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:
Abnormal cortical gyration (HP:0002536)

Parent Node:
Lissencephaly (HP:0001339)

..Starting node
..Pachygyria (HP:0001302)

Term ID:

1302

Name:

Pachygyria

Synonym:

Cerebral pachygyria; Fewer and broader ridges in brain

Definition:

Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.

Comments:

Reference:

HP:0001302

Genes and Diseases:

Child Nodes:

Sister Nodes:

4-layered lissencephaly (HP:0006818)

Agyria (HP:0031882)

Focal lissencephaly (HP:0007187)

Microlissencephaly (HP:0045028)

Type II lissencephaly (HP:0007260)

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:0001302	HP:0001302	Pachygyria	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	72
HP:0001302	HP:0001302	Pachygyria	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.	72
HP:0001302	HP:0001302	Pachygyria	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	123
HP:0001302	HP:0001302	Pachygyria	0	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2	.	123
HP:0001302	HP:0001302	Pachygyria	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	1
HP:0001302	HP:0001302	Pachygyria	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0001302	HP:0001302	Pachygyria	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional	19
HP:0001302	HP:0001302	Pachygyria	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0001302	HP:0001302	Pachygyria	0	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	3
HP:0001302	HP:0001302	Pachygyria	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.	147
HP:0001302	HP:0001302	Pachygyria	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0001302	HP:0001302	Pachygyria	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.	166
HP:0001302	HP:0001302	Pachygyria	0	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia	HP:0040281 - Very frequent	166
HP:0001302	HP:0001302	Pachygyria	0	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	512
HP:0001302	HP:0001302	Pachygyria	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	140
HP:0001302	HP:0001302	Pachygyria	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0001302	HP:0001302	Pachygyria	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	3
HP:0001302	HP:0001302	Pachygyria	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	2
HP:0001302	HP:0001302	Pachygyria	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0001302	HP:0001302	Pachygyria	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	43
HP:0001302	HP:0001302	Pachygyria	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	17
HP:0001302	HP:0001302	Pachygyria	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	118
HP:0001302	HP:0001302	Pachygyria	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0001302	HP:0001302	Pachygyria	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	147
HP:0001302	HP:0001302	Pachygyria	0	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.	1
HP:0001302	HP:0001302	Pachygyria	0	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	181
HP:0001302	HP:0001302	Pachygyria	0	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	6
HP:0001302	HP:0001302	Pachygyria	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	405
HP:0001302	HP:0001302	Pachygyria	0	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	161
HP:0001302	HP:0001302	Pachygyria	0	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	38
HP:0001302	HP:0001302	Pachygyria	0	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	146
HP:0001302	HP:0001302	Pachygyria	0	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	31
HP:0001302	HP:0001302	Pachygyria	0	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10		1
HP:0001302	HP:0001302	Pachygyria	0	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		1
HP:0001302	HP:0001302	Pachygyria	0	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	15
HP:0001302	HP:0001302	Pachygyria	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	193
HP:0001302	HP:0001302	Pachygyria	0	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0001302	HP:0001302	Pachygyria	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040283 - Occasional	101
HP:0001302	HP:0001302	Pachygyria	0	CRADD CL E G H	8738	2340	OMIM:614499	Mental retardation, autosomal recessive 34, with variant lissencephaly	.	6
HP:0001302	HP:0001302	Pachygyria	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040284 - Very rare
HP:0001302	HP:0001302	Pachygyria	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0001302	HP:0001302	Pachygyria	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0001302	HP:0001302	Pachygyria	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	HP:0040283 - Occasional	12
HP:0001302	HP:0001302	Pachygyria	0	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9	.	2
HP:0001302	HP:0001302	Pachygyria	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	108
HP:0001302	HP:0001302	Pachygyria	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0001302	HP:0001302	Pachygyria	0	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040282 - Frequent	145
HP:0001302	HP:0001302	Pachygyria	0	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1	.	145
HP:0001302	HP:0001302	Pachygyria	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040283 - Occasional	72
HP:0001302	HP:0001302	Pachygyria	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0001302	HP:0001302	Pachygyria	0	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13	.	427
HP:0001302	HP:0001302	Pachygyria	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	37
HP:0001302	HP:0001302	Pachygyria	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	27
HP:0001302	HP:0001302	Pachygyria	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	77
HP:0001302	HP:0001302	Pachygyria	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0001302	HP:0001302	Pachygyria	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	114
HP:0001302	HP:0001302	Pachygyria	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0001302	HP:0001302	Pachygyria	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0001302	HP:0001302	Pachygyria	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0001302	HP:0001302	Pachygyria	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040284 - Very rare	157
HP:0001302	HP:0001302	Pachygyria	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	157
HP:0001302	HP:0001302	Pachygyria	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.	157
HP:0001302	HP:0001302	Pachygyria	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	HP:0040283 - Occasional	157
HP:0001302	HP:0001302	Pachygyria	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	157
HP:0001302	HP:0001302	Pachygyria	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040284 - Very rare	184
HP:0001302	HP:0001302	Pachygyria	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	184
HP:0001302	HP:0001302	Pachygyria	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.	184
HP:0001302	HP:0001302	Pachygyria	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	184
HP:0001302	HP:0001302	Pachygyria	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional	8
HP:0001302	HP:0001302	Pachygyria	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0001302	HP:0001302	Pachygyria	0	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0001302	HP:0001302	Pachygyria	0	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	HP:0040284 - Very rare	43
HP:0001302	HP:0001302	Pachygyria	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	36
HP:0001302	HP:0001302	Pachygyria	0	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type	HP:0040283 - Occasional	3
HP:0001302	HP:0001302	Pachygyria	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0001302	HP:0001302	Pachygyria	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0001302	HP:0001302	Pachygyria	0	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5	HP:0040284 - Very rare	1
HP:0001302	HP:0001302	Pachygyria	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0001302	HP:0001302	Pachygyria	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	145
HP:0001302	HP:0001302	Pachygyria	0	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	9
HP:0001302	HP:0001302	Pachygyria	0	KIF2A CL E G H	3796	6318	OMIM:615411	Cortical dysplasia, complex, with other brain malformations 3	.	15
HP:0001302	HP:0001302	Pachygyria	0	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome	HP:0040283 - Occasional
HP:0001302	HP:0001302	Pachygyria	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0001302	HP:0001302	Pachygyria	0	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	112
HP:0001302	HP:0001302	Pachygyria	0	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0001302	HP:0001302	Pachygyria	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040283 - Occasional	411
HP:0001302	HP:0001302	Pachygyria	0	LAMC3 CL E G H	10319	6494	OMIM:614115	Cortical malformations, occipital	.	114
HP:0001302	HP:0001302	Pachygyria	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	136
HP:0001302	HP:0001302	Pachygyria	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.	136
HP:0001302	HP:0001302	Pachygyria	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	136
HP:0001302	HP:0001302	Pachygyria	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0001302	HP:0001302	Pachygyria	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation	.	2
HP:0001302	HP:0001302	Pachygyria	0	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		2
HP:0001302	HP:0001302	Pachygyria	0	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0001302	HP:0001302	Pachygyria	0	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	155
HP:0001302	HP:0001302	Pachygyria	0	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0001302	HP:0001302	Pachygyria	0	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	5
HP:0001302	HP:0001302	Pachygyria	0	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency	HP:0040283 - Occasional	80
HP:0001302	HP:0001302	Pachygyria	0	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional	68
HP:0001302	HP:0001302	Pachygyria	0	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0001302	HP:0001302	Pachygyria	0	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	1
HP:0001302	HP:0001302	Pachygyria	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.	96
HP:0001302	HP:0001302	Pachygyria	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	HP:0040283 - Occasional	101
HP:0001302	HP:0001302	Pachygyria	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional
HP:0001302	HP:0001302	Pachygyria	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0001302	HP:0001302	Pachygyria	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent	34
HP:0001302	HP:0001302	Pachygyria	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.	34
HP:0001302	HP:0001302	Pachygyria	0	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent	5
HP:0001302	HP:0001302	Pachygyria	0	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent	1
HP:0001302	HP:0001302	Pachygyria	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.	23
HP:0001302	HP:0001302	Pachygyria	0	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0001302	HP:0001302	Pachygyria	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0001302	HP:0001302	Pachygyria	0	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1	.	231
HP:0001302	HP:0001302	Pachygyria	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040282 - Frequent	231
HP:0001302	HP:0001302	Pachygyria	0	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency	HP:0040283 - Occasional	37
HP:0001302	HP:0001302	Pachygyria	0	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)	.	75
HP:0001302	HP:0001302	Pachygyria	0	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	16
HP:0001302	HP:0001302	Pachygyria	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0001302	HP:0001302	Pachygyria	0	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0001302	HP:0001302	Pachygyria	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0001302	HP:0001302	Pachygyria	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0001302	HP:0001302	Pachygyria	0	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional	162
HP:0001302	HP:0001302	Pachygyria	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.	12
HP:0001302	HP:0001302	Pachygyria	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	244
HP:0001302	HP:0001302	Pachygyria	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.	180
HP:0001302	HP:0001302	Pachygyria	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	180
HP:0001302	HP:0001302	Pachygyria	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	33
HP:0001302	HP:0001302	Pachygyria	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	18
HP:0001302	HP:0001302	Pachygyria	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040284 - Very rare	213
HP:0001302	HP:0001302	Pachygyria	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	213
HP:0001302	HP:0001302	Pachygyria	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	213
HP:0001302	HP:0001302	Pachygyria	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	221
HP:0001302	HP:0001302	Pachygyria	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	.	221
HP:0001302	HP:0001302	Pachygyria	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	221
HP:0001302	HP:0001302	Pachygyria	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0001302	HP:0001302	Pachygyria	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional	42
HP:0001302	HP:0001302	Pachygyria	0	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	11
HP:0001302	HP:0001302	Pachygyria	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	85
HP:0001302	HP:0001302	Pachygyria	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	90
HP:0001302	HP:0001302	Pachygyria	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	135
HP:0001302	HP:0001302	Pachygyria	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.	26
HP:0001302	HP:0001302	Pachygyria	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0001302	HP:0001302	Pachygyria	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0001302	HP:0001302	Pachygyria	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0001302	HP:0001302	Pachygyria	0	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	4
HP:0001302	HP:0001302	Pachygyria	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	126
HP:0001302	HP:0001302	Pachygyria	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	427
HP:0001302	HP:0001302	Pachygyria	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	11
HP:0001302	HP:0001302	Pachygyria	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0001302	HP:0001302	Pachygyria	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0001302	HP:0001302	Pachygyria	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040282 - Frequent	94
HP:0001302	HP:0001302	Pachygyria	0	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0001302	HP:0001302	Pachygyria	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0001302	HP:0001302	Pachygyria	0	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	99
HP:0001302	HP:0001302	Pachygyria	0	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	2
HP:0001302	HP:0001302	Pachygyria	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	15
HP:0001302	HP:0001302	Pachygyria	0	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay	HP:0040284 - Very rare	1
HP:0001302	HP:0001302	Pachygyria	0	TCTN1 CL E G H	79600	26113	OMIM:614173	Joubert syndrome 13	.	45
HP:0001302	HP:0001302	Pachygyria	0	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24	.	76
HP:0001302	HP:0001302	Pachygyria	0	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS		2
HP:0001302	HP:0001302	Pachygyria	0	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0001302	HP:0001302	Pachygyria	0	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0001302	HP:0001302	Pachygyria	0	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5	.
HP:0001302	HP:0001302	Pachygyria	0	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	1
HP:0001302	HP:0001302	Pachygyria	0	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0001302	HP:0001302	Pachygyria	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0001302	HP:0001302	Pachygyria	0	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3	.	106
HP:0001302	HP:0001302	Pachygyria	0	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0001302	HP:0001302	Pachygyria	0	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria		106
HP:0001302	HP:0001302	Pachygyria	0	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7	.	39
HP:0001302	HP:0001302	Pachygyria	0	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation	HP:0040283 - Occasional	39
HP:0001302	HP:0001302	Pachygyria	0	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria		39
HP:0001302	HP:0001302	Pachygyria	0	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria		64
HP:0001302	HP:0001302	Pachygyria	0	TUBG1 CL E G H	7283	12417	OMIM:615412	Cortical dysplasia, complex, with other brain malformations 4	.	14
HP:0001302	HP:0001302	Pachygyria	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0001302	HP:0001302	Pachygyria	0	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1	.	61
HP:0001302	HP:0001302	Pachygyria	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0001302	HP:0001302	Pachygyria	0	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	.	111
HP:0001302	HP:0001302	Pachygyria	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional	8
HP:0001302	HP:0001302	Pachygyria	0	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0001302	HP:0001302	Pachygyria	0	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	224
HP:0001302	HP:0001302	Pachygyria	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	.	224
HP:0001302	HP:0001302	Pachygyria	0	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent	14
HP:0001302	HP:0001302	Pachygyria	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14
HP:0001302	HP:0001302	Pachygyria	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome	.	1
HP:0001302	HP:0020192	Pachygyria with 5-10 mm cortical thickness	1	CL E G H
HP:0001302	HP:0020187	Thick pachygyria	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0001302	HP:0020187	Thick pachygyria	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation		231
HP:0001302	HP:0020187	Thick pachygyria	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0001302	HP:0020187	Thick pachygyria	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0001302	HP:0020188	Anterior predominant pachygyria with 5-10 mm cortical thickness	2	CL E G H
HP:0001302	HP:0020190	Perisylvian predominant thick cortex pachygyria	2	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	88
HP:0001302	HP:0020191	Anterior predominant thick cortex pachygyria	2	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040282 - Frequent	231
HP:0001302	HP:0020189	Posterior predominant thick cortex pachygyria	2	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040283 - Occasional	231
HP:0001302	HP:0020190	Perisylvian predominant thick cortex pachygyria	2	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	11
HP:0001302	HP:0020190	Perisylvian predominant thick cortex pachygyria	2	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	50

Genes (147) :ACTB ACTG1 ADAMTS3 ADGRG1 AKT3 ALG12 ANKLE2 ARHGAP31 ARX ASPM ATP6V0A2 ATP6V1A ATP6V1E1 ATR B3GALNT2 B4GAT1 CASK CCBE1 CCDC88A CDK5RAP2 CDK6 CDKL5 CENPJ CEP135 CEP152 CEP63 CEP85L CIT COL4A1 COPB2 CPT2 CRADD CRPPA CSNK2A1 CTNNA2 DAG1 DCHS1 DCX DHCR24 DMXL2 DYNC1H1 ETFA ETFB ETFDH EXOSC5 FAT4 FBXO28 FIG4 FKRP FKTN FLI1 FOXG1 FRMD5 GFM2 GNAO1 GPX4 GRIN1 GRM7 ISCA1 KATNB1 KCNA1 KIF14 KIF2A KIFBP KNL1 LAGE3 LAMA2 LAMC3 LARGE1 LMNB1 MACF1 MCM7 MCPH1 METTL5 MFSD2A MLYCD MTOR NARS1 NCAPD3 NDE1 NEK1 NEUROD2 NFIX NSDHL NUP107 NUP133 OCLN OSGEP PAFAH1B1 PDHB PEX10 PHC1 PI4KA PIDD1 PIGP PIGQ PIK3CA PIK3R2 PNKP POMGNT1 POMGNT2 POMK POMT1 POMT2 PPFIBP1 PRKDC PYCR2 RAB18 RAB3GAP1 RAB3GAP2 RMND1 RNU4ATAC RTTN RXYLT1 SASS6 SCN1B SCN2A SIK1 SLC25A22 SLC30A9 SNAP29 SRPX2 STIL TAF13 TBC1D20 TBR1 TCTN1 TCTN2 TMX2 TP53RK TPRKB TRAPPC10 TRAPPC14 TRIM8 TUBA1A TUBB2B TUBB3 TUBG1 TUBGCP2 TUBGCP6 VAC14 VLDLR WDR26 WDR4 WDR62 WDR73 ZNHIT3

Diseases (100) :ORPHA:2995 OMIM:243310 OMIM:614583 ORPHA:2136 ORPHA:98889 ORPHA:99802 ORPHA:79324 ORPHA:2512 OMIM:100300 ORPHA:1934 OMIM:300215 ORPHA:452 ORPHA:357074 OMIM:219200 OMIM:210600 ORPHA:899 OMIM:235510 OMIM:617507 OMIM:618873 ORPHA:572013 ORPHA:228308 OMIM:614499 ORPHA:370980 OMIM:614643 OMIM:617062 OMIM:618174 OMIM:601390 ORPHA:2148 OMIM:300067 ORPHA:35107 OMIM:614563 OMIM:231680 OMIM:619576 OMIM:619777 OMIM:216340 ORPHA:3472 OMIM:236670 OMIM:613153 OMIM:606612 OMIM:253800 ORPHA:2308 OMIM:613454 OMIM:620094 OMIM:618397 ORPHA:93317 OMIM:617613 OMIM:616212 OMIM:615411 ORPHA:66629 OMIM:609460 ORPHA:2065 ORPHA:258 OMIM:614115 OMIM:608840 OMIM:619179 OMIM:618325 OMIM:248360 OMIM:619091 OMIM:605013 OMIM:263520 OMIM:602535 ORPHA:251383 OMIM:300831 OMIM:251290 OMIM:617729 OMIM:607432 ORPHA:95232 ORPHA:255138 OMIM:614870 OMIM:619827 OMIM:603387 OMIM:253280 OMIM:613150 OMIM:620024 OMIM:615966 ORPHA:2510 OMIM:614922 OMIM:210710 ORPHA:468631 OMIM:617595 ORPHA:66631 OMIM:609528 OMIM:606053 OMIM:614173 OMIM:616654 OMIM:618730 OMIM:617731 OMIM:611603 ORPHA:171680 ORPHA:467166 OMIM:610031 ORPHA:300573 OMIM:615412 OMIM:618737 OMIM:251270 OMIM:224050 ORPHA:513456 OMIM:604317 OMIM:251300 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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