Human Phenotype Ontology 
Grandparent Node:
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Abnormality of neuronal migration (HP:0002269)help
Grandparent Node:
expand
Abnormality of the cerebral cortex (HP:0002538)help
Parent Node:
expand
Abnormal cortical gyration (HP:0002536)help
..Starting node
..expand
Polymicrogyria (HP:0002126)help
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:
........expandPolymicrogyria, anterior to posterior gradient (HP:0006821) help
........expandUnilateral polymicrogyria (HP:0006927) help
........expandFrontoparietal polymicrogyria (HP:0007095) help
........expandPerisylvian polymicrogyria (HP:0012650) help

 Sister Nodes: 
..expandLissencephaly (HP:0001339) help
..expandMacrogyria (HP:0007227) help
..expandSimplified gyral pattern (HP:0009879) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002126HP:0002126Polymicrogyria0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0002126HP:0002126Polymicrogyria0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0002126HP:0002126Polymicrogyria0AKT3 CL E G H1000083473ORPHA128175393611223
HP:0002126HP:0002126Polymicrogyria0AKT3 CL E G H10000615937Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2615937C4014738OMIM128175393611223
HP:0002126HP:0002126Polymicrogyria0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM1710329216610911
HP:0002126HP:0002126Polymicrogyria0ATP6V0A2 CL E G H23545357074ORPHA15630918481611716
HP:0002126HP:0002126Polymicrogyria0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM15630918481611716
HP:0002126HP:0002126Polymicrogyria0ATP6V1A CL E G H523357074ORPHA1947851607027
HP:0002126HP:0002126Polymicrogyria0ATP6V1E1 CL E G H529357074ORPHA1278857108746
HP:0002126HP:0002126Polymicrogyria0B3GALNT2 CL E G H148789899ORPHA11622128596610194
HP:0002126HP:0002126Polymicrogyria0B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM11622128596610194
HP:0002126HP:0002126Polymicrogyria0B4GAT1 CL E G H11041899ORPHA178415685605517
HP:0002126HP:0002126Polymicrogyria0BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM11914824154608699
HP:0002126HP:0002126Polymicrogyria0CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM145625523609736
HP:0002126HP:0002126Polymicrogyria0CCND2 CL E G H89483473ORPHA111851583123833
HP:0002126HP:0002126Polymicrogyria0CCND2 CL E G H894615938Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3615938C4014742OMIM111851583123833
HP:0002126HP:0002126Polymicrogyria0COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM1364472195120328
HP:0002126HP:0002126Polymicrogyria0COL4A1 CL E G H1282899ORPHA11144982202120130
HP:0002126HP:0002126Polymicrogyria0CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM11133662330600650
HP:0002126HP:0002126Polymicrogyria0DAG1 CL E G H1605899ORPHA1113012666128239
HP:0002126HP:0002126Polymicrogyria0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM1113012666128239
HP:0002126HP:0002126Polymicrogyria0EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM17663330602033
HP:0002126HP:0002126Polymicrogyria0ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM18533433126380
HP:0002126HP:0002126Polymicrogyria0ERMARD CL E G H5578075857ORPHA1214521056615532
HP:0002126HP:0002126Polymicrogyria0FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM12168903700136850
HP:0002126HP:0002126Polymicrogyria0FIG4 CL E G H9896612691Polymicrogyria, bilateral temporooccipital612691C2675191OMIM17142516873609390
HP:0002126HP:0002126Polymicrogyria0FKRP CL E G H79147899ORPHA114140217997606596
HP:0002126HP:0002126Polymicrogyria0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114140217997606596
HP:0002126HP:0002126Polymicrogyria0FKTN CL E G H2218899ORPHA1594503622607440
HP:0002126HP:0002126Polymicrogyria0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1594503622607440
HP:0002126HP:0002126Polymicrogyria0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1594503622607440
HP:0002126HP:0002126Polymicrogyria0GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM12015515465603930
HP:0002126HP:0002126Polymicrogyria0GPSM2 CL E G H29899604213Chudley-McCullough syndrome604213C1858695OMIM11115829501609245
HP:0002126HP:0002126Polymicrogyria0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0002126HP:0002126Polymicrogyria0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM12311327302615316
HP:0002126HP:0002126Polymicrogyria0ISPD CL E G H729920899ORPHA147537276614631
HP:0002126HP:0002126Polymicrogyria0ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM147537276614631
HP:0002126HP:0002126Polymicrogyria0KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM111736217602703
HP:0002126HP:0002126Polymicrogyria0KIAA0586 CL E G H9786616546Short-rib thoracic dysplasia 14 with polydactyly616546C4225286OMIM13115519960610178
HP:0002126HP:0002126Polymicrogyria0KIF1BP CL E G H26128609460Goldberg-Shprintzen megacolon syndrome609460C1836123OMIM11023419609367
HP:0002126HP:0002126Polymicrogyria0KIF5C CL E G H3800615282Cortical dysplasia, complex, with other brain malformations 2615282C3809013OMIM16766325604593
HP:0002126HP:0002126Polymicrogyria0KLHL15 CL E G H80311300982Mental retardation, X-linked 103300982C4310818OMIM1417229347300980
HP:0002126HP:0002126Polymicrogyria0LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM1321926058300060
HP:0002126HP:0002126Polymicrogyria0LAMC3 CL E G H10319614115Cortical malformations, occipital614115C3279875OMIM1182766494604349
HP:0002126HP:0002126Polymicrogyria0LARGE1 CL E G H9215899ORPHA1284066511603590
HP:0002126HP:0002126Polymicrogyria0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1284066511603590
HP:0002126HP:0002126Polymicrogyria0MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM174015505606048
HP:0002126HP:0002126Polymicrogyria0MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM1105014426990300005
HP:0002126HP:0002126Polymicrogyria0NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM13125613398300275
HP:0002126HP:0002126Polymicrogyria0OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM120618104602876
HP:0002126HP:0002126Polymicrogyria0PAX6 CL E G H5080106210Aniridia 1106210C0344542OMIM15714968620607108
HP:0002126HP:0002126Polymicrogyria0PEX1 CL E G H5189912ORPHA11404898850602136
HP:0002126HP:0002126Polymicrogyria0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11404898850602136
HP:0002126HP:0002126Polymicrogyria0PEX10 CL E G H5192912ORPHA1323478851602859
HP:0002126HP:0002126Polymicrogyria0PEX11B CL E G H8799912ORPHA182478853603867
HP:0002126HP:0002126Polymicrogyria0PEX12 CL E G H5193912ORPHA1371818854601758
HP:0002126HP:0002126Polymicrogyria0PEX13 CL E G H5194912ORPHA1101968855601789
HP:0002126HP:0002126Polymicrogyria0PEX13 CL E G H5194614883Peroxisome biogenesis disorder 11A614883C3554000OMIM1101968855601789
HP:0002126HP:0002126Polymicrogyria0PEX14 CL E G H5195912ORPHA151768856601791
HP:0002126HP:0002126Polymicrogyria0PEX16 CL E G H9409912ORPHA1151498857603360
HP:0002126HP:0002126Polymicrogyria0PEX19 CL E G H5824912ORPHA141339713600279
HP:0002126HP:0002126Polymicrogyria0PEX2 CL E G H5828912ORPHA1182089717170993
HP:0002126HP:0002126Polymicrogyria0PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM1182089717170993
HP:0002126HP:0002126Polymicrogyria0PEX26 CL E G H55670912ORPHA12727722965608666
HP:0002126HP:0002126Polymicrogyria0PEX3 CL E G H8504912ORPHA1101168858603164
HP:0002126HP:0002126Polymicrogyria0PEX5 CL E G H5830912ORPHA1142809719600414
HP:0002126HP:0002126Polymicrogyria0PEX6 CL E G H5190912ORPHA11093758859601498
HP:0002126HP:0002126Polymicrogyria0PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA1231458923606879
HP:0002126HP:0002126Polymicrogyria0PI4KA CL E G H5297616531Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis616531C4225295OMIM144398983600286
HP:0002126HP:0002126Polymicrogyria0PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1573798975171834
HP:0002126HP:0002126Polymicrogyria0PIK3R2 CL E G H529683473ORPHA191018980603157
HP:0002126HP:0002126Polymicrogyria0PIK3R2 CL E G H5296603387Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387C1863924OMIM191018980603157
HP:0002126HP:0002126Polymicrogyria0POMGNT1 CL E G H55624899ORPHA18946119139606822
HP:0002126HP:0002126Polymicrogyria0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM18946119139606822
HP:0002126HP:0002126Polymicrogyria0POMGNT2 CL E G H84892899ORPHA1919125902614828
HP:0002126HP:0002126Polymicrogyria0POMK CL E G H84197899ORPHA1814826267615247
HP:0002126HP:0002126Polymicrogyria0POMT1 CL E G H10585899ORPHA1965089202607423
HP:0002126HP:0002126Polymicrogyria0POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1965089202607423
HP:0002126HP:0002126Polymicrogyria0POMT2 CL E G H29954899ORPHA17550219743607439
HP:0002126HP:0002126Polymicrogyria0POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM17550219743607439
HP:0002126HP:0002126Polymicrogyria0POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17550219743607439
HP:0002126HP:0002126Polymicrogyria0PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA11032319129610936
HP:0002126HP:0002126Polymicrogyria0PTEN CL E G H572865285ORPHA165820199588601728
HP:0002126HP:0002126Polymicrogyria0RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM1515414244602207
HP:0002126HP:0002126Polymicrogyria0RAB3GAP2 CL E G H25782614225Warburg micro syndrome 2614225C3280214OMIM11629417168609275
HP:0002126HP:0002126Polymicrogyria0RECQL4 CL E G H9401218600Baller-Gerold syndrome218600C0265308OMIM112220289949603780
HP:0002126HP:0002126Polymicrogyria0RXYLT1 CL E G H10329899ORPHA1810613530605862
HP:0002126HP:0002126Polymicrogyria0SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM1385810771605593
HP:0002126HP:0002126Polymicrogyria0SNAP29 CL E G H934266631ORPHA11352711133604202
HP:0002126HP:0002126Polymicrogyria0SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM11352711133604202
HP:0002126HP:0002126Polymicrogyria0SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM11613925812611715
HP:0002126HP:0002126Polymicrogyria0TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM11520325774613846
HP:0002126HP:0002126Polymicrogyria0TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM1104426899617218
HP:0002126HP:0002126Polymicrogyria0TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM152616197608679
HP:0002126HP:0002126Polymicrogyria0TUBA1A CL E G H7846611603Lissencephaly 3611603C1969029OMIM16819020766602529
HP:0002126HP:0002126Polymicrogyria0TUBA8 CL E G H51807613180Polymicrogyria with optic nerve hypoplasia613180C2750798OMIM1310912410605742
HP:0002126HP:0002126Polymicrogyria0TUBB3 CL E G H10381300570ORPHA12615520772602661
HP:0002126HP:0002126Polymicrogyria0TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM12615520772602661
HP:0002126HP:0002126Polymicrogyria0TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM1720912420602389
HP:0002126HP:0002126Polymicrogyria0USP18 CL E G H11274617397Pseudo-torch syndrome 2617397C4479376OMIM1114712616607057
HP:0002126HP:0002126Polymicrogyria0WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM15140924502613583
HP:0002126HP:0002126Polymicrogyria0WT1 CL E G H7490106210Aniridia 1106210C0344542OMIM118463512796607102
HP:0002126HP:0002126Polymicrogyria0ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM119912309604500
HP:0002126HP:0002126Polymicrogyria1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0002126HP:0002126Polymicrogyria1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0002126HP:0002126Polymicrogyria1AKT3 CL E G H1000083473ORPHA128175393611223
HP:0002126HP:0002126Polymicrogyria1AKT3 CL E G H10000615937Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2615937C4014738OMIM128175393611223
HP:0002126HP:0002126Polymicrogyria1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM1710329216610911
HP:0002126HP:0002126Polymicrogyria1ATP6V0A2 CL E G H23545357074ORPHA15630918481611716
HP:0002126HP:0002126Polymicrogyria1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM15630918481611716
HP:0002126HP:0002126Polymicrogyria1ATP6V1A CL E G H523357074ORPHA1947851607027
HP:0002126HP:0002126Polymicrogyria1ATP6V1E1 CL E G H529357074ORPHA1278857108746
HP:0002126HP:0002126Polymicrogyria1B3GALNT2 CL E G H148789899ORPHA11622128596610194
HP:0002126HP:0002126Polymicrogyria1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM11622128596610194
HP:0002126HP:0002126Polymicrogyria1B4GAT1 CL E G H11041899ORPHA178415685605517
HP:0002126HP:0002126Polymicrogyria1BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM11914824154608699
HP:0002126HP:0002126Polymicrogyria1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM145625523609736
HP:0002126HP:0002126Polymicrogyria1CCND2 CL E G H89483473ORPHA111851583123833
HP:0002126HP:0002126Polymicrogyria1CCND2 CL E G H894615938Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3615938C4014742OMIM111851583123833
HP:0002126HP:0002126Polymicrogyria1COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM1364472195120328
HP:0002126HP:0002126Polymicrogyria1COL4A1 CL E G H1282899ORPHA11144982202120130
HP:0002126HP:0002126Polymicrogyria1CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM11133662330600650
HP:0002126HP:0002126Polymicrogyria1DAG1 CL E G H1605899ORPHA1113012666128239
HP:0002126HP:0002126Polymicrogyria1DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM1113012666128239
HP:0002126HP:0002126Polymicrogyria1EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM17663330602033
HP:0002126HP:0002126Polymicrogyria1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM18533433126380
HP:0002126HP:0002126Polymicrogyria1ERMARD CL E G H5578075857ORPHA1214521056615532
HP:0002126HP:0002126Polymicrogyria1FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM12168903700136850
HP:0002126HP:0002126Polymicrogyria1FIG4 CL E G H9896612691Polymicrogyria, bilateral temporooccipital612691C2675191OMIM17142516873609390
HP:0002126HP:0002126Polymicrogyria1FKRP CL E G H79147899ORPHA114140217997606596
HP:0002126HP:0002126Polymicrogyria1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114140217997606596
HP:0002126HP:0002126Polymicrogyria1FKTN CL E G H2218899ORPHA1594503622607440
HP:0002126HP:0002126Polymicrogyria1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1594503622607440
HP:0002126HP:0002126Polymicrogyria1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1594503622607440
HP:0002126HP:0002126Polymicrogyria1GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM12015515465603930
HP:0002126HP:0002126Polymicrogyria1GPSM2 CL E G H29899604213Chudley-McCullough syndrome604213C1858695OMIM11115829501609245
HP:0002126HP:0002126Polymicrogyria1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0002126HP:0002126Polymicrogyria1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM12311327302615316
HP:0002126HP:0002126Polymicrogyria1ISPD CL E G H729920899ORPHA147537276614631
HP:0002126HP:0002126Polymicrogyria1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM147537276614631
HP:0002126HP:0002126Polymicrogyria1KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM111736217602703
HP:0002126HP:0002126Polymicrogyria1KIAA0586 CL E G H9786616546Short-rib thoracic dysplasia 14 with polydactyly616546C4225286OMIM13115519960610178
HP:0002126HP:0002126Polymicrogyria1KIF1BP CL E G H26128609460Goldberg-Shprintzen megacolon syndrome609460C1836123OMIM11023419609367
HP:0002126HP:0002126Polymicrogyria1KIF5C CL E G H3800615282Cortical dysplasia, complex, with other brain malformations 2615282C3809013OMIM16766325604593
HP:0002126HP:0002126Polymicrogyria1KLHL15 CL E G H80311300982Mental retardation, X-linked 103300982C4310818OMIM1417229347300980
HP:0002126HP:0002126Polymicrogyria1LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM1321926058300060
HP:0002126HP:0002126Polymicrogyria1LAMC3 CL E G H10319614115Cortical malformations, occipital614115C3279875OMIM1182766494604349
HP:0002126HP:0002126Polymicrogyria1LARGE1 CL E G H9215899ORPHA1284066511603590
HP:0002126HP:0002126Polymicrogyria1LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1284066511603590
HP:0002126HP:0002126Polymicrogyria1MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM174015505606048
HP:0002126HP:0002126Polymicrogyria1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM1105014426990300005
HP:0002126HP:0002126Polymicrogyria1NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM13125613398300275
HP:0002126HP:0002126Polymicrogyria1OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM120618104602876
HP:0002126HP:0002126Polymicrogyria1PAX6 CL E G H5080106210Aniridia 1106210C0344542OMIM15714968620607108
HP:0002126HP:0002126Polymicrogyria1PEX1 CL E G H5189912ORPHA11404898850602136
HP:0002126HP:0002126Polymicrogyria1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11404898850602136
HP:0002126HP:0002126Polymicrogyria1PEX10 CL E G H5192912ORPHA1323478851602859
HP:0002126HP:0002126Polymicrogyria1PEX11B CL E G H8799912ORPHA182478853603867
HP:0002126HP:0002126Polymicrogyria1PEX12 CL E G H5193912ORPHA1371818854601758
HP:0002126HP:0002126Polymicrogyria1PEX13 CL E G H5194912ORPHA1101968855601789
HP:0002126HP:0002126Polymicrogyria1PEX13 CL E G H5194614883Peroxisome biogenesis disorder 11A614883C3554000OMIM1101968855601789
HP:0002126HP:0002126Polymicrogyria1PEX14 CL E G H5195912ORPHA151768856601791
HP:0002126HP:0002126Polymicrogyria1PEX16 CL E G H9409912ORPHA1151498857603360
HP:0002126HP:0002126Polymicrogyria1PEX19 CL E G H5824912ORPHA141339713600279
HP:0002126HP:0002126Polymicrogyria1PEX2 CL E G H5828912ORPHA1182089717170993
HP:0002126HP:0002126Polymicrogyria1PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM1182089717170993
HP:0002126HP:0002126Polymicrogyria1PEX26 CL E G H55670912ORPHA12727722965608666
HP:0002126HP:0002126Polymicrogyria1PEX3 CL E G H8504912ORPHA1101168858603164
HP:0002126HP:0002126Polymicrogyria1PEX5 CL E G H5830912ORPHA1142809719600414
HP:0002126HP:0002126Polymicrogyria1PEX6 CL E G H5190912ORPHA11093758859601498
HP:0002126HP:0002126Polymicrogyria1PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA1231458923606879
HP:0002126HP:0002126Polymicrogyria1PI4KA CL E G H5297616531Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis616531C4225295OMIM144398983600286
HP:0002126HP:0002126Polymicrogyria1PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1573798975171834
HP:0002126HP:0002126Polymicrogyria1PIK3R2 CL E G H529683473ORPHA191018980603157
HP:0002126HP:0002126Polymicrogyria1PIK3R2 CL E G H5296603387Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387C1863924OMIM191018980603157
HP:0002126HP:0002126Polymicrogyria1POMGNT1 CL E G H55624899ORPHA18946119139606822
HP:0002126HP:0002126Polymicrogyria1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM18946119139606822
HP:0002126HP:0002126Polymicrogyria1POMGNT2 CL E G H84892899ORPHA1919125902614828
HP:0002126HP:0002126Polymicrogyria1POMK CL E G H84197899ORPHA1814826267615247
HP:0002126HP:0002126Polymicrogyria1POMT1 CL E G H10585899ORPHA1965089202607423
HP:0002126HP:0002126Polymicrogyria1POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1965089202607423
HP:0002126HP:0002126Polymicrogyria1POMT2 CL E G H29954899ORPHA17550219743607439
HP:0002126HP:0002126Polymicrogyria1POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM17550219743607439
HP:0002126HP:0002126Polymicrogyria1POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17550219743607439
HP:0002126HP:0002126Polymicrogyria1PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA11032319129610936
HP:0002126HP:0002126Polymicrogyria1PTEN CL E G H572865285ORPHA165820199588601728
HP:0002126HP:0002126Polymicrogyria1RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM1515414244602207
HP:0002126HP:0002126Polymicrogyria1RAB3GAP2 CL E G H25782614225Warburg micro syndrome 2614225C3280214OMIM11629417168609275
HP:0002126HP:0002126Polymicrogyria1RECQL4 CL E G H9401218600Baller-Gerold syndrome218600C0265308OMIM112220289949603780
HP:0002126HP:0002126Polymicrogyria1RXYLT1 CL E G H10329899ORPHA1810613530605862
HP:0002126HP:0002126Polymicrogyria1SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM1385810771605593
HP:0002126HP:0002126Polymicrogyria1SNAP29 CL E G H934266631ORPHA11352711133604202
HP:0002126HP:0002126Polymicrogyria1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM11352711133604202
HP:0002126HP:0002126Polymicrogyria1SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM11613925812611715
HP:0002126HP:0002126Polymicrogyria1TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM11520325774613846
HP:0002126HP:0002126Polymicrogyria1TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM1104426899617218
HP:0002126HP:0002126Polymicrogyria1TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM152616197608679
HP:0002126HP:0002126Polymicrogyria1TUBA1A CL E G H7846611603Lissencephaly 3611603C1969029OMIM16819020766602529
HP:0002126HP:0002126Polymicrogyria1TUBA8 CL E G H51807613180Polymicrogyria with optic nerve hypoplasia613180C2750798OMIM1310912410605742
HP:0002126HP:0002126Polymicrogyria1TUBB3 CL E G H10381300570ORPHA12615520772602661
HP:0002126HP:0002126Polymicrogyria1TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM12615520772602661
HP:0002126HP:0002126Polymicrogyria1TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM1720912420602389
HP:0002126HP:0002126Polymicrogyria1USP18 CL E G H11274617397Pseudo-torch syndrome 2617397C4479376OMIM1114712616607057
HP:0002126HP:0002126Polymicrogyria1WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM15140924502613583
HP:0002126HP:0002126Polymicrogyria1WT1 CL E G H7490106210Aniridia 1106210C0344542OMIM118463512796607102
HP:0002126HP:0002126Polymicrogyria1ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM119912309604500
HP:0002126HP:0002126Polymicrogyria2ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0002126HP:0002126Polymicrogyria2ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0002126HP:0002126Polymicrogyria2AKT3 CL E G H1000083473ORPHA128175393611223
HP:0002126HP:0002126Polymicrogyria2AKT3 CL E G H10000615937Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2615937C4014738OMIM128175393611223
HP:0002126HP:0002126Polymicrogyria2ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM1710329216610911
HP:0002126HP:0002126Polymicrogyria2ATP6V0A2 CL E G H23545357074ORPHA15630918481611716
HP:0002126HP:0002126Polymicrogyria2ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM15630918481611716
HP:0002126HP:0002126Polymicrogyria2ATP6V1A CL E G H523357074ORPHA1947851607027
HP:0002126HP:0002126Polymicrogyria2ATP6V1E1 CL E G H529357074ORPHA1278857108746
HP:0002126HP:0002126Polymicrogyria2B3GALNT2 CL E G H148789899ORPHA11622128596610194
HP:0002126HP:0002126Polymicrogyria2B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM11622128596610194
HP:0002126HP:0002126Polymicrogyria2B4GAT1 CL E G H11041899ORPHA178415685605517
HP:0002126HP:0002126Polymicrogyria2BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM11914824154608699
HP:0002126HP:0002126Polymicrogyria2CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM145625523609736
HP:0002126HP:0002126Polymicrogyria2CCND2 CL E G H89483473ORPHA111851583123833
HP:0002126HP:0002126Polymicrogyria2CCND2 CL E G H894615938Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3615938C4014742OMIM111851583123833
HP:0002126HP:0002126Polymicrogyria2COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM1364472195120328
HP:0002126HP:0002126Polymicrogyria2COL4A1 CL E G H1282899ORPHA11144982202120130
HP:0002126HP:0002126Polymicrogyria2CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM11133662330600650
HP:0002126HP:0002126Polymicrogyria2DAG1 CL E G H1605899ORPHA1113012666128239
HP:0002126HP:0002126Polymicrogyria2DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM1113012666128239
HP:0002126HP:0002126Polymicrogyria2EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM17663330602033
HP:0002126HP:0002126Polymicrogyria2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM18533433126380
HP:0002126HP:0002126Polymicrogyria2ERMARD CL E G H5578075857ORPHA1214521056615532
HP:0002126HP:0002126Polymicrogyria2FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM12168903700136850
HP:0002126HP:0002126Polymicrogyria2FIG4 CL E G H9896612691Polymicrogyria, bilateral temporooccipital612691C2675191OMIM17142516873609390
HP:0002126HP:0002126Polymicrogyria2FKRP CL E G H79147899ORPHA114140217997606596
HP:0002126HP:0002126Polymicrogyria2FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114140217997606596
HP:0002126HP:0002126Polymicrogyria2FKTN CL E G H2218899ORPHA1594503622607440
HP:0002126HP:0002126Polymicrogyria2FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1594503622607440
HP:0002126HP:0002126Polymicrogyria2FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1594503622607440
HP:0002126HP:0002126Polymicrogyria2GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM12015515465603930
HP:0002126HP:0002126Polymicrogyria2GPSM2 CL E G H29899604213Chudley-McCullough syndrome604213C1858695OMIM11115829501609245
HP:0002126HP:0002126Polymicrogyria2HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0002126HP:0002126Polymicrogyria2IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM12311327302615316
HP:0002126HP:0002126Polymicrogyria2ISPD CL E G H729920899ORPHA147537276614631
HP:0002126HP:0002126Polymicrogyria2ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM147537276614631
HP:0002126HP:0002126Polymicrogyria2KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM111736217602703
HP:0002126HP:0002126Polymicrogyria2KIAA0586 CL E G H9786616546Short-rib thoracic dysplasia 14 with polydactyly616546C4225286OMIM13115519960610178
HP:0002126HP:0002126Polymicrogyria2KIF1BP CL E G H26128609460Goldberg-Shprintzen megacolon syndrome609460C1836123OMIM11023419609367
HP:0002126HP:0002126Polymicrogyria2KIF5C CL E G H3800615282Cortical dysplasia, complex, with other brain malformations 2615282C3809013OMIM16766325604593
HP:0002126HP:0002126Polymicrogyria2KLHL15 CL E G H80311300982Mental retardation, X-linked 103300982C4310818OMIM1417229347300980
HP:0002126HP:0002126Polymicrogyria2LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM1321926058300060
HP:0002126HP:0002126Polymicrogyria2LAMC3 CL E G H10319614115Cortical malformations, occipital614115C3279875OMIM1182766494604349
HP:0002126HP:0002126Polymicrogyria2LARGE1 CL E G H9215899ORPHA1284066511603590
HP:0002126HP:0002126Polymicrogyria2LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1284066511603590
HP:0002126HP:0002126Polymicrogyria2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM174015505606048
HP:0002126HP:0002126Polymicrogyria2MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM1105014426990300005
HP:0002126HP:0002126Polymicrogyria2NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM13125613398300275
HP:0002126HP:0002126Polymicrogyria2OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM120618104602876
HP:0002126HP:0002126Polymicrogyria2PAX6 CL E G H5080106210Aniridia 1106210C0344542OMIM15714968620607108
HP:0002126HP:0002126Polymicrogyria2PEX1 CL E G H5189912ORPHA11404898850602136
HP:0002126HP:0002126Polymicrogyria2PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11404898850602136
HP:0002126HP:0002126Polymicrogyria2PEX10 CL E G H5192912ORPHA1323478851602859
HP:0002126HP:0002126Polymicrogyria2PEX11B CL E G H8799912ORPHA182478853603867
HP:0002126HP:0002126Polymicrogyria2PEX12 CL E G H5193912ORPHA1371818854601758
HP:0002126HP:0002126Polymicrogyria2PEX13 CL E G H5194912ORPHA1101968855601789
HP:0002126HP:0002126Polymicrogyria2PEX13 CL E G H5194614883Peroxisome biogenesis disorder 11A614883C3554000OMIM1101968855601789
HP:0002126HP:0002126Polymicrogyria2PEX14 CL E G H5195912ORPHA151768856601791
HP:0002126HP:0002126Polymicrogyria2PEX16 CL E G H9409912ORPHA1151498857603360
HP:0002126HP:0002126Polymicrogyria2PEX19 CL E G H5824912ORPHA141339713600279
HP:0002126HP:0002126Polymicrogyria2PEX2 CL E G H5828912ORPHA1182089717170993
HP:0002126HP:0002126Polymicrogyria2PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM1182089717170993
HP:0002126HP:0002126Polymicrogyria2PEX26 CL E G H55670912ORPHA12727722965608666
HP:0002126HP:0002126Polymicrogyria2PEX3 CL E G H8504912ORPHA1101168858603164
HP:0002126HP:0002126Polymicrogyria2PEX5 CL E G H5830912ORPHA1142809719600414
HP:0002126HP:0002126Polymicrogyria2PEX6 CL E G H5190912ORPHA11093758859601498
HP:0002126HP:0002126Polymicrogyria2PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA1231458923606879
HP:0002126HP:0002126Polymicrogyria2PI4KA CL E G H5297616531Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis616531C4225295OMIM144398983600286
HP:0002126HP:0002126Polymicrogyria2PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1573798975171834
HP:0002126HP:0002126Polymicrogyria2PIK3R2 CL E G H529683473ORPHA191018980603157
HP:0002126HP:0002126Polymicrogyria2PIK3R2 CL E G H5296603387Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387C1863924OMIM191018980603157
HP:0002126HP:0002126Polymicrogyria2POMGNT1 CL E G H55624899ORPHA18946119139606822
HP:0002126HP:0002126Polymicrogyria2POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM18946119139606822
HP:0002126HP:0002126Polymicrogyria2POMGNT2 CL E G H84892899ORPHA1919125902614828
HP:0002126HP:0002126Polymicrogyria2POMK CL E G H84197899ORPHA1814826267615247
HP:0002126HP:0002126Polymicrogyria2POMT1 CL E G H10585899ORPHA1965089202607423
HP:0002126HP:0002126Polymicrogyria2POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1965089202607423
HP:0002126HP:0002126Polymicrogyria2POMT2 CL E G H29954899ORPHA17550219743607439
HP:0002126HP:0002126Polymicrogyria2POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM17550219743607439
HP:0002126HP:0002126Polymicrogyria2POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17550219743607439
HP:0002126HP:0002126Polymicrogyria2PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA11032319129610936
HP:0002126HP:0002126Polymicrogyria2PTEN CL E G H572865285ORPHA165820199588601728
HP:0002126HP:0002126Polymicrogyria2RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM1515414244602207
HP:0002126HP:0002126Polymicrogyria2RAB3GAP2 CL E G H25782614225Warburg micro syndrome 2614225C3280214OMIM11629417168609275
HP:0002126HP:0002126Polymicrogyria2RECQL4 CL E G H9401218600Baller-Gerold syndrome218600C0265308OMIM112220289949603780
HP:0002126HP:0002126Polymicrogyria2RXYLT1 CL E G H10329899ORPHA1810613530605862
HP:0002126HP:0002126Polymicrogyria2SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM1385810771605593
HP:0002126HP:0002126Polymicrogyria2SNAP29 CL E G H934266631ORPHA11352711133604202
HP:0002126HP:0002126Polymicrogyria2SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM11352711133604202
HP:0002126HP:0002126Polymicrogyria2SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM11613925812611715
HP:0002126HP:0002126Polymicrogyria2TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM11520325774613846
HP:0002126HP:0002126Polymicrogyria2TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM1104426899617218
HP:0002126HP:0002126Polymicrogyria2TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM152616197608679
HP:0002126HP:0002126Polymicrogyria2TUBA1A CL E G H7846611603Lissencephaly 3611603C1969029OMIM16819020766602529
HP:0002126HP:0002126Polymicrogyria2TUBA8 CL E G H51807613180Polymicrogyria with optic nerve hypoplasia613180C2750798OMIM1310912410605742
HP:0002126HP:0002126Polymicrogyria2TUBB3 CL E G H10381300570ORPHA12615520772602661
HP:0002126HP:0002126Polymicrogyria2TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM12615520772602661
HP:0002126HP:0002126Polymicrogyria2TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM1720912420602389
HP:0002126HP:0002126Polymicrogyria2USP18 CL E G H11274617397Pseudo-torch syndrome 2617397C4479376OMIM1114712616607057
HP:0002126HP:0002126Polymicrogyria2WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM15140924502613583
HP:0002126HP:0002126Polymicrogyria2WT1 CL E G H7490106210Aniridia 1106210C0344542OMIM118463512796607102
HP:0002126HP:0002126Polymicrogyria2ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM119912309604500
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002126HP:0002126Polymicrogyria0AHI1 CL E G H54806220493ORPHA09642221575608894
HP:0002126HP:0002126Polymicrogyria0AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA09642221575608894
HP:0002126HP:0002126Polymicrogyria0ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA01012025419608922
HP:0002126HP:0002126Polymicrogyria0ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA0333694604695
HP:0002126HP:0002126Polymicrogyria0ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA01110520730617612
HP:0002126HP:0002126Polymicrogyria0B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA01015824123614144
HP:0002126HP:0002126Polymicrogyria0BICD2 CL E G H23299618291618291618291OMIM03532317208609797
HP:0002126HP:0002126Polymicrogyria0CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA0715224866616690
HP:0002126HP:0002126Polymicrogyria0CEP120 CL E G H153241220493ORPHA098726690613446
HP:0002126HP:0002126Polymicrogyria0CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA098726690613446
HP:0002126HP:0002126Polymicrogyria0CEP41 CL E G H95681220493ORPHA01123212370610523
HP:0002126HP:0002126Polymicrogyria0CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA01123212370610523
HP:0002126HP:0002126Polymicrogyria0CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA011859425801614571
HP:0002126HP:0002126Polymicrogyria0CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA02725726193611654
HP:0002126HP:0002126Polymicrogyria0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM0402472555300304
HP:0002126HP:0002126Polymicrogyria0DHCR24 CL E G H171835107ORPHA0101372859606418
HP:0002126HP:0002126Polymicrogyria0DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM02221919189614194
HP:0002126HP:0002126Polymicrogyria0GNB1 CL E G H2782488613ORPHA0241844396139380
HP:0002126HP:0002126Polymicrogyria0GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM0393934584138249
HP:0002126HP:0002126Polymicrogyria0HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA0212226558610693
HP:0002126HP:0002126Polymicrogyria0INPP5E CL E G H56623220493ORPHA05432521474613037
HP:0002126HP:0002126Polymicrogyria0INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA05432521474613037
HP:0002126HP:0002126Polymicrogyria0KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA0229068616650
HP:0002126HP:0002126Polymicrogyria0KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA03115519960610178
HP:0002126HP:0002126Polymicrogyria0MKS1 CL E G H54903220493ORPHA0523347121609883
HP:0002126HP:0002126Polymicrogyria0MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA0523347121609883
HP:0002126HP:0002126Polymicrogyria0NPHP1 CL E G H4867220497ORPHA0794037905607100
HP:0002126HP:0002126Polymicrogyria0PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA088723352607532
HP:0002126HP:0002126Polymicrogyria0PIK3CA CL E G H529060040ORPHA0573798975171834
HP:0002126HP:0002126Polymicrogyria0RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM017699801602048
HP:0002126HP:0002126Polymicrogyria0RPGRIP1L CL E G H23322220497ORPHA05143229168610937
HP:0002126HP:0002126Polymicrogyria0RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM01635918654610436
HP:0002126HP:0002126Polymicrogyria0SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM01942210590182391
HP:0002126HP:0002126Polymicrogyria0SMO CL E G H6608601707Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development601707C0795915OMIM077111119601500
HP:0002126HP:0002126Polymicrogyria0SON CL E G H6651500150ORPHA02822411183182465
HP:0002126HP:0002126Polymicrogyria0SUFU CL E G H51684617757JOUBERT SYNDROME 32617757C4540342OMIM04753316466607035
HP:0002126HP:0002126Polymicrogyria0TBC1D24 CL E G H5746579500ORPHA05656429203613577
HP:0002126HP:0002126Polymicrogyria0TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA0611626113609863
HP:0002126HP:0002126Polymicrogyria0TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA01520325774613846
HP:0002126HP:0002126Polymicrogyria0TMEM237 CL E G H65062220497ORPHA01122114432614423
HP:0002126HP:0002126Polymicrogyria0TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA01122114432614423
HP:0002126HP:0002126Polymicrogyria0TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA017431628396609884
HP:0002126HP:0002126Polymicrogyria0TUBB CL E G H203068615771Cortical dysplasia, complex, with other brain malformations 6615771C4014283OMIM083320778191130
HP:0002126HP:0002126Polymicrogyria1AHI1 CL E G H54806220493ORPHA09642221575608894
HP:0002126HP:0002126Polymicrogyria1AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA09642221575608894
HP:0002126HP:0002126Polymicrogyria1ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA01012025419608922
HP:0002126HP:0002126Polymicrogyria1ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA0333694604695
HP:0002126HP:0002126Polymicrogyria1ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA01110520730617612
HP:0002126HP:0002126Polymicrogyria1B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA01015824123614144
HP:0002126HP:0002126Polymicrogyria1BICD2 CL E G H23299618291618291618291OMIM03532317208609797
HP:0002126HP:0002126Polymicrogyria1CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA0715224866616690
HP:0002126HP:0002126Polymicrogyria1CEP120 CL E G H153241220493ORPHA098726690613446
HP:0002126HP:0002126Polymicrogyria1CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA098726690613446
HP:0002126HP:0002126Polymicrogyria1CEP41 CL E G H95681220493ORPHA01123212370610523
HP:0002126HP:0002126Polymicrogyria1CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA01123212370610523
HP:0002126HP:0002126Polymicrogyria1CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA011859425801614571
HP:0002126HP:0002126Polymicrogyria1CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA02725726193611654
HP:0002126HP:0002126Polymicrogyria1CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM0402472555300304
HP:0002126HP:0002126Polymicrogyria1DHCR24 CL E G H171835107ORPHA0101372859606418
HP:0002126HP:0002126Polymicrogyria1DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM02221919189614194
HP:0002126HP:0002126Polymicrogyria1GNB1 CL E G H2782488613ORPHA0241844396139380
HP:0002126HP:0002126Polymicrogyria1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM0393934584138249
HP:0002126HP:0002126Polymicrogyria1HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA0212226558610693
HP:0002126HP:0002126Polymicrogyria1INPP5E CL E G H56623220493ORPHA05432521474613037
HP:0002126HP:0002126Polymicrogyria1INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA05432521474613037
HP:0002126HP:0002126Polymicrogyria1KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA0229068616650
HP:0002126HP:0002126Polymicrogyria1KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA03115519960610178
HP:0002126HP:0002126Polymicrogyria1MKS1 CL E G H54903220493ORPHA0523347121609883
HP:0002126HP:0002126Polymicrogyria1MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA0523347121609883
HP:0002126HP:0002126Polymicrogyria1NPHP1 CL E G H4867220497ORPHA0794037905607100
HP:0002126HP:0002126Polymicrogyria1PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA088723352607532
HP:0002126HP:0002126Polymicrogyria1PIK3CA CL E G H529060040ORPHA0573798975171834
HP:0002126HP:0002126Polymicrogyria1RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM017699801602048
HP:0002126HP:0002126Polymicrogyria1RPGRIP1L CL E G H23322220497ORPHA05143229168610937
HP:0002126HP:0002126Polymicrogyria1RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM01635918654610436
HP:0002126HP:0002126Polymicrogyria1SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM01942210590182391
HP:0002126HP:0002126Polymicrogyria1SMO CL E G H6608601707Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development601707C0795915OMIM077111119601500
HP:0002126HP:0002126Polymicrogyria1SON CL E G H6651500150ORPHA02822411183182465
HP:0002126HP:0002126Polymicrogyria1SUFU CL E G H51684617757JOUBERT SYNDROME 32617757C4540342OMIM04753316466607035
HP:0002126HP:0002126Polymicrogyria1TBC1D24 CL E G H5746579500ORPHA05656429203613577
HP:0002126HP:0002126Polymicrogyria1TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA0611626113609863
HP:0002126HP:0002126Polymicrogyria1TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA01520325774613846
HP:0002126HP:0002126Polymicrogyria1TMEM237 CL E G H65062220497ORPHA01122114432614423
HP:0002126HP:0002126Polymicrogyria1TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA01122114432614423
HP:0002126HP:0002126Polymicrogyria1TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA017431628396609884
HP:0002126HP:0002126Polymicrogyria1TUBB CL E G H203068615771Cortical dysplasia, complex, with other brain malformations 6615771C4014283OMIM083320778191130
HP:0002126HP:0002126Polymicrogyria2AHI1 CL E G H54806220493ORPHA09642221575608894
HP:0002126HP:0002126Polymicrogyria2AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA09642221575608894
HP:0002126HP:0002126Polymicrogyria2ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA01012025419608922
HP:0002126HP:0002126Polymicrogyria2ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA0333694604695
HP:0002126HP:0002126Polymicrogyria2ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA01110520730617612
HP:0002126HP:0002126Polymicrogyria2B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA01015824123614144
HP:0002126HP:0002126Polymicrogyria2BICD2 CL E G H23299618291618291618291OMIM03532317208609797
HP:0002126HP:0002126Polymicrogyria2CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA0715224866616690
HP:0002126HP:0002126Polymicrogyria2CEP120 CL E G H153241220493ORPHA098726690613446
HP:0002126HP:0002126Polymicrogyria2CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA098726690613446
HP:0002126HP:0002126Polymicrogyria2CEP41 CL E G H95681220493ORPHA01123212370610523
HP:0002126HP:0002126Polymicrogyria2CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA01123212370610523
HP:0002126HP:0002126Polymicrogyria2CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA011859425801614571
HP:0002126HP:0002126Polymicrogyria2CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA02725726193611654
HP:0002126HP:0002126Polymicrogyria2CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM0402472555300304
HP:0002126HP:0002126Polymicrogyria2DHCR24 CL E G H171835107ORPHA0101372859606418
HP:0002126HP:0002126Polymicrogyria2DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM02221919189614194
HP:0002126HP:0002126Polymicrogyria2GNB1 CL E G H2782488613ORPHA0241844396139380
HP:0002126HP:0002126Polymicrogyria2GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM0393934584138249
HP:0002126HP:0002126Polymicrogyria2HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA0212226558610693
HP:0002126HP:0002126Polymicrogyria2INPP5E CL E G H56623220493ORPHA05432521474613037
HP:0002126HP:0002126Polymicrogyria2INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA05432521474613037
HP:0002126HP:0002126Polymicrogyria2KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA0229068616650
HP:0002126HP:0002126Polymicrogyria2KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA03115519960610178
HP:0002126HP:0002126Polymicrogyria2MKS1 CL E G H54903220493ORPHA0523347121609883
HP:0002126HP:0002126Polymicrogyria2MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA0523347121609883
HP:0002126HP:0002126Polymicrogyria2NPHP1 CL E G H4867220497ORPHA0794037905607100
HP:0002126HP:0002126Polymicrogyria2PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA088723352607532
HP:0002126HP:0002126Polymicrogyria2PIK3CA CL E G H529060040ORPHA0573798975171834
HP:0002126HP:0002126Polymicrogyria2RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM017699801602048
HP:0002126HP:0002126Polymicrogyria2RPGRIP1L CL E G H23322220497ORPHA05143229168610937
HP:0002126HP:0002126Polymicrogyria2RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM01635918654610436
HP:0002126HP:0002126Polymicrogyria2SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM01942210590182391
HP:0002126HP:0002126Polymicrogyria2SMO CL E G H6608601707Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development601707C0795915OMIM077111119601500
HP:0002126HP:0002126Polymicrogyria2SON CL E G H6651500150ORPHA02822411183182465
HP:0002126HP:0002126Polymicrogyria2SUFU CL E G H51684617757JOUBERT SYNDROME 32617757C4540342OMIM04753316466607035
HP:0002126HP:0002126Polymicrogyria2TBC1D24 CL E G H5746579500ORPHA05656429203613577
HP:0002126HP:0002126Polymicrogyria2TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA0611626113609863
HP:0002126HP:0002126Polymicrogyria2TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA01520325774613846
HP:0002126HP:0002126Polymicrogyria2TMEM237 CL E G H65062220497ORPHA01122114432614423
HP:0002126HP:0002126Polymicrogyria2TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA01122114432614423
HP:0002126HP:0002126Polymicrogyria2TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA017431628396609884
HP:0002126HP:0002126Polymicrogyria2TUBB CL E G H203068615771Cortical dysplasia, complex, with other brain malformations 6615771C4014283OMIM083320778191130


Genes (123) :ACTB ACTG1 ADGRG1 AHI1 AKT3 ARHGAP31 ARL13B ARL3 ARMC9 ATP6V0A2 ATP6V1A ATP6V1E1 B3GALNT2 B4GAT1 B9D1 BICD2 BMPER CCDC88A CCND2 CEP104 CEP120 CEP41 COL18A1 COL4A1 CPLANE1 CPT2 CRPPA CSPP1 CUL4B DAG1 DHCR24 DOCK6 EML1 ERCC1 ERMARD FH FIG4 FKRP FKTN GNB1 GPHN GPSM2 GRIN1 HSD17B4 HYLS1 IBA57 INPP5E ISPD KATNB1 KIAA0556 KIAA0586 KIF1BP KIF5C KLHL15 LAGE3 LAMC3 LARGE1 MBOAT7 MECP2 MKS1 MTOR NPHP1 NSDHL OCLN PAX6 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHGDH PI4KA PIBF1 PIK3CA PIK3R2 POMGNT1 POMGNT2 POMK POMT1 POMT2 PSAT1 PTEN RAB18 RAB3GAP2 RAC1 RECQL4 RPGRIP1L RTTN RXYLT1 SCN3A SF3B4 SMO SNAP29 SON SRD5A3 SRPX2 SUFU TBC1D20 TBC1D24 TCTN1 TCTN2 TMEM237 TMEM67 TMTC3 TP53RK TUBA1A TUBA8 TUBB TUBB2B TUBB3 TUFM USP18 WDR62 WT1 ZNHIT3

Diseases (91) :2995 220493 475 83473 615937 100300 357074 219200 899 615181 618291 608022 617507 615938 267750 608836 614643 300354 616538 35107 614219 600348 610758 75857 606812 612691 236670 253800 488613 615501 604213 614254 261515 615330 616212 616546 609460 615282 300982 301006 614115 617188 300673 220497 300831 251290 106210 912 214100 614883 614866 2671 616531 60040 602501 603387 253280 613150 65285 614222 614225 617751 218600 614833 617938 154400 601707 66631 609528 500150 612379 617757 79500 616654 617255 617730 611603 613180 615771 300570 614039 610678 617397 604317 260565 606854 615752 616638 300643 615663 610031
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.