Human Phenotype Ontology 
Grandparent Node:
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Abnormal corpus callosum morphology (HP:0001273)help
Grandparent Node:
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Aplasia/Hypoplasia of the cerebrum (HP:0007364)help
Parent Node:
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Aplasia/Hypoplasia of the corpus callosum (HP:0007370)help
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Hypoplasia of the corpus callosum (HP:0002079)help
Term ID: 2079
Name: Hypoplasia of the corpus callosum
Synonym: Corpus callosum hypoplasia; Hypoplasia of corpus callosum; Hypoplastic corpus callosum; Small corpus callosum; Thin corpus callosum; Thinning of the corpus callosum; Underdevelopment of part of brain called corpus callosum
Definition: Underdevelopment of the corpus callosum.
Comments:
Reference: HP:0002079
Genes and Diseases:
 
       Child Nodes:
........expandHypodysplasia of the corpus callosum (HP:0006849) help

 Sister Nodes: 
..expandAgenesis of corpus callosum (HP:0001274) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM111316066617036
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM119185118100850
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ADAR CL E G H10351ORPHA1229316225146920
HP:0002079HP:0002079Hypoplasia of the corpus callosum0AHCY CL E G H19188618ORPHA11594343180960
HP:0002079HP:0002079Hypoplasia of the corpus callosum0AHDC1 CL E G H27245615829Xia-Gibbs syndrome615829C4014419OMIM13418425230615790
HP:0002079HP:0002079Hypoplasia of the corpus callosum0AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM136620609600859
HP:0002079HP:0002079Hypoplasia of the corpus callosum0AKT3 CL E G H10000615937Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2615937C4014738OMIM128175393611223
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM161307179603178
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ALX4 CL E G H60529613451Frontonasal dysplasia 2613451C3150703OMIM127221450605420
HP:0002079HP:0002079Hypoplasia of the corpus callosum0AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM11898469102771
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA113472121316611192
HP:0002079HP:0002079Hypoplasia of the corpus callosum0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM121140572607245
HP:0002079HP:0002079Hypoplasia of the corpus callosum0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM115150574602296
HP:0002079HP:0002079Hypoplasia of the corpus callosum0AP5Z1 CL E G H9907306511ORPHA11653622197613653
HP:0002079HP:0002079Hypoplasia of the corpus callosum0AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM11653622197613653
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ARFGEF2 CL E G H10564608097Heterotopia, periventricular, autosomal recessive608097C1842563OMIM11532015853605371
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM1710329216610911
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM164916876606036
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ARSI CL E G H340075401815ORPHA127032521610009
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM12798753108370
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM121379019048605481
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ASXL1 CL E G H17102397297ORPHA14119918318612990
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM14119918318612990
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM15017429357615115
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ATP13A2 CL E G H23400513436ORPHA14436530213610513
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM1622618305300556
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1947851607027
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1947851607027
HP:0002079HP:0002079Hypoplasia of the corpus callosum0BICD2 CL E G H23299618291618291618291OMIM13532317208609797
HP:0002079HP:0002079Hypoplasia of the corpus callosum0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM11848221701614506
HP:0002079HP:0002079Hypoplasia of the corpus callosum0C12orf65 CL E G H91574320375ORPHA11111426784613541
HP:0002079HP:0002079Hypoplasia of the corpus callosum0C2CD3 CL E G H26005615948Orofaciodigital syndrome xiv615948C4014780OMIM11012324564615944
HP:0002079HP:0002079Hypoplasia of the corpus callosum0CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM1436025695612800
HP:0002079HP:0002079Hypoplasia of the corpus callosum0CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM114128033616735
HP:0002079HP:0002079Hypoplasia of the corpus callosum0CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM145625523609736
HP:0002079HP:0002079Hypoplasia of the corpus callosum0CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM111331736116952
HP:0002079HP:0002079Hypoplasia of the corpus callosum0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM1221251733603309
HP:0002079HP:0002079Hypoplasia of the corpus callosum0CEP120 CL E G H153241617761JOUBERT SYNDROME 31617761C4540355OMIM198726690613446
HP:0002079HP:0002079Hypoplasia of the corpus callosum0CEP290 CL E G H80184611134Meckel syndrome type 4611134C1970161OMIM131088429021610142
HP:0002079HP:0002079Hypoplasia of the corpus callosum0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM131068740164010
HP:0002079HP:0002079Hypoplasia of the corpus callosum0CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM123216999608757
HP:0002079HP:0002079Hypoplasia of the corpus callosum0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM121758011602346
HP:0002079HP:0002079Hypoplasia of the corpus callosum0CNTNAP1 CL E G H8506616286Lethal congenital contracture syndrome 7616286C4225386OMIM121758011602346
HP:0002079HP:0002079Hypoplasia of the corpus callosum0COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM137629932609855
HP:0002079HP:0002079Hypoplasia of the corpus callosum0COG2 CL E G H22796435934ORPHA12916546606974
HP:0002079HP:0002079Hypoplasia of the corpus callosum0COG2 CL E G H22796617395CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq617395C4479353OMIM12916546606974
HP:0002079HP:0002079Hypoplasia of the corpus callosum0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM1515918622606978
HP:0002079HP:0002079Hypoplasia of the corpus callosum0COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM14332232606990
HP:0002079HP:0002079Hypoplasia of the corpus callosum0CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM12725726193611654
HP:0002079HP:0002079Hypoplasia of the corpus callosum0CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM16452510114025
HP:0002079HP:0002079Hypoplasia of the corpus callosum0CTNNB1 CL E G H1499615075Mental retardation, autosomal dominant 19615075C3554449OMIM1541802514116806
HP:0002079HP:0002079Hypoplasia of the corpus callosum0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM1113012666128239
HP:0002079HP:0002079Hypoplasia of the corpus callosum0DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM1182678603084
HP:0002079HP:0002079Hypoplasia of the corpus callosum0DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0002079HP:0002079Hypoplasia of the corpus callosum0DDHD2 CL E G H23259320380ORPHA11915229106615003
HP:0002079HP:0002079Hypoplasia of the corpus callosum0DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM11915229106615003
HP:0002079HP:0002079Hypoplasia of the corpus callosum0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0002079HP:0002079Hypoplasia of the corpus callosum0DIAPH1 CL E G H1729616632Seizures, cortical blindness, and microcephaly syndrome616632C4225261OMIM1153592876602121
HP:0002079HP:0002079Hypoplasia of the corpus callosum0DOCK7 CL E G H85440615859Epileptic encephalopathy, early infantile, 23615859C4014492OMIM1744619190615730
HP:0002079HP:0002079Hypoplasia of the corpus callosum0EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM13017929419612799
HP:0002079HP:0002079Hypoplasia of the corpus callosum0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM11181813226300035
HP:0002079HP:0002079Hypoplasia of the corpus callosum0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM151783267300161
HP:0002079HP:0002079Hypoplasia of the corpus callosum0EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM1712028957616846
HP:0002079HP:0002079Hypoplasia of the corpus callosum0EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM163418138295
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ERMARD CL E G H5578075857ORPHA1214521056615532
HP:0002079HP:0002079Hypoplasia of the corpus callosum0EXOSC8 CL E G H11340616081Pontocerebellar hypoplasia, type 1c616081C4015160OMIM136017035606019
HP:0002079HP:0002079Hypoplasia of the corpus callosum0FA2H CL E G H79152171629ORPHA15419421197611026
HP:0002079HP:0002079Hypoplasia of the corpus callosum0FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM15419421197611026
HP:0002079HP:0002079Hypoplasia of the corpus callosum0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0002079HP:0002079Hypoplasia of the corpus callosum0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM14843413601605654
HP:0002079HP:0002079Hypoplasia of the corpus callosum0FGFR1 CL E G H2260613001Encephalocraniocutaneous lipomatosis613001C0406612OMIM12653883688136350
HP:0002079HP:0002079Hypoplasia of the corpus callosum0FGFR3 CL E G H226185165ORPHA1774313690134934
HP:0002079HP:0002079Hypoplasia of the corpus callosum0FGFR3 CL E G H2261616482Severe achondroplasia with developmental delay and acanthosis nigricans616482C2674173OMIM1774313690134934
HP:0002079HP:0002079Hypoplasia of the corpus callosum0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114140217997606596
HP:0002079HP:0002079Hypoplasia of the corpus callosum0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1594503622607440
HP:0002079HP:0002079Hypoplasia of the corpus callosum0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1215103627310607273
HP:0002079HP:0002079Hypoplasia of the corpus callosum0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM11693573811164874
HP:0002079HP:0002079Hypoplasia of the corpus callosum0FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM1626529007300838
HP:0002079HP:0002079Hypoplasia of the corpus callosum0GABRB1 CL E G H2560617153Epileptic encephalopathy, early infantile, 45617153C4310691OMIM15424081137190
HP:0002079HP:0002079Hypoplasia of the corpus callosum0GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM12319418986609471
HP:0002079HP:0002079Hypoplasia of the corpus callosum0GFER CL E G H2671330054ORPHA16964236600924
HP:0002079HP:0002079Hypoplasia of the corpus callosum0GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM11921813780606639
HP:0002079HP:0002079Hypoplasia of the corpus callosum0GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM164720134609588
HP:0002079HP:0002079Hypoplasia of the corpus callosum0GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM131774341138290
HP:0002079HP:0002079Hypoplasia of the corpus callosum0GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM1351544389139311
HP:0002079HP:0002079Hypoplasia of the corpus callosum0GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM1351544389139311
HP:0002079HP:0002079Hypoplasia of the corpus callosum0GPSM2 CL E G H29899604213Chudley-McCullough syndrome604213C1858695OMIM11115829501609245
HP:0002079HP:0002079Hypoplasia of the corpus callosum0GRIA4 CL E G H2893617864NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES617864CN800195OMIM15334574138246
HP:0002079HP:0002079Hypoplasia of the corpus callosum0GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM1393934584138249
HP:0002079HP:0002079Hypoplasia of the corpus callosum0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0002079HP:0002079Hypoplasia of the corpus callosum0HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM1147714348606441
HP:0002079HP:0002079Hypoplasia of the corpus callosum0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM12311327302615316
HP:0002079HP:0002079Hypoplasia of the corpus callosum0IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM148318550609382
HP:0002079HP:0002079Hypoplasia of the corpus callosum0IFIH1 CL E G H6413551ORPHA12828618873606951
HP:0002079HP:0002079Hypoplasia of the corpus callosum0IFT52 CL E G H51098617102Short-rib thoracic dysplasia 16 with or without polydactyly617102C4310718OMIM153415901617094
HP:0002079HP:0002079Hypoplasia of the corpus callosum0IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM1796225465147370
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM147537276614631
HP:0002079HP:0002079Hypoplasia of the corpus callosum0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM17284024565612452
HP:0002079HP:0002079Hypoplasia of the corpus callosum0KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM111736217602703
HP:0002079HP:0002079Hypoplasia of the corpus callosum0KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM14397818865608167
HP:0002079HP:0002079Hypoplasia of the corpus callosum0KCNT2 CL E G H343450617771EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57617771C4540411OMIM153718866610044
HP:0002079HP:0002079Hypoplasia of the corpus callosum0KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM1335818039605393
HP:0002079HP:0002079Hypoplasia of the corpus callosum0KIDINS220 CL E G H57498521390ORPHA1158429508615759
HP:0002079HP:0002079Hypoplasia of the corpus callosum0KIF1BP CL E G H26128609460Goldberg-Shprintzen megacolon syndrome609460C1836123OMIM11023419609367
HP:0002079HP:0002079Hypoplasia of the corpus callosum0KIF2A CL E G H3796615411Cortical dysplasia, complex, with other brain malformations 3615411C3809414OMIM171006318602591
HP:0002079HP:0002079Hypoplasia of the corpus callosum0KIF5C CL E G H3800615282Cortical dysplasia, complex, with other brain malformations 2615282C3809013OMIM16766325604593
HP:0002079HP:0002079Hypoplasia of the corpus callosum0KLHL7 CL E G H5597597297ORPHA11412715646611119
HP:0002079HP:0002079Hypoplasia of the corpus callosum0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1284066511603590
HP:0002079HP:0002079Hypoplasia of the corpus callosum0LNPK CL E G H80856618090NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM618090CN252703OMIM123321610610236
HP:0002079HP:0002079Hypoplasia of the corpus callosum0LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM1191319479605490
HP:0002079HP:0002079Hypoplasia of the corpus callosum0LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM194128072615831
HP:0002079HP:0002079Hypoplasia of the corpus callosum0MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM1353386842601263
HP:0002079HP:0002079Hypoplasia of the corpus callosum0MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM14606891605789
HP:0002079HP:0002079Hypoplasia of the corpus callosum0MBTPS2 CL E G H51360308205IFAP syndrome with or without BRESHECK syndrome308205C1839988OMIM12620715455300294
HP:0002079HP:0002079Hypoplasia of the corpus callosum0MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM19676971154100
HP:0002079HP:0002079Hypoplasia of the corpus callosum0MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM1529728845610197
HP:0002079HP:0002079Hypoplasia of the corpus callosum0MEF2C CL E G H4208228384ORPHA1892456996600662
HP:0002079HP:0002079Hypoplasia of the corpus callosum0MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM163325897614397
HP:0002079HP:0002079Hypoplasia of the corpus callosum0MOCS1 CL E G H4337252150Molybdenum cofactor deficiency, complementation group A252150C1854988OMIM1351817190603707
HP:0002079HP:0002079Hypoplasia of the corpus callosum0MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM1161187193603708
HP:0002079HP:0002079Hypoplasia of the corpus callosum0MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM1817324862601336
HP:0002079HP:0002079Hypoplasia of the corpus callosum0MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM198414508605810
HP:0002079HP:0002079Hypoplasia of the corpus callosum0NADK2 CL E G H133686431361ORPHA137026404615787
HP:0002079HP:0002079Hypoplasia of the corpus callosum0NDUFA2 CL E G H4695618235MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13618235OMIM14487685602137
HP:0002079HP:0002079Hypoplasia of the corpus callosum0NEXMIF CL E G H34053385277ORPHA14146829433300524
HP:0002079HP:0002079Hypoplasia of the corpus callosum0NFIA CL E G H4774613735Brain malformations and urinary tract defects613735C3151036OMIM117797784600727
HP:0002079HP:0002079Hypoplasia of the corpus callosum0NHLRC2 CL E G H374354618278618278618278OMIM1228247310
HP:0002079HP:0002079Hypoplasia of the corpus callosum0NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM181008022600417
HP:0002079HP:0002079Hypoplasia of the corpus callosum0OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM1174618028610107
HP:0002079HP:0002079Hypoplasia of the corpus callosum0OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM164724281612021
HP:0002079HP:0002079Hypoplasia of the corpus callosum0PAX6 CL E G H5080106210Aniridia 1106210C0344542OMIM15714968620607108
HP:0002079HP:0002079Hypoplasia of the corpus callosum0PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1612013406604918
HP:0002079HP:0002079Hypoplasia of the corpus callosum0PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM1293208957311770
HP:0002079HP:0002079Hypoplasia of the corpus callosum0PIGG CL E G H54872616917Mental retardation, autosomal recessive 53616917C4310794OMIM1640025985616918
HP:0002079HP:0002079Hypoplasia of the corpus callosum0PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM12733046605938
HP:0002079HP:0002079Hypoplasia of the corpus callosum0PIK3R2 CL E G H5296603387Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387C1863924OMIM191018980603157
HP:0002079HP:0002079Hypoplasia of the corpus callosum0PLAA CL E G H9373521426ORPHA13849043603873
HP:0002079HP:0002079Hypoplasia of the corpus callosum0PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM13849043603873
HP:0002079HP:0002079Hypoplasia of the corpus callosum0PNKP CL E G H11284613402Early infantile epileptic encephalopathy 10613402C3150667OMIM1245179154605610
HP:0002079HP:0002079Hypoplasia of the corpus callosum0POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15422718801614787
HP:0002079HP:0002079Hypoplasia of the corpus callosum0POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM1219220194610060
HP:0002079HP:0002079Hypoplasia of the corpus callosum0POLR3A CL E G H11128447896ORPHA19230630074614258
HP:0002079HP:0002079Hypoplasia of the corpus callosum0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM19230630074614258
HP:0002079HP:0002079Hypoplasia of the corpus callosum0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM15812730348614366
HP:0002079HP:0002079Hypoplasia of the corpus callosum0POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM15812730348614366
HP:0002079HP:0002079Hypoplasia of the corpus callosum0POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM1965089202607423
HP:0002079HP:0002079Hypoplasia of the corpus callosum0POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1965089202607423
HP:0002079HP:0002079Hypoplasia of the corpus callosum0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM17550219743607439
HP:0002079HP:0002079Hypoplasia of the corpus callosum0POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17550219743607439
HP:0002079HP:0002079Hypoplasia of the corpus callosum0PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM17519302605983
HP:0002079HP:0002079Hypoplasia of the corpus callosum0PRUNE1 CL E G H58497617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies617481C4479566OMIM1102713420617413
HP:0002079HP:0002079Hypoplasia of the corpus callosum0PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM1272209498176801
HP:0002079HP:0002079Hypoplasia of the corpus callosum0PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM1136330262616406
HP:0002079HP:0002079Hypoplasia of the corpus callosum0QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM1109751603727
HP:0002079HP:0002079Hypoplasia of the corpus callosum0RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM1515414244602207
HP:0002079HP:0002079Hypoplasia of the corpus callosum0RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM16719317063602536
HP:0002079HP:0002079Hypoplasia of the corpus callosum0RAB3GAP2 CL E G H25782614225Warburg micro syndrome 2614225C3280214OMIM11629417168609275
HP:0002079HP:0002079Hypoplasia of the corpus callosum0RARS CL E G H5917438114ORPHA1119870107820
HP:0002079HP:0002079Hypoplasia of the corpus callosum0RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM1119870107820
HP:0002079HP:0002079Hypoplasia of the corpus callosum0REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM121915578614825
HP:0002079HP:0002079Hypoplasia of the corpus callosum0RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM1251619965605226
HP:0002079HP:0002079Hypoplasia of the corpus callosum0RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM169318756607352
HP:0002079HP:0002079Hypoplasia of the corpus callosum0RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM1169721176614917
HP:0002079HP:0002079Hypoplasia of the corpus callosum0RNASEH2A CL E G H1053551ORPHA12113318518606034
HP:0002079HP:0002079Hypoplasia of the corpus callosum0RNASEH2B CL E G H7962151ORPHA14214925671610326
HP:0002079HP:0002079Hypoplasia of the corpus callosum0RNASEH2C CL E G H8415351ORPHA11511224116610330
HP:0002079HP:0002079Hypoplasia of the corpus callosum0RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM11511224116610330
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SACS CL E G H2627898ORPHA1264119110519604490
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SAMHD1 CL E G H2593951ORPHA15720015925606754
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM11942210590182391
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SEPSECS CL E G H51091613811Pontocerebellar hypoplasia type 2D613811C3151140OMIM11617430605613009
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SETBP1 CL E G H26040798ORPHA14721215573611060
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SETBP1 CL E G H26040269150Schinzel-Giedion syndrome269150C0265227OMIM14721215573611060
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM1115910892606326
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM184910940600300
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM184610942600229
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM123520662608744
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SLC35A2 CL E G H7355300896CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm300896C3806688OMIM11827311022314375
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM113954211055300036
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM135411056601019
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SMARCE1 CL E G H6605616938Coffin-Siris syndrome 5616938C4310788OMIM11328711109603111
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM122925763613176
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SNIP1 CL E G H79753614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism614501C3281055OMIM112830587608241
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SON CL E G H6651500150ORPHA12822411183182465
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SON CL E G H6651617140ZTTK syndrome617140C4310696OMIM12822411183182465
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM110510511195184429
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1293106511226610844
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SPG21 CL E G H51324101001ORPHA137920373608181
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM14093211273182810
HP:0002079HP:0002079Hypoplasia of the corpus callosum0STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM1204616950606247
HP:0002079HP:0002079Hypoplasia of the corpus callosum0STXBP1 CL E G H6812612164Early infantile epileptic encephalopathy 4612164C2677326OMIM119553811444602926
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SYNJ1 CL E G H8867617389Epileptic encephalopathy, early infantile, 53617389C4479313OMIM12745211503604297
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM146911536604912
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TARS2 CL E G H80222615918Combined oxidative phosphorylation deficiency 21615918C4014668OMIM137730740612805
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM1710216133611663
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM192525622617687
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM12317511581604649
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TBCE CL E G H6905496756ORPHA1816111582604934
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM1816111582604934
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TBCE CL E G H6905241410Hypoparathyroidism retardation dysmorphism syndrome241410C1855840OMIM1816111582604934
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM1169628261616899
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114862411634602272
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TECPR2 CL E G H9895615031Spastic paraplegia 49, autosomal recessive615031C3542549OMIM1831019957615000
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TGFB1 CL E G H7040618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY618213OMIM1354711766190180
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TMCO1 CL E G H544991394ORPHA153318188614123
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM153318188614123
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM135222407613413
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM1104426899617218
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM11212815954613931
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM133523066610397
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TRAPPC9 CL E G H83696352530ORPHA11829830832611966
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TRAPPC9 CL E G H83696613192Mental retardation, autosomal recessive 13613192C2750791OMIM11829830832611966
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TREX1 CL E G H1127751ORPHA17115312269606609
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM1515228422608753
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TUBA1A CL E G H7846611603Lissencephaly 3611603C1969029OMIM16819020766602529
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TUBB2A CL E G H7280615763Cortical dysplasia, complex, with other brain malformations 5615763C3810407OMIM179412412615101
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TUBB2B CL E G H347733610031Polymicrogyria, asymmetric610031C2750247OMIM13011430829612850
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TUBB3 CL E G H10381300570ORPHA12615520772602661
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM12615520772602661
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM1144212449604142
HP:0002079HP:0002079Hypoplasia of the corpus callosum0UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM1184823230610552
HP:0002079HP:0002079Hypoplasia of the corpus callosum0UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM1255413478608047
HP:0002079HP:0002079Hypoplasia of the corpus callosum0UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM132312511600673
HP:0002079HP:0002079Hypoplasia of the corpus callosum0VARS CL E G H7407617802NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY617802C4540493OMIM1812651192150
HP:0002079HP:0002079Hypoplasia of the corpus callosum0VPS11 CL E G H55823466934ORPHA135414583608549
HP:0002079HP:0002079Hypoplasia of the corpus callosum0VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM135414583608549
HP:0002079HP:0002079Hypoplasia of the corpus callosum0VPS53 CL E G H55275615851Pontocerebellar hypoplasia, type 2e615851C4014488OMIM1520425608615850
HP:0002079HP:0002079Hypoplasia of the corpus callosum0VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM144928385614884
HP:0002079HP:0002079Hypoplasia of the corpus callosum0WDR26 CL E G H80232617616SKRABAN-DEARDORFF SYNDROME617616C4539927OMIM1346921208617424
HP:0002079HP:0002079Hypoplasia of the corpus callosum0WDR45B CL E G H56270617977NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES617977CN244929OMIM144925072609226
HP:0002079HP:0002079Hypoplasia of the corpus callosum0WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM15140924502613583
HP:0002079HP:0002079Hypoplasia of the corpus callosum0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM1129525928616144
HP:0002079HP:0002079Hypoplasia of the corpus callosum0WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM11721126600614218
HP:0002079HP:0002079Hypoplasia of the corpus callosum0WT1 CL E G H7490106210Aniridia 1106210C0344542OMIM118463512796607102
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM12510913503606025
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ZEB2 CL E G H9839235730Mowat-Wilson syndrome235730C1856113OMIM129861314881605802
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ZFR CL E G H51663401840ORPHA125117277615635
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ZFYVE26 CL E G H23503100996ORPHA14570020761612012
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM14570020761612012
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ZNF148 CL E G H7707617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies617260C4310644OMIM144212933601897
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM119912309604500
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM126229316615951
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM111316066617036
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM119185118100850
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ADAR CL E G H10351ORPHA1229316225146920
HP:0002079HP:0002079Hypoplasia of the corpus callosum1AHCY CL E G H19188618ORPHA11594343180960
HP:0002079HP:0002079Hypoplasia of the corpus callosum1AHDC1 CL E G H27245615829Xia-Gibbs syndrome615829C4014419OMIM13418425230615790
HP:0002079HP:0002079Hypoplasia of the corpus callosum1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM136620609600859
HP:0002079HP:0002079Hypoplasia of the corpus callosum1AKT3 CL E G H10000615937Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2615937C4014738OMIM128175393611223
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM161307179603178
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ALX4 CL E G H60529613451Frontonasal dysplasia 2613451C3150703OMIM127221450605420
HP:0002079HP:0002079Hypoplasia of the corpus callosum1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM11898469102771
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA113472121316611192
HP:0002079HP:0002079Hypoplasia of the corpus callosum1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM121140572607245
HP:0002079HP:0002079Hypoplasia of the corpus callosum1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM115150574602296
HP:0002079HP:0002079Hypoplasia of the corpus callosum1AP5Z1 CL E G H9907306511ORPHA11653622197613653
HP:0002079HP:0002079Hypoplasia of the corpus callosum1AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM11653622197613653
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ARFGEF2 CL E G H10564608097Heterotopia, periventricular, autosomal recessive608097C1842563OMIM11532015853605371
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM1710329216610911
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM164916876606036
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ARSI CL E G H340075401815ORPHA127032521610009
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM12798753108370
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM121379019048605481
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ASXL1 CL E G H17102397297ORPHA14119918318612990
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM14119918318612990
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM15017429357615115
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ATP13A2 CL E G H23400513436ORPHA14436530213610513
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM1622618305300556
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1947851607027
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1947851607027
HP:0002079HP:0002079Hypoplasia of the corpus callosum1BICD2 CL E G H23299618291618291618291OMIM13532317208609797
HP:0002079HP:0002079Hypoplasia of the corpus callosum1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM11848221701614506
HP:0002079HP:0002079Hypoplasia of the corpus callosum1C12orf65 CL E G H91574320375ORPHA11111426784613541
HP:0002079HP:0002079Hypoplasia of the corpus callosum1C2CD3 CL E G H26005615948Orofaciodigital syndrome xiv615948C4014780OMIM11012324564615944
HP:0002079HP:0002079Hypoplasia of the corpus callosum1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM1436025695612800
HP:0002079HP:0002079Hypoplasia of the corpus callosum1CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM114128033616735
HP:0002079HP:0002079Hypoplasia of the corpus callosum1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM145625523609736
HP:0002079HP:0002079Hypoplasia of the corpus callosum1CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM111331736116952
HP:0002079HP:0002079Hypoplasia of the corpus callosum1CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM1221251733603309
HP:0002079HP:0002079Hypoplasia of the corpus callosum1CEP120 CL E G H153241617761JOUBERT SYNDROME 31617761C4540355OMIM198726690613446
HP:0002079HP:0002079Hypoplasia of the corpus callosum1CEP290 CL E G H80184611134Meckel syndrome type 4611134C1970161OMIM131088429021610142
HP:0002079HP:0002079Hypoplasia of the corpus callosum1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM131068740164010
HP:0002079HP:0002079Hypoplasia of the corpus callosum1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM123216999608757
HP:0002079HP:0002079Hypoplasia of the corpus callosum1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM121758011602346
HP:0002079HP:0002079Hypoplasia of the corpus callosum1CNTNAP1 CL E G H8506616286Lethal congenital contracture syndrome 7616286C4225386OMIM121758011602346
HP:0002079HP:0002079Hypoplasia of the corpus callosum1COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM137629932609855
HP:0002079HP:0002079Hypoplasia of the corpus callosum1COG2 CL E G H22796435934ORPHA12916546606974
HP:0002079HP:0002079Hypoplasia of the corpus callosum1COG2 CL E G H22796617395CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq617395C4479353OMIM12916546606974
HP:0002079HP:0002079Hypoplasia of the corpus callosum1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM1515918622606978
HP:0002079HP:0002079Hypoplasia of the corpus callosum1COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM14332232606990
HP:0002079HP:0002079Hypoplasia of the corpus callosum1CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM12725726193611654
HP:0002079HP:0002079Hypoplasia of the corpus callosum1CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM16452510114025
HP:0002079HP:0002079Hypoplasia of the corpus callosum1CTNNB1 CL E G H1499615075Mental retardation, autosomal dominant 19615075C3554449OMIM1541802514116806
HP:0002079HP:0002079Hypoplasia of the corpus callosum1DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM1113012666128239
HP:0002079HP:0002079Hypoplasia of the corpus callosum1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM1182678603084
HP:0002079HP:0002079Hypoplasia of the corpus callosum1DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0002079HP:0002079Hypoplasia of the corpus callosum1DDHD2 CL E G H23259320380ORPHA11915229106615003
HP:0002079HP:0002079Hypoplasia of the corpus callosum1DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM11915229106615003
HP:0002079HP:0002079Hypoplasia of the corpus callosum1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0002079HP:0002079Hypoplasia of the corpus callosum1DIAPH1 CL E G H1729616632Seizures, cortical blindness, and microcephaly syndrome616632C4225261OMIM1153592876602121
HP:0002079HP:0002079Hypoplasia of the corpus callosum1DOCK7 CL E G H85440615859Epileptic encephalopathy, early infantile, 23615859C4014492OMIM1744619190615730
HP:0002079HP:0002079Hypoplasia of the corpus callosum1EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM13017929419612799
HP:0002079HP:0002079Hypoplasia of the corpus callosum1EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM11181813226300035
HP:0002079HP:0002079Hypoplasia of the corpus callosum1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM151783267300161
HP:0002079HP:0002079Hypoplasia of the corpus callosum1EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM1712028957616846
HP:0002079HP:0002079Hypoplasia of the corpus callosum1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM163418138295
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ERMARD CL E G H5578075857ORPHA1214521056615532
HP:0002079HP:0002079Hypoplasia of the corpus callosum1EXOSC8 CL E G H11340616081Pontocerebellar hypoplasia, type 1c616081C4015160OMIM136017035606019
HP:0002079HP:0002079Hypoplasia of the corpus callosum1FA2H CL E G H79152171629ORPHA15419421197611026
HP:0002079HP:0002079Hypoplasia of the corpus callosum1FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM15419421197611026
HP:0002079HP:0002079Hypoplasia of the corpus callosum1FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0002079HP:0002079Hypoplasia of the corpus callosum1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM14843413601605654
HP:0002079HP:0002079Hypoplasia of the corpus callosum1FGFR1 CL E G H2260613001Encephalocraniocutaneous lipomatosis613001C0406612OMIM12653883688136350
HP:0002079HP:0002079Hypoplasia of the corpus callosum1FGFR3 CL E G H226185165ORPHA1774313690134934
HP:0002079HP:0002079Hypoplasia of the corpus callosum1FGFR3 CL E G H2261616482Severe achondroplasia with developmental delay and acanthosis nigricans616482C2674173OMIM1774313690134934
HP:0002079HP:0002079Hypoplasia of the corpus callosum1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114140217997606596
HP:0002079HP:0002079Hypoplasia of the corpus callosum1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1594503622607440
HP:0002079HP:0002079Hypoplasia of the corpus callosum1FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1215103627310607273
HP:0002079HP:0002079Hypoplasia of the corpus callosum1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM11693573811164874
HP:0002079HP:0002079Hypoplasia of the corpus callosum1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM1626529007300838
HP:0002079HP:0002079Hypoplasia of the corpus callosum1GABRB1 CL E G H2560617153Epileptic encephalopathy, early infantile, 45617153C4310691OMIM15424081137190
HP:0002079HP:0002079Hypoplasia of the corpus callosum1GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM12319418986609471
HP:0002079HP:0002079Hypoplasia of the corpus callosum1GFER CL E G H2671330054ORPHA16964236600924
HP:0002079HP:0002079Hypoplasia of the corpus callosum1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM11921813780606639
HP:0002079HP:0002079Hypoplasia of the corpus callosum1GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM164720134609588
HP:0002079HP:0002079Hypoplasia of the corpus callosum1GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM131774341138290
HP:0002079HP:0002079Hypoplasia of the corpus callosum1GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM1351544389139311
HP:0002079HP:0002079Hypoplasia of the corpus callosum1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM1351544389139311
HP:0002079HP:0002079Hypoplasia of the corpus callosum1GPSM2 CL E G H29899604213Chudley-McCullough syndrome604213C1858695OMIM11115829501609245
HP:0002079HP:0002079Hypoplasia of the corpus callosum1GRIA4 CL E G H2893617864NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES617864CN800195OMIM15334574138246
HP:0002079HP:0002079Hypoplasia of the corpus callosum1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM1393934584138249
HP:0002079HP:0002079Hypoplasia of the corpus callosum1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0002079HP:0002079Hypoplasia of the corpus callosum1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM1147714348606441
HP:0002079HP:0002079Hypoplasia of the corpus callosum1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM12311327302615316
HP:0002079HP:0002079Hypoplasia of the corpus callosum1IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM148318550609382
HP:0002079HP:0002079Hypoplasia of the corpus callosum1IFIH1 CL E G H6413551ORPHA12828618873606951
HP:0002079HP:0002079Hypoplasia of the corpus callosum1IFT52 CL E G H51098617102Short-rib thoracic dysplasia 16 with or without polydactyly617102C4310718OMIM153415901617094
HP:0002079HP:0002079Hypoplasia of the corpus callosum1IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM1796225465147370
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM147537276614631
HP:0002079HP:0002079Hypoplasia of the corpus callosum1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM17284024565612452
HP:0002079HP:0002079Hypoplasia of the corpus callosum1KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM111736217602703
HP:0002079HP:0002079Hypoplasia of the corpus callosum1KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM14397818865608167
HP:0002079HP:0002079Hypoplasia of the corpus callosum1KCNT2 CL E G H343450617771EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57617771C4540411OMIM153718866610044
HP:0002079HP:0002079Hypoplasia of the corpus callosum1KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM1335818039605393
HP:0002079HP:0002079Hypoplasia of the corpus callosum1KIDINS220 CL E G H57498521390ORPHA1158429508615759
HP:0002079HP:0002079Hypoplasia of the corpus callosum1KIF1BP CL E G H26128609460Goldberg-Shprintzen megacolon syndrome609460C1836123OMIM11023419609367
HP:0002079HP:0002079Hypoplasia of the corpus callosum1KIF2A CL E G H3796615411Cortical dysplasia, complex, with other brain malformations 3615411C3809414OMIM171006318602591
HP:0002079HP:0002079Hypoplasia of the corpus callosum1KIF5C CL E G H3800615282Cortical dysplasia, complex, with other brain malformations 2615282C3809013OMIM16766325604593
HP:0002079HP:0002079Hypoplasia of the corpus callosum1KLHL7 CL E G H5597597297ORPHA11412715646611119
HP:0002079HP:0002079Hypoplasia of the corpus callosum1LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1284066511603590
HP:0002079HP:0002079Hypoplasia of the corpus callosum1LNPK CL E G H80856618090NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM618090CN252703OMIM123321610610236
HP:0002079HP:0002079Hypoplasia of the corpus callosum1LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM1191319479605490
HP:0002079HP:0002079Hypoplasia of the corpus callosum1LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM194128072615831
HP:0002079HP:0002079Hypoplasia of the corpus callosum1MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM1353386842601263
HP:0002079HP:0002079Hypoplasia of the corpus callosum1MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM14606891605789
HP:0002079HP:0002079Hypoplasia of the corpus callosum1MBTPS2 CL E G H51360308205IFAP syndrome with or without BRESHECK syndrome308205C1839988OMIM12620715455300294
HP:0002079HP:0002079Hypoplasia of the corpus callosum1MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM19676971154100
HP:0002079HP:0002079Hypoplasia of the corpus callosum1MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM1529728845610197
HP:0002079HP:0002079Hypoplasia of the corpus callosum1MEF2C CL E G H4208228384ORPHA1892456996600662
HP:0002079HP:0002079Hypoplasia of the corpus callosum1MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM163325897614397
HP:0002079HP:0002079Hypoplasia of the corpus callosum1MOCS1 CL E G H4337252150Molybdenum cofactor deficiency, complementation group A252150C1854988OMIM1351817190603707
HP:0002079HP:0002079Hypoplasia of the corpus callosum1MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM1161187193603708
HP:0002079HP:0002079Hypoplasia of the corpus callosum1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM1817324862601336
HP:0002079HP:0002079Hypoplasia of the corpus callosum1MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM198414508605810
HP:0002079HP:0002079Hypoplasia of the corpus callosum1NADK2 CL E G H133686431361ORPHA137026404615787
HP:0002079HP:0002079Hypoplasia of the corpus callosum1NDUFA2 CL E G H4695618235MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13618235OMIM14487685602137
HP:0002079HP:0002079Hypoplasia of the corpus callosum1NEXMIF CL E G H34053385277ORPHA14146829433300524
HP:0002079HP:0002079Hypoplasia of the corpus callosum1NFIA CL E G H4774613735Brain malformations and urinary tract defects613735C3151036OMIM117797784600727
HP:0002079HP:0002079Hypoplasia of the corpus callosum1NHLRC2 CL E G H374354618278618278618278OMIM1228247310
HP:0002079HP:0002079Hypoplasia of the corpus callosum1NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM181008022600417
HP:0002079HP:0002079Hypoplasia of the corpus callosum1OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM1174618028610107
HP:0002079HP:0002079Hypoplasia of the corpus callosum1OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM164724281612021
HP:0002079HP:0002079Hypoplasia of the corpus callosum1PAX6 CL E G H5080106210Aniridia 1106210C0344542OMIM15714968620607108
HP:0002079HP:0002079Hypoplasia of the corpus callosum1PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1612013406604918
HP:0002079HP:0002079Hypoplasia of the corpus callosum1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM1293208957311770
HP:0002079HP:0002079Hypoplasia of the corpus callosum1PIGG CL E G H54872616917Mental retardation, autosomal recessive 53616917C4310794OMIM1640025985616918
HP:0002079HP:0002079Hypoplasia of the corpus callosum1PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM12733046605938
HP:0002079HP:0002079Hypoplasia of the corpus callosum1PIK3R2 CL E G H5296603387Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387C1863924OMIM191018980603157
HP:0002079HP:0002079Hypoplasia of the corpus callosum1PLAA CL E G H9373521426ORPHA13849043603873
HP:0002079HP:0002079Hypoplasia of the corpus callosum1PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM13849043603873
HP:0002079HP:0002079Hypoplasia of the corpus callosum1PNKP CL E G H11284613402Early infantile epileptic encephalopathy 10613402C3150667OMIM1245179154605610
HP:0002079HP:0002079Hypoplasia of the corpus callosum1POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15422718801614787
HP:0002079HP:0002079Hypoplasia of the corpus callosum1POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM1219220194610060
HP:0002079HP:0002079Hypoplasia of the corpus callosum1POLR3A CL E G H11128447896ORPHA19230630074614258
HP:0002079HP:0002079Hypoplasia of the corpus callosum1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM19230630074614258
HP:0002079HP:0002079Hypoplasia of the corpus callosum1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM15812730348614366
HP:0002079HP:0002079Hypoplasia of the corpus callosum1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM15812730348614366
HP:0002079HP:0002079Hypoplasia of the corpus callosum1POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM1965089202607423
HP:0002079HP:0002079Hypoplasia of the corpus callosum1POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1965089202607423
HP:0002079HP:0002079Hypoplasia of the corpus callosum1POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM17550219743607439
HP:0002079HP:0002079Hypoplasia of the corpus callosum1POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17550219743607439
HP:0002079HP:0002079Hypoplasia of the corpus callosum1PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM17519302605983
HP:0002079HP:0002079Hypoplasia of the corpus callosum1PRUNE1 CL E G H58497617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies617481C4479566OMIM1102713420617413
HP:0002079HP:0002079Hypoplasia of the corpus callosum1PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM1272209498176801
HP:0002079HP:0002079Hypoplasia of the corpus callosum1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM1136330262616406
HP:0002079HP:0002079Hypoplasia of the corpus callosum1QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM1109751603727
HP:0002079HP:0002079Hypoplasia of the corpus callosum1RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM1515414244602207
HP:0002079HP:0002079Hypoplasia of the corpus callosum1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM16719317063602536
HP:0002079HP:0002079Hypoplasia of the corpus callosum1RAB3GAP2 CL E G H25782614225Warburg micro syndrome 2614225C3280214OMIM11629417168609275
HP:0002079HP:0002079Hypoplasia of the corpus callosum1RARS CL E G H5917438114ORPHA1119870107820
HP:0002079HP:0002079Hypoplasia of the corpus callosum1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM1119870107820
HP:0002079HP:0002079Hypoplasia of the corpus callosum1REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM121915578614825
HP:0002079HP:0002079Hypoplasia of the corpus callosum1RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM1251619965605226
HP:0002079HP:0002079Hypoplasia of the corpus callosum1RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM169318756607352
HP:0002079HP:0002079Hypoplasia of the corpus callosum1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM1169721176614917
HP:0002079HP:0002079Hypoplasia of the corpus callosum1RNASEH2A CL E G H1053551ORPHA12113318518606034
HP:0002079HP:0002079Hypoplasia of the corpus callosum1RNASEH2B CL E G H7962151ORPHA14214925671610326
HP:0002079HP:0002079Hypoplasia of the corpus callosum1RNASEH2C CL E G H8415351ORPHA11511224116610330
HP:0002079HP:0002079Hypoplasia of the corpus callosum1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM11511224116610330
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SACS CL E G H2627898ORPHA1264119110519604490
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SAMHD1 CL E G H2593951ORPHA15720015925606754
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM11942210590182391
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SEPSECS CL E G H51091613811Pontocerebellar hypoplasia type 2D613811C3151140OMIM11617430605613009
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SETBP1 CL E G H26040798ORPHA14721215573611060
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SETBP1 CL E G H26040269150Schinzel-Giedion syndrome269150C0265227OMIM14721215573611060
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM1115910892606326
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM184910940600300
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM184610942600229
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM123520662608744
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SLC35A2 CL E G H7355300896CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm300896C3806688OMIM11827311022314375
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM113954211055300036
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM135411056601019
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SMARCE1 CL E G H6605616938Coffin-Siris syndrome 5616938C4310788OMIM11328711109603111
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM122925763613176
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SNIP1 CL E G H79753614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism614501C3281055OMIM112830587608241
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SON CL E G H6651500150ORPHA12822411183182465
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SON CL E G H6651617140ZTTK syndrome617140C4310696OMIM12822411183182465
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM110510511195184429
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1293106511226610844
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SPG21 CL E G H51324101001ORPHA137920373608181
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM14093211273182810
HP:0002079HP:0002079Hypoplasia of the corpus callosum1STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM1204616950606247
HP:0002079HP:0002079Hypoplasia of the corpus callosum1STXBP1 CL E G H6812612164Early infantile epileptic encephalopathy 4612164C2677326OMIM119553811444602926
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SYNJ1 CL E G H8867617389Epileptic encephalopathy, early infantile, 53617389C4479313OMIM12745211503604297
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM146911536604912
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TARS2 CL E G H80222615918Combined oxidative phosphorylation deficiency 21615918C4014668OMIM137730740612805
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM1710216133611663
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM192525622617687
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM12317511581604649
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TBCE CL E G H6905496756ORPHA1816111582604934
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM1816111582604934
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TBCE CL E G H6905241410Hypoparathyroidism retardation dysmorphism syndrome241410C1855840OMIM1816111582604934
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM1169628261616899
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114862411634602272
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TECPR2 CL E G H9895615031Spastic paraplegia 49, autosomal recessive615031C3542549OMIM1831019957615000
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TGFB1 CL E G H7040618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY618213OMIM1354711766190180
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TMCO1 CL E G H544991394ORPHA153318188614123
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM153318188614123
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM135222407613413
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM1104426899617218
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM11212815954613931
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM133523066610397
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TRAPPC9 CL E G H83696352530ORPHA11829830832611966
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TRAPPC9 CL E G H83696613192Mental retardation, autosomal recessive 13613192C2750791OMIM11829830832611966
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TREX1 CL E G H1127751ORPHA17115312269606609
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM1515228422608753
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TUBA1A CL E G H7846611603Lissencephaly 3611603C1969029OMIM16819020766602529
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TUBB2A CL E G H7280615763Cortical dysplasia, complex, with other brain malformations 5615763C3810407OMIM179412412615101
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TUBB2B CL E G H347733610031Polymicrogyria, asymmetric610031C2750247OMIM13011430829612850
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TUBB3 CL E G H10381300570ORPHA12615520772602661
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM12615520772602661
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM1144212449604142
HP:0002079HP:0002079Hypoplasia of the corpus callosum1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM1184823230610552
HP:0002079HP:0002079Hypoplasia of the corpus callosum1UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM1255413478608047
HP:0002079HP:0002079Hypoplasia of the corpus callosum1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM132312511600673
HP:0002079HP:0002079Hypoplasia of the corpus callosum1VARS CL E G H7407617802NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY617802C4540493OMIM1812651192150
HP:0002079HP:0002079Hypoplasia of the corpus callosum1VPS11 CL E G H55823466934ORPHA135414583608549
HP:0002079HP:0002079Hypoplasia of the corpus callosum1VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM135414583608549
HP:0002079HP:0002079Hypoplasia of the corpus callosum1VPS53 CL E G H55275615851Pontocerebellar hypoplasia, type 2e615851C4014488OMIM1520425608615850
HP:0002079HP:0002079Hypoplasia of the corpus callosum1VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM144928385614884
HP:0002079HP:0002079Hypoplasia of the corpus callosum1WDR26 CL E G H80232617616SKRABAN-DEARDORFF SYNDROME617616C4539927OMIM1346921208617424
HP:0002079HP:0002079Hypoplasia of the corpus callosum1WDR45B CL E G H56270617977NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES617977CN244929OMIM144925072609226
HP:0002079HP:0002079Hypoplasia of the corpus callosum1WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM15140924502613583
HP:0002079HP:0002079Hypoplasia of the corpus callosum1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM1129525928616144
HP:0002079HP:0002079Hypoplasia of the corpus callosum1WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM11721126600614218
HP:0002079HP:0002079Hypoplasia of the corpus callosum1WT1 CL E G H7490106210Aniridia 1106210C0344542OMIM118463512796607102
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM12510913503606025
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ZEB2 CL E G H9839235730Mowat-Wilson syndrome235730C1856113OMIM129861314881605802
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ZFR CL E G H51663401840ORPHA125117277615635
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ZFYVE26 CL E G H23503100996ORPHA14570020761612012
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM14570020761612012
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ZNF148 CL E G H7707617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies617260C4310644OMIM144212933601897
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM119912309604500
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM126229316615951
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002079HP:0002079Hypoplasia of the corpus callosum0AMPD2 CL E G H271615686Spastic paraplegia 63, autosomal recessive615686C3810295OMIM01898469102771
HP:0002079HP:0002079Hypoplasia of the corpus callosum0AP3B2 CL E G H8120617276Epileptic encephalopathy, early infantile, 48617276C4310637OMIM01290567602166
HP:0002079HP:0002079Hypoplasia of the corpus callosum0AP4B1 CL E G H10717280763ORPHA021140572607245
HP:0002079HP:0002079Hypoplasia of the corpus callosum0AP4E1 CL E G H23431280763ORPHA018178573607244
HP:0002079HP:0002079Hypoplasia of the corpus callosum0AP4M1 CL E G H9179280763ORPHA015150574602296
HP:0002079HP:0002079Hypoplasia of the corpus callosum0AP4S1 CL E G H11154280763ORPHA0859575607243
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ARID1A CL E G H82891465ORPHA03617511110603024
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ARID1B CL E G H574921465ORPHA018857518040614556
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ARID2 CL E G H1965281465ORPHA01111518037609539
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM08522011231606439
HP:0002079HP:0002079Hypoplasia of the corpus callosum0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM05541520893300485
HP:0002079HP:0002079Hypoplasia of the corpus callosum0C12orf65 CL E G H91574615035Spastic paraplegia 55, autosomal recessive615035C3539506OMIM01111426784613541
HP:0002079HP:0002079Hypoplasia of the corpus callosum0CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM07691770603464
HP:0002079HP:0002079Hypoplasia of the corpus callosum0COG4 CL E G H25839263501ORPHA0614118620606976
HP:0002079HP:0002079Hypoplasia of the corpus callosum0COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM0614118620606976
HP:0002079HP:0002079Hypoplasia of the corpus callosum0COX7B CL E G H1349300887Linear skin defects with multiple congenital anomalies 2300887C3550921OMIM051642291300885
HP:0002079HP:0002079Hypoplasia of the corpus callosum0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM0402472555300304
HP:0002079HP:0002079Hypoplasia of the corpus callosum0CYP2U1 CL E G H113612320411ORPHA0198520582610670
HP:0002079HP:0002079Hypoplasia of the corpus callosum0CYP2U1 CL E G H113612615030Spastic paraplegia 56, autosomal recessive615030C3539507OMIM0198520582610670
HP:0002079HP:0002079Hypoplasia of the corpus callosum0DDX3X CL E G H1654457260ORPHA0783372745300160
HP:0002079HP:0002079Hypoplasia of the corpus callosum0DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM0783372745300160
HP:0002079HP:0002079Hypoplasia of the corpus callosum0DPF2 CL E G H59771465ORPHA09149964601671
HP:0002079HP:0002079Hypoplasia of the corpus callosum0DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM07714532961600112
HP:0002079HP:0002079Hypoplasia of the corpus callosum0EFNB1 CL E G H19471520ORPHA01181813226300035
HP:0002079HP:0002079Hypoplasia of the corpus callosum0ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM0151031356611605
HP:0002079HP:0002079Hypoplasia of the corpus callosum0GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM05713317494608803
HP:0002079HP:0002079Hypoplasia of the corpus callosum0GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA0105818062138210
HP:0002079HP:0002079Hypoplasia of the corpus callosum0GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM0105818062138210
HP:0002079HP:0002079Hypoplasia of the corpus callosum0GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM0393934584138249
HP:0002079HP:0002079Hypoplasia of the corpus callosum0HACE1 CL E G H57531464282ORPHA0136321033610876
HP:0002079HP:0002079Hypoplasia of the corpus callosum0HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM0136321033610876
HP:0002079HP:0002079Hypoplasia of the corpus callosum0HIC1 CL E G H3090531Acute myeloblastic leukemia type 6ORPHA0764909603825
HP:0002079HP:0002079Hypoplasia of the corpus callosum0HIVEP2 CL E G H3097616977Mental retardation, autosomal dominant 43616977C4310771OMIM0151444921143054
HP:0002079HP:0002079Hypoplasia of the corpus callosum0IBA57 CL E G H200205468661ORPHA02311327302615316
HP:0002079HP:0002079Hypoplasia of the corpus callosum0KCNQ2 CL E G H3785439218ORPHA031410566296602235
HP:0002079HP:0002079Hypoplasia of the corpus callosum0KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM031410566296602235
HP:0002079HP:0002079Hypoplasia of the corpus callosum0KCTD7 CL E G H154881611726Epilepsy, progressive myoclonic 3611726C2673257OMIM02124821957611725
HP:0002079HP:0002079Hypoplasia of the corpus callosum0KDM1A CL E G H23028616728Cleft palate, psychomotor retardation, and distinctive facial features616728C4225229OMIM0173729079609132
HP:0002079HP:0002079Hypoplasia of the corpus callosum0KIF1BP CL E G H2612866629ORPHA01023419609367
HP:0002079HP:0002079Hypoplasia of the corpus callosum0NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM0126119237605202
HP:0002079HP:0002079Hypoplasia of the corpus callosum0NEDD4L CL E G H23327617201Periventricular nodular heterotopia 7617201C4310669OMIM0102937728606384
HP:0002079HP:0002079Hypoplasia of the corpus callosum0NKX6-2 CL E G H84504527497ORPHA0910419321605955
HP:0002079HP:0002079Hypoplasia of the corpus callosum0PAFAH1B1 CL E G H5048217385ORPHA01702558574601545
HP:0002079HP:0002079Hypoplasia of the corpus callosum0PAFAH1B1 CL E G H5048531Acute myeloblastic leukemia type 6ORPHA01702558574601545
HP:0002079HP:0002079Hypoplasia of the corpus callosum0PAH CL E G H50532209Exsudative retinopathy familial, autosomal recessiveORPHA09809208582612349
HP:0002079HP:0002079Hypoplasia of the corpus callosum0PCNT CL E G H51162637HemimegalencephalyORPHA08888516068605925
HP:0002079HP:0002079Hypoplasia of the corpus callosum0PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM01210525712611655
HP:0002079HP:0002079Hypoplasia of the corpus callosum0PHGDH CL E G H2622779351ORPHA0231458923606879
HP:0002079HP:0002079Hypoplasia of the corpus callosum0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA0344168967606097
HP:0002079HP:0002079Hypoplasia of the corpus callosum0PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM053414951613257
HP:0002079HP:0002079Hypoplasia of the corpus callosum0PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM0115749413600899
HP:0002079HP:0002079Hypoplasia of the corpus callosum0PUF60 CL E G H22827508488ORPHA03212917042604819
HP:0002079HP:0002079Hypoplasia of the corpus callosum0RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM017699801602048
HP:0002079HP:0002079Hypoplasia of the corpus callosum0RAI1 CL E G H107431713ORPHA01164049834607642
HP:0002079HP:0002079Hypoplasia of the corpus callosum0RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA0111311959884614041
HP:0002079HP:0002079Hypoplasia of the corpus callosum0RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM048223625611053
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SHOC2 CL E G H8036607721Noonan syndrome-like disorder with loose anagen hair 1607721C1843181OMIM0418415454602775
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SMARCA4 CL E G H65971465ORPHA057247311100603254
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SMARCB1 CL E G H65981465ORPHA011948211103601607
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SMARCE1 CL E G H66051465ORPHA01328711109603111
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SOX11 CL E G H66641465ORPHA0147011191600898
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM02828618119613940
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SPG11 CL E G H80208616668Charcot-Marie-Tooth disease, axonal type 2X616668C4225253OMIM0293106511226610844
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SSR4 CL E G H6748370927ORPHA0725011326300090
HP:0002079HP:0002079Hypoplasia of the corpus callosum0SSR4 CL E G H6748300934Congenital disorder of glycosylation type 1y300934C4012395OMIM0725011326300090
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM01724011535313650
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TECPR2 CL E G H9895320385ORPHA0831019957615000
HP:0002079HP:0002079Hypoplasia of the corpus callosum0TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM083320778191130
HP:0002079HP:0002079Hypoplasia of the corpus callosum0UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM02620426582612636
HP:0002079HP:0002079Hypoplasia of the corpus callosum0USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM02826912632300072
HP:0002079HP:0002079Hypoplasia of the corpus callosum0WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM0257717327615049
HP:0002079HP:0002079Hypoplasia of the corpus callosum0WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM05059612799605131
HP:0002079HP:0002079Hypoplasia of the corpus callosum0YWHAE CL E G H7531217385ORPHA04414612851605066
HP:0002079HP:0002079Hypoplasia of the corpus callosum0YWHAE CL E G H7531531Acute myeloblastic leukemia type 6ORPHA04414612851605066
HP:0002079HP:0002079Hypoplasia of the corpus callosum1AMPD2 CL E G H271615686Spastic paraplegia 63, autosomal recessive615686C3810295OMIM01898469102771
HP:0002079HP:0002079Hypoplasia of the corpus callosum1AP3B2 CL E G H8120617276Epileptic encephalopathy, early infantile, 48617276C4310637OMIM01290567602166
HP:0002079HP:0002079Hypoplasia of the corpus callosum1AP4B1 CL E G H10717280763ORPHA021140572607245
HP:0002079HP:0002079Hypoplasia of the corpus callosum1AP4E1 CL E G H23431280763ORPHA018178573607244
HP:0002079HP:0002079Hypoplasia of the corpus callosum1AP4M1 CL E G H9179280763ORPHA015150574602296
HP:0002079HP:0002079Hypoplasia of the corpus callosum1AP4S1 CL E G H11154280763ORPHA0859575607243
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ARID1A CL E G H82891465ORPHA03617511110603024
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ARID1B CL E G H574921465ORPHA018857518040614556
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ARID2 CL E G H1965281465ORPHA01111518037609539
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM08522011231606439
HP:0002079HP:0002079Hypoplasia of the corpus callosum1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM05541520893300485
HP:0002079HP:0002079Hypoplasia of the corpus callosum1C12orf65 CL E G H91574615035Spastic paraplegia 55, autosomal recessive615035C3539506OMIM01111426784613541
HP:0002079HP:0002079Hypoplasia of the corpus callosum1CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM07691770603464
HP:0002079HP:0002079Hypoplasia of the corpus callosum1COG4 CL E G H25839263501ORPHA0614118620606976
HP:0002079HP:0002079Hypoplasia of the corpus callosum1COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM0614118620606976
HP:0002079HP:0002079Hypoplasia of the corpus callosum1COX7B CL E G H1349300887Linear skin defects with multiple congenital anomalies 2300887C3550921OMIM051642291300885
HP:0002079HP:0002079Hypoplasia of the corpus callosum1CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM0402472555300304
HP:0002079HP:0002079Hypoplasia of the corpus callosum1CYP2U1 CL E G H113612320411ORPHA0198520582610670
HP:0002079HP:0002079Hypoplasia of the corpus callosum1CYP2U1 CL E G H113612615030Spastic paraplegia 56, autosomal recessive615030C3539507OMIM0198520582610670
HP:0002079HP:0002079Hypoplasia of the corpus callosum1DDX3X CL E G H1654457260ORPHA0783372745300160
HP:0002079HP:0002079Hypoplasia of the corpus callosum1DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM0783372745300160
HP:0002079HP:0002079Hypoplasia of the corpus callosum1DPF2 CL E G H59771465ORPHA09149964601671
HP:0002079HP:0002079Hypoplasia of the corpus callosum1DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM07714532961600112
HP:0002079HP:0002079Hypoplasia of the corpus callosum1EFNB1 CL E G H19471520ORPHA01181813226300035
HP:0002079HP:0002079Hypoplasia of the corpus callosum1ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM0151031356611605
HP:0002079HP:0002079Hypoplasia of the corpus callosum1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM05713317494608803
HP:0002079HP:0002079Hypoplasia of the corpus callosum1GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA0105818062138210
HP:0002079HP:0002079Hypoplasia of the corpus callosum1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM0105818062138210
HP:0002079HP:0002079Hypoplasia of the corpus callosum1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM0393934584138249
HP:0002079HP:0002079Hypoplasia of the corpus callosum1HACE1 CL E G H57531464282ORPHA0136321033610876
HP:0002079HP:0002079Hypoplasia of the corpus callosum1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM0136321033610876
HP:0002079HP:0002079Hypoplasia of the corpus callosum1HIC1 CL E G H3090531Acute myeloblastic leukemia type 6ORPHA0764909603825
HP:0002079HP:0002079Hypoplasia of the corpus callosum1HIVEP2 CL E G H3097616977Mental retardation, autosomal dominant 43616977C4310771OMIM0151444921143054
HP:0002079HP:0002079Hypoplasia of the corpus callosum1IBA57 CL E G H200205468661ORPHA02311327302615316
HP:0002079HP:0002079Hypoplasia of the corpus callosum1KCNQ2 CL E G H3785439218ORPHA031410566296602235
HP:0002079HP:0002079Hypoplasia of the corpus callosum1KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM031410566296602235
HP:0002079HP:0002079Hypoplasia of the corpus callosum1KCTD7 CL E G H154881611726Epilepsy, progressive myoclonic 3611726C2673257OMIM02124821957611725
HP:0002079HP:0002079Hypoplasia of the corpus callosum1KDM1A CL E G H23028616728Cleft palate, psychomotor retardation, and distinctive facial features616728C4225229OMIM0173729079609132
HP:0002079HP:0002079Hypoplasia of the corpus callosum1KIF1BP CL E G H2612866629ORPHA01023419609367
HP:0002079HP:0002079Hypoplasia of the corpus callosum1NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM0126119237605202
HP:0002079HP:0002079Hypoplasia of the corpus callosum1NEDD4L CL E G H23327617201Periventricular nodular heterotopia 7617201C4310669OMIM0102937728606384
HP:0002079HP:0002079Hypoplasia of the corpus callosum1NKX6-2 CL E G H84504527497ORPHA0910419321605955
HP:0002079HP:0002079Hypoplasia of the corpus callosum1PAFAH1B1 CL E G H5048217385ORPHA01702558574601545
HP:0002079HP:0002079Hypoplasia of the corpus callosum1PAFAH1B1 CL E G H5048531Acute myeloblastic leukemia type 6ORPHA01702558574601545
HP:0002079HP:0002079Hypoplasia of the corpus callosum1PAH CL E G H50532209Exsudative retinopathy familial, autosomal recessiveORPHA09809208582612349
HP:0002079HP:0002079Hypoplasia of the corpus callosum1PCNT CL E G H51162637HemimegalencephalyORPHA08888516068605925
HP:0002079HP:0002079Hypoplasia of the corpus callosum1PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM01210525712611655
HP:0002079HP:0002079Hypoplasia of the corpus callosum1PHGDH CL E G H2622779351ORPHA0231458923606879
HP:0002079HP:0002079Hypoplasia of the corpus callosum1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA0344168967606097
HP:0002079HP:0002079Hypoplasia of the corpus callosum1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM053414951613257
HP:0002079HP:0002079Hypoplasia of the corpus callosum1PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM0115749413600899
HP:0002079HP:0002079Hypoplasia of the corpus callosum1PUF60 CL E G H22827508488ORPHA03212917042604819
HP:0002079HP:0002079Hypoplasia of the corpus callosum1RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM017699801602048
HP:0002079HP:0002079Hypoplasia of the corpus callosum1RAI1 CL E G H107431713ORPHA01164049834607642
HP:0002079HP:0002079Hypoplasia of the corpus callosum1RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA0111311959884614041
HP:0002079HP:0002079Hypoplasia of the corpus callosum1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM048223625611053
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SHOC2 CL E G H8036607721Noonan syndrome-like disorder with loose anagen hair 1607721C1843181OMIM0418415454602775
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SMARCA4 CL E G H65971465ORPHA057247311100603254
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SMARCB1 CL E G H65981465ORPHA011948211103601607
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SMARCE1 CL E G H66051465ORPHA01328711109603111
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SOX11 CL E G H66641465ORPHA0147011191600898
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM02828618119613940
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SPG11 CL E G H80208616668Charcot-Marie-Tooth disease, axonal type 2X616668C4225253OMIM0293106511226610844
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SSR4 CL E G H6748370927ORPHA0725011326300090
HP:0002079HP:0002079Hypoplasia of the corpus callosum1SSR4 CL E G H6748300934Congenital disorder of glycosylation type 1y300934C4012395OMIM0725011326300090
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM01724011535313650
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TECPR2 CL E G H9895320385ORPHA0831019957615000
HP:0002079HP:0002079Hypoplasia of the corpus callosum1TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM083320778191130
HP:0002079HP:0002079Hypoplasia of the corpus callosum1UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM02620426582612636
HP:0002079HP:0002079Hypoplasia of the corpus callosum1USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM02826912632300072
HP:0002079HP:0002079Hypoplasia of the corpus callosum1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM0257717327615049
HP:0002079HP:0002079Hypoplasia of the corpus callosum1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM05059612799605131
HP:0002079HP:0002079Hypoplasia of the corpus callosum1YWHAE CL E G H7531217385ORPHA04414612851605066
HP:0002079HP:0002079Hypoplasia of the corpus callosum1YWHAE CL E G H7531531Acute myeloblastic leukemia type 6ORPHA04414612851605066


Genes (275) :ACER3 ACO2 ADAR AHCY AHDC1 AIMP2 AKT3 ALDH6A1 ALX4 AMPD2 ANKRD11 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 ARFGEF2 ARHGAP31 ARID1A ARID1B ARID2 ARNT2 ARSI ASNS ASPM ASXL1 ASXL3 ATL1 ATP13A2 ATP6AP2 ATP6V1A BCOR BICD2 BRAT1 BUB1B C12ORF65 C12orf65 C2CD3 CARS2 CCDC174 CCDC88A CDC42 CDK10 CDK13 CEP120 CEP290 CHMP1A CLP1 CNTNAP1 COASY COG2 COG4 COG7 COPB2 COX7B CRPPA CSPP1 CTNNA2 CTNNB1 CUL4B CYP2U1 DAG1 DARS DCHS1 DDHD2 DDX3X DHCR7 DIAPH1 DOCK7 DPF2 DYNC1H1 EARS2 EFNB1 EIF2S3 EMC1 EPRS ERLIN2 ERMARD EXOSC8 FA2H FAT4 FBXL4 FGFR1 FGFR3 FKRP FKTN FLCN FOXG1 FRMPD4 GABRB1 GBA2 GFER GFM1 GJC2 GLRX5 GLUL GNAO1 GPSM2 GPT2 GRIA4 GRIN1 HACE1 HIC1 HIVEP2 HSD17B4 HTRA2 IBA57 IER3IP1 IFIH1 IFT52 IGF1R ISPD KANSL1 KATNB1 KCNQ2 KCNT1 KCNT2 KCTD7 KDM1A KDM5B KIDINS220 KIF1BP KIF2A KIF5C KLHL7 LARGE1 LNPK LONP1 LYRM7 MAP2K2 MAPRE2 MBTPS2 MDH2 MED25 MEF2C MFSD2A MOCS1 MOCS2 MOGS MRPS22 NADK2 NANS NDUFA2 NEDD4L NEXMIF NFIA NHLRC2 NKX6-2 NT5C2 OSGEP OTUD6B PAFAH1B1 PAH PAX6 PCLO PCNT PGAP1 PHGDH PIGA PIGG PIGN PIGP PIK3R2 PLAA PNKP POGZ POLR1C POLR3A POLR3B POMT1 POMT2 PPP1R15B PPP2R1A PRKDC PRUNE1 PSAP PUF60 PYCR2 QARS RAB18 RAB3GAP1 RAB3GAP2 RAC1 RAI1 RARS RB1 REPS1 RERE RHOBTB2 RMND1 RNASEH2A RNASEH2B RNASEH2C RUSC2 SACS SAMHD1 SCN3A SEPSECS SETBP1 SHOC2 SIN3A SIX6 SLC1A2 SLC1A4 SLC25A24 SLC35A2 SLC6A8 SLC6A9 SMARCA4 SMARCB1 SMARCE1 SMG9 SNIP1 SON SOX11 SOX2 SPATA5 SPG11 SPG21 SPTAN1 SSR4 STAMBP STXBP1 SYNJ1 TAF1 TAF2 TARS2 TBC1D20 TBC1D23 TBCD TBCE TBCK TCF4 TECPR2 TGFB1 TMCO1 TMEM106B TMTC3 TOE1 TRAPPC6B TRAPPC9 TREX1 TSEN2 TUBA1A TUBB TUBB2A TUBB2B TUBB3 TYROBP UBA5 UBE3B UBTF UNC80 USP9X VARS VPS11 VPS53 VWA3B WAC WDR26 WDR45B WDR62 WDR73 WDR81 WT1 WWOX YWHAE ZBTB20 ZEB2 ZFR ZFYVE26 ZNF148 ZNHIT3 ZSWIM6

Diseases (292) :617762 614559 51 88618 615829 618006 615937 614105 613451 615809 615686 261250 617276 280763 614066 612936 306511 613647 608097 100300 1465 135900 615926 401815 615574 608716 97297 605039 615485 182600 513436 300423 617403 618012 300166 618291 618056 320375 615035 615948 616672 616816 617507 616737 617694 617360 617761 611134 614961 615803 618186 616286 615643 435934 617395 263501 613489 608779 617800 300887 614643 615636 618174 615075 300354 320411 615030 616538 615281 601390 320380 615033 457260 300958 270400 616632 615859 614563 614924 1520 304110 300148 616875 617951 611225 75857 616081 171629 612319 615546 615471 613001 85165 616482 236670 610883 613454 300983 617153 614409 330054 609060 613206 616859 610015 615473 617493 604213 477673 616281 617864 614254 617820 464282 616756 531 616977 261515 617248 468661 615330 614231 617102 270450 610443 616212 439218 613720 614959 617771 611726 616728 618109 521390 66629 609460 615411 615282 618090 600373 615838 615280 616734 308205 617339 616449 228384 616486 252150 252160 606056 611719 431361 610442 618235 617201 85277 613735 618278 527497 613162 617729 617452 217385 2209 106210 608027 2637 615802 79351 300868 616917 280633 617599 603387 521426 617527 613402 616364 616494 447896 607694 614381 613155 613156 616817 616362 615966 617481 611721 508488 616420 615760 614222 600118 614225 617751 1713 438114 616140 1587 617916 616975 618004 614922 610329 617773 98 617938 613811 798 269150 607721 613406 206900 617105 616657 612289 300896 300352 617301 616938 616920 614501 500150 617140 616577 616668 604360 101001 613477 370927 300934 614261 612164 617389 300966 615599 615918 615663 617695 617193 496756 617207 241410 616900 610954 320385 615031 618213 1394 213980 617964 617255 614969 617862 352530 613192 612389 611603 156610 615763 610031 300570 614039 221770 617132 244450 617672 616801 300968 617802 466934 616683 615851 616948 616708 617616 617977 604317 251300 610185 616211 259050 235730 401840 100996 270700 617260 260565 603671 257300
 

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