Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Seizure (HP:0001250)

Parent Node:
Epileptic spasm (HP:0011097)

..Starting node
..Infantile spasms (HP:0012469)

Term ID:

12469

Name:

Infantile spasms

Synonym:

Definition:

Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).

Comments:

Reference:

HP:0012469

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0012469	HP:0012469	Infantile spasms	0	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects	HP:0040284 - Very rare	2
HP:0012469	HP:0012469	Infantile spasms	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	88
HP:0012469	HP:0012469	Infantile spasms	0	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG	HP:0040280 - Obligate	96
HP:0012469	HP:0012469	Infantile spasms	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36		96
HP:0012469	HP:0012469	Infantile spasms	0	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF		12
HP:0012469	HP:0012469	Infantile spasms	0	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040283 - Occasional	46
HP:0012469	HP:0012469	Infantile spasms	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0012469	HP:0012469	Infantile spasms	0	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0012469	HP:0012469	Infantile spasms	0	ARFGEF1 CL E G H	10565	15772	OMIM:619964
HP:0012469	HP:0012469	Infantile spasms	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0012469	HP:0012469	Infantile spasms	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0012469	HP:0012469	Infantile spasms	0	ARX CL E G H	170302	18060	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent	166
HP:0012469	HP:0012469	Infantile spasms	0	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome		166
HP:0012469	HP:0012469	Infantile spasms	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040284 - Very rare	78
HP:0012469	HP:0012469	Infantile spasms	0	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0012469	HP:0012469	Infantile spasms	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012469	HP:0012469	Infantile spasms	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional	223
HP:0012469	HP:0012469	Infantile spasms	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	118
HP:0012469	HP:0012469	Infantile spasms	0	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0012469	HP:0012469	Infantile spasms	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0012469	HP:0012469	Infantile spasms	0	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0012469	HP:0012469	Infantile spasms	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	405
HP:0012469	HP:0012469	Infantile spasms	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040282 - Frequent	405
HP:0012469	HP:0012469	Infantile spasms	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2		405
HP:0012469	HP:0012469	Infantile spasms	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	405
HP:0012469	HP:0012469	Infantile spasms	0	CDKL5 CL E G H	6792	11411	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent	405
HP:0012469	HP:0012469	Infantile spasms	0	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		1
HP:0012469	HP:0012469	Infantile spasms	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional	45
HP:0012469	HP:0012469	Infantile spasms	0	CNPY3 CL E G H	10695	11968	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent
HP:0012469	HP:0012469	Infantile spasms	0	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0012469	HP:0012469	Infantile spasms	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1		102
HP:0012469	HP:0012469	Infantile spasms	0	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040282 - Frequent	145
HP:0012469	HP:0012469	Infantile spasms	0	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional	172
HP:0012469	HP:0012469	Infantile spasms	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0012469	HP:0012469	Infantile spasms	0	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC		2
HP:0012469	HP:0012469	Infantile spasms	0	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81		3
HP:0012469	HP:0012469	Infantile spasms	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0012469	HP:0012469	Infantile spasms	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:0012469	HP:0012469	Infantile spasms	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0012469	HP:0012469	Infantile spasms	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38		60
HP:0012469	HP:0012469	Infantile spasms	0	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G		83
HP:0012469	HP:0012469	Infantile spasms	0	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	HP:0040282 - Frequent	12
HP:0012469	HP:0012469	Infantile spasms	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0012469	HP:0012469	Infantile spasms	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	5
HP:0012469	HP:0012469	Infantile spasms	0	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59		5
HP:0012469	HP:0012469	Infantile spasms	0	GABRB3 CL E G H	2562	4083	OMIM:617113	Epileptic encephalopathy, early infantile, 43		57
HP:0012469	HP:0012469	Infantile spasms	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	115
HP:0012469	HP:0012469	Infantile spasms	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	36
HP:0012469	HP:0012469	Infantile spasms	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0012469	HP:0012469	Infantile spasms	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional	108
HP:0012469	HP:0012469	Infantile spasms	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0012469	HP:0012469	Infantile spasms	0	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27		274
HP:0012469	HP:0012469	Infantile spasms	0	GRIN2B CL E G H	2904	4586	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent	274
HP:0012469	HP:0012469	Infantile spasms	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0012469	HP:0012469	Infantile spasms	0	GUF1 CL E G H	60558	25799	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent	2
HP:0012469	HP:0012469	Infantile spasms	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0012469	HP:0012469	Infantile spasms	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040282 - Frequent	32
HP:0012469	HP:0012469	Infantile spasms	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0012469	HP:0012469	Infantile spasms	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	23
HP:0012469	HP:0012469	Infantile spasms	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0012469	HP:0012469	Infantile spasms	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	145
HP:0012469	HP:0012469	Infantile spasms	0	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26		65
HP:0012469	HP:0012469	Infantile spasms	0	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46		5
HP:0012469	HP:0012469	Infantile spasms	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0012469	HP:0012469	Infantile spasms	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	276
HP:0012469	HP:0012469	Infantile spasms	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	8
HP:0012469	HP:0012469	Infantile spasms	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0012469	HP:0012469	Infantile spasms	0	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		2
HP:0012469	HP:0012469	Infantile spasms	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0012469	HP:0012469	Infantile spasms	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	950
HP:0012469	HP:0012469	Infantile spasms	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0012469	HP:0012469	Infantile spasms	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional	101
HP:0012469	HP:0012469	Infantile spasms	0	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination		1
HP:0012469	HP:0012469	Infantile spasms	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0012469	HP:0012469	Infantile spasms	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012469	HP:0012469	Infantile spasms	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012469	HP:0012469	Infantile spasms	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012469	HP:0012469	Infantile spasms	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012469	HP:0012469	Infantile spasms	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012469	HP:0012469	Infantile spasms	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012469	HP:0012469	Infantile spasms	0	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0012469	HP:0012469	Infantile spasms	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional
HP:0012469	HP:0012469	Infantile spasms	0	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0012469	HP:0012469	Infantile spasms	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0012469	HP:0012469	Infantile spasms	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0012469	HP:0012469	Infantile spasms	0	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional	4
HP:0012469	HP:0012469	Infantile spasms	0	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional	7
HP:0012469	HP:0012469	Infantile spasms	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	1
HP:0012469	HP:0012469	Infantile spasms	0	NTRK2 CL E G H	4915	8032	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent	8
HP:0012469	HP:0012469	Infantile spasms	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0012469	HP:0012469	Infantile spasms	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040281 - Very frequent	231
HP:0012469	HP:0012469	Infantile spasms	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	88
HP:0012469	HP:0012469	Infantile spasms	0	PHACTR1 CL E G H	221692	20990	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent	1
HP:0012469	HP:0012469	Infantile spasms	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	11
HP:0012469	HP:0012469	Infantile spasms	0	PIGA CL E G H	5277	8957	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent	46
HP:0012469	HP:0012469	Infantile spasms	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0012469	HP:0012469	Infantile spasms	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0012469	HP:0012469	Infantile spasms	0	PLCB1 CL E G H	23236	15917	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent	119
HP:0012469	HP:0012469	Infantile spasms	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	244
HP:0012469	HP:0012469	Infantile spasms	0	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0012469	HP:0012469	Infantile spasms	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:0012469	HP:0012469	Infantile spasms	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0012469	HP:0012469	Infantile spasms	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0012469	HP:0012469	Infantile spasms	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0012469	HP:0012469	Infantile spasms	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	126
HP:0012469	HP:0012469	Infantile spasms	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	427
HP:0012469	HP:0012469	Infantile spasms	0	SCN2A CL E G H	6326	10588	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent	427
HP:0012469	HP:0012469	Infantile spasms	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	66
HP:0012469	HP:0012469	Infantile spasms	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	11
HP:0012469	HP:0012469	Infantile spasms	0	SIK1 CL E G H	150094	11142	ORPHA:1935	Early myoclonic encephalopathy	HP:0040281 - Very frequent	11
HP:0012469	HP:0012469	Infantile spasms	0	SIK1 CL E G H	150094	11142	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent	11
HP:0012469	HP:0012469	Infantile spasms	0	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	HP:0040283 - Occasional	110
HP:0012469	HP:0012469	Infantile spasms	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional	4
HP:0012469	HP:0012469	Infantile spasms	0	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0012469	HP:0012469	Infantile spasms	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0012469	HP:0012469	Infantile spasms	0	SLC25A22 CL E G H	79751	19954	ORPHA:1935	Early myoclonic encephalopathy	HP:0040281 - Very frequent	166
HP:0012469	HP:0012469	Infantile spasms	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040282 - Frequent	27
HP:0012469	HP:0012469	Infantile spasms	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	135
HP:0012469	HP:0012469	Infantile spasms	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0012469	HP:0012469	Infantile spasms	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:0012469	HP:0012469	Infantile spasms	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0012469	HP:0012469	Infantile spasms	0	SPTAN1 CL E G H	6709	11273	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent	416
HP:0012469	HP:0012469	Infantile spasms	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012469	HP:0012469	Infantile spasms	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	50
HP:0012469	HP:0012469	Infantile spasms	0	ST3GAL3 CL E G H	6487	10866	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent	41
HP:0012469	HP:0012469	Infantile spasms	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040281 - Very frequent	6
HP:0012469	HP:0012469	Infantile spasms	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0012469	HP:0012469	Infantile spasms	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0012469	HP:0012469	Infantile spasms	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0012469	HP:0012469	Infantile spasms	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012469	HP:0012469	Infantile spasms	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012469	HP:0012469	Infantile spasms	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012469	HP:0012469	Infantile spasms	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012469	HP:0012469	Infantile spasms	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	1090
HP:0012469	HP:0012469	Infantile spasms	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0012469	HP:0012469	Infantile spasms	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	2738
HP:0012469	HP:0012469	Infantile spasms	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0012469	HP:0012469	Infantile spasms	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	3
HP:0012469	HP:0012469	Infantile spasms	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	84
HP:0012469	HP:0012469	Infantile spasms	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	57
HP:0012469	HP:0012469	Infantile spasms	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	102
HP:0012469	HP:0012469	Infantile spasms	0	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0012469	HP:0012469	Infantile spasms	0	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria		106
HP:0012469	HP:0012469	Infantile spasms	0	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia	HP:0040283 - Occasional	21
HP:0012469	HP:0012469	Infantile spasms	0	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria		39
HP:0012469	HP:0012469	Infantile spasms	0	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria		64
HP:0012469	HP:0012469	Infantile spasms	0	TUBG1 CL E G H	7283	12417	OMIM:615412	Cortical dysplasia, complex, with other brain malformations 4		14
HP:0012469	HP:0012469	Infantile spasms	0	UFSP2 CL E G H	55325	25640	OMIM:620028			2
HP:0012469	HP:0012469	Infantile spasms	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0012469	HP:0012469	Infantile spasms	0	WDR45 CL E G H	11152	28912	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent	51
HP:0012469	HP:0012469	Infantile spasms	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	1

Genes (126) :ACTL6B ADGRG1 ALG13 ALG14 ALG2 APC2 ARFGEF1 ARX ASAH1 ATP2B1 ATP6 BTD CASK CDC40 CDH2 CDK19 CDKL5 CEP85L CLCN4 CNPY3 CUL3 D2HGDH DCX DEPDC5 DHX16 DHX37 DMXL2 DOCK7 DOLK EEF1A2 ERCC5 FBLN1 FBXO28 GABBR2 GABRB3 GCDH GNAO1 GNB1 GRIN1 GRIN2B GRM7 GUF1 HDAC4 HIBCH HK1 IFNG KCNA1 KCNB1 KCNQ5 KDM4B KIF1A LONP1 MACF1 MAPK1 MECP2 MGAT2 MMACHC NACC1 NAXD ND1 ND2 ND3 ND4 ND5 ND6 NDUFAF8 NEUROD2 NEXMIF NGLY1 NPRL2 NPRL3 NTNG1 NTRK2 OGDHL PAFAH1B1 PDHA1 PHACTR1 PI4KA PIGA PIGP PIGQ PLCB1 PNKP PPIL1 PTPN23 RALGAPA1 RNF13 RUSC2 SCN1B SCN2A SEPSECS SIK1 SLC19A3 SLC1A4 SLC25A10 SLC25A22 SLC35A2 SMC1A SPATA5 SPATA5L1 SPTAN1 SPTBN1 SRPX2 ST3GAL3 STRADA TANGO2 TRIM8 TRNK TRNL1 TRNV TRNW TSC1 TSC2 TSEN15 TSEN2 TSEN34 TSEN54 TUBA1A TUBA8 TUBB2B TUBB3 TUBG1 UFSP2 VPS53 WDR45 ZNHIT3

Diseases (91) :OMIM:618470 ORPHA:98889 ORPHA:324422 OMIM:300884 OMIM:619031 ORPHA:79326 OMIM:607906 OMIM:618677 OMIM:619964 OMIM:308350 ORPHA:1934 ORPHA:3451 OMIM:309510 ORPHA:333 OMIM:619910 ORPHA:255210 ORPHA:79241 OMIM:619302 OMIM:618929 OMIM:618916 ORPHA:3095 ORPHA:505652 OMIM:300672 ORPHA:572013 ORPHA:485350 OMIM:619239 OMIM:600721 ORPHA:2148 ORPHA:98820 OMIM:618733 OMIM:618731 OMIM:618663 ORPHA:411986 ORPHA:91131 OMIM:616393 OMIM:278780 ORPHA:404451 OMIM:619777 OMIM:617904 OMIM:617113 ORPHA:25 OMIM:616973 ORPHA:208447 OMIM:616139 OMIM:619797 ORPHA:88639 OMIM:618547 ORPHA:805 OMIM:613254 OMIM:616056 OMIM:617601 OMIM:619320 ORPHA:2836 ORPHA:79243 OMIM:618325 OMIM:619087 ORPHA:79329 ORPHA:79282 OMIM:617393 OMIM:618321 OMIM:618776 OMIM:618374 OMIM:300912 ORPHA:404454 OMIM:619701 ORPHA:95232 OMIM:619301 OMIM:618890 OMIM:618797 ORPHA:544503 OMIM:617773 ORPHA:2524 ORPHA:1935 ORPHA:263410 ORPHA:447997 OMIM:618972 ORPHA:356961 OMIM:301044 ORPHA:457351 OMIM:619616 OMIM:619475 ORPHA:500533 ORPHA:480864 OMIM:619428 OMIM:191100 ORPHA:171680 ORPHA:467166 ORPHA:250972 OMIM:615412 OMIM:620028 OMIM:615851

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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