Human Phenotype Ontology 
Grandparent Node:
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Abnormality of neuronal migration (HP:0002269)help
Grandparent Node:
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Abnormality of the cerebral cortex (HP:0002538)help
Parent Node:
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Abnormal cortical gyration (HP:0002536)help
..Starting node
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Simplified gyral pattern (HP:0009879)help
Term ID: 9879
Name: Simplified gyral pattern
Synonym: Cortical gyral simplification
Definition: An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.
Comments:
Reference: HP:0009879
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandLissencephaly (HP:0001339) help
..expandMacrogyria (HP:0007227) help
..expandPolymicrogyria (HP:0002126) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0009879HP:0009879Simplified gyral pattern0AHDC1 CL E G H27245615829Xia-Gibbs syndrome615829C4014419OMIM13418425230615790
HP:0009879HP:0009879Simplified gyral pattern0ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM128129101616062
HP:0009879HP:0009879Simplified gyral pattern0ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM12798753108370
HP:0009879HP:0009879Simplified gyral pattern0ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM121379019048605481
HP:0009879HP:0009879Simplified gyral pattern0CDK6 CL E G H1021616080Primary autosomal recessive microcephaly 12616080C4015156OMIM11321777603368
HP:0009879HP:0009879Simplified gyral pattern0CENPE CL E G H1062616051Primary autosomal recessive microcephaly 13616051C4015080OMIM141001856117143
HP:0009879HP:0009879Simplified gyral pattern0CEP152 CL E G H22995614852Primary autosomal recessive microcephaly 9614852C3553886OMIM12025229298613529
HP:0009879HP:0009879Simplified gyral pattern0CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM1151131985605629
HP:0009879HP:0009879Simplified gyral pattern0CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM123216999608757
HP:0009879HP:0009879Simplified gyral pattern0COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM14332232606990
HP:0009879HP:0009879Simplified gyral pattern0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM1201022457115440
HP:0009879HP:0009879Simplified gyral pattern0DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0009879HP:0009879Simplified gyral pattern0DONSON CL E G H29980251230Microcephaly-micromelia syndrome251230C1855079OMIM121762993611428
HP:0009879HP:0009879Simplified gyral pattern0ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM18533433126380
HP:0009879HP:0009879Simplified gyral pattern0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM11693573811164874
HP:0009879HP:0009879Simplified gyral pattern0GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM132117493602842
HP:0009879HP:0009879Simplified gyral pattern0IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM148318550609382
HP:0009879HP:0009879Simplified gyral pattern0KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM111736217602703
HP:0009879HP:0009879Simplified gyral pattern0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0009879HP:0009879Simplified gyral pattern0KIF14 CL E G H9928617914MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE617914CN895593OMIM1167719181611279
HP:0009879HP:0009879Simplified gyral pattern0MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM1242467208603785
HP:0009879HP:0009879Simplified gyral pattern0NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM120116117619609449
HP:0009879HP:0009879Simplified gyral pattern0OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM1174618028610107
HP:0009879HP:0009879Simplified gyral pattern0PLK4 CL E G H10733616171Microcephaly and chorioretinopathy, autosomal recessive, 2616171C4015388OMIM169411397605031
HP:0009879HP:0009879Simplified gyral pattern0PNKP CL E G H11284613402Early infantile epileptic encephalopathy 10613402C3150667OMIM1245179154605610
HP:0009879HP:0009879Simplified gyral pattern0TUBB3 CL E G H10381300570ORPHA12615520772602661
HP:0009879HP:0009879Simplified gyral pattern0TUBGCP6 CL E G H85378251270Microcephaly with chorioretinopathy, autosomal recessive251270C3278481OMIM1748418127610053
HP:0009879HP:0009879Simplified gyral pattern0VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM12837412698192977
HP:0009879HP:0009879Simplified gyral pattern0WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM15140924502613583
HP:0009879HP:0009879Simplified gyral pattern0XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM1153712831194363
HP:0009879HP:0009879Simplified gyral pattern0ZNF335 CL E G H63925329228ORPHA11412715807610827
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009879HP:0009879Simplified gyral pattern0CDK5RAP2 CL E G H55755604804Primary autosomal recessive microcephaly 3604804C1858108OMIM02333518672608201
HP:0009879HP:0009879Simplified gyral pattern0CLP1 CL E G H10978411493ORPHA023216999608757
HP:0009879HP:0009879Simplified gyral pattern0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM0402472555300304
HP:0009879HP:0009879Simplified gyral pattern0DONSON CL E G H29980617604MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES617604C4539873OMIM021762993611428
HP:0009879HP:0009879Simplified gyral pattern0PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM0115749413600899
HP:0009879HP:0009879Simplified gyral pattern0QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM0109751603727
HP:0009879HP:0009879Simplified gyral pattern0SON CL E G H6651500150ORPHA02822411183182465
HP:0009879HP:0009879Simplified gyral pattern0STIL CL E G H6491612703Primary autosomal recessive microcephaly 7612703C2675187OMIM01818110879181590
HP:0009879HP:0009879Simplified gyral pattern0TRAIP CL E G H10293616777Seckel syndrome 9616777C4225212OMIM022730764605958
HP:0009879HP:0009879Simplified gyral pattern0TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM0515228422608753
HP:0009879HP:0009879Simplified gyral pattern0TUBB2A CL E G H7280615763Cortical dysplasia, complex, with other brain malformations 5615763C3810407OMIM079412412615101


Genes (40) :AHDC1 ANKLE2 ASNS ASPM CDK5RAP2 CDK6 CENPE CEP152 CIT CLP1 COPB2 CSNK2A1 CUL4B DCHS1 DONSON ERCC1 FOXG1 GMNN IER3IP1 KATNB1 KIF11 KIF14 MPDZ NDE1 OSGEP PLK4 PNKP PRKDC QARS SON STIL TRAIP TSEN2 TUBB2A TUBB3 TUBGCP6 VLDLR WDR62 XRCC4 ZNF335

Diseases (42) :615829 616681 615574 608716 604804 616080 616051 614852 617090 411493 615803 617800 617062 300354 601390 617604 251230 610758 613454 616835 614231 616212 152950 617914 615219 614019 617729 616171 613402 615966 615760 500150 612703 616777 612389 615763 300570 251270 224050 604317 616541 329228
 

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