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:
Abnormal cerebral cortex morphology (HP:0002538)

Grandparent Node:
Abnormality of neuronal migration (HP:0002269)

Parent Node:
Abnormal cortical gyration (HP:0002536)

..Starting node
..Polymicrogyria (HP:0002126)

Term ID:

2126

Name:

Polymicrogyria

Synonym:

More grooves in brain

Definition:

Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).

Comments:

Reference:

HP:0002126

Genes and Diseases:

Child Nodes:

........

Polymicrogyria, anterior to posterior gradient (HP:0006821)

........

Unilateral polymicrogyria (HP:0006927)

........

Frontoparietal polymicrogyria (HP:0007095)

........

Perisylvian polymicrogyria (HP:0012650)

Sister Nodes:

Lissencephaly (HP:0001339)

Macrogyria (HP:0007227)

Simplified gyral pattern (HP:0009879)

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:0002126	HP:0002126	Polymicrogyria	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	72
HP:0002126	HP:0002126	Polymicrogyria	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	123
HP:0002126	HP:0002126	Polymicrogyria	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0002126	HP:0002126	Polymicrogyria	0	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal		88
HP:0002126	HP:0002126	Polymicrogyria	0	ADGRG1 CL E G H	9289	4512	OMIM:615752	POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR		88
HP:0002126	HP:0002126	Polymicrogyria	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	175
HP:0002126	HP:0002126	Polymicrogyria	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0002126	HP:0002126	Polymicrogyria	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	175
HP:0002126	HP:0002126	Polymicrogyria	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	19
HP:0002126	HP:0002126	Polymicrogyria	0	AKT3 CL E G H	10000	393	OMIM:615937	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2	.	19
HP:0002126	HP:0002126	Polymicrogyria	0	AKT3 CL E G H	10000	393	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040281 - Very frequent	19
HP:0002126	HP:0002126	Polymicrogyria	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.	147
HP:0002126	HP:0002126	Polymicrogyria	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	62
HP:0002126	HP:0002126	Polymicrogyria	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	1
HP:0002126	HP:0002126	Polymicrogyria	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0002126	HP:0002126	Polymicrogyria	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0002126	HP:0002126	Polymicrogyria	0	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0002126	HP:0002126	Polymicrogyria	0	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD		239
HP:0002126	HP:0002126	Polymicrogyria	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0002126	HP:0002126	Polymicrogyria	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	140
HP:0002126	HP:0002126	Polymicrogyria	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0002126	HP:0002126	Polymicrogyria	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	3
HP:0002126	HP:0002126	Polymicrogyria	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	5
HP:0002126	HP:0002126	Polymicrogyria	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	2
HP:0002126	HP:0002126	Polymicrogyria	0	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11	.	43
HP:0002126	HP:0002126	Polymicrogyria	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	43
HP:0002126	HP:0002126	Polymicrogyria	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	17
HP:0002126	HP:0002126	Polymicrogyria	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	28
HP:0002126	HP:0002126	Polymicrogyria	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	34
HP:0002126	HP:0002126	Polymicrogyria	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	HP:0040284 - Very rare	46
HP:0002126	HP:0002126	Polymicrogyria	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0002126	HP:0002126	Polymicrogyria	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0002126	HP:0002126	Polymicrogyria	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	1
HP:0002126	HP:0002126	Polymicrogyria	0	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.	1
HP:0002126	HP:0002126	Polymicrogyria	0	CCND2 CL E G H	894	1583	OMIM:615938	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3	.	11
HP:0002126	HP:0002126	Polymicrogyria	0	CCND2 CL E G H	894	1583	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040281 - Very frequent	11
HP:0002126	HP:0002126	Polymicrogyria	0	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly		200
HP:0002126	HP:0002126	Polymicrogyria	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	5
HP:0002126	HP:0002126	Polymicrogyria	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	7
HP:0002126	HP:0002126	Polymicrogyria	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	7
HP:0002126	HP:0002126	Polymicrogyria	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	90
HP:0002126	HP:0002126	Polymicrogyria	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	90
HP:0002126	HP:0002126	Polymicrogyria	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0002126	HP:0002126	Polymicrogyria	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1	.	177
HP:0002126	HP:0002126	Polymicrogyria	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	.	749
HP:0002126	HP:0002126	Polymicrogyria	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	193
HP:0002126	HP:0002126	Polymicrogyria	0	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2		147
HP:0002126	HP:0002126	Polymicrogyria	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0002126	HP:0002126	Polymicrogyria	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002126	HP:0002126	Polymicrogyria	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040283 - Occasional	101
HP:0002126	HP:0002126	Polymicrogyria	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0002126	HP:0002126	Polymicrogyria	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0002126	HP:0002126	Polymicrogyria	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0002126	HP:0002126	Polymicrogyria	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	57
HP:0002126	HP:0002126	Polymicrogyria	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	HP:0040283 - Occasional	38
HP:0002126	HP:0002126	Polymicrogyria	0	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	HP:0040282 - Frequent	108
HP:0002126	HP:0002126	Polymicrogyria	0	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	.	108
HP:0002126	HP:0002126	Polymicrogyria	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	108
HP:0002126	HP:0002126	Polymicrogyria	0	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040284 - Very rare	172
HP:0002126	HP:0002126	Polymicrogyria	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040283 - Occasional	72
HP:0002126	HP:0002126	Polymicrogyria	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:0002126	HP:0002126	Polymicrogyria	0	DISC1 CL E G H	27185	2888	ORPHA:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome	HP:0040282 - Frequent	2
HP:0002126	HP:0002126	Polymicrogyria	0	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly		22
HP:0002126	HP:0002126	Polymicrogyria	0	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly		3
HP:0002126	HP:0002126	Polymicrogyria	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	HP:0040283 - Occasional	18
HP:0002126	HP:0002126	Polymicrogyria	0	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13		427
HP:0002126	HP:0002126	Polymicrogyria	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002126	HP:0002126	Polymicrogyria	0	EML1 CL E G H	2009	3330	OMIM:600348	Band heterotopia	.	3
HP:0002126	HP:0002126	Polymicrogyria	0	EOMES CL E G H	8320	3372	ORPHA:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome	HP:0040282 - Frequent	7
HP:0002126	HP:0002126	Polymicrogyria	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.	20
HP:0002126	HP:0002126	Polymicrogyria	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent	36
HP:0002126	HP:0002126	Polymicrogyria	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002126	HP:0002126	Polymicrogyria	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0002126	HP:0002126	Polymicrogyria	0	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly		17
HP:0002126	HP:0002126	Polymicrogyria	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.	301
HP:0002126	HP:0002126	Polymicrogyria	0	FIG4 CL E G H	9896	16873	OMIM:612691	Polymicrogyria, bilateral temporooccipital	.	111
HP:0002126	HP:0002126	Polymicrogyria	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	157
HP:0002126	HP:0002126	Polymicrogyria	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	157
HP:0002126	HP:0002126	Polymicrogyria	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	157
HP:0002126	HP:0002126	Polymicrogyria	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	184
HP:0002126	HP:0002126	Polymicrogyria	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.	184
HP:0002126	HP:0002126	Polymicrogyria	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	184
HP:0002126	HP:0002126	Polymicrogyria	0	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly		48
HP:0002126	HP:0002126	Polymicrogyria	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional	3
HP:0002126	HP:0002126	Polymicrogyria	0	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly		2
HP:0002126	HP:0002126	Polymicrogyria	0	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly		173
HP:0002126	HP:0002126	Polymicrogyria	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	34
HP:0002126	HP:0002126	Polymicrogyria	0	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	HP:0040284 - Very rare	12
HP:0002126	HP:0002126	Polymicrogyria	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0002126	HP:0002126	Polymicrogyria	0	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C	.	18
HP:0002126	HP:0002126	Polymicrogyria	0	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS		74
HP:0002126	HP:0002126	Polymicrogyria	0	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	HP:0040284 - Very rare	108
HP:0002126	HP:0002126	Polymicrogyria	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0002126	HP:0002126	Polymicrogyria	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	31
HP:0002126	HP:0002126	Polymicrogyria	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.	16
HP:0002126	HP:0002126	Polymicrogyria	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	111
HP:0002126	HP:0002126	Polymicrogyria	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	111
HP:0002126	HP:0002126	Polymicrogyria	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0002126	HP:0002126	Polymicrogyria	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly	.	10
HP:0002126	HP:0002126	Polymicrogyria	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0002126	HP:0002126	Polymicrogyria	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	24
HP:0002126	HP:0002126	Polymicrogyria	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.	24
HP:0002126	HP:0002126	Polymicrogyria	0	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2		18
HP:0002126	HP:0002126	Polymicrogyria	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0002126	HP:0002126	Polymicrogyria	0	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103		3
HP:0002126	HP:0002126	Polymicrogyria	0	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked	.
HP:0002126	HP:0002126	Polymicrogyria	0	LAMC3 CL E G H	10319	6494	OMIM:614115	Cortical malformations, occipital	.	114
HP:0002126	HP:0002126	Polymicrogyria	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	136
HP:0002126	HP:0002126	Polymicrogyria	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	136
HP:0002126	HP:0002126	Polymicrogyria	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	8
HP:0002126	HP:0002126	Polymicrogyria	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		63
HP:0002126	HP:0002126	Polymicrogyria	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		63
HP:0002126	HP:0002126	Polymicrogyria	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		63
HP:0002126	HP:0002126	Polymicrogyria	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0002126	HP:0002126	Polymicrogyria	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0002126	HP:0002126	Polymicrogyria	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0002126	HP:0002126	Polymicrogyria	0	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57	.	5
HP:0002126	HP:0002126	Polymicrogyria	0	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations	.	950
HP:0002126	HP:0002126	Polymicrogyria	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0002126	HP:0002126	Polymicrogyria	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	127
HP:0002126	HP:0002126	Polymicrogyria	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	127
HP:0002126	HP:0002126	Polymicrogyria	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID		1
HP:0002126	HP:0002126	Polymicrogyria	0	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	68
HP:0002126	HP:0002126	Polymicrogyria	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040283 - Occasional	68
HP:0002126	HP:0002126	Polymicrogyria	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0002126	HP:0002126	Polymicrogyria	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0002126	HP:0002126	Polymicrogyria	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0002126	HP:0002126	Polymicrogyria	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0002126	HP:0002126	Polymicrogyria	0	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly		45
HP:0002126	HP:0002126	Polymicrogyria	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional	85
HP:0002126	HP:0002126	Polymicrogyria	0	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040284 - Very rare	4
HP:0002126	HP:0002126	Polymicrogyria	0	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040284 - Very rare	7
HP:0002126	HP:0002126	Polymicrogyria	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.	34
HP:0002126	HP:0002126	Polymicrogyria	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent	34
HP:0002126	HP:0002126	Polymicrogyria	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		121
HP:0002126	HP:0002126	Polymicrogyria	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		121
HP:0002126	HP:0002126	Polymicrogyria	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		121
HP:0002126	HP:0002126	Polymicrogyria	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.	23
HP:0002126	HP:0002126	Polymicrogyria	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0002126	HP:0002126	Polymicrogyria	0	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia	.	194
HP:0002126	HP:0002126	Polymicrogyria	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	88
HP:0002126	HP:0002126	Polymicrogyria	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0002126	HP:0002126	Polymicrogyria	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	169
HP:0002126	HP:0002126	Polymicrogyria	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	75
HP:0002126	HP:0002126	Polymicrogyria	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	4
HP:0002126	HP:0002126	Polymicrogyria	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	65
HP:0002126	HP:0002126	Polymicrogyria	0	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)	.	66
HP:0002126	HP:0002126	Polymicrogyria	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	66
HP:0002126	HP:0002126	Polymicrogyria	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	46
HP:0002126	HP:0002126	Polymicrogyria	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	59
HP:0002126	HP:0002126	Polymicrogyria	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	62
HP:0002126	HP:0002126	Polymicrogyria	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0002126	HP:0002126	Polymicrogyria	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	82
HP:0002126	HP:0002126	Polymicrogyria	0	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0002126	HP:0002126	Polymicrogyria	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	106
HP:0002126	HP:0002126	Polymicrogyria	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	47
HP:0002126	HP:0002126	Polymicrogyria	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	99
HP:0002126	HP:0002126	Polymicrogyria	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	98
HP:0002126	HP:0002126	Polymicrogyria	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0002126	HP:0002126	Polymicrogyria	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0002126	HP:0002126	Polymicrogyria	0	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	.	11
HP:0002126	HP:0002126	Polymicrogyria	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	4
HP:0002126	HP:0002126	Polymicrogyria	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0002126	HP:0002126	Polymicrogyria	0	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	162
HP:0002126	HP:0002126	Polymicrogyria	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040283 - Occasional	162
HP:0002126	HP:0002126	Polymicrogyria	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.	162
HP:0002126	HP:0002126	Polymicrogyria	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.	12
HP:0002126	HP:0002126	Polymicrogyria	0	PIK3R2 CL E G H	5296	8980	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040281 - Very frequent	12
HP:0002126	HP:0002126	Polymicrogyria	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0002126	HP:0002126	Polymicrogyria	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	180
HP:0002126	HP:0002126	Polymicrogyria	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.	180
HP:0002126	HP:0002126	Polymicrogyria	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	180
HP:0002126	HP:0002126	Polymicrogyria	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	33
HP:0002126	HP:0002126	Polymicrogyria	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	18
HP:0002126	HP:0002126	Polymicrogyria	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	18
HP:0002126	HP:0002126	Polymicrogyria	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	213
HP:0002126	HP:0002126	Polymicrogyria	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	213
HP:0002126	HP:0002126	Polymicrogyria	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	213
HP:0002126	HP:0002126	Polymicrogyria	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	221
HP:0002126	HP:0002126	Polymicrogyria	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	221
HP:0002126	HP:0002126	Polymicrogyria	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	221
HP:0002126	HP:0002126	Polymicrogyria	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0002126	HP:0002126	Polymicrogyria	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0002126	HP:0002126	Polymicrogyria	0	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly		665
HP:0002126	HP:0002126	Polymicrogyria	0	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease	HP:0040281 - Very frequent	948
HP:0002126	HP:0002126	Polymicrogyria	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0002126	HP:0002126	Polymicrogyria	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0002126	HP:0002126	Polymicrogyria	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.	135
HP:0002126	HP:0002126	Polymicrogyria	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0002126	HP:0002126	Polymicrogyria	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional	3
HP:0002126	HP:0002126	Polymicrogyria	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0002126	HP:0002126	Polymicrogyria	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0002126	HP:0002126	Polymicrogyria	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional	167
HP:0002126	HP:0002126	Polymicrogyria	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040282 - Frequent	113
HP:0002126	HP:0002126	Polymicrogyria	0	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures		113
HP:0002126	HP:0002126	Polymicrogyria	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0002126	HP:0002126	Polymicrogyria	0	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62		70
HP:0002126	HP:0002126	Polymicrogyria	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0002126	HP:0002126	Polymicrogyria	0	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly		67
HP:0002126	HP:0002126	Polymicrogyria	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0002126	HP:0002126	Polymicrogyria	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0002126	HP:0002126	Polymicrogyria	0	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly		32
HP:0002126	HP:0002126	Polymicrogyria	0	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0002126	HP:0002126	Polymicrogyria	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome	HP:0040283 - Occasional	22
HP:0002126	HP:0002126	Polymicrogyria	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040282 - Frequent	94
HP:0002126	HP:0002126	Polymicrogyria	0	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0002126	HP:0002126	Polymicrogyria	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		37
HP:0002126	HP:0002126	Polymicrogyria	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		37
HP:0002126	HP:0002126	Polymicrogyria	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		37
HP:0002126	HP:0002126	Polymicrogyria	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0002126	HP:0002126	Polymicrogyria	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	.	80
HP:0002126	HP:0002126	Polymicrogyria	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0002126	HP:0002126	Polymicrogyria	0	SRPX2 CL E G H	27286	30668	OMIM:300643	Rolandic epilepsy, mental retardation, and speech dyspraxia		50
HP:0002126	HP:0002126	Polymicrogyria	0	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly		99
HP:0002126	HP:0002126	Polymicrogyria	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	124
HP:0002126	HP:0002126	Polymicrogyria	0	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32	HP:0040284 - Very rare	124
HP:0002126	HP:0002126	Polymicrogyria	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0002126	HP:0002126	Polymicrogyria	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0002126	HP:0002126	Polymicrogyria	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	271
HP:0002126	HP:0002126	Polymicrogyria	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	45
HP:0002126	HP:0002126	Polymicrogyria	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	76
HP:0002126	HP:0002126	Polymicrogyria	0	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24	.	76
HP:0002126	HP:0002126	Polymicrogyria	0	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly		1
HP:0002126	HP:0002126	Polymicrogyria	0	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly		32
HP:0002126	HP:0002126	Polymicrogyria	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0002126	HP:0002126	Polymicrogyria	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	82
HP:0002126	HP:0002126	Polymicrogyria	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional	82
HP:0002126	HP:0002126	Polymicrogyria	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	166
HP:0002126	HP:0002126	Polymicrogyria	0	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8	.	5
HP:0002126	HP:0002126	Polymicrogyria	0	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS		2
HP:0002126	HP:0002126	Polymicrogyria	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0002126	HP:0002126	Polymicrogyria	0	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4	.
HP:0002126	HP:0002126	Polymicrogyria	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0002126	HP:0002126	Polymicrogyria	0	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3	.	106
HP:0002126	HP:0002126	Polymicrogyria	0	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0002126	HP:0002126	Polymicrogyria	0	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia	HP:0040281 - Very frequent	21
HP:0002126	HP:0002126	Polymicrogyria	0	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6	HP:0040283 - Occasional	14
HP:0002126	HP:0002126	Polymicrogyria	0	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7		39
HP:0002126	HP:0002126	Polymicrogyria	0	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation	HP:0040281 - Very frequent	39
HP:0002126	HP:0002126	Polymicrogyria	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent	64
HP:0002126	HP:0002126	Polymicrogyria	0	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1	.	64
HP:0002126	HP:0002126	Polymicrogyria	0	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4		55
HP:0002126	HP:0002126	Polymicrogyria	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2	.	2
HP:0002126	HP:0002126	Polymicrogyria	0	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG		1
HP:0002126	HP:0002126	Polymicrogyria	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	.	224
HP:0002126	HP:0002126	Polymicrogyria	0	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia	.	177
HP:0002126	HP:0002126	Polymicrogyria	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0002126	HP:0002126	Polymicrogyria	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare	362
HP:0002126	HP:0002126	Polymicrogyria	0	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly		34
HP:0002126	HP:0002126	Polymicrogyria	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome	.	1
HP:0002126	HP:0032415	Parasagittal parieto-occipital polymicrogyria	1	CL E G H
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0002126	HP:0025646	Bilateral polymicrogyria	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0002126	HP:0006821	Frontal polymicrogyria	1	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal		88
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal		88
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	ADGRG1 CL E G H	9289	4512	OMIM:615752	POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR		88
HP:0002126	HP:0006821	Frontal polymicrogyria	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	200
HP:0002126	HP:0032471	Focal polymicrogyria	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	22
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	3
HP:0002126	HP:0006821	Frontal polymicrogyria	1	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13		427
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	17
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	48
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	2
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	173
HP:0002126	HP:0032471	Focal polymicrogyria	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	63
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	63
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	63
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	45
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	121
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	121
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	121
HP:0002126	HP:0032471	Focal polymicrogyria	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0002126	HP:0025646	Bilateral polymicrogyria	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis		11
HP:0002126	HP:0006821	Frontal polymicrogyria	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	665
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	67
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0002126	HP:0025646	Bilateral polymicrogyria	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	32
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	37
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	37
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0002126	HP:0025646	Bilateral polymicrogyria	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0002126	HP:0025646	Bilateral polymicrogyria	1	SRPX2 CL E G H	27286	30668	OMIM:300643	Rolandic epilepsy, mental retardation, and speech dyspraxia		50
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	SRPX2 CL E G H	27286	30668	OMIM:300643	Rolandic epilepsy, mental retardation, and speech dyspraxia		50
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	99
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	1
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	32
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0002126	HP:0032471	Focal polymicrogyria	1	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6		14
HP:0002126	HP:0006927	Unilateral polymicrogyria	1	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7	.	39
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation	HP:0040283 - Occasional	39
HP:0002126	HP:0006821	Frontal polymicrogyria	1	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1		64
HP:0002126	HP:0012650	Perisylvian polymicrogyria	1	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	34
HP:0002126	HP:0032410	Bilateral generalized polymicrogyria	2	CL E G H
HP:0002126	HP:0032406	Unilateral perisylvian polymicrogyria	2	CL E G H
HP:0002126	HP:0032407	Bilateral perisylvian polymicrogyria	2	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040281 - Very frequent	88
HP:0002126	HP:0032407	Bilateral perisylvian polymicrogyria	2	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040281 - Very frequent	11
HP:0002126	HP:0032407	Bilateral perisylvian polymicrogyria	2	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040281 - Very frequent	50
HP:0002126	HP:0032407	Bilateral perisylvian polymicrogyria	2	SRPX2 CL E G H	27286	30668	OMIM:300643	Rolandic epilepsy, mental retardation, and speech dyspraxia		50

Genes (186) :ACTB ACTG1 ADGRG1 AHI1 AKT3 ARHGAP31 ARL13B ARL3 ARMC9 ATN1 ATP1A2 ATP1A3 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 B3GALNT2 B4GAT1 B9D1 B9D2 BICD2 BMPER C2CD3 CBY1 CCDC88A CCND2 CDON CEP104 CEP120 CEP41 CILK1 COL18A1 COL3A1 COL4A1 COL4A2 CPLANE1 CPT2 CRPPA CSPP1 CUL4B DAG1 DEPDC5 DHCR24 DHX37 DISC1 DISP1 DLL1 DOCK6 DYNC1H1 EIF2AK2 EML1 EOMES ERCC1 ERMARD FBXO28 FDFT1 FGF8 FH FIG4 FKRP FKTN FOXH1 FUZ GAS1 GLI2 GMPPB GNB1 GPHN GPSM2 GRIN1 HSD17B4 HYLS1 IBA57 INPP5E KAT5 KATNB1 KATNIP KIAA0586 KIF5C KIFBP KLHL15 LAGE3 LAMC3 LARGE1 LONP1 MAGEL2 MAN2C1 MAP1B MAPK8IP3 MBOAT7 MECP2 MICU1 MKS1 MN1 MTOR NDN NODAL NPHP1 NPRL2 NPRL3 NSDHL OCA2 OCLN ODC1 PAX6 PDHA1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PI4KA PIBF1 PIGB PIK3CA PIK3R2 POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 PPFIBP1 PPP1R12A PTCH1 PTEN RAB18 RAB3GAP1 RAB3GAP2 RAC1 RECQL4 RNU4ATAC RPGRIP1L RTTN RXYLT1 SCN3A SF3B4 SHH SHMT2 SIN3A SIX3 SLC5A6 SMO SNAP29 SNRPN SON SRD5A3 SRPX2 STIL SUFU SUZ12 TBC1D20 TBC1D24 TCTN1 TCTN2 TDGF1 TGIF1 TMEM218 TMEM237 TMEM67 TMTC3 TMX2 TOGARAM1 TP53RK TRRAP TUBA1A TUBA8 TUBB TUBB2B TUBB3 TUFM USP18 VPS4A WDR62 WT1 ZEB2 ZIC2 ZNHIT3

Diseases (148) :ORPHA:2995 ORPHA:98889 OMIM:606854 OMIM:615752 ORPHA:475 OMIM:608629 ORPHA:220493 ORPHA:99802 OMIM:615937 ORPHA:83473 OMIM:100300 OMIM:618494 OMIM:619605 OMIM:619602 OMIM:619606 ORPHA:357074 OMIM:219200 ORPHA:79500 OMIM:615181 ORPHA:899 OMIM:618291 OMIM:608022 OMIM:615948 OMIM:617507 OMIM:615938 ORPHA:280195 OMIM:612651 OMIM:267750 OMIM:618343 OMIM:614483 OMIM:277170 ORPHA:228308 OMIM:608836 OMIM:614643 OMIM:300354 ORPHA:370997 OMIM:616538 ORPHA:98820 ORPHA:35107 OMIM:618731 ORPHA:171703 OMIM:614219 OMIM:614563 OMIM:618877 OMIM:600348 OMIM:610758 ORPHA:75857 OMIM:619777 OMIM:618156 OMIM:606812 OMIM:612691 ORPHA:370959 OMIM:236670 OMIM:253800 ORPHA:1136 ORPHA:488613 OMIM:616973 OMIM:615501 OMIM:604213 OMIM:614254 OMIM:261515 OMIM:615330 OMIM:619103 OMIM:616212 OMIM:616546 OMIM:615282 OMIM:609460 OMIM:300982 OMIM:301006 OMIM:614115 ORPHA:79243 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:619775 OMIM:618918 OMIM:618443 OMIM:617188 OMIM:300673 OMIM:615673 OMIM:618774 ORPHA:457485 OMIM:616638 ORPHA:220497 OMIM:300831 ORPHA:251383 OMIM:251290 OMIM:619075 OMIM:106210 OMIM:214100 ORPHA:912 OMIM:614883 OMIM:614866 OMIM:614872 OMIM:619708 OMIM:616531 OMIM:618580 ORPHA:60040 OMIM:602501 OMIM:603387 ORPHA:3455 OMIM:253280 OMIM:620024 OMIM:618820 ORPHA:65285 OMIM:614222 OMIM:600118 OMIM:614225 OMIM:617751 ORPHA:500159 OMIM:218600 OMIM:210710 ORPHA:468631 OMIM:614833 OMIM:617938 OMIM:154400 OMIM:619121 OMIM:613406 OMIM:618973 OMIM:601707 ORPHA:66631 OMIM:609528 ORPHA:500150 OMIM:612379 OMIM:300643 OMIM:617757 OMIM:618786 OMIM:615663 OMIM:616654 OMIM:617255 OMIM:618730 OMIM:617730 OMIM:618454 OMIM:611603 ORPHA:171680 ORPHA:250972 OMIM:615771 OMIM:610031 ORPHA:300573 ORPHA:300570 OMIM:614039 OMIM:610678 OMIM:617397 OMIM:619273 OMIM:604317 ORPHA:261552 ORPHA:261537 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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