	HP:0040283 - Occasional	23
HP:0002521	HP:0002521	Hypsarrhythmia	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	13
HP:0002521	HP:0002521	Hypsarrhythmia	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0002521	HP:0002521	Hypsarrhythmia	0	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency		44
HP:0002521	HP:0002521	Hypsarrhythmia	0	WDR45 CL E G H	11152	28912	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent	51
HP:0002521	HP:0002521	Hypsarrhythmia	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	149
HP:0002521	HP:0002521	Hypsarrhythmia	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0002521	HP:0002521	Hypsarrhythmia	0	ZNF526 CL E G H	116115	29415	OMIM:619877			24
HP:0002521	HP:0002521	Hypsarrhythmia	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	1
HP:0002521	HP:0002521	Hypsarrhythmia	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome		1

Genes (167) :AARS1 ABCC8 ACTL6B AIMP2 ALDH7A1 ALG13 ALG14 ALG2 ALG3 AP3B2 APC2 ARFGEF1 ARFGEF2 ARV1 ARX ASNS ASPA ATAD1 ATN1 ATP1A2 ATP1A3 ATP6V0A1 ATP6V1A ATP7A CACNA1A CACNA1B CACNA1E CACNA2D1 CASK CCDC88A CDK19 CDKL5 CELF2 CLTC CNKSR2 CNPY3 COX4I1 CUL3 CUX2 CYFIP2 D2HGDH DALRD3 DCX DEPDC5 DHDDS DMXL2 DNM1 DOCK7 DOLK DPAGT1 EEF1A2 EPM2A ERMARD EXOC8 FGF12 FGF13 FZR1 GABBR2 GABRA2 GABRA5 GABRB1 GABRB2 GABRB3 GABRG2 GAD1 GFM2 GLYCTK GNAO1 GNB1 GNB5 GRIN1 GRIN2B GRIN2D GRM7 GUF1 HCFC1 HCN1 HIBCH HID1 HMGCL IARS2 IER3IP1 KCNA1 KCNA2 KCNB1 KCNC2 KCNJ11 KCNQ2 KCNT2 KIF1A LONP1 MDH1 MED17 MFF MGAT2 MPDU1 NACC1 NARS2 NAXD NDUFAF8 NECAP1 NEUROD2 NEXMIF NF1 NHLRC1 NPRL2 NPRL3 NTRK2 NUS1 OGDHL PAFAH1B1 PARS2 PDHA1 PHACTR1 PHGDH PIGA PIGP PIGQ PIGW PLAA PLCB1 PLPBP PNKP PPFIBP1 PPP3CA PTPN23 PTS ROGDI RUSC2 SATB1 SCN1B SCN2A SCN3A SCN8A SETBP1 SIK1 SLC13A5 SLC1A2 SLC1A4 SLC25A22 SLC35A2 SLC38A3 SLC39A8 SMC1A SPATA5 SPTAN1 SPTBN1 ST3GAL3 STXBP1 SYNGAP1 SYNJ1 SZT2 TBL1XR1 TGFB1 TIMM50 TRAK1 TRAPPC12 TRIM8 TUBB2A UBA5 UGDH UPB1 WDR45 WWOX YWHAG ZNF526 ZNHIT3

Diseases (136) :ORPHA:442835 ORPHA:79134 OMIM:618006 ORPHA:3006 ORPHA:324422 OMIM:300884 OMIM:619036 ORPHA:79326 OMIM:607906 OMIM:601110 OMIM:617276 OMIM:618677 OMIM:619964 OMIM:608097 OMIM:308350 ORPHA:1934 ORPHA:3451 OMIM:615574 OMIM:271900 OMIM:618011 OMIM:618494 OMIM:619970 OMIM:618012 OMIM:309400 OMIM:618285 OMIM:617507 OMIM:618916 OMIM:300672 OMIM:619561 OMIM:617929 OMIM:619060 OMIM:619239 OMIM:618141 OMIM:618008 OMIM:600721 ORPHA:2148 ORPHA:98820 OMIM:616346 ORPHA:411986 OMIM:615859 OMIM:610768 ORPHA:91131 ORPHA:86309 OMIM:616409 ORPHA:501 ORPHA:75857 OMIM:615544 OMIM:619076 OMIM:617166 OMIM:301058 OMIM:617904 OMIM:617153 OMIM:617113 OMIM:619124 ORPHA:565624 OMIM:618397 OMIM:220120 OMIM:615473 OMIM:616973 ORPHA:542306 OMIM:616139 OMIM:617162 OMIM:617065 OMIM:309541 ORPHA:88639 OMIM:619983 ORPHA:20 OMIM:616007 OMIM:614231 OMIM:616056 OMIM:619913 OMIM:618856 ORPHA:439218 OMIM:617771 ORPHA:2836 ORPHA:79243 OMIM:618959 OMIM:613668 OMIM:617086 ORPHA:485421 ORPHA:79329 OMIM:609180 ORPHA:79323 ORPHA:500545 OMIM:618321 OMIM:618776 OMIM:618374 OMIM:300912 OMIM:162200 OMIM:617830 OMIM:619701 ORPHA:95232 OMIM:618437 OMIM:618298 OMIM:601815 OMIM:300868 OMIM:617599 OMIM:616025 ORPHA:521426 OMIM:613722 OMIM:620024 OMIM:617711 OMIM:618890 ORPHA:13 OMIM:226750 OMIM:617773 OMIM:619229 OMIM:617938 OMIM:269150 ORPHA:798 OMIM:616341 ORPHA:1935 OMIM:617105 ORPHA:447997 OMIM:300896 ORPHA:356961 ORPHA:468699 OMIM:301044 ORPHA:457351 OMIM:613477 OMIM:619475 OMIM:615006 OMIM:612164 OMIM:617389 OMIM:616944 OMIM:618213 ORPHA:505216 OMIM:617698 ORPHA:500144 OMIM:617669 OMIM:619428 OMIM:615763 OMIM:618792 OMIM:613161 OMIM:619877 OMIM:260565

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

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