Human Phenotype Ontology 
Grandparent Node:
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Abnormal cerebral morphology (HP:0002060)help
Grandparent Node:
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Aplasia/Hypoplasia involving the central nervous system (HP:0002977)help
Parent Node:
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Abnormal corpus callosum morphology (HP:0001273)help
Parent Node:
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Aplasia/Hypoplasia of the cerebrum (HP:0007364)help
..Starting node
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Aplasia/Hypoplasia of the corpus callosum (HP:0007370)help
Term ID: 7370
Name: Aplasia/Hypoplasia of the corpus callosum
Synonym: Absent/hypoplastic corpus callosum; Agenesis/hypoplastic corpus callosum; Complete or partial absence of the corpus callosum; Hypoplasia or absence of the corpus callosum; Hypoplastic or absent corpus callosum
Definition: Absence or underdevelopment of the corpus callosum.
Comments:
Reference: HP:0007370
Genes and Diseases:
 
       Child Nodes:
........expandAgenesis of corpus callosum (HP:0001274) help
................... HP:0001338 Partial agenesis of the corpus callosum
........expandHypoplasia of the corpus callosum (HP:0002079) help
................... HP:0006849 Hypodysplasia of the corpus callosum

 Sister Nodes: 
..expandAnencephaly (HP:0002323) help
..expandAprosencephaly (HP:0007268) help
..expandCerebral hypoplasia (HP:0006872) help
..expandMicrocephaly (HP:0000252) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ABAT CL E G H1823OMIM:613163GABA-transaminase deficiency120
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ACER3 CL E G H5533116066OMIM:617762Leukodystrophy, progressive, early childhood-onset
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ACO2 CL E G H50118OMIM:614559INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD60
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 172
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ACTG1 CL E G H71144OMIM:614583Baraitser-Winter syndrome 2123
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ACTL6B CL E G H51412160OMIM:618468DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE762
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ACY1 CL E G H95177ORPHA:137754Neurological conditions associated with aminoacylase 1 deficiencyHP:0040283 - Occasional13
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndrome116
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndrome9
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 369
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ADNP CL E G H2339415766ORPHA:404448ADNP syndrome47
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0AHCY CL E G H191343ORPHA:88618S-adenosylhomocysteine hydrolase deficiency31
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome36
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome36
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0AHI1 CL E G H5480621575ORPHA:475Joubert syndromeHP:0040283 - Occasional175
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defect175
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0AIFM1 CL E G H91318768ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome60
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration60
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0AIMP2 CL E G H796520609OMIM:618006Leukodystrophy, hypomyelinating, 171
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0AKT3 CL E G H10000393OMIM:615937Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 219
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ALDH6A1 CL E G H43297179OMIM:614105Methylmalonate semialdehyde dehydrogenase deficiency35
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ALDH7A1 CL E G H501877ORPHA:3006Pyridoxine-dependent epilepsy227
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ALG2 CL E G H8536523159ORPHA:79326ALG2-CDG46
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ALG3 CL E G H1019523056ORPHA:79321ALG3-CDG37
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ALG8 CL E G H7905323161ORPHA:79325ALG8-CDG46
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome5
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 19
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ALX3 CL E G H257449ORPHA:391474FrontorhinyHP:0040282 - Frequent9
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ALX4 CL E G H60529450ORPHA:228390Frontonasal dysplasia-alopecia-genital anomalies syndrome132
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0AMPD2 CL E G H271469OMIM:615809Pontocerebellar hypoplasia, type 921
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0AMPD2 CL E G H271469OMIM:615686Spastic paraplegia 63, autosomal recessive21
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0AMT CL E G H275473OMIM:605899Glycine encephalopathy56
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ANKLE2 CL E G H2314129101ORPHA:2512Autosomal recessive primary microcephaly3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ANKLE2 CL E G H2314129101OMIM:616681Microcephaly 16, primary, autosomal recessive3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndrome102
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0AP1G1 CL E G H164555OMIM:619548USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0AP3B2 CL E G H8120567OMIM:617276EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE487
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegia49
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessive49
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegia48
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegia41
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive41
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegia18
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0AP5Z1 CL E G H990722197ORPHA:306511Autosomal recessive spastic paraplegia type 48165
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0AP5Z1 CL E G H990722197OMIM:613647Spastic paraplegia 48, autosomal recessive165
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0APC2 CL E G H1029724036OMIM:618677CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM101
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040283 - Occasional1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ARFGEF2 CL E G H1056415853OMIM:608097Periventricular heterotopia with microcephaly, autosomal recessive179
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1147
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndrome88
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndrome219
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndrome219
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndrome25
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ARL13B CL E G H20089425419ORPHA:475Joubert syndromeHP:0040283 - Occasional62
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ARL3 CL E G H403694ORPHA:475Joubert syndromeHP:0040283 - Occasional1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ARMC9 CL E G H8021020730ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrum
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ARNT2 CL E G H991516876OMIM:615926Webb-Dattani syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ARSI CL E G H34007532521ORPHA:401815Autosomal recessive spastic paraplegia type 661
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ARX CL E G H17030218060ORPHA:2508Corpus callosum agenesis-abnormal genitalia syndrome166
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia166
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathy166
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2166
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ARX CL E G H17030218060ORPHA:452X-linked lissencephaly with abnormal genitalia166
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ASNS CL E G H440753OMIM:615574Asparagine synthetase deficiency17
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ASPM CL E G H25926619048ORPHA:2512Autosomal recessive primary microcephaly512
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ASPM CL E G H25926619048OMIM:608716Microcephaly 5, primary, autosomal recessive512
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndrome145
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome145
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ATL1 CL E G H5106211231OMIM:182600Spastic paraplegia 3, autosomal dominant71
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78100
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera type36
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 33
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndrome169
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndrome43
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040283 - Occasional36
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1317
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndrome17
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0B9D1 CL E G H2707724123ORPHA:475Joubert syndromeHP:0040283 - Occasional28
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040283 - Occasional28
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0B9D2 CL E G H8077628636ORPHA:475Joubert syndromeHP:0040283 - Occasional34
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040283 - Occasional34
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040283 - Occasional101
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0BICD2 CL E G H2329917208OMIM:618291Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant46
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome.
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomalies38
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures20
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndrome7
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional5
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional76
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 176
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndromeHP:0040281 - Very frequent13
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome13
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV27
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 2735
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 2735
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathy118
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CBY1 CL E G H257761307ORPHA:475Joubert syndromeHP:0040283 - Occasional1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CC2D2A CL E G H5754529253OMIM:619111COACH SYNDROME 2; COACH2247
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional247
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional247
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040283 - Occasional247
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CCDC174 CL E G H5124428033OMIM:616816Hypotonia, infantile, with psychomotor retardation1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CCDC88A CL E G H5570425523OMIM:617507Peho-Like syndrome1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040283 - Occasional83
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CDC40 CL E G H5136217350OMIM:619302PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome6
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CDC42BPB CL E G H95781738OMIM:619841
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CDK5 CL E G H10201774OMIM:616342Lissencephaly 7 with cerebellar hypoplasia3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CDK5RAP2 CL E G H5575518672ORPHA:2512Autosomal recessive primary microcephaly181
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CDK5RAP2 CL E G H5575518672OMIM:604804Microcephaly 3, primary, autosomal recessive181
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CDK6 CL E G H10211777ORPHA:2512Autosomal recessive primary microcephaly6
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CDK8 CL E G H10241779OMIM:618748INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathy405
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephaly200
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CDON CL E G H5093717104OMIM:614226Holoprosencephaly 11200
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephaly200
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CDON CL E G H5093717104ORPHA:280200Microform holoprosencephaly200
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephaly200
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephaly200
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CENPE CL E G H10621856OMIM:616051Microcephaly 13, primary, autosomal recessive20
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CENPF CL E G H10631857OMIM:243605Stromme syndrome27
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CENPJ CL E G H5583517272ORPHA:2512Autosomal recessive primary microcephaly161
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CEP104 CL E G H973124866ORPHA:475Joubert syndromeHP:0040283 - Occasional5
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CEP120 CL E G H15324126690ORPHA:475Joubert syndromeHP:0040283 - Occasional7
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CEP120 CL E G H15324126690OMIM:617761Joubert syndrome 317
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defect7
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CEP135 CL E G H966229086ORPHA:2512Autosomal recessive primary microcephaly38
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CEP152 CL E G H2299529298ORPHA:2512Autosomal recessive primary microcephaly146
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional342
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040283 - Occasional342
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CEP290 CL E G H8018429021OMIM:611134Meckel syndrome, type 4342
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CEP41 CL E G H9568112370ORPHA:475Joubert syndromeHP:0040283 - Occasional90
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defect90
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional17
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CEP63 CL E G H8025425815ORPHA:2512Autosomal recessive primary microcephaly31
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CFC1 CL E G H5599718292OMIM:605376Heterotaxy, visceral, 2, autosomal13
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 819
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA.
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CIT CL E G H111131985ORPHA:2512Autosomal recessive primary microcephaly15
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CIT CL E G H111131985OMIM:617090Microcephaly 17, primary, autosomal recessive15
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CLCN3 CL E G H11822021OMIM:619517NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndrome45
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndrome45
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CLP1 CL E G H1097816999OMIM:615803Pontocerebellar hypoplasia, type 107
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CNOT1 CL E G H230197877ORPHA:556955Pancreatic agenesis-holoprosencephaly syndrome2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CNTNAP1 CL E G H85068011OMIM:616286Lethal congenital contracture syndrome 79
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 39
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 616
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0COG2 CL E G H227966546ORPHA:435934COG2-CDG2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0COG2 CL E G H227966546OMIM:617395Congenital disorder of glycosylation, type IIq2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0COG4 CL E G H2583918620ORPHA:263501COG4-CDG67
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0COG4 CL E G H2583918620OMIM:613489Congenital disorder of glycosylation, type IIj67
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe64
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndrome193
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0COPB2 CL E G H92762232ORPHA:2512Autosomal recessive primary microcephaly
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0COPB2 CL E G H92762232OMIM:617800Microcephaly 19, primary, autosomal recessive
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0COX1 CL E G H45127419ORPHA:550MELAS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0COX2 CL E G H45137421ORPHA:550MELAS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0COX3 CL E G H45147422ORPHA:550MELAS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0COX7B CL E G H13492291OMIM:300887Linear skin defects with multiple congenital anomalies 26
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndrome6
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 76
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CPLANE1 CL E G H6525025801ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndrome1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal form101
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CSF1R CL E G H14362433OMIM:618476Brain abnormalities, neurodegeneration, and dysosteosclerosis149
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CSPP1 CL E G H7984826193ORPHA:475Joubert syndromeHP:0040283 - Occasional57
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CSPP1 CL E G H7984826193OMIM:615636Joubert syndrome 2157
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040283 - Occasional57
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndrome2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CTNNA2 CL E G H14962510OMIM:618174Cortical dysplasia, complex, with other brain malformations 92
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects88
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CTNNB1 CL E G H14992514ORPHA:404473Severe intellectual disability-progressive spastic diplegia syndrome88
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency9
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency31
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency31
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CYP2U1 CL E G H11361220582ORPHA:320411Autosomal recessive spastic paraplegia type 5618
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CYP2U1 CL E G H11361220582OMIM:615030Spastic paraplegia 56, autosomal recessive18
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathy
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophy108
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9108
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndrome108
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DARS1 CL E G H16152678OMIM:615281HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome60
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DCC CL E G H16302701ORPHA:238722Familial congenital mirror movements36
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DCC CL E G H16302701OMIM:617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS236
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DCC CL E G H16302701OMIM:157600Mirror movements 136
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndrome27
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 127
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DCX CL E G H16412714ORPHA:2148Lissencephaly type 1 due to doublecortin gene mutation145
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DCX CL E G H16412714OMIM:300067Lissencephaly, X-linked, 1145
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DDHD2 CL E G H2325929106ORPHA:320380Autosomal recessive spastic paraplegia type 5429
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive29
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DDX3X CL E G H16542745OMIM:300958MENTAL RETARDATION, X-LINKED 102; MRX10257
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DDX3X CL E G H16542745ORPHA:457260X-linked intellectual disability-hypotonia-movement disorder syndrome57
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 52
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent33
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DHCR24 CL E G H17182859ORPHA:35107Desmosterolosis72
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS72
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040283 - Occasional159
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DIAPH1 CL E G H17292876OMIM:616632Seizures, cortical blindness, and microcephaly syndrome118
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome164
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DISC1 CL E G H271852888ORPHA:171703Microcephaly-polymicrogyria-corpus callosum agenesis syndrome2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephaly22
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephaly22
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephaly22
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephaly22
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephaly22
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephaly3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephaly3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephaly3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephaly3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephaly3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathy3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DNAL4 CL E G H101262955ORPHA:238722Familial congenital mirror movements2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome11
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DOCK7 CL E G H8544019190OMIM:615859Epileptic encephalopathy, early infantile, 2311
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DONSON CL E G H299802993OMIM:251230Microcephaly-Micromelia syndrome.9
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDG38
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DPYD CL E G H18063012OMIM:274270Dihydropyrimidine dehydrogenase deficiency144
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DYNC1H1 CL E G H17782961OMIM:614563Mental retardation, autosomal dominant 13427
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3304
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type304
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion134
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutation134
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 1280
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0EBP CL E G H106823133ORPHA:401973MEND syndrome51
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasia27
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome27
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletion223
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutation223
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome8
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation5
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0EML1 CL E G H20093330OMIM:600348Band heterotopia3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0EMX2 CL E G H20183341OMIM:269160SCHIZENCEPHALY7
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0EOMES CL E G H83203372ORPHA:171703Microcephaly-polymicrogyria-corpus callosum agenesis syndrome7
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0EPG5 CL E G H5772429331ORPHA:1493Vici syndrome40
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ERCC5 CL E G H20733437OMIM:616570Cerebrooculofacioskeletal syndrome 383
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1199
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 1818
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ERLIN2 CL E G H111601356OMIM:611225Spastic paraplegia 18, autosomal recessive18
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndrome36
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0EXOC7 CL E G H2326523214OMIM:619072NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0EXOC8 CL E G H14937124659OMIM:619076NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0EXOSC1 CL E G H5101317286OMIM:619304PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C4
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 3576
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegeneration76
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessive76
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I157
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndrome114
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2114
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)384
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FCSK CL E G H19725829500OMIM:618324Congenital disorder of glycosylation with defective fucosylation 2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephaly17
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephaly17
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephaly17
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephaly17
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephaly17
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosis172
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FGFR1 CL E G H22603688OMIM:613001Encephalocraniocutaneous lipomatosis172
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FGFR1 CL E G H22603688ORPHA:2117Hartsfield syndromeHP:0040281 - Very frequent172
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FGFR1 CL E G H22603688OMIM:615465Hartsfield syndrome172
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FGFR1 CL E G H22603688OMIM:147950Hypogonadotropic hypogonadism 2 with or without anosmia172
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephaly172
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephaly172
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephaly172
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrum172
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FGFR2 CL E G H22633689OMIM:101200Apert syndrome175
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FGFR2 CL E G H22633689ORPHA:87Apert syndrome175
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans145
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FGFR3 CL E G H22613690ORPHA:85165Severe achondroplasia-developmental delay-acanthosis nigricans syndrome145
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FH CL E G H22713700OMIM:606812Fumarase deficiency301
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvement157
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disability157
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FKRP CL E G H7914717997OMIM:613153MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5157
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndrome157
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FKTN CL E G H22183622ORPHA:272Congenital muscular dystrophy, Fukuyama typeHP:0040283 - Occasional184
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4184
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FKTN CL E G H22183622ORPHA:899Walker-Warburg syndrome184
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndrome8
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FLNA CL E G H23163754ORPHA:555877FLNA-related X-linked myxomatous valvular dysplasia493
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FLNA CL E G H23163754OMIM:300049Heterotopia, periventricular, X-linked dominant493
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FLVCR2 CL E G H5564020105OMIM:225790Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome47
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic forms
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletion177
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephaly48
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephaly48
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephaly48
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephaly48
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephaly48
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FRMD4A CL E G H5569125491OMIM:616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FRMD4A CL E G H5569125491ORPHA:466688Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type II3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GABRA5 CL E G H25584079OMIM:618559DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GABRB1 CL E G H25604081OMIM:617153Epileptic encephalopathy, early infantile, 453
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GABRD CL E G H25634084ORPHA:16061p36 deletion syndrome10
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephaly2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephaly2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephaly2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephaly2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephaly2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive30
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GCSH CL E G H26534208OMIM:605899Glycine encephalopathy5
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GDF1 CL E G H26574214OMIM:208530Right atrial isomerism (Ivemark)28
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GFER CL E G H26714236ORPHA:330054Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome14
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 185
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 3943
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessive37
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GLDC CL E G H27314313OMIM:605899Glycine encephalopathy166
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephaly173
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic forms173
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephaly173
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephaly173
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephaly173
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephaly173
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GLI3 CL E G H27374319ORPHA:36Acrocallosal syndromeHP:0040281 - Very frequent270
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndrome270
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GLRX5 CL E G H5121820134OMIM:616859Spasticity, childhood-onset, with hyperglycinemia17
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GLUL CL E G H27524341OMIM:610015GLUTAMINE DEFICIENCY, CONGENITAL98
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GLYCTK CL E G H13215824247ORPHA:941D-glyceric aciduria6
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvement34
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disability34
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathy36
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GNAO1 CL E G H27754389OMIM:615473Epileptic encephalopathy, early infantile, 1736
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GNAO1 CL E G H27754389OMIM:617493Neurodevelopmental disorder with involuntary movements36
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GOT2 CL E G H28064433OMIM:618721DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GPKOW CL E G H2723830677ORPHA:2570Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndromeHP:0040283 - Occasional
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GPSM2 CL E G H2989929501OMIM:604213CHUDLEY-MCCULLOUGH SYNDROME; CMCS74
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GPT2 CL E G H8470618062OMIM:616281Mental retardation, autosomal recessive 494
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome4
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GPX4 CL E G H28794556ORPHA:93317Spondylometaphyseal dysplasia, Sedaghatian type3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutations30
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyria108
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathy108
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant108
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive108
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GRIN2A CL E G H29034585ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation434
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GRIN2A CL E G H29034585ORPHA:163721Rolandic epilepsy-speech dyspraxia syndrome434
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathy5
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HACE1 CL E G H5753121033OMIM:616756Spastic paraplegia and psychomotor retardation with or without seizures10
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HACE1 CL E G H5753121033ORPHA:464282Spastic paraplegia-severe developmental delay-epilepsy syndrome10
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndrome11
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 711
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic forms21
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function21
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrum21
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HESX1 CL E G H88204877OMIM:182230Septooptic dysplasia21
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HIBCH CL E G H262754908OMIM:2506203-Hydroxyisobutyryl-Coa hydrolase deficiency32
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiencyHP:0040282 - Frequent32
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HIC1 CL E G H30904909ORPHA:531Miller-Dieker syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HNRNPR CL E G H102365047OMIM:620073
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HNRNPU CL E G H31925048ORPHA:2387691q44 microdeletion syndrome39
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HRAS CL E G H32655173ORPHA:2612Linear nevus sebaceus syndromeHP:0040283 - Occasional113
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndrome345
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII39
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HYLS1 CL E G H21984426558ORPHA:2189Hydrolethalus31
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 131
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0HYLS1 CL E G H21984426558ORPHA:475Joubert syndromeHP:0040283 - Occasional31
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 7416
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0IBA57 CL E G H20020527302OMIM:615330Multiple mitochondrial dysfunctions syndrome 316
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0IER3IP1 CL E G H5112418550OMIM:614231Microcephaly, epilepsy, and diabetes syndrome6
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndrome28
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0IFT52 CL E G H5109815901OMIM:617102Short-Rib thoracic dysplasia 16 with or without polydactyly4
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type65
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0IGBP1 CL E G H34765461ORPHA:52055Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome5
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to268
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0INPP5E CL E G H5662321474ORPHA:475Joubert syndromeHP:0040283 - Occasional111
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional111
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defect111
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent119
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KAT6B CL E G H2352217582ORPHA:85201Genitopatellar syndrome141
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome141
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KATNB1 CL E G H103006217OMIM:616212Lissencephaly 6, with microcephaly10
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KATNB1 CL E G H103006217ORPHA:89844Lissencephaly syndrome, Norman-Roberts type10
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KATNIP CL E G H2324729068ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathy145
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndrome1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KCNQ2 CL E G H37856296OMIM:613720Epileptic encephalopathy, early infantile, 7528
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KCNQ2 CL E G H37856296ORPHA:439218KCNQ2-related epileptic encephalopathy528
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KCNT1 CL E G H5758218865OMIM:614959Epileptic encephalopathy, early infantile, 14321
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KCNT2 CL E G H34345018866OMIM:617771Epileptic encephalopathy, early infantile, 571
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KCTD7 CL E G H15488121957OMIM:611726Epilepsy, progressive myoclonic 3, with or without intracellular inclusions106
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KCTD7 CL E G H15488121957ORPHA:263516Progressive myoclonic epilepsy type 3HP:0040283 - Occasional106
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 652
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KIAA0586 CL E G H978619960ORPHA:475Joubert syndromeHP:0040283 - Occasional24
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional4
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KIAA0753 CL E G H985129110OMIM:617127Orofaciodigital syndrome XV4
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KIDINS220 CL E G H5749829508OMIM:617296SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO4
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KIDINS220 CL E G H5749829508ORPHA:521390Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome4
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KIDINS220 CL E G H5749829508OMIM:619501VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG4
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KIF14 CL E G H992819181ORPHA:2512Autosomal recessive primary microcephaly9
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KIF14 CL E G H992819181OMIM:616258Meckel syndrome 129
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KIF2A CL E G H37966318OMIM:615411Cortical dysplasia, complex, with other brain malformations 315
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KIF5C CL E G H38006325OMIM:615282CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM218
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KIF7 CL E G H37465430497ORPHA:36Acrocallosal syndromeHP:0040281 - Very frequent167
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KIF7 CL E G H37465430497OMIM:607131Al-Gazali-Bakalinova syndrome167
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KIF7 CL E G H37465430497ORPHA:2189Hydrolethalus167
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KIF7 CL E G H37465430497OMIM:614120Hydrolethalus syndrome 2167
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KIF7 CL E G H37465430497ORPHA:166024Multiple epiphyseal dysplasia, Al-Gazali type167
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional167
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KIFBP CL E G H2612823419ORPHA:66629Goldberg-Shprintzen megacolon syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutation99
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KNL1 CL E G H5708224054ORPHA:2512Autosomal recessive primary microcephaly112
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosis196
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KRAS CL E G H38456407ORPHA:2612Linear nevus sebaceus syndromeHP:0040283 - Occasional196
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0KRAS CL E G H38456407ORPHA:3339Toriello-Lacassie-Droste syndrome196
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0L1CAM CL E G H38976470OMIM:304100Corpus callosum, partial agenesis of, X-linked134
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0L1CAM CL E G H38976470OMIM:307000Hydrocephalus due to congenital stenosis of aqueduct of sylvius134
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0L1CAM CL E G H38976470ORPHA:2182Hydrocephalus with stenosis of the aqueduct of Sylvius134
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0L1CAM CL E G H38976470OMIM:303350MASA syndrome134
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0L1CAM CL E G H38976470ORPHA:2466MASA syndrome134
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0LAMB1 CL E G H39126486OMIM:615191Lissencephaly 571
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disability136
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1136
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndrome136
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndrome2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function51
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic forms43
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function43
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040283 - Occasional88
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0LMBR1 CL E G H6432713243ORPHA:2378Laurin-Sandrow syndromeHP:0040283 - Occasional106
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0LNPK CL E G H8085621610OMIM:618090Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiency8
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0LRP2 CL E G H40366694OMIM:222448Donnai-Barrow syndrome289
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0LRP2 CL E G H40366694ORPHA:2143Donnai-Barrow syndromeHP:0040281 - Very frequent289
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0LRRC32 CL E G H26154161OMIM:619074CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0LSS CL E G H40476708OMIM:618840ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR42
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MACF1 CL E G H2349913664OMIM:618325Lissencephaly 9 with complex brainstem malformation2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndrome21
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MAPKAPK5 CL E G H85506889OMIM:619869
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndrome22
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome22
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MCM7 CL E G H41766950ORPHA:2512Autosomal recessive primary microcephaly
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MCPH1 CL E G H796486954ORPHA:2512Autosomal recessive primary microcephaly155
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MDH1 CL E G H41906970OMIM:618959DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040282 - Frequent228
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MED12 CL E G H996811957ORPHA:776Lujan-Fryns syndromeHP:0040282 - Frequent228
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome228
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome228
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MED25 CL E G H8185728845OMIM:616449Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MEF2C CL E G H42086996ORPHA:2283845q14.3 microdeletion syndrome132
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0METTL5 CL E G H2908125006ORPHA:2512Autosomal recessive primary microcephaly
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MFSD2A CL E G H8487925897ORPHA:2512Autosomal recessive primary microcephaly5
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MFSD2A CL E G H8487925897OMIM:616486Microcephaly 15, primary, autosomal recessive5
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndrome57
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MID1 CL E G H42817095OMIM:300000Opitz gbbb syndrome, type I57
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MINPP1 CL E G H95627102ORPHA:284339Pontocerebellar hypoplasia type 73
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MKS1 CL E G H549037121ORPHA:475Joubert syndromeHP:0040283 - Occasional127
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defect127
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040283 - Occasional127
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MOCS1 CL E G H43377190OMIM:252150Molybdenum cofactor deficiency, complementation group A96
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MOCS2 CL E G H43387193OMIM:252160Molybdenum cofactor deficiency, complementation group B26
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MOGS CL E G H784124862OMIM:606056Congenital disorder of glycosylation, type IIB37
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MOGS CL E G H784124862ORPHA:79330MOGS-CDG37
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive9
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MRPS16 CL E G H5102114048OMIM:610498Combined oxidative phosphorylation deficiency 260
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MRPS22 CL E G H5694514508OMIM:611719Combined oxidative phosphorylation deficiency 525
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MRPS25 CL E G H6443214511OMIM:619025COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MTHFR CL E G H45247436ORPHA:563612Isolated exencephaly183
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040283 - Occasional23
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiency14
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome48
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type8
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NARS1 CL E G H46777643OMIM:619091NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 2434
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NCAPD3 CL E G H2331028952ORPHA:2512Autosomal recessive primary microcephaly1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ND1 CL E G H45357455ORPHA:550MELAS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ND4 CL E G H45387459ORPHA:550MELAS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ND5 CL E G H45407461ORPHA:550MELAS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ND6 CL E G H45417462ORPHA:550MELAS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NDE1 CL E G H5482017619OMIM:614019Lissencephaly 496
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NDE1 CL E G H5482017619ORPHA:89844Lissencephaly syndrome, Norman-Roberts type96
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY96
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NDUFA2 CL E G H46957685OMIM:618235Mitochondrial complex I deficiency, nuclear type 1319
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NDUFB11 CL E G H5453920372OMIM:300952Linear skin defects with multiple congenital anomalies 33
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndrome3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 73
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NEDD4L CL E G H233277728OMIM:617201Periventricular nodular heterotopia 730
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathy
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NEUROD2 CL E G H47617763OMIM:618374Epileptic encephalopathy, early infantile, 72
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NEXMIF CL E G H34053329433ORPHA:85277X-linked intellectual disability, Cantagrel type52
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion1952
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NFIA CL E G H47747784ORPHA:4019861p31p32 microdeletion syndrome12
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NFIA CL E G H47747784OMIM:613735Brain malformations with or without urinary tract defects12
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NFIX CL E G H47847788ORPHA:420179Malan overgrowth syndrome40
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NFIX CL E G H47847788OMIM:614753Sotos syndrome 240
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndrome51
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophy2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephaly45
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephaly45
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NODAL CL E G H48387865ORPHA:280200Microform holoprosencephaly45
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephaly45
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephaly45
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NOVA2 CL E G H48587887OMIM:618859Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defect85
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndrome37
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NRAS CL E G H48937989ORPHA:2612Linear nevus sebaceus syndromeHP:0040283 - Occasional102
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NRROS CL E G H37538724613OMIM:618875SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040283 - Occasional544
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndrome118
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040283 - Occasional84
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NT5C2 CL E G H229788022OMIM:613162Spastic paraplegia 45, autosomal recessive15
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NTN1 CL E G H94238029ORPHA:238722Familial congenital mirror movements
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion121
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I201
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1201
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional201
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0OGDHL CL E G H5575325590OMIM:619701YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0OSTM1 CL E G H2896221652ORPHA:85179Infantile osteopetrosis with neuroaxonal dysplasia73
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040282 - Frequent4
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0OTX2 CL E G H50158522ORPHA:990Agnathia-holoprosencephaly-situs inversus syndrome41
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic forms41
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0OTX2 CL E G H50158522ORPHA:3157Septo-optic dysplasia spectrum41
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PAFAH1B1 CL E G H50488574ORPHA:21738517p13.3 microduplication syndrome231
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PAFAH1B1 CL E G H50488574ORPHA:95232Lissencephaly due to LIS1 mutation231
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PAFAH1B1 CL E G H50488574ORPHA:531Miller-Dieker syndrome231
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PAH CL E G H50538582ORPHA:2209Maternal phenylketonuria641
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PARS2 CL E G H2597330563OMIM:618437Epileptic encephalopathy, early infantile, 7514
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PCLO CL E G H2744513406OMIM:608027Pontocerebellar hypoplasia, type 36
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type II531
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiency88
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency88
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PDHB CL E G H51628808ORPHA:255138Pyruvate dehydrogenase E1-beta deficiency37
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PDHB CL E G H51628808OMIM:614111PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD37
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PDHX CL E G H805021350ORPHA:255182Pyruvate dehydrogenase E3-binding protein deficiency98
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PDHX CL E G H805021350OMIM:245349Pyruvate dehydrogenase e3-binding protein deficiency98
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PDYN CL E G H51738820OMIM:610245Spinocerebellar ataxia 2352
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PGAP1 CL E G H8005525712ORPHA:401820Autosomal recessive spastic paraplegia type 6720
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PHC1 CL E G H19113182ORPHA:2512Autosomal recessive primary microcephaly16
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PHGDH CL E G H262278923ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form37
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome37
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PIBF1 CL E G H1046423352ORPHA:475Joubert syndromeHP:0040283 - Occasional4
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndrome77
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome77
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PIGG CL E G H5487225985ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndrome7
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PIGG CL E G H5487225985OMIM:616917Mental retardation, autosomal recessive 537
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndrome7
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PIGN CL E G H235568967ORPHA:2059Fryns syndrome37
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathy2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PIGP CL E G H512273046OMIM:617599Epileptic encephalopathy, early infantile, 552
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathy3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PIK3R2 CL E G H52968980OMIM:603387Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome12
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PITX1 CL E G H53079004OMIM:119800CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF8
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorder3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PLCH1 CL E G H2300729185OMIM:619895
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephaly
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PLPBP CL E G H112129457ORPHA:3006Pyridoxine-dependent epilepsy6
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PLXNA1 CL E G H53619099OMIM:619955
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PMS2 CL E G H53959122OMIM:619101MISMATCH REPAIR CANCER SYNDROME 4; MMRCS41121
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathy244
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PNKP CL E G H112849154OMIM:613402Microcephaly, seizures, and developmental delay244
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndrome35
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POLG2 CL E G H112329180OMIM:618528Mitochondrial DNA depletion syndrome 16 (hepatic type)45
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POLR1C CL E G H953320194OMIM:616494Leukodystrophy, hypomyelinating, 1138
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POLR2A CL E G H54309187OMIM:618603NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism138
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndrome138
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism67
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism67
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POLR3GL CL E G H8426528466OMIM:619234SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvement180
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.180
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndrome180
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndrome33
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvement18
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POMK CL E G H8419726267OMIM:615249MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1218
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POMK CL E G H8419726267ORPHA:899Walker-Warburg syndrome18
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvement213
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disability213
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1213
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1213
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndrome213
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvement221
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disability221
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1221
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2221
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2221
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndrome221
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic forms36
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function36
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PPFIBP1 CL E G H84969249OMIM:620024
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PPIL1 CL E G H516459260OMIM:619301PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 22
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PPP2CA CL E G H55159299OMIM:618354Neurodevelopmental disorder and language delay with or without structural brain abnormalities2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 3613
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome13
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndrome148
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PRKDC CL E G H55919413OMIM:615966Immunodeficiency 26 with or without neurologic abnormalities42
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndrome6
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PROKR2 CL E G H12867415836ORPHA:3157Septo-optic dysplasia spectrum34
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic forms54
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function54
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome49
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PRRX1 CL E G H53969142ORPHA:990Agnathia-holoprosencephaly-situs inversus syndrome4
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PRRX1 CL E G H53969142OMIM:202650Agnathia-Otocephaly complex4
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies8
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PSAP CL E G H56609498OMIM:611721Combined saposin deficiency81
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile form27
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephaly665
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephaly665
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephaly665
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephaly665
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephaly665
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfism6
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism6
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PTPN23 CL E G H2593014406OMIM:618890NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PYCR1 CL E G H58319721OMIM:612940Cutis laxa, autosomal recessive, type IIB53
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PYCR2 CL E G H2992030262ORPHA:2512Autosomal recessive primary microcephaly11
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PYCR2 CL E G H2992030262OMIM:616420Leukodystrophy, hypomyelinating, 1011
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathy11
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0QARS1 CL E G H58599751OMIM:615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RAB18 CL E G H2293114244ORPHA:2510Micro syndromeHP:0040281 - Very frequent85
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RAB3GAP1 CL E G H2293017063OMIM:619420MARTSOLF SYNDROME 2; MARTS290
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndromeHP:0040281 - Very frequent90
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 190
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RAB3GAP2 CL E G H2578217168ORPHA:401830Autosomal recessive spastic paraplegia type 69135
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndromeHP:0040281 - Very frequent135
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2135
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RAC3 CL E G H58819803OMIM:618577NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RAD51 CL E G H58889817ORPHA:238722Familial congenital mirror movements9
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndrome150
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent150
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RARS1 CL E G H59179870OMIM:616140Leukodystrophy, hypomyelinating, 9
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RB1 CL E G H59259884ORPHA:1587Monosomy 13q14365
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome445
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RELN CL E G H56499957ORPHA:89844Lissencephaly syndrome, Norman-Roberts type334
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0REPS1 CL E G H8502115578OMIM:617916Neurodegeneration with brain iron accumulation 7
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RERE CL E G H4739965ORPHA:16061p36 deletion syndrome16
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndrome16
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RHOBTB2 CL E G H2322118756OMIM:618004Epileptic encephalopathy, early infantile, 641
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 1126
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndrome33
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndrome34
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndrome60
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RNASEH2C CL E G H8415324116OMIM:610329Aicardi-Goutieres syndrome 360
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RNF13 CL E G H1134210057OMIM:618379DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathy
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RNU4ATAC CL E G H10015168334016ORPHA:1824Lowry-Wood syndromeHP:0040283 - Occasional15
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndrome15
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040283 - Occasional109
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional167
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RPGRIP1L CL E G H2332229168ORPHA:220497Joubert syndrome with renal defect167
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040283 - Occasional167
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040283 - Occasional65
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiency113
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RTTN CL E G H2591418654OMIM:614833Microcephaly, short stature, and polymicrogyria with or without seizures113
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-Saguenay309
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndrome55
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SASS6 CL E G H16378625403ORPHA:2512Autosomal recessive primary microcephaly4
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathy126
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathy427
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SCN3A CL E G H632810590OMIM:617938EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE6270
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SCYL2 CL E G H5568119286OMIM:618766ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SEC31A CL E G H2287217052OMIM:618651HALPERIN-BIRK SYNDROME; HLBKS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 266
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SEPSECS CL E G H5109130605OMIM:613811Pontocerebellar hypoplasia, type 2D66
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome143
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndrome143
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040283 - Occasional60
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.353
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephaly67
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephaly67
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SHH CL E G H646910848ORPHA:280200Microform holoprosencephaly67
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephaly67
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SHH CL E G H646910848OMIM:269160SCHIZENCEPHALY67
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephaly67
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathy11
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephaly32
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephaly32
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephaly32
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SIX3 CL E G H649610889OMIM:269160SCHIZENCEPHALY32
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephaly32
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 320
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SKI CL E G H649710896ORPHA:16061p36 deletion syndrome150
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SLC12A2 CL E G H655810911OMIM:619083DELPIRE-MCNEILL SYNDROME; DELMNES2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy163
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SLC12A6 CL E G H999010914ORPHA:1496Corpus callosum agenesis-neuronopathy syndrome163
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SLC1A2 CL E G H650610940OMIM:617105Epileptic encephalopathy, early infantile, 413
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SLC1A4 CL E G H650910942OMIM:616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly4
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome4
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SLC25A1 CL E G H657610979OMIM:618197Myasthenic syndrome, congenital, 23, presynaptic28
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SLC25A10 CL E G H146810980OMIM:618972MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SLC25A19 CL E G H6038614409ORPHA:99742Amish lethal microcephaly36
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SLC25A19 CL E G H6038614409OMIM:607196Microcephaly, Amish type36
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathy166
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm27
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDG27
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SLC5A6 CL E G H888411041OMIM:618973NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked122
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SLC6A9 CL E G H653611056OMIM:617301Glycine encephalopathy with normal serum glycine4
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndromeHP:0040282 - Frequent93
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndrome617
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndrome87
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndrome1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SMARCD1 CL E G H660211106OMIM:618779COFFIN-SIRIS SYNDROME 11; CSS11
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndrome47
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 547
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephaly135
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SMG9 CL E G H5600625763OMIM:616920Heart and brain malformation syndrome2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SMO CL E G H660811119OMIM:601707Curry-Jones syndrome22
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SMO CL E G H660811119ORPHA:1553Curry-Jones syndrome22
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SNIP1 CL E G H7975330587OMIM:614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism3
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome12
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndrome14
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SOX2 CL E G H665711195ORPHA:77298Anophthalmia/microphthalmia-esophageal atresia syndrome33
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 333
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SOX2 CL E G H665711195ORPHA:3157Septo-optic dysplasia spectrum33
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SOX3 CL E G H665811199ORPHA:3157Septo-optic dysplasia spectrum24
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SOX3 CL E G H665811199ORPHA:67045X-linked intellectual disability with isolated growth hormone deficiency24
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SPATA5 CL E G H16637818119OMIM:616577Epilepsy, hearing loss, and mental retardation syndrome19
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome19
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SPATA5L1 CL E G H7902928762OMIM:619616NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndrome4
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11287
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SPG11 CL E G H8020811226OMIM:616668Charcot-Marie-Tooth disease, axonal, type 2X287
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive287
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SPG21 CL E G H5132420373ORPHA:101001Autosomal recessive spastic paraplegia type 2128
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SPTAN1 CL E G H670911273OMIM:613477Epileptic encephalopathy, early infantile, 5416
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SRPX2 CL E G H2728630668ORPHA:163721Rolandic epilepsy-speech dyspraxia syndrome50
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SSR4 CL E G H674811326OMIM:300934Congenital disorder of glycosylation, type Iy12
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SSR4 CL E G H674811326ORPHA:370927SSR4-CDG12
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephaly1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0STAG2 CL E G H1073511355OMIM:301043HOLOPROSENCEPHALY 13, X-LINKED; HPE131
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephaly1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0STAG2 CL E G H1073511355ORPHA:521258Xq25 microduplication syndrome1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0STAMBP CL E G H1061716950OMIM:614261Microcephaly-Capillary malformation syndrome24
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephaly99
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0STIL CL E G H649110879ORPHA:2512Autosomal recessive primary microcephaly99
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephaly99
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephaly99
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephaly99
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4237
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SUFU CL E G H5168416466ORPHA:475Joubert syndromeHP:0040283 - Occasional124
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephaly124
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SUZ12 CL E G H2351217101OMIM:618786IMAGAWA-MATSUMOTO SYNDROME; IMMAS1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0SYNJ1 CL E G H886711503OMIM:617389Epileptic encephalopathy, early infantile, 539
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome21
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TAF13 CL E G H688411546ORPHA:2512Autosomal recessive primary microcephaly2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TAF2 CL E G H687311536OMIM:615599Mental retardation, autosomal recessive 407
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TAF2 CL E G H687311536ORPHA:397951Microcephaly-thin corpus callosum-intellectual disability syndrome7
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TARS2 CL E G H8022230740OMIM:615918Combined oxidative phosphorylation deficiency 2128
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TBC1D20 CL E G H12863716133ORPHA:2510Micro syndromeHP:0040281 - Very frequent15
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome16
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome52
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TBCE CL E G H690511582OMIM:617207ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO52
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TBCE CL E G H690511582OMIM:241410Hypoparathyroidism-Retardation-Dysmorphism syndrome52
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndrome13
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TCF12 CL E G H693811623OMIM:615314Craniosynostosis 328
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040282 - Frequent241
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome241
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TCTN1 CL E G H7960026113ORPHA:475Joubert syndromeHP:0040283 - Occasional45
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040283 - Occasional45
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TCTN2 CL E G H7986725774ORPHA:475Joubert syndromeHP:0040283 - Occasional76
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040283 - Occasional76
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TCTN3 CL E G H2612324519OMIM:614815Joubert syndrome 1831
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040283 - Occasional31
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional31
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephaly1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephaly1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephaly1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephaly1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephaly1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TECPR2 CL E G H989519957ORPHA:320385Hereditary sensory and autonomic neuropathy due to TECPR2 mutation39
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TECPR2 CL E G H989519957OMIM:615031Spastic paraplegia 49, autosomal recessive39
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TGFB1 CL E G H704011766OMIM:618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE13
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephaly32
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephaly32
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephaly32
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephaly32
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0THUMPD1 CL E G H5562323807OMIM:619989
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TMCO1 CL E G H5449918188ORPHA:1394Cerebrofaciothoracic dysplasia6
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040283 - Occasional4
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TMEM138 CL E G H5152426944ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional39
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TMEM216 CL E G H5125925018ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional45
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040283 - Occasional45
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional45
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TMEM218 CL E G H21985427344ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TMEM231 CL E G H7958337234ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional33
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040283 - Occasional33
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TMEM237 CL E G H6506214432ORPHA:475Joubert syndromeHP:0040283 - Occasional82
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TMEM237 CL E G H6506214432ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional82
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TMEM237 CL E G H6506214432ORPHA:220497Joubert syndrome with renal defect82
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040283 - Occasional82
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TMEM260 CL E G H5491620185OMIM:617478Structural heart defects and renal anomalies syndrome2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TMEM67 CL E G H9114728396ORPHA:475Joubert syndromeHP:0040283 - Occasional166
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional166
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040283 - Occasional166
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TMEM70 CL E G H5496826050ORPHA:1194TMEM70-related mitochondrial encephalo-cardio-myopathyHP:0040282 - Frequent63
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TMTC3 CL E G H16041826899OMIM:617255Lissencephaly 85
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TMX2 CL E G H5107530739OMIM:618730NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TOE1 CL E G H11403415954ORPHA:284339Pontocerebellar hypoplasia type 76
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TOGARAM1 CL E G H2311619959ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional61
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TP73 CL E G H716112003OMIM:619466CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TRAPPC10 CL E G H710911868ORPHA:2512Autosomal recessive primary microcephaly1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TRAPPC12 CL E G H5111224284ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TRAPPC12 CL E G H5111224284OMIM:617669Encephalopathy, progressive, early-onset, with brain atrophy and spasticity2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TRAPPC14 CL E G H5526225604ORPHA:2512Autosomal recessive primary microcephaly
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TRAPPC14 CL E G H5526225604OMIM:618351Microcephaly 25, primary, autosomal recessive
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome158
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13158
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TREM2 CL E G H5420917761OMIM:618193POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL231
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndrome56
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathy1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome7
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TRNF CL E G H45587481ORPHA:550MELAS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TRNH CL E G H45647487ORPHA:550MELAS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TRNL1 CL E G H45677490ORPHA:550MELAS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TRNQ CL E G H45727495ORPHA:550MELAS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TRNS1 CL E G H45747497ORPHA:550MELAS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TRNS2 CL E G H45757498ORPHA:550MELAS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TRNW CL E G H45787501ORPHA:550MELAS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 23
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 284
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TSEN2 CL E G H8074628422OMIM:612389Pontocerebellar hypoplasia, type 2B84
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 257
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2102
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome11
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TUBA1A CL E G H784620766OMIM:611603Lissencephaly 3106
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TUBA1A CL E G H784620766ORPHA:171680Lissencephaly due to TUBA1A mutation106
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TUBA8 CL E G H5180712410ORPHA:250972Polymicrogyria with optic nerve hypoplasia21
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TUBB CL E G H20306820778OMIM:615771Cortical dysplasia, complex, with other brain malformations 614
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 114
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TUBB2A CL E G H728012412OMIM:615763Cortical dysplasia, complex, with other brain malformations 523
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TUBB2B CL E G H34773330829OMIM:610031Cortical dysplasia, complex, with other brain malformations 739
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TUBB2B CL E G H34773330829ORPHA:300573Polymicrogyria due to TUBB2B mutation39
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation64
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TUBB3 CL E G H1038120772OMIM:614039Cortical dysplasia, complex, with other brain malformations 164
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement64
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TUBGCP2 CL E G H1084418599OMIM:618737PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040283 - Occasional2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0TYROBP CL E G H730512449OMIM:221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy22
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0UBA5 CL E G H7987623230OMIM:617132Epileptic encephalopathy, early infantile, 4413
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion278
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndrome
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0UBTF CL E G H734312511OMIM:617672Neurodegeneration, childhood-onset, with brain atrophy1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 223
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome23
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0UPF3B CL E G H6510920439ORPHA:776Lujan-Fryns syndromeHP:0040282 - Frequent33
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndrome2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted27
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability27
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0VAMP2 CL E G H684412643OMIM:618760NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0VANGL2 CL E G H5721615511ORPHA:563612Isolated exencephaly2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0VARS2 CL E G H5717621642OMIM:615917Combined oxidative phosphorylation deficiency 2056
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0VAX1 CL E G H1102312660OMIM:614402Microphthalmia, syndromic 115
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0VPS11 CL E G H5582314583OMIM:616683Leukodystrophy, hypomyelinating, 121
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0VPS11 CL E G H5582314583ORPHA:466934VPS11-related autosomal recessive hypomyelinating leukodystrophy1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0VPS50 CL E G H5561025956OMIM:619685NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0VPS53 CL E G H5527525608OMIM:615851Pontocerebellar hypoplasia, type 2E26
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0VWA3B CL E G H20040328385OMIM:616948Spinocerebellar ataxia, autosomal recessive 221
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome20
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion20
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome8
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0WDR26 CL E G H8023221208OMIM:617616Skraban-Deardorff syndrome8
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type136
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0WDR4 CL E G H1078512756OMIM:618346Microcephaly, growth deficiency, seizures, and brain malformations
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0WDR45B CL E G H5627025072OMIM:617977Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0WDR62 CL E G H28440324502ORPHA:2512Autosomal recessive primary microcephaly224
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations224
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 114
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0WDR81 CL E G H12499726600OMIM:610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome227
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndrome12
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0WWOX CL E G H5174112799OMIM:616211Epileptic encephalopathy, early infantile, 28149
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0YIF1B CL E G H9052230511OMIM:619125KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0YWHAE CL E G H753112851ORPHA:21738517p13.3 microduplication syndrome14
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0YWHAE CL E G H753112851ORPHA:531Miller-Dieker syndrome14
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndrome7
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ZBTB18 CL E G H1047213030ORPHA:36367Distal monosomy 1qHP:0040281 - Very frequent16
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 2216
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ZDHHC9 CL E G H5111418475ORPHA:776Lujan-Fryns syndromeHP:0040282 - Frequent10
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutation362
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22362
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ZFR CL E G H5166317277ORPHA:401840Autosomal recessive spastic paraplegia type 711
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15189
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ZFYVE26 CL E G H2350320761OMIM:270700Spastic paraplegia 15, autosomal recessive189
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ZIC1 CL E G H754512872OMIM:616602Craniosynostosis 65
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ZIC1 CL E G H754512872OMIM:618736STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS5
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephaly34
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephaly34
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephaly34
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephaly34
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephaly34
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies4
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ZNF335 CL E G H6392515807OMIM:615095Microcephaly 10, primary, autosomal recessive60
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ZNF423 CL E G H2309016762ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional49
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ZNHIT3 CL E G H932612309OMIM:260565Peho syndrome1
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ZSWIM6 CL E G H5768829316OMIM:603671Acromelic frontonasal dysostosis5
HP:0007370HP:0007370Aplasia/Hypoplasia of the corpus callosum0ZSWIM6 CL E G H5768829316ORPHA:1827Acromelic frontonasal dysplasia5
HP:0007370HP:0001274Agenesis of corpus callosum1ABAT CL E G H1823OMIM:613163GABA-transaminase deficiency.120
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ACER3 CL E G H5533116066OMIM:617762Leukodystrophy, progressive, early childhood-onset.
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ACO2 CL E G H50118OMIM:614559INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD60
HP:0007370HP:0001274Agenesis of corpus callosum1ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 1.72
HP:0007370HP:0001274Agenesis of corpus callosum1ACTG1 CL E G H71144OMIM:614583Baraitser-Winter syndrome 2HP:0040283 - Occasional123
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ACTL6B CL E G H51412160OMIM:618468DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE762
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects.2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent116
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040284 - Very rare9
HP:0007370HP:0001274Agenesis of corpus callosum1ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040284 - Very rare9
HP:0007370HP:0001274Agenesis of corpus callosum1ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 36.9
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040283 - Occasional47
HP:0007370HP:0002079Hypoplasia of the corpus callosum1AHCY CL E G H191343ORPHA:88618S-adenosylhomocysteine hydrolase deficiencyHP:0040282 - Frequent31
HP:0007370HP:0002079Hypoplasia of the corpus callosum1AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeHP:0040283 - Occasional36
HP:0007370HP:0002079Hypoplasia of the corpus callosum1AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome.36
HP:0007370HP:0001274Agenesis of corpus callosum1AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional175
HP:0007370HP:0002079Hypoplasia of the corpus callosum1AIFM1 CL E G H91318768ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndromeHP:0040282 - Frequent60
HP:0007370HP:0002079Hypoplasia of the corpus callosum1AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration.60
HP:0007370HP:0002079Hypoplasia of the corpus callosum1AIMP2 CL E G H796520609OMIM:618006Leukodystrophy, hypomyelinating, 17.1
HP:0007370HP:0002079Hypoplasia of the corpus callosum1AKT3 CL E G H10000393OMIM:615937Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2.19
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ALDH6A1 CL E G H43297179OMIM:614105Methylmalonate semialdehyde dehydrogenase deficiency.35
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ALDH7A1 CL E G H501877ORPHA:3006Pyridoxine-dependent epilepsyHP:0040282 - Frequent227
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ALG2 CL E G H8536523159ORPHA:79326ALG2-CDGHP:0040283 - Occasional46
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ALG3 CL E G H1019523056ORPHA:79321ALG3-CDGHP:0040284 - Very rare37
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ALG8 CL E G H7905323161ORPHA:79325ALG8-CDGHP:0040283 - Occasional46
HP:0007370HP:0001274Agenesis of corpus callosum1ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndromeHP:0040282 - Frequent5
HP:0007370HP:0001274Agenesis of corpus callosum1ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 1.9
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2.132
HP:0007370HP:0001274Agenesis of corpus callosum1ALX4 CL E G H60529450ORPHA:228390Frontonasal dysplasia-alopecia-genital anomalies syndromeHP:0040282 - Frequent132
HP:0007370HP:0001274Agenesis of corpus callosum1AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0007370HP:0002079Hypoplasia of the corpus callosum1AMPD2 CL E G H271469OMIM:615809Pontocerebellar hypoplasia, type 9.21
HP:0007370HP:0002079Hypoplasia of the corpus callosum1AMPD2 CL E G H271469OMIM:615686Spastic paraplegia 63, autosomal recessiveHP:0040283 - Occasional21
HP:0007370HP:0001274Agenesis of corpus callosum1AMT CL E G H275473OMIM:605899Glycine encephalopathy.56
HP:0007370HP:0001274Agenesis of corpus callosum1ANKLE2 CL E G H2314129101ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent3
HP:0007370HP:0001274Agenesis of corpus callosum1ANKLE2 CL E G H2314129101OMIM:616681Microcephaly 16, primary, autosomal recessive.3
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndromeHP:0040282 - Frequent102
HP:0007370HP:0001274Agenesis of corpus callosum1AP1G1 CL E G H164555OMIM:619548USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0007370HP:0002079Hypoplasia of the corpus callosum1AP3B2 CL E G H8120567OMIM:617276EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE487
HP:0007370HP:0002079Hypoplasia of the corpus callosum1AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional49
HP:0007370HP:0002079Hypoplasia of the corpus callosum1AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessive.49
HP:0007370HP:0002079Hypoplasia of the corpus callosum1AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional48
HP:0007370HP:0002079Hypoplasia of the corpus callosum1AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional41
HP:0007370HP:0002079Hypoplasia of the corpus callosum1AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive.41
HP:0007370HP:0002079Hypoplasia of the corpus callosum1AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional18
HP:0007370HP:0002079Hypoplasia of the corpus callosum1AP5Z1 CL E G H990722197ORPHA:306511Autosomal recessive spastic paraplegia type 48HP:0040281 - Very frequent165
HP:0007370HP:0002079Hypoplasia of the corpus callosum1AP5Z1 CL E G H990722197OMIM:613647Spastic paraplegia 48, autosomal recessive.165
HP:0007370HP:0002079Hypoplasia of the corpus callosum1APC2 CL E G H1029724036OMIM:618677CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM101
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ARFGEF2 CL E G H1056415853OMIM:608097Periventricular heterotopia with microcephaly, autosomal recessive.179
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1.147
HP:0007370HP:0001274Agenesis of corpus callosum1ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional88
HP:0007370HP:0001274Agenesis of corpus callosum1ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndromeHP:0040282 - Frequent219
HP:0007370HP:0001274Agenesis of corpus callosum1ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional219
HP:0007370HP:0001274Agenesis of corpus callosum1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0007370HP:0001274Agenesis of corpus callosum1ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional25
HP:0007370HP:0001274Agenesis of corpus callosum1ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrumHP:0040282 - Frequent
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ARNT2 CL E G H991516876OMIM:615926Webb-Dattani syndrome.
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ARSI CL E G H34007532521ORPHA:401815Autosomal recessive spastic paraplegia type 66HP:0040282 - Frequent1
HP:0007370HP:0001274Agenesis of corpus callosum1ARX CL E G H17030218060ORPHA:2508Corpus callosum agenesis-abnormal genitalia syndromeHP:0040281 - Very frequent166
HP:0007370HP:0001274Agenesis of corpus callosum1ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia166
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0007370HP:0001274Agenesis of corpus callosum1ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2.166
HP:0007370HP:0001274Agenesis of corpus callosum1ARX CL E G H17030218060ORPHA:452X-linked lissencephaly with abnormal genitaliaHP:0040281 - Very frequent166
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ASNS CL E G H440753OMIM:615574Asparagine synthetase deficiency.17
HP:0007370HP:0001274Agenesis of corpus callosum1ASPM CL E G H25926619048ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent512
HP:0007370HP:0001274Agenesis of corpus callosum1ASPM CL E G H25926619048OMIM:608716Microcephaly 5, primary, autosomal recessive.512
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ASPM CL E G H25926619048OMIM:608716Microcephaly 5, primary, autosomal recessive.512
HP:0007370HP:0001274Agenesis of corpus callosum1ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0007370HP:0001274Agenesis of corpus callosum1ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ATL1 CL E G H5106211231OMIM:182600Spastic paraplegia 3, autosomal dominantHP:0040283 - Occasional71
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies.16
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78HP:0040282 - Frequent100
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040283 - Occasional36
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID.3
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 3.3
HP:0007370HP:0001274Agenesis of corpus callosum1ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040283 - Occasional169
HP:0007370HP:0001274Agenesis of corpus callosum1B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent43
HP:0007370HP:0001274Agenesis of corpus callosum1B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0007370HP:0001274Agenesis of corpus callosum1B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13.17
HP:0007370HP:0001274Agenesis of corpus callosum1B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent17
HP:0007370HP:0002079Hypoplasia of the corpus callosum1BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0007370HP:0002079Hypoplasia of the corpus callosum1BICD2 CL E G H2329917208OMIM:618291Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant.46
HP:0007370HP:0001274Agenesis of corpus callosum1BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomaliesHP:0040283 - Occasional38
HP:0007370HP:0002079Hypoplasia of the corpus callosum1BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.20
HP:0007370HP:0002079Hypoplasia of the corpus callosum1BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040282 - Frequent7
HP:0007370HP:0001274Agenesis of corpus callosum1BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0007370HP:0002079Hypoplasia of the corpus callosum1BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 176
HP:0007370HP:0001274Agenesis of corpus callosum1C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome.13
HP:0007370HP:0001274Agenesis of corpus callosum1C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0007370HP:0002079Hypoplasia of the corpus callosum1C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0007370HP:0002079Hypoplasia of the corpus callosum1C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV.27
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0007370HP:0001274Agenesis of corpus callosum1CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 27HP:0040283 - Occasional35
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 27.35
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional118
HP:0007370HP:0001274Agenesis of corpus callosum1CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent3
HP:0007370HP:0001274Agenesis of corpus callosum1CC2D2A CL E G H5754529253OMIM:619111COACH SYNDROME 2; COACH2247
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CCDC174 CL E G H5124428033OMIM:616816Hypotonia, infantile, with psychomotor retardation1
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CCDC88A CL E G H5570425523OMIM:617507Peho-Like syndrome.1
HP:0007370HP:0001274Agenesis of corpus callosum1CDC40 CL E G H5136217350OMIM:619302PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040282 - Frequent6
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome.6
HP:0007370HP:0001274Agenesis of corpus callosum1CDC42BPB CL E G H95781738OMIM:619841
HP:0007370HP:0001274Agenesis of corpus callosum1CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CDK10 CL E G H85581770OMIM:617694Al Kaissi syndromeHP:0040284 - Very rare2
HP:0007370HP:0001274Agenesis of corpus callosum1CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorderHP:0040283 - Occasional8
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder.8
HP:0007370HP:0001274Agenesis of corpus callosum1CDK5 CL E G H10201774OMIM:616342Lissencephaly 7 with cerebellar hypoplasia.3
HP:0007370HP:0001274Agenesis of corpus callosum1CDK5RAP2 CL E G H5575518672ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent181
HP:0007370HP:0001274Agenesis of corpus callosum1CDK5RAP2 CL E G H5575518672OMIM:604804Microcephaly 3, primary, autosomal recessive181
HP:0007370HP:0001274Agenesis of corpus callosum1CDK6 CL E G H10211777ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent6
HP:0007370HP:0001274Agenesis of corpus callosum1CDK8 CL E G H10241779OMIM:618748INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional405
HP:0007370HP:0001274Agenesis of corpus callosum1CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional200
HP:0007370HP:0001274Agenesis of corpus callosum1CDON CL E G H5093717104OMIM:614226Holoprosencephaly 11200
HP:0007370HP:0001274Agenesis of corpus callosum1CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional200
HP:0007370HP:0001274Agenesis of corpus callosum1CDON CL E G H5093717104ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional200
HP:0007370HP:0001274Agenesis of corpus callosum1CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional200
HP:0007370HP:0001274Agenesis of corpus callosum1CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional200
HP:0007370HP:0001274Agenesis of corpus callosum1CENPE CL E G H10621856OMIM:616051Microcephaly 13, primary, autosomal recessive20
HP:0007370HP:0001274Agenesis of corpus callosum1CENPF CL E G H10631857OMIM:243605Stromme syndrome27
HP:0007370HP:0001274Agenesis of corpus callosum1CENPJ CL E G H5583517272ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent161
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CEP120 CL E G H15324126690OMIM:617761Joubert syndrome 31.7
HP:0007370HP:0001274Agenesis of corpus callosum1CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional7
HP:0007370HP:0001274Agenesis of corpus callosum1CEP135 CL E G H966229086ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent38
HP:0007370HP:0001274Agenesis of corpus callosum1CEP152 CL E G H2299529298ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent146
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CEP290 CL E G H8018429021OMIM:611134Meckel syndrome, type 4342
HP:0007370HP:0001274Agenesis of corpus callosum1CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional90
HP:0007370HP:0001274Agenesis of corpus callosum1CEP63 CL E G H8025425815ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent31
HP:0007370HP:0001274Agenesis of corpus callosum1CFC1 CL E G H5599718292OMIM:605376Heterotaxy, visceral, 2, autosomal13
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 8.19
HP:0007370HP:0001274Agenesis of corpus callosum1CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0007370HP:0001274Agenesis of corpus callosum1CIT CL E G H111131985ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent15
HP:0007370HP:0001274Agenesis of corpus callosum1CIT CL E G H111131985OMIM:617090Microcephaly 17, primary, autosomal recessive.15
HP:0007370HP:0001274Agenesis of corpus callosum1CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0007370HP:0001274Agenesis of corpus callosum1CLCN3 CL E G H11822021OMIM:619517NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040283 - Occasional45
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndrome45
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CLP1 CL E G H1097816999OMIM:615803Pontocerebellar hypoplasia, type 10.7
HP:0007370HP:0001274Agenesis of corpus callosum1CNOT1 CL E G H230197877ORPHA:556955Pancreatic agenesis-holoprosencephaly syndromeHP:0040282 - Frequent2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CNTNAP1 CL E G H85068011OMIM:616286Lethal congenital contracture syndrome 7.9
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 3.9
HP:0007370HP:0002079Hypoplasia of the corpus callosum1COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 6.16
HP:0007370HP:0002079Hypoplasia of the corpus callosum1COG2 CL E G H227966546ORPHA:435934COG2-CDGHP:0040281 - Very frequent2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1COG2 CL E G H227966546OMIM:617395Congenital disorder of glycosylation, type IIq.2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1COG4 CL E G H2583918620ORPHA:263501COG4-CDGHP:0040283 - Occasional67
HP:0007370HP:0002079Hypoplasia of the corpus callosum1COG4 CL E G H2583918620OMIM:613489Congenital disorder of glycosylation, type IIjHP:0040283 - Occasional67
HP:0007370HP:0002079Hypoplasia of the corpus callosum1COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0007370HP:0002079Hypoplasia of the corpus callosum1COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0007370HP:0001274Agenesis of corpus callosum1COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent193
HP:0007370HP:0001274Agenesis of corpus callosum1COPB2 CL E G H92762232ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent
HP:0007370HP:0002079Hypoplasia of the corpus callosum1COPB2 CL E G H92762232OMIM:617800Microcephaly 19, primary, autosomal recessive.
HP:0007370HP:0001274Agenesis of corpus callosum1COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0002079Hypoplasia of the corpus callosum1COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0002079Hypoplasia of the corpus callosum1COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0001274Agenesis of corpus callosum1COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0001274Agenesis of corpus callosum1COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0002079Hypoplasia of the corpus callosum1COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0002079Hypoplasia of the corpus callosum1COX7B CL E G H13492291OMIM:300887Linear skin defects with multiple congenital anomalies 2HP:0040283 - Occasional6
HP:0007370HP:0001274Agenesis of corpus callosum1COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional6
HP:0007370HP:0001274Agenesis of corpus callosum1COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 7.6
HP:0007370HP:0001274Agenesis of corpus callosum1CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0007370HP:0001274Agenesis of corpus callosum1CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0007370HP:0001274Agenesis of corpus callosum1CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional1
HP:0007370HP:0001274Agenesis of corpus callosum1CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal formHP:0040282 - Frequent101
HP:0007370HP:0001274Agenesis of corpus callosum1CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal.101
HP:0007370HP:0001274Agenesis of corpus callosum1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7.
HP:0007370HP:0001274Agenesis of corpus callosum1CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0007370HP:0001274Agenesis of corpus callosum1CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent
HP:0007370HP:0001274Agenesis of corpus callosum1CSF1R CL E G H14362433OMIM:618476Brain abnormalities, neurodegeneration, and dysosteosclerosis.149
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CSPP1 CL E G H7984826193OMIM:615636Joubert syndrome 21.57
HP:0007370HP:0001274Agenesis of corpus callosum1CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional2
HP:0007370HP:0001274Agenesis of corpus callosum1CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CTNNA2 CL E G H14962510OMIM:618174Cortical dysplasia, complex, with other brain malformations 9.2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects.88
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CTNNB1 CL E G H14992514ORPHA:404473Severe intellectual disability-progressive spastic diplegia syndromeHP:0040283 - Occasional88
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome1
HP:0007370HP:0001274Agenesis of corpus callosum1CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome1
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas typeHP:0040283 - Occasional38
HP:0007370HP:0001274Agenesis of corpus callosum1CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiencyHP:0040283 - Occasional9
HP:0007370HP:0001274Agenesis of corpus callosum1CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0007370HP:0001274Agenesis of corpus callosum1CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CYP2U1 CL E G H11361220582ORPHA:320411Autosomal recessive spastic paraplegia type 56HP:0040283 - Occasional18
HP:0007370HP:0002079Hypoplasia of the corpus callosum1CYP2U1 CL E G H11361220582OMIM:615030Spastic paraplegia 56, autosomal recessiveHP:0040283 - Occasional18
HP:0007370HP:0001274Agenesis of corpus callosum1CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathyHP:0040284 - Very rare
HP:0007370HP:0001274Agenesis of corpus callosum1DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophyHP:0040282 - Frequent108
HP:0007370HP:0002079Hypoplasia of the corpus callosum1DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9.108
HP:0007370HP:0001274Agenesis of corpus callosum1DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent108
HP:0007370HP:0002079Hypoplasia of the corpus callosum1DARS1 CL E G H16152678OMIM:615281HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0007370HP:0002079Hypoplasia of the corpus callosum1DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040284 - Very rare60
HP:0007370HP:0001274Agenesis of corpus callosum1DCC CL E G H16302701ORPHA:238722Familial congenital mirror movementsHP:0040283 - Occasional36
HP:0007370HP:0001274Agenesis of corpus callosum1DCC CL E G H16302701OMIM:617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS236
HP:0007370HP:0001274Agenesis of corpus callosum1DCC CL E G H16302701OMIM:157600Mirror movements 1HP:0040284 - Very rare36
HP:0007370HP:0001274Agenesis of corpus callosum1DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional27
HP:0007370HP:0002079Hypoplasia of the corpus callosum1DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional27
HP:0007370HP:0002079Hypoplasia of the corpus callosum1DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0007370HP:0002079Hypoplasia of the corpus callosum1DCX CL E G H16412714ORPHA:2148Lissencephaly type 1 due to doublecortin gene mutationHP:0040283 - Occasional145
HP:0007370HP:0001274Agenesis of corpus callosum1DCX CL E G H16412714OMIM:300067Lissencephaly, X-linked, 1.145
HP:0007370HP:0002079Hypoplasia of the corpus callosum1DDHD2 CL E G H2325929106ORPHA:320380Autosomal recessive spastic paraplegia type 54HP:0040282 - Frequent29
HP:0007370HP:0002079Hypoplasia of the corpus callosum1DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive.29
HP:0007370HP:0002079Hypoplasia of the corpus callosum1DDX3X CL E G H16542745OMIM:300958MENTAL RETARDATION, X-LINKED 102; MRX10257
HP:0007370HP:0002079Hypoplasia of the corpus callosum1DDX3X CL E G H16542745ORPHA:457260X-linked intellectual disability-hypotonia-movement disorder syndromeHP:0040283 - Occasional57
HP:0007370HP:0001274Agenesis of corpus callosum1DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 5HP:0040283 - Occasional2
HP:0007370HP:0001274Agenesis of corpus callosum1DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome VHP:0040283 - Occasional2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0007370HP:0001274Agenesis of corpus callosum1DHCR24 CL E G H17182859ORPHA:35107DesmosterolosisHP:0040281 - Very frequent72
HP:0007370HP:0001274Agenesis of corpus callosum1DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS72
HP:0007370HP:0002079Hypoplasia of the corpus callosum1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0007370HP:0001274Agenesis of corpus callosum1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0007370HP:0001274Agenesis of corpus callosum1DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0007370HP:0002079Hypoplasia of the corpus callosum1DIAPH1 CL E G H17292876OMIM:616632Seizures, cortical blindness, and microcephaly syndrome.118
HP:0007370HP:0001274Agenesis of corpus callosum1DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome.164
HP:0007370HP:0001274Agenesis of corpus callosum1DISC1 CL E G H271852888ORPHA:171703Microcephaly-polymicrogyria-corpus callosum agenesis syndromeHP:0040282 - Frequent2
HP:0007370HP:0001274Agenesis of corpus callosum1DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional22
HP:0007370HP:0001274Agenesis of corpus callosum1DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional22
HP:0007370HP:0001274Agenesis of corpus callosum1DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional22
HP:0007370HP:0001274Agenesis of corpus callosum1DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional22
HP:0007370HP:0001274Agenesis of corpus callosum1DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional22
HP:0007370HP:0001274Agenesis of corpus callosum1DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional3
HP:0007370HP:0001274Agenesis of corpus callosum1DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional3
HP:0007370HP:0001274Agenesis of corpus callosum1DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional3
HP:0007370HP:0001274Agenesis of corpus callosum1DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional3
HP:0007370HP:0001274Agenesis of corpus callosum1DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional3
HP:0007370HP:0002079Hypoplasia of the corpus callosum1DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0007370HP:0001274Agenesis of corpus callosum1DNAL4 CL E G H101262955ORPHA:238722Familial congenital mirror movementsHP:0040283 - Occasional2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndromeHP:0040282 - Frequent11
HP:0007370HP:0002079Hypoplasia of the corpus callosum1DOCK7 CL E G H8544019190OMIM:615859Epileptic encephalopathy, early infantile, 23.11
HP:0007370HP:0002079Hypoplasia of the corpus callosum1DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0007370HP:0001274Agenesis of corpus callosum1DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional
HP:0007370HP:0001274Agenesis of corpus callosum1DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndromeHP:0040283 - Occasional3
HP:0007370HP:0001274Agenesis of corpus callosum1DPYD CL E G H18063012OMIM:274270Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0007370HP:0001274Agenesis of corpus callosum1DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0007370HP:0002079Hypoplasia of the corpus callosum1DYNC1H1 CL E G H17782961OMIM:614563Mental retardation, autosomal dominant 13HP:0040283 - Occasional427
HP:0007370HP:0001274Agenesis of corpus callosum1DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies1
HP:0007370HP:0002079Hypoplasia of the corpus callosum1DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies1
HP:0007370HP:0001274Agenesis of corpus callosum1DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3HP:0040283 - Occasional304
HP:0007370HP:0001274Agenesis of corpus callosum1DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040283 - Occasional304
HP:0007370HP:0001274Agenesis of corpus callosum1DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040283 - Occasional
HP:0007370HP:0001274Agenesis of corpus callosum1DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040283 - Occasional
HP:0007370HP:0002079Hypoplasia of the corpus callosum1DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040283 - Occasional134
HP:0007370HP:0002079Hypoplasia of the corpus callosum1DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040283 - Occasional134
HP:0007370HP:0002079Hypoplasia of the corpus callosum1EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 12.80
HP:0007370HP:0002079Hypoplasia of the corpus callosum1EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040282 - Frequent51
HP:0007370HP:0002079Hypoplasia of the corpus callosum1EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040283 - Occasional27
HP:0007370HP:0001274Agenesis of corpus callosum1EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0007370HP:0002079Hypoplasia of the corpus callosum1EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0007370HP:0001274Agenesis of corpus callosum1EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040283 - Occasional223
HP:0007370HP:0002079Hypoplasia of the corpus callosum1EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional223
HP:0007370HP:0002079Hypoplasia of the corpus callosum1EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0007370HP:0002079Hypoplasia of the corpus callosum1EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome.8
HP:0007370HP:0002079Hypoplasia of the corpus callosum1EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation.5
HP:0007370HP:0001274Agenesis of corpus callosum1EML1 CL E G H20093330OMIM:600348Band heterotopia.3
HP:0007370HP:0001274Agenesis of corpus callosum1EMX2 CL E G H20183341OMIM:269160SCHIZENCEPHALY7
HP:0007370HP:0001274Agenesis of corpus callosum1EOMES CL E G H83203372ORPHA:171703Microcephaly-polymicrogyria-corpus callosum agenesis syndromeHP:0040282 - Frequent7
HP:0007370HP:0001274Agenesis of corpus callosum1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0007370HP:0001274Agenesis of corpus callosum1EPG5 CL E G H5772429331ORPHA:1493Vici syndromeHP:0040281 - Very frequent40
HP:0007370HP:0001274Agenesis of corpus callosum1EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0007370HP:0002079Hypoplasia of the corpus callosum1EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15.
HP:0007370HP:0001274Agenesis of corpus callosum1ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0007370HP:0001274Agenesis of corpus callosum1ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0007370HP:0001274Agenesis of corpus callosum1ERCC5 CL E G H20733437OMIM:616570Cerebrooculofacioskeletal syndrome 383
HP:0007370HP:0001274Agenesis of corpus callosum1ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1.199
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 18HP:0040282 - Frequent18
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ERLIN2 CL E G H111601356OMIM:611225Spastic paraplegia 18, autosomal recessiveHP:0040283 - Occasional18
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndromeHP:0040281 - Very frequent36
HP:0007370HP:0002079Hypoplasia of the corpus callosum1EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0007370HP:0002079Hypoplasia of the corpus callosum1EXOC7 CL E G H2326523214OMIM:619072NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0007370HP:0002079Hypoplasia of the corpus callosum1EXOC8 CL E G H14937124659OMIM:619076NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB1
HP:0007370HP:0002079Hypoplasia of the corpus callosum1EXOSC1 CL E G H5101317286OMIM:619304PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0007370HP:0002079Hypoplasia of the corpus callosum1EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C.4
HP:0007370HP:0002079Hypoplasia of the corpus callosum1EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0007370HP:0002079Hypoplasia of the corpus callosum1FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 35HP:0040282 - Frequent76
HP:0007370HP:0002079Hypoplasia of the corpus callosum1FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegenerationHP:0040282 - Frequent76
HP:0007370HP:0002079Hypoplasia of the corpus callosum1FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessive.76
HP:0007370HP:0002079Hypoplasia of the corpus callosum1FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0007370HP:0001274Agenesis of corpus callosum1FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0007370HP:0002079Hypoplasia of the corpus callosum1FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0007370HP:0001274Agenesis of corpus callosum1FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I.157
HP:0007370HP:0001274Agenesis of corpus callosum1FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional114
HP:0007370HP:0002079Hypoplasia of the corpus callosum1FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional114
HP:0007370HP:0002079Hypoplasia of the corpus callosum1FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0007370HP:0002079Hypoplasia of the corpus callosum1FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type).384
HP:0007370HP:0002079Hypoplasia of the corpus callosum1FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0007370HP:0001274Agenesis of corpus callosum1FCSK CL E G H19725829500OMIM:618324Congenital disorder of glycosylation with defective fucosylation 2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0007370HP:0002079Hypoplasia of the corpus callosum1FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeHP:0040283 - Occasional
HP:0007370HP:0001274Agenesis of corpus callosum1FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional17
HP:0007370HP:0001274Agenesis of corpus callosum1FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional17
HP:0007370HP:0001274Agenesis of corpus callosum1FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional17
HP:0007370HP:0001274Agenesis of corpus callosum1FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional17
HP:0007370HP:0001274Agenesis of corpus callosum1FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional17
HP:0007370HP:0001274Agenesis of corpus callosum1FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent172
HP:0007370HP:0001274Agenesis of corpus callosum1FGFR1 CL E G H22603688OMIM:613001Encephalocraniocutaneous lipomatosis.172
HP:0007370HP:0002079Hypoplasia of the corpus callosum1FGFR1 CL E G H22603688OMIM:613001Encephalocraniocutaneous lipomatosis.172
HP:0007370HP:0001274Agenesis of corpus callosum1FGFR1 CL E G H22603688OMIM:615465Hartsfield syndrome.172
HP:0007370HP:0001274Agenesis of corpus callosum1FGFR1 CL E G H22603688OMIM:147950Hypogonadotropic hypogonadism 2 with or without anosmiaHP:0040283 - Occasional172
HP:0007370HP:0001274Agenesis of corpus callosum1FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional172
HP:0007370HP:0001274Agenesis of corpus callosum1FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional172
HP:0007370HP:0001274Agenesis of corpus callosum1FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional172
HP:0007370HP:0001274Agenesis of corpus callosum1FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrumHP:0040282 - Frequent172
HP:0007370HP:0001274Agenesis of corpus callosum1FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0007370HP:0001274Agenesis of corpus callosum1FGFR2 CL E G H22633689ORPHA:87Apert syndromeHP:0040282 - Frequent175
HP:0007370HP:0001274Agenesis of corpus callosum1FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome.175
HP:0007370HP:0002079Hypoplasia of the corpus callosum1FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans.145
HP:0007370HP:0002079Hypoplasia of the corpus callosum1FGFR3 CL E G H22613690ORPHA:85165Severe achondroplasia-developmental delay-acanthosis nigricans syndromeHP:0040281 - Very frequent145
HP:0007370HP:0001274Agenesis of corpus callosum1FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0007370HP:0001274Agenesis of corpus callosum1FH CL E G H22713700OMIM:606812Fumarase deficiency.301
HP:0007370HP:0001274Agenesis of corpus callosum1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0007370HP:0002079Hypoplasia of the corpus callosum1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0007370HP:0001274Agenesis of corpus callosum1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0007370HP:0001274Agenesis of corpus callosum1FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional157
HP:0007370HP:0002079Hypoplasia of the corpus callosum1FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional157
HP:0007370HP:0001274Agenesis of corpus callosum1FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.157
HP:0007370HP:0002079Hypoplasia of the corpus callosum1FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.157
HP:0007370HP:0001274Agenesis of corpus callosum1FKRP CL E G H7914717997OMIM:613153MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5157
HP:0007370HP:0001274Agenesis of corpus callosum1FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent157
HP:0007370HP:0001274Agenesis of corpus callosum1FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.184
HP:0007370HP:0002079Hypoplasia of the corpus callosum1FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.184
HP:0007370HP:0001274Agenesis of corpus callosum1FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4.184
HP:0007370HP:0001274Agenesis of corpus callosum1FKTN CL E G H22183622ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent184
HP:0007370HP:0002079Hypoplasia of the corpus callosum1FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome.332
HP:0007370HP:0001274Agenesis of corpus callosum1FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040283 - Occasional8
HP:0007370HP:0002079Hypoplasia of the corpus callosum1FLNA CL E G H23163754ORPHA:555877FLNA-related X-linked myxomatous valvular dysplasia493
HP:0007370HP:0002079Hypoplasia of the corpus callosum1FLNA CL E G H23163754OMIM:300049Heterotopia, periventricular, X-linked dominant493
HP:0007370HP:0001274Agenesis of corpus callosum1FLVCR2 CL E G H5564020105OMIM:225790Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome.47
HP:0007370HP:0001274Agenesis of corpus callosum1FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare
HP:0007370HP:0001274Agenesis of corpus callosum1FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletionHP:0040282 - Frequent177
HP:0007370HP:0002079Hypoplasia of the corpus callosum1FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0007370HP:0001274Agenesis of corpus callosum1FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional48
HP:0007370HP:0001274Agenesis of corpus callosum1FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional48
HP:0007370HP:0001274Agenesis of corpus callosum1FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional48
HP:0007370HP:0001274Agenesis of corpus callosum1FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional48
HP:0007370HP:0001274Agenesis of corpus callosum1FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional48
HP:0007370HP:0001274Agenesis of corpus callosum1FRMD4A CL E G H5569125491OMIM:616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia1
HP:0007370HP:0001274Agenesis of corpus callosum1FRMD4A CL E G H5569125491ORPHA:466688Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndromeHP:0040282 - Frequent1
HP:0007370HP:0002079Hypoplasia of the corpus callosum1FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0007370HP:0001274Agenesis of corpus callosum1FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type IIHP:0040284 - Very rare3
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GABRA5 CL E G H25584079OMIM:618559DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GABRB1 CL E G H25604081OMIM:617153Epileptic encephalopathy, early infantile, 45.3
HP:0007370HP:0001274Agenesis of corpus callosum1GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent10
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0007370HP:0001274Agenesis of corpus callosum1GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional2
HP:0007370HP:0001274Agenesis of corpus callosum1GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional2
HP:0007370HP:0001274Agenesis of corpus callosum1GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional2
HP:0007370HP:0001274Agenesis of corpus callosum1GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional2
HP:0007370HP:0001274Agenesis of corpus callosum1GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040283 - Occasional
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive.30
HP:0007370HP:0001274Agenesis of corpus callosum1GCSH CL E G H26534208OMIM:605899Glycine encephalopathy.5
HP:0007370HP:0001274Agenesis of corpus callosum1GDF1 CL E G H26574214OMIM:208530Right atrial isomerism (Ivemark).28
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GFER CL E G H26714236ORPHA:330054Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndromeHP:0040282 - Frequent14
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 185
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040283 - Occasional43
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessive37
HP:0007370HP:0001274Agenesis of corpus callosum1GLDC CL E G H27314313OMIM:605899Glycine encephalopathy.166
HP:0007370HP:0001274Agenesis of corpus callosum1GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional173
HP:0007370HP:0001274Agenesis of corpus callosum1GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare173
HP:0007370HP:0001274Agenesis of corpus callosum1GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0007370HP:0001274Agenesis of corpus callosum1GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional173
HP:0007370HP:0001274Agenesis of corpus callosum1GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional173
HP:0007370HP:0001274Agenesis of corpus callosum1GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional173
HP:0007370HP:0001274Agenesis of corpus callosum1GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional173
HP:0007370HP:0001274Agenesis of corpus callosum1GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndromeHP:0040283 - Occasional270
HP:0007370HP:0001274Agenesis of corpus callosum1GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GLRX5 CL E G H5121820134OMIM:616859Spasticity, childhood-onset, with hyperglycinemia17
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GLUL CL E G H27524341OMIM:610015GLUTAMINE DEFICIENCY, CONGENITAL98
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GLYCTK CL E G H13215824247ORPHA:941D-glyceric aciduriaHP:0040283 - Occasional6
HP:0007370HP:0001274Agenesis of corpus callosum1GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional34
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional34
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional36
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GNAO1 CL E G H27754389OMIM:615473Epileptic encephalopathy, early infantile, 17.36
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GNAO1 CL E G H27754389OMIM:617493Neurodevelopmental disorder with involuntary movements.36
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GOT2 CL E G H28064433OMIM:618721DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0007370HP:0001274Agenesis of corpus callosum1GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional73
HP:0007370HP:0001274Agenesis of corpus callosum1GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0007370HP:0001274Agenesis of corpus callosum1GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional
HP:0007370HP:0001274Agenesis of corpus callosum1GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0007370HP:0001274Agenesis of corpus callosum1GPSM2 CL E G H2989929501OMIM:604213CHUDLEY-MCCULLOUGH SYNDROME; CMCS74
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GPSM2 CL E G H2989929501OMIM:604213CHUDLEY-MCCULLOUGH SYNDROME; CMCS74
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GPT2 CL E G H8470618062OMIM:616281Mental retardation, autosomal recessive 49HP:0040283 - Occasional4
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndromeHP:0040283 - Occasional4
HP:0007370HP:0001274Agenesis of corpus callosum1GPX4 CL E G H28794556ORPHA:93317Spondylometaphyseal dysplasia, Sedaghatian typeHP:0040283 - Occasional3
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities.
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040283 - Occasional108
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional108
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant.108
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessiveHP:0040284 - Very rare108
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GRIN2A CL E G H29034585ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationHP:0040283 - Occasional434
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GRIN2A CL E G H29034585ORPHA:163721Rolandic epilepsy-speech dyspraxia syndromeHP:0040283 - Occasional434
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional5
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0007370HP:0001274Agenesis of corpus callosum1GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0007370HP:0001274Agenesis of corpus callosum1GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0007370HP:0002079Hypoplasia of the corpus callosum1GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome
HP:0007370HP:0001274Agenesis of corpus callosum1H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0007370HP:0002079Hypoplasia of the corpus callosum1HACE1 CL E G H5753121033OMIM:616756Spastic paraplegia and psychomotor retardation with or without seizuresHP:0040283 - Occasional10
HP:0007370HP:0002079Hypoplasia of the corpus callosum1HACE1 CL E G H5753121033ORPHA:464282Spastic paraplegia-severe developmental delay-epilepsy syndromeHP:0040283 - Occasional10
HP:0007370HP:0001274Agenesis of corpus callosum1HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional11
HP:0007370HP:0001274Agenesis of corpus callosum1HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 7.11
HP:0007370HP:0001274Agenesis of corpus callosum1HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare21
HP:0007370HP:0001274Agenesis of corpus callosum1HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional21
HP:0007370HP:0001274Agenesis of corpus callosum1HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrumHP:0040282 - Frequent21
HP:0007370HP:0001274Agenesis of corpus callosum1HESX1 CL E G H88204877OMIM:182230Septooptic dysplasia.21
HP:0007370HP:0001274Agenesis of corpus callosum1HIBCH CL E G H262754908OMIM:2506203-Hydroxyisobutyryl-Coa hydrolase deficiency.32
HP:0007370HP:0002079Hypoplasia of the corpus callosum1HIC1 CL E G H30904909ORPHA:531Miller-Dieker syndromeHP:0040283 - Occasional
HP:0007370HP:0002079Hypoplasia of the corpus callosum1HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 43HP:0040283 - Occasional13
HP:0007370HP:0002079Hypoplasia of the corpus callosum1HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0007370HP:0001274Agenesis of corpus callosum1HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0007370HP:0002079Hypoplasia of the corpus callosum1HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0007370HP:0002079Hypoplasia of the corpus callosum1HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0007370HP:0001274Agenesis of corpus callosum1HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0007370HP:0002079Hypoplasia of the corpus callosum1HNRNPR CL E G H102365047OMIM:620073
HP:0007370HP:0001274Agenesis of corpus callosum1HNRNPR CL E G H102365047OMIM:620073
HP:0007370HP:0001274Agenesis of corpus callosum1HNRNPU CL E G H31925048ORPHA:2387691q44 microdeletion syndromeHP:0040281 - Very frequent39
HP:0007370HP:0002079Hypoplasia of the corpus callosum1HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0007370HP:0002079Hypoplasia of the corpus callosum1HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0007370HP:0001274Agenesis of corpus callosum1HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0007370HP:0002079Hypoplasia of the corpus callosum1HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0007370HP:0001274Agenesis of corpus callosum1HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome.6
HP:0007370HP:0001274Agenesis of corpus callosum1HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent345
HP:0007370HP:0002079Hypoplasia of the corpus callosum1HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII.39
HP:0007370HP:0002079Hypoplasia of the corpus callosum1HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0007370HP:0001274Agenesis of corpus callosum1HYLS1 CL E G H21984426558ORPHA:2189HydrolethalusHP:0040281 - Very frequent31
HP:0007370HP:0001274Agenesis of corpus callosum1HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 131
HP:0007370HP:0002079Hypoplasia of the corpus callosum1IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 74HP:0040284 - Very rare16
HP:0007370HP:0002079Hypoplasia of the corpus callosum1IBA57 CL E G H20020527302OMIM:615330Multiple mitochondrial dysfunctions syndrome 3.16
HP:0007370HP:0002079Hypoplasia of the corpus callosum1IER3IP1 CL E G H5112418550OMIM:614231Microcephaly, epilepsy, and diabetes syndrome.6
HP:0007370HP:0002079Hypoplasia of the corpus callosum1IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent28
HP:0007370HP:0002079Hypoplasia of the corpus callosum1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0007370HP:0002079Hypoplasia of the corpus callosum1IFT52 CL E G H5109815901OMIM:617102Short-Rib thoracic dysplasia 16 with or without polydactyly.4
HP:0007370HP:0001274Agenesis of corpus callosum1IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040283 - Occasional65
HP:0007370HP:0001274Agenesis of corpus callosum1IGBP1 CL E G H34765461ORPHA:52055Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndromeHP:0040281 - Very frequent5
HP:0007370HP:0001274Agenesis of corpus callosum1IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0007370HP:0002079Hypoplasia of the corpus callosum1IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0007370HP:0001274Agenesis of corpus callosum1INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional111
HP:0007370HP:0002079Hypoplasia of the corpus callosum1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0007370HP:0001274Agenesis of corpus callosum1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0007370HP:0002079Hypoplasia of the corpus callosum1KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome.283
HP:0007370HP:0001274Agenesis of corpus callosum1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0007370HP:0002079Hypoplasia of the corpus callosum1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0007370HP:0001274Agenesis of corpus callosum1KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0007370HP:0001274Agenesis of corpus callosum1KAT6B CL E G H2352217582ORPHA:85201Genitopatellar syndromeHP:0040282 - Frequent141
HP:0007370HP:0001274Agenesis of corpus callosum1KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome.141
HP:0007370HP:0002079Hypoplasia of the corpus callosum1KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0007370HP:0001274Agenesis of corpus callosum1KATNB1 CL E G H103006217OMIM:616212Lissencephaly 6, with microcephaly10
HP:0007370HP:0002079Hypoplasia of the corpus callosum1KATNB1 CL E G H103006217OMIM:616212Lissencephaly 6, with microcephaly.10
HP:0007370HP:0001274Agenesis of corpus callosum1KATNB1 CL E G H103006217ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040283 - Occasional10
HP:0007370HP:0002079Hypoplasia of the corpus callosum1KATNB1 CL E G H103006217ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040283 - Occasional10
HP:0007370HP:0002079Hypoplasia of the corpus callosum1KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional145
HP:0007370HP:0001274Agenesis of corpus callosum1KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent1
HP:0007370HP:0002079Hypoplasia of the corpus callosum1KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndromeHP:0040284 - Very rare
HP:0007370HP:0002079Hypoplasia of the corpus callosum1KCNQ2 CL E G H37856296OMIM:613720Epileptic encephalopathy, early infantile, 7HP:0040283 - Occasional528
HP:0007370HP:0002079Hypoplasia of the corpus callosum1KCNQ2 CL E G H37856296ORPHA:439218KCNQ2-related epileptic encephalopathyHP:0040283 - Occasional528
HP:0007370HP:0002079Hypoplasia of the corpus callosum1KCNT1 CL E G H5758218865OMIM:614959Epileptic encephalopathy, early infantile, 14.321
HP:0007370HP:0002079Hypoplasia of the corpus callosum1KCNT2 CL E G H34345018866OMIM:617771Epileptic encephalopathy, early infantile, 57.1
HP:0007370HP:0002079Hypoplasia of the corpus callosum1KCTD7 CL E G H15488121957OMIM:611726Epilepsy, progressive myoclonic 3, with or without intracellular inclusions106
HP:0007370HP:0002079Hypoplasia of the corpus callosum1KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0007370HP:0002079Hypoplasia of the corpus callosum1KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040283 - Occasional3
HP:0007370HP:0001274Agenesis of corpus callosum1KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0007370HP:0001274Agenesis of corpus callosum1KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 652
HP:0007370HP:0002079Hypoplasia of the corpus callosum1KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 65.2
HP:0007370HP:0001274Agenesis of corpus callosum1KIAA0753 CL E G H985129110OMIM:617127Orofaciodigital syndrome XV.4
HP:0007370HP:0002079Hypoplasia of the corpus callosum1KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0007370HP:0001274Agenesis of corpus callosum1KIDINS220 CL E G H5749829508OMIM:617296SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO4
HP:0007370HP:0002079Hypoplasia of the corpus callosum1KIDINS220 CL E G H5749829508ORPHA:521390Spastic paraplegia-intellectual disability-nystagmus-obesity syndromeHP:0040282 - Frequent4
HP:0007370HP:0001274Agenesis of corpus callosum1KIDINS220 CL E G H5749829508OMIM:619501VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG4
HP:0007370HP:0001274Agenesis of corpus callosum1KIF14 CL E G H992819181ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent9
HP:0007370HP:0001274Agenesis of corpus callosum1KIF14 CL E G H992819181OMIM:616258Meckel syndrome 12.9
HP:0007370HP:0001274Agenesis of corpus callosum1KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0007370HP:0002079Hypoplasia of the corpus callosum1KIF2A CL E G H37966318OMIM:615411Cortical dysplasia, complex, with other brain malformations 3.15
HP:0007370HP:0002079Hypoplasia of the corpus callosum1KIF5C CL E G H38006325OMIM:615282CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM218
HP:0007370HP:0001274Agenesis of corpus callosum1KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome.167
HP:0007370HP:0002079Hypoplasia of the corpus callosum1KIF7 CL E G H37465430497OMIM:607131Al-Gazali-Bakalinova syndrome167
HP:0007370HP:0001274Agenesis of corpus callosum1KIF7 CL E G H37465430497OMIM:607131Al-Gazali-Bakalinova syndrome.167
HP:0007370HP:0001274Agenesis of corpus callosum1KIF7 CL E G H37465430497ORPHA:2189HydrolethalusHP:0040281 - Very frequent167
HP:0007370HP:0001274Agenesis of corpus callosum1KIF7 CL E G H37465430497OMIM:614120Hydrolethalus syndrome 2.167
HP:0007370HP:0002079Hypoplasia of the corpus callosum1KIF7 CL E G H37465430497ORPHA:166024Multiple epiphyseal dysplasia, Al-Gazali typeHP:0040282 - Frequent167
HP:0007370HP:0001274Agenesis of corpus callosum1KIF7 CL E G H37465430497ORPHA:166024Multiple epiphyseal dysplasia, Al-Gazali typeHP:0040282 - Frequent167
HP:0007370HP:0002079Hypoplasia of the corpus callosum1KIFBP CL E G H2612823419ORPHA:66629Goldberg-Shprintzen megacolon syndromeHP:0040283 - Occasional
HP:0007370HP:0002079Hypoplasia of the corpus callosum1KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome.
HP:0007370HP:0002079Hypoplasia of the corpus callosum1KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional99
HP:0007370HP:0001274Agenesis of corpus callosum1KNL1 CL E G H5708224054ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent112
HP:0007370HP:0001274Agenesis of corpus callosum1KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent196
HP:0007370HP:0001274Agenesis of corpus callosum1KRAS CL E G H38456407ORPHA:3339Toriello-Lacassie-Droste syndromeHP:0040281 - Very frequent196
HP:0007370HP:0001274Agenesis of corpus callosum1L1CAM CL E G H38976470OMIM:304100Corpus callosum, partial agenesis of, X-linked134
HP:0007370HP:0001274Agenesis of corpus callosum1L1CAM CL E G H38976470OMIM:307000Hydrocephalus due to congenital stenosis of aqueduct of sylvius.134
HP:0007370HP:0001274Agenesis of corpus callosum1L1CAM CL E G H38976470ORPHA:2182Hydrocephalus with stenosis of the aqueduct of SylviusHP:0040283 - Occasional134
HP:0007370HP:0001274Agenesis of corpus callosum1L1CAM CL E G H38976470ORPHA:2466MASA syndromeHP:0040283 - Occasional134
HP:0007370HP:0001274Agenesis of corpus callosum1L1CAM CL E G H38976470OMIM:303350MASA syndrome.134
HP:0007370HP:0002079Hypoplasia of the corpus callosum1LAMB1 CL E G H39126486OMIM:615191Lissencephaly 571
HP:0007370HP:0002079Hypoplasia of the corpus callosum1LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional136
HP:0007370HP:0002079Hypoplasia of the corpus callosum1LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.136
HP:0007370HP:0001274Agenesis of corpus callosum1LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.136
HP:0007370HP:0001274Agenesis of corpus callosum1LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent136
HP:0007370HP:0001274Agenesis of corpus callosum1LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0007370HP:0001274Agenesis of corpus callosum1LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional2
HP:0007370HP:0001274Agenesis of corpus callosum1LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional51
HP:0007370HP:0001274Agenesis of corpus callosum1LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare43
HP:0007370HP:0001274Agenesis of corpus callosum1LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional43
HP:0007370HP:0002079Hypoplasia of the corpus callosum1LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0007370HP:0002079Hypoplasia of the corpus callosum1LNPK CL E G H8085621610OMIM:618090Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum.
HP:0007370HP:0002079Hypoplasia of the corpus callosum1LONP1 CL E G H93619479OMIM:600373CODAS syndrome.8
HP:0007370HP:0002079Hypoplasia of the corpus callosum1LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional8
HP:0007370HP:0001274Agenesis of corpus callosum1LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional8
HP:0007370HP:0001274Agenesis of corpus callosum1LRP2 CL E G H40366694OMIM:222448Donnai-Barrow syndrome289
HP:0007370HP:0001274Agenesis of corpus callosum1LRRC32 CL E G H26154161OMIM:619074CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0007370HP:0002079Hypoplasia of the corpus callosum1LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0007370HP:0002079Hypoplasia of the corpus callosum1LSS CL E G H40476708OMIM:618840ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR42
HP:0007370HP:0001274Agenesis of corpus callosum1LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0007370HP:0002079Hypoplasia of the corpus callosum1MACF1 CL E G H2349913664OMIM:618325Lissencephaly 9 with complex brainstem malformation.2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040283 - Occasional21
HP:0007370HP:0001274Agenesis of corpus callosum1MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0007370HP:0002079Hypoplasia of the corpus callosum1MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities.
HP:0007370HP:0002079Hypoplasia of the corpus callosum1MAPKAPK5 CL E G H85506889OMIM:619869
HP:0007370HP:0002079Hypoplasia of the corpus callosum1MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 2.4
HP:0007370HP:0001274Agenesis of corpus callosum1MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040283 - Occasional22
HP:0007370HP:0002079Hypoplasia of the corpus callosum1MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome.22
HP:0007370HP:0001274Agenesis of corpus callosum1MCM7 CL E G H41766950ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent
HP:0007370HP:0001274Agenesis of corpus callosum1MCPH1 CL E G H796486954ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent155
HP:0007370HP:0001274Agenesis of corpus callosum1MDH1 CL E G H41906970OMIM:618959DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0007370HP:0001274Agenesis of corpus callosum1MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome.228
HP:0007370HP:0001274Agenesis of corpus callosum1MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome228
HP:0007370HP:0002079Hypoplasia of the corpus callosum1MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0007370HP:0001274Agenesis of corpus callosum1MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0007370HP:0002079Hypoplasia of the corpus callosum1MED25 CL E G H8185728845OMIM:616449Basel-Vanagaite-Smirin-Yosef syndrome.43
HP:0007370HP:0002079Hypoplasia of the corpus callosum1MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0007370HP:0001274Agenesis of corpus callosum1MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0007370HP:0002079Hypoplasia of the corpus callosum1MEF2C CL E G H42086996ORPHA:2283845q14.3 microdeletion syndromeHP:0040282 - Frequent132
HP:0007370HP:0001274Agenesis of corpus callosum1METTL5 CL E G H2908125006ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent
HP:0007370HP:0001274Agenesis of corpus callosum1MFSD2A CL E G H8487925897ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent5
HP:0007370HP:0002079Hypoplasia of the corpus callosum1MFSD2A CL E G H8487925897OMIM:616486Microcephaly 15, primary, autosomal recessive.5
HP:0007370HP:0002079Hypoplasia of the corpus callosum1MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040283 - Occasional57
HP:0007370HP:0001274Agenesis of corpus callosum1MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040283 - Occasional57
HP:0007370HP:0001274Agenesis of corpus callosum1MID1 CL E G H42817095OMIM:300000Opitz gbbb syndrome, type I.57
HP:0007370HP:0002079Hypoplasia of the corpus callosum1MINPP1 CL E G H95627102ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040282 - Frequent3
HP:0007370HP:0001274Agenesis of corpus callosum1MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional127
HP:0007370HP:0001274Agenesis of corpus callosum1MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1.127
HP:0007370HP:0001274Agenesis of corpus callosum1MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0007370HP:0001274Agenesis of corpus callosum1MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0007370HP:0002079Hypoplasia of the corpus callosum1MOCS1 CL E G H43377190OMIM:252150Molybdenum cofactor deficiency, complementation group A.96
HP:0007370HP:0002079Hypoplasia of the corpus callosum1MOCS2 CL E G H43387193OMIM:252160Molybdenum cofactor deficiency, complementation group B.26
HP:0007370HP:0002079Hypoplasia of the corpus callosum1MOGS CL E G H784124862OMIM:606056Congenital disorder of glycosylation, type IIB.37
HP:0007370HP:0002079Hypoplasia of the corpus callosum1MOGS CL E G H784124862ORPHA:79330MOGS-CDGHP:0040283 - Occasional37
HP:0007370HP:0001274Agenesis of corpus callosum1MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0007370HP:0001274Agenesis of corpus callosum1MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive9
HP:0007370HP:0001274Agenesis of corpus callosum1MRPS16 CL E G H5102114048OMIM:610498Combined oxidative phosphorylation deficiency 2.60
HP:0007370HP:0002079Hypoplasia of the corpus callosum1MRPS22 CL E G H5694514508OMIM:611719Combined oxidative phosphorylation deficiency 5.25
HP:0007370HP:0001274Agenesis of corpus callosum1MRPS25 CL E G H6443214511OMIM:619025COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0007370HP:0001274Agenesis of corpus callosum1MTHFR CL E G H45247436ORPHA:563612Isolated exencephalyHP:0040282 - Frequent183
HP:0007370HP:0002079Hypoplasia of the corpus callosum1MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55HP:0040282 - Frequent
HP:0007370HP:0002079Hypoplasia of the corpus callosum1MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040283 - Occasional
HP:0007370HP:0002079Hypoplasia of the corpus callosum1MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessiveHP:0040283 - Occasional
HP:0007370HP:0002079Hypoplasia of the corpus callosum1NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiencyHP:0040282 - Frequent14
HP:0007370HP:0002079Hypoplasia of the corpus callosum1NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040283 - Occasional48
HP:0007370HP:0002079Hypoplasia of the corpus callosum1NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve typeHP:0040283 - Occasional8
HP:0007370HP:0002079Hypoplasia of the corpus callosum1NARS1 CL E G H46777643OMIM:619091NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0007370HP:0002079Hypoplasia of the corpus callosum1NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 24.34
HP:0007370HP:0001274Agenesis of corpus callosum1NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 24.34
HP:0007370HP:0001274Agenesis of corpus callosum1NCAPD3 CL E G H2331028952ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent1
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0001274Agenesis of corpus callosum1ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0001274Agenesis of corpus callosum1ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0001274Agenesis of corpus callosum1ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0001274Agenesis of corpus callosum1ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0001274Agenesis of corpus callosum1NDE1 CL E G H5482017619OMIM:614019Lissencephaly 4.96
HP:0007370HP:0001274Agenesis of corpus callosum1NDE1 CL E G H5482017619ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040283 - Occasional96
HP:0007370HP:0002079Hypoplasia of the corpus callosum1NDE1 CL E G H5482017619ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040283 - Occasional96
HP:0007370HP:0001274Agenesis of corpus callosum1NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY.96
HP:0007370HP:0002079Hypoplasia of the corpus callosum1NDUFA2 CL E G H46957685OMIM:618235Mitochondrial complex I deficiency, nuclear type 13.19
HP:0007370HP:0001274Agenesis of corpus callosum1NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0007370HP:0001274Agenesis of corpus callosum1NDUFB11 CL E G H5453920372OMIM:300952Linear skin defects with multiple congenital anomalies 3.3
HP:0007370HP:0001274Agenesis of corpus callosum1NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional3
HP:0007370HP:0001274Agenesis of corpus callosum1NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 7.3
HP:0007370HP:0002079Hypoplasia of the corpus callosum1NEDD4L CL E G H233277728OMIM:617201Periventricular nodular heterotopia 7HP:0040283 - Occasional30
HP:0007370HP:0001274Agenesis of corpus callosum1NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional
HP:0007370HP:0002079Hypoplasia of the corpus callosum1NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional
HP:0007370HP:0002079Hypoplasia of the corpus callosum1NEUROD2 CL E G H47617763OMIM:618374Epileptic encephalopathy, early infantile, 72.
HP:0007370HP:0002079Hypoplasia of the corpus callosum1NEXMIF CL E G H34053329433ORPHA:85277X-linked intellectual disability, Cantagrel typeHP:0040282 - Frequent52
HP:0007370HP:0002079Hypoplasia of the corpus callosum1NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040283 - Occasional1952
HP:0007370HP:0001274Agenesis of corpus callosum1NFIA CL E G H47747784OMIM:613735Brain malformations with or without urinary tract defects.12
HP:0007370HP:0002079Hypoplasia of the corpus callosum1NFIA CL E G H47747784OMIM:613735Brain malformations with or without urinary tract defects.12
HP:0007370HP:0002079Hypoplasia of the corpus callosum1NFIX CL E G H47847788ORPHA:420179Malan overgrowth syndromeHP:0040282 - Frequent40
HP:0007370HP:0002079Hypoplasia of the corpus callosum1NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0007370HP:0001274Agenesis of corpus callosum1NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0007370HP:0002079Hypoplasia of the corpus callosum1NFIX CL E G H47847788OMIM:614753Sotos syndrome 240
HP:0007370HP:0002079Hypoplasia of the corpus callosum1NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis.
HP:0007370HP:0001274Agenesis of corpus callosum1NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040284 - Very rare51
HP:0007370HP:0002079Hypoplasia of the corpus callosum1NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophyHP:0040284 - Very rare2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0007370HP:0001274Agenesis of corpus callosum1NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional45
HP:0007370HP:0001274Agenesis of corpus callosum1NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional45
HP:0007370HP:0001274Agenesis of corpus callosum1NODAL CL E G H48387865ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional45
HP:0007370HP:0001274Agenesis of corpus callosum1NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional45
HP:0007370HP:0001274Agenesis of corpus callosum1NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional45
HP:0007370HP:0002079Hypoplasia of the corpus callosum1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0007370HP:0002079Hypoplasia of the corpus callosum1NOVA2 CL E G H48587887OMIM:618859Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0007370HP:0001274Agenesis of corpus callosum1NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional85
HP:0007370HP:0002079Hypoplasia of the corpus callosum1NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndromeHP:0040282 - Frequent37
HP:0007370HP:0002079Hypoplasia of the corpus callosum1NRROS CL E G H37538724613OMIM:618875SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC1
HP:0007370HP:0001274Agenesis of corpus callosum1NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0007370HP:0001274Agenesis of corpus callosum1NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0007370HP:0001274Agenesis of corpus callosum1NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional118
HP:0007370HP:0002079Hypoplasia of the corpus callosum1NT5C2 CL E G H229788022OMIM:613162Spastic paraplegia 45, autosomal recessive.15
HP:0007370HP:0001274Agenesis of corpus callosum1NTN1 CL E G H94238029ORPHA:238722Familial congenital mirror movementsHP:0040283 - Occasional
HP:0007370HP:0002079Hypoplasia of the corpus callosum1NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0007370HP:0002079Hypoplasia of the corpus callosum1OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent121
HP:0007370HP:0001274Agenesis of corpus callosum1OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.201
HP:0007370HP:0001274Agenesis of corpus callosum1OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040283 - Occasional201
HP:0007370HP:0002079Hypoplasia of the corpus callosum1OGDHL CL E G H5575325590OMIM:619701YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN3
HP:0007370HP:0002079Hypoplasia of the corpus callosum1OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3.
HP:0007370HP:0001274Agenesis of corpus callosum1OSTM1 CL E G H2896221652ORPHA:85179Infantile osteopetrosis with neuroaxonal dysplasiaHP:0040282 - Frequent73
HP:0007370HP:0001274Agenesis of corpus callosum1OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0007370HP:0002079Hypoplasia of the corpus callosum1OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0007370HP:0002079Hypoplasia of the corpus callosum1OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0007370HP:0001274Agenesis of corpus callosum1OTX2 CL E G H50158522ORPHA:990Agnathia-holoprosencephaly-situs inversus syndromeHP:0040281 - Very frequent41
HP:0007370HP:0001274Agenesis of corpus callosum1OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare41
HP:0007370HP:0001274Agenesis of corpus callosum1OTX2 CL E G H50158522ORPHA:3157Septo-optic dysplasia spectrumHP:0040282 - Frequent41
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PAFAH1B1 CL E G H50488574ORPHA:21738517p13.3 microduplication syndromeHP:0040283 - Occasional231
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PAFAH1B1 CL E G H50488574ORPHA:95232Lissencephaly due to LIS1 mutationHP:0040282 - Frequent231
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PAFAH1B1 CL E G H50488574ORPHA:531Miller-Dieker syndromeHP:0040283 - Occasional231
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PAH CL E G H50538582ORPHA:2209Maternal phenylketonuriaHP:0040283 - Occasional641
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PARS2 CL E G H2597330563OMIM:618437Epileptic encephalopathy, early infantile, 7514
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PAX6 CL E G H50808620OMIM:106210Aniridia.194
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PCLO CL E G H2744513406OMIM:608027Pontocerebellar hypoplasia, type 3.6
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type IIHP:0040283 - Occasional531
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional88
HP:0007370HP:0001274Agenesis of corpus callosum1PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional88
HP:0007370HP:0001274Agenesis of corpus callosum1PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency.88
HP:0007370HP:0001274Agenesis of corpus callosum1PDHB CL E G H51628808ORPHA:255138Pyruvate dehydrogenase E1-beta deficiencyHP:0040282 - Frequent37
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PDHB CL E G H51628808ORPHA:255138Pyruvate dehydrogenase E1-beta deficiencyHP:0040283 - Occasional37
HP:0007370HP:0001274Agenesis of corpus callosum1PDHB CL E G H51628808OMIM:614111PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD37
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PDHX CL E G H805021350ORPHA:255182Pyruvate dehydrogenase E3-binding protein deficiencyHP:0040283 - Occasional98
HP:0007370HP:0001274Agenesis of corpus callosum1PDHX CL E G H805021350OMIM:245349Pyruvate dehydrogenase e3-binding protein deficiency98
HP:0007370HP:0001274Agenesis of corpus callosum1PDHX CL E G H805021350ORPHA:255182Pyruvate dehydrogenase E3-binding protein deficiencyHP:0040283 - Occasional98
HP:0007370HP:0001274Agenesis of corpus callosum1PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0007370HP:0001274Agenesis of corpus callosum1PDYN CL E G H51738820OMIM:610245Spinocerebellar ataxia 23HP:0040283 - Occasional52
HP:0007370HP:0001274Agenesis of corpus callosum1PGAP1 CL E G H8005525712ORPHA:401820Autosomal recessive spastic paraplegia type 67HP:0040282 - Frequent20
HP:0007370HP:0001274Agenesis of corpus callosum1PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0007370HP:0001274Agenesis of corpus callosum1PHC1 CL E G H19113182ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent16
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PHGDH CL E G H262278923ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile formHP:0040283 - Occasional37
HP:0007370HP:0001274Agenesis of corpus callosum1PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome.37
HP:0007370HP:0001274Agenesis of corpus callosum1PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndromeHP:0040283 - Occasional77
HP:0007370HP:0001274Agenesis of corpus callosum1PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome.77
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 2.46
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PIGG CL E G H5487225985ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndromeHP:0040282 - Frequent7
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PIGG CL E G H5487225985OMIM:616917Mental retardation, autosomal recessive 537
HP:0007370HP:0001274Agenesis of corpus callosum1PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional7
HP:0007370HP:0001274Agenesis of corpus callosum1PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040282 - Frequent37
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PIGP CL E G H512273046OMIM:617599Epileptic encephalopathy, early infantile, 55.2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PIK3R2 CL E G H52968980OMIM:603387Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome.12
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PITX1 CL E G H53079004OMIM:119800CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF8
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0007370HP:0001274Agenesis of corpus callosum1PLCH1 CL E G H2300729185OMIM:619895
HP:0007370HP:0001274Agenesis of corpus callosum1PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PLPBP CL E G H112129457ORPHA:3006Pyridoxine-dependent epilepsyHP:0040282 - Frequent6
HP:0007370HP:0001274Agenesis of corpus callosum1PLXNA1 CL E G H53619099OMIM:619955
HP:0007370HP:0001274Agenesis of corpus callosum1PMS2 CL E G H53959122OMIM:619101MISMATCH REPAIR CANCER SYNDROME 4; MMRCS41121
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional244
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PNKP CL E G H112849154OMIM:613402Microcephaly, seizures, and developmental delay244
HP:0007370HP:0002079Hypoplasia of the corpus callosum1POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome.35
HP:0007370HP:0002079Hypoplasia of the corpus callosum1POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040284 - Very rare35
HP:0007370HP:0002079Hypoplasia of the corpus callosum1POLG2 CL E G H112329180OMIM:618528Mitochondrial DNA depletion syndrome 16 (hepatic type).45
HP:0007370HP:0002079Hypoplasia of the corpus callosum1POLR1C CL E G H953320194OMIM:616494Leukodystrophy, hypomyelinating, 11.38
HP:0007370HP:0002079Hypoplasia of the corpus callosum1POLR2A CL E G H54309187OMIM:618603NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0007370HP:0001274Agenesis of corpus callosum1POLR2A CL E G H54309187OMIM:618603NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0007370HP:0002079Hypoplasia of the corpus callosum1POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.138
HP:0007370HP:0002079Hypoplasia of the corpus callosum1POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040282 - Frequent138
HP:0007370HP:0001274Agenesis of corpus callosum1POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0007370HP:0001274Agenesis of corpus callosum1POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040283 - Occasional138
HP:0007370HP:0002079Hypoplasia of the corpus callosum1POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.67
HP:0007370HP:0002079Hypoplasia of the corpus callosum1POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism.67
HP:0007370HP:0002079Hypoplasia of the corpus callosum1POLR3GL CL E G H8426528466OMIM:619234SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0007370HP:0001274Agenesis of corpus callosum1POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional180
HP:0007370HP:0001274Agenesis of corpus callosum1POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent180
HP:0007370HP:0001274Agenesis of corpus callosum1POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent33
HP:0007370HP:0001274Agenesis of corpus callosum1POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional18
HP:0007370HP:0001274Agenesis of corpus callosum1POMK CL E G H8419726267OMIM:615249MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12HP:0040283 - Occasional18
HP:0007370HP:0001274Agenesis of corpus callosum1POMK CL E G H8419726267ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent18
HP:0007370HP:0001274Agenesis of corpus callosum1POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional213
HP:0007370HP:0002079Hypoplasia of the corpus callosum1POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional213
HP:0007370HP:0002079Hypoplasia of the corpus callosum1POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.213
HP:0007370HP:0001274Agenesis of corpus callosum1POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.213
HP:0007370HP:0002079Hypoplasia of the corpus callosum1POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1.213
HP:0007370HP:0001274Agenesis of corpus callosum1POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent213
HP:0007370HP:0001274Agenesis of corpus callosum1POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional221
HP:0007370HP:0002079Hypoplasia of the corpus callosum1POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional221
HP:0007370HP:0001274Agenesis of corpus callosum1POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.221
HP:0007370HP:0002079Hypoplasia of the corpus callosum1POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.221
HP:0007370HP:0001274Agenesis of corpus callosum1POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2221
HP:0007370HP:0002079Hypoplasia of the corpus callosum1POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2.221
HP:0007370HP:0001274Agenesis of corpus callosum1POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent221
HP:0007370HP:0001274Agenesis of corpus callosum1PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0007370HP:0001274Agenesis of corpus callosum1POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare36
HP:0007370HP:0001274Agenesis of corpus callosum1POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional36
HP:0007370HP:0002079Hypoplasia of the corpus callosum1POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PPFIBP1 CL E G H84969249OMIM:620024
HP:0007370HP:0001274Agenesis of corpus callosum1PPIL1 CL E G H516459260OMIM:619301PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0007370HP:0001274Agenesis of corpus callosum1PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 2HP:0040283 - Occasional2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PPP2CA CL E G H55159299OMIM:618354Neurodevelopmental disorder and language delay with or without structural brain abnormalities.2
HP:0007370HP:0001274Agenesis of corpus callosum1PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 3613
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 36.13
HP:0007370HP:0001274Agenesis of corpus callosum1PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndromeHP:0040282 - Frequent13
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndromeHP:0040282 - Frequent13
HP:0007370HP:0001274Agenesis of corpus callosum1PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy.
HP:0007370HP:0001274Agenesis of corpus callosum1PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent148
HP:0007370HP:0001274Agenesis of corpus callosum1PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PRKDC CL E G H55919413OMIM:615966Immunodeficiency 26 with or without neurologic abnormalitiesHP:0040283 - Occasional42
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040283 - Occasional6
HP:0007370HP:0001274Agenesis of corpus callosum1PROKR2 CL E G H12867415836ORPHA:3157Septo-optic dysplasia spectrumHP:0040282 - Frequent34
HP:0007370HP:0001274Agenesis of corpus callosum1PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare54
HP:0007370HP:0001274Agenesis of corpus callosum1PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional54
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeHP:0040282 - Frequent49
HP:0007370HP:0001274Agenesis of corpus callosum1PRRX1 CL E G H53969142ORPHA:990Agnathia-holoprosencephaly-situs inversus syndromeHP:0040281 - Very frequent4
HP:0007370HP:0001274Agenesis of corpus callosum1PRRX1 CL E G H53969142OMIM:202650Agnathia-Otocephaly complex.4
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies.8
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PSAP CL E G H56609498OMIM:611721Combined saposin deficiency.81
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile formHP:0040282 - Frequent27
HP:0007370HP:0001274Agenesis of corpus callosum1PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional665
HP:0007370HP:0001274Agenesis of corpus callosum1PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0007370HP:0001274Agenesis of corpus callosum1PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional665
HP:0007370HP:0001274Agenesis of corpus callosum1PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional665
HP:0007370HP:0001274Agenesis of corpus callosum1PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional665
HP:0007370HP:0001274Agenesis of corpus callosum1PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional665
HP:0007370HP:0001274Agenesis of corpus callosum1PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040283 - Occasional6
HP:0007370HP:0001274Agenesis of corpus callosum1PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism.6
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PTPN23 CL E G H2593014406OMIM:618890NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS3
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0007370HP:0001274Agenesis of corpus callosum1PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeHP:0040283 - Occasional1
HP:0007370HP:0001274Agenesis of corpus callosum1PYCR1 CL E G H58319721OMIM:612940Cutis laxa, autosomal recessive, type IIB.53
HP:0007370HP:0001274Agenesis of corpus callosum1PYCR2 CL E G H2992030262ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent11
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PYCR2 CL E G H2992030262OMIM:616420Leukodystrophy, hypomyelinating, 10.11
HP:0007370HP:0001274Agenesis of corpus callosum1PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040283 - Occasional11
HP:0007370HP:0002079Hypoplasia of the corpus callosum1PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040282 - Frequent11
HP:0007370HP:0002079Hypoplasia of the corpus callosum1QARS1 CL E G H58599751OMIM:615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy.
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 3.85
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RAB3GAP1 CL E G H2293017063OMIM:619420MARTSOLF SYNDROME 2; MARTS290
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 1.90
HP:0007370HP:0001274Agenesis of corpus callosum1RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 1.90
HP:0007370HP:0001274Agenesis of corpus callosum1RAB3GAP2 CL E G H2578217168ORPHA:401830Autosomal recessive spastic paraplegia type 69HP:0040282 - Frequent135
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2.135
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromHP:0040283 - Occasional3
HP:0007370HP:0001274Agenesis of corpus callosum1RAC3 CL E G H58819803OMIM:618577NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF1
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RAC3 CL E G H58819803OMIM:618577NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF1
HP:0007370HP:0001274Agenesis of corpus callosum1RAD51 CL E G H58889817ORPHA:238722Familial congenital mirror movementsHP:0040283 - Occasional9
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndromeHP:0040283 - Occasional150
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RARS1 CL E G H59179870OMIM:616140Leukodystrophy, hypomyelinating, 9.
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RB1 CL E G H59259884ORPHA:1587Monosomy 13q14HP:0040283 - Occasional365
HP:0007370HP:0001274Agenesis of corpus callosum1RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome.445
HP:0007370HP:0001274Agenesis of corpus callosum1RELN CL E G H56499957ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040283 - Occasional334
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RELN CL E G H56499957ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040283 - Occasional334
HP:0007370HP:0002079Hypoplasia of the corpus callosum1REPS1 CL E G H8502115578OMIM:617916Neurodegeneration with brain iron accumulation 7.
HP:0007370HP:0001274Agenesis of corpus callosum1RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent16
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040283 - Occasional16
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RHOBTB2 CL E G H2322118756OMIM:618004Epileptic encephalopathy, early infantile, 64.1
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 11.26
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent33
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent34
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent60
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RNASEH2C CL E G H8415324116OMIM:610329Aicardi-Goutieres syndrome 3.60
HP:0007370HP:0001274Agenesis of corpus callosum1RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RNF13 CL E G H1134210057OMIM:618379DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0007370HP:0001274Agenesis of corpus callosum1RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0007370HP:0001274Agenesis of corpus callosum1RPGRIP1L CL E G H2332229168ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional167
HP:0007370HP:0001274Agenesis of corpus callosum1RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040283 - Occasional2
HP:0007370HP:0001274Agenesis of corpus callosum1RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0007370HP:0001274Agenesis of corpus callosum1RTTN CL E G H2591418654OMIM:614833Microcephaly, short stature, and polymicrogyria with or without seizures113
HP:0007370HP:0002079Hypoplasia of the corpus callosum1RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61HP:0040284 - Very rare
HP:0007370HP:0001274Agenesis of corpus callosum1RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-SaguenayHP:0040282 - Frequent309
HP:0007370HP:0001274Agenesis of corpus callosum1SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional124
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent55
HP:0007370HP:0001274Agenesis of corpus callosum1SASS6 CL E G H16378625403ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent4
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional126
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional427
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SCN3A CL E G H632810590OMIM:617938EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE6270
HP:0007370HP:0001274Agenesis of corpus callosum1SCYL2 CL E G H5568119286OMIM:618766ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0007370HP:0001274Agenesis of corpus callosum1SEC31A CL E G H2287217052OMIM:618651HALPERIN-BIRK SYNDROME; HLBKS
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional66
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SEPSECS CL E G H5109130605OMIM:613811Pontocerebellar hypoplasia, type 2D.66
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040282 - Frequent143
HP:0007370HP:0001274Agenesis of corpus callosum1SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0007370HP:0001274Agenesis of corpus callosum1SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040283 - Occasional53
HP:0007370HP:0001274Agenesis of corpus callosum1SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional67
HP:0007370HP:0001274Agenesis of corpus callosum1SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional67
HP:0007370HP:0001274Agenesis of corpus callosum1SHH CL E G H646910848ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional67
HP:0007370HP:0001274Agenesis of corpus callosum1SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional67
HP:0007370HP:0001274Agenesis of corpus callosum1SHH CL E G H646910848OMIM:269160SCHIZENCEPHALY67
HP:0007370HP:0001274Agenesis of corpus callosum1SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional67
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 1HP:0040283 - Occasional74
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional11
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome.9
HP:0007370HP:0001274Agenesis of corpus callosum1SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional32
HP:0007370HP:0001274Agenesis of corpus callosum1SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 2.32
HP:0007370HP:0001274Agenesis of corpus callosum1SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0007370HP:0001274Agenesis of corpus callosum1SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional32
HP:0007370HP:0001274Agenesis of corpus callosum1SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional32
HP:0007370HP:0001274Agenesis of corpus callosum1SIX3 CL E G H649610889OMIM:269160SCHIZENCEPHALY32
HP:0007370HP:0001274Agenesis of corpus callosum1SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional32
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 3.20
HP:0007370HP:0001274Agenesis of corpus callosum1SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 3.20
HP:0007370HP:0001274Agenesis of corpus callosum1SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent150
HP:0007370HP:0001274Agenesis of corpus callosum1SLC12A2 CL E G H655810911OMIM:619083DELPIRE-MCNEILL SYNDROME; DELMNES2
HP:0007370HP:0001274Agenesis of corpus callosum1SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0007370HP:0001274Agenesis of corpus callosum1SLC12A6 CL E G H999010914ORPHA:1496Corpus callosum agenesis-neuronopathy syndromeHP:0040281 - Very frequent163
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SLC1A2 CL E G H650610940OMIM:617105Epileptic encephalopathy, early infantile, 41.3
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SLC1A4 CL E G H650910942OMIM:616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly.4
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040282 - Frequent4
HP:0007370HP:0001274Agenesis of corpus callosum1SLC25A1 CL E G H657610979OMIM:618197Myasthenic syndrome, congenital, 23, presynaptic28
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SLC25A10 CL E G H146810980OMIM:618972MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0007370HP:0001274Agenesis of corpus callosum1SLC25A19 CL E G H6038614409ORPHA:99742Amish lethal microcephalyHP:0040282 - Frequent36
HP:0007370HP:0001274Agenesis of corpus callosum1SLC25A19 CL E G H6038614409OMIM:607196Microcephaly, Amish type36
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome.
HP:0007370HP:0001274Agenesis of corpus callosum1SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm27
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDGHP:0040283 - Occasional27
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SLC5A6 CL E G H888411041OMIM:618973NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SLC6A9 CL E G H653611056OMIM:617301Glycine encephalopathy with normal serum glycine4
HP:0007370HP:0001274Agenesis of corpus callosum1SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional617
HP:0007370HP:0001274Agenesis of corpus callosum1SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional87
HP:0007370HP:0001274Agenesis of corpus callosum1SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional1
HP:0007370HP:0001274Agenesis of corpus callosum1SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional
HP:0007370HP:0001274Agenesis of corpus callosum1SMARCD1 CL E G H660211106OMIM:618779COFFIN-SIRIS SYNDROME 11; CSS11
HP:0007370HP:0001274Agenesis of corpus callosum1SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional47
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 5.47
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0007370HP:0001274Agenesis of corpus callosum1SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional135
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SMG9 CL E G H5600625763OMIM:616920Heart and brain malformation syndrome.2
HP:0007370HP:0001274Agenesis of corpus callosum1SMO CL E G H660811119ORPHA:1553Curry-Jones syndromeHP:0040282 - Frequent22
HP:0007370HP:0001274Agenesis of corpus callosum1SMO CL E G H660811119OMIM:601707Curry-Jones syndrome.22
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SNIP1 CL E G H7975330587OMIM:614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism.3
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040282 - Frequent12
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0007370HP:0001274Agenesis of corpus callosum1SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional14
HP:0007370HP:0001274Agenesis of corpus callosum1SOX2 CL E G H665711195ORPHA:77298Anophthalmia/microphthalmia-esophageal atresia syndromeHP:0040282 - Frequent33
HP:0007370HP:0001274Agenesis of corpus callosum1SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 3.33
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 3.33
HP:0007370HP:0001274Agenesis of corpus callosum1SOX2 CL E G H665711195ORPHA:3157Septo-optic dysplasia spectrumHP:0040282 - Frequent33
HP:0007370HP:0001274Agenesis of corpus callosum1SOX3 CL E G H665811199ORPHA:3157Septo-optic dysplasia spectrumHP:0040282 - Frequent24
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SOX3 CL E G H665811199ORPHA:67045X-linked intellectual disability with isolated growth hormone deficiencyHP:0040283 - Occasional24
HP:0007370HP:0001274Agenesis of corpus callosum1SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SPATA5 CL E G H16637818119OMIM:616577Epilepsy, hearing loss, and mental retardation syndromeHP:0040283 - Occasional19
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040283 - Occasional19
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SPATA5L1 CL E G H7902928762OMIM:619616NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0007370HP:0001274Agenesis of corpus callosum1SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent4
HP:0007370HP:0001274Agenesis of corpus callosum1SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040281 - Very frequent287
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SPG11 CL E G H8020811226OMIM:616668Charcot-Marie-Tooth disease, axonal, type 2XHP:0040283 - Occasional287
HP:0007370HP:0001274Agenesis of corpus callosum1SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive.287
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive.287
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SPG21 CL E G H5132420373ORPHA:101001Autosomal recessive spastic paraplegia type 21HP:0040282 - Frequent28
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SPTAN1 CL E G H670911273OMIM:613477Epileptic encephalopathy, early infantile, 5.416
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SRPX2 CL E G H2728630668ORPHA:163721Rolandic epilepsy-speech dyspraxia syndromeHP:0040283 - Occasional50
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SSR4 CL E G H674811326OMIM:300934Congenital disorder of glycosylation, type IyHP:0040283 - Occasional12
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SSR4 CL E G H674811326ORPHA:370927SSR4-CDGHP:0040283 - Occasional12
HP:0007370HP:0001274Agenesis of corpus callosum1STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional1
HP:0007370HP:0001274Agenesis of corpus callosum1STAG2 CL E G H1073511355OMIM:301043HOLOPROSENCEPHALY 13, X-LINKED; HPE131
HP:0007370HP:0001274Agenesis of corpus callosum1STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional1
HP:0007370HP:0002079Hypoplasia of the corpus callosum1STAG2 CL E G H1073511355ORPHA:521258Xq25 microduplication syndromeHP:0040282 - Frequent1
HP:0007370HP:0002079Hypoplasia of the corpus callosum1STAMBP CL E G H1061716950OMIM:614261Microcephaly-Capillary malformation syndrome.24
HP:0007370HP:0001274Agenesis of corpus callosum1STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional99
HP:0007370HP:0001274Agenesis of corpus callosum1STIL CL E G H649110879ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent99
HP:0007370HP:0001274Agenesis of corpus callosum1STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional99
HP:0007370HP:0001274Agenesis of corpus callosum1STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional99
HP:0007370HP:0001274Agenesis of corpus callosum1STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional99
HP:0007370HP:0002079Hypoplasia of the corpus callosum1STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4.237
HP:0007370HP:0001274Agenesis of corpus callosum1SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional124
HP:0007370HP:0001274Agenesis of corpus callosum1SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0007370HP:0001274Agenesis of corpus callosum1SUZ12 CL E G H2351217101OMIM:618786IMAGAWA-MATSUMOTO SYNDROME; IMMAS1
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0007370HP:0002079Hypoplasia of the corpus callosum1SYNJ1 CL E G H886711503OMIM:617389Epileptic encephalopathy, early infantile, 53.9
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040281 - Very frequent21
HP:0007370HP:0001274Agenesis of corpus callosum1TAF13 CL E G H688411546ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TAF2 CL E G H687311536OMIM:615599Mental retardation, autosomal recessive 40.7
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TAF2 CL E G H687311536ORPHA:397951Microcephaly-thin corpus callosum-intellectual disability syndromeHP:0040282 - Frequent7
HP:0007370HP:0001274Agenesis of corpus callosum1TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TARS2 CL E G H8022230740OMIM:615918Combined oxidative phosphorylation deficiency 21.28
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11.
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040281 - Very frequent16
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndromeHP:0040282 - Frequent52
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TBCE CL E G H690511582OMIM:617207ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO52
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TBCE CL E G H690511582OMIM:241410Hypoparathyroidism-Retardation-Dysmorphism syndrome.52
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040282 - Frequent13
HP:0007370HP:0001274Agenesis of corpus callosum1TCF12 CL E G H693811623OMIM:615314Craniosynostosis 328
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome.241
HP:0007370HP:0001274Agenesis of corpus callosum1TCTN3 CL E G H2612324519OMIM:614815Joubert syndrome 1831
HP:0007370HP:0001274Agenesis of corpus callosum1TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional1
HP:0007370HP:0001274Agenesis of corpus callosum1TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional1
HP:0007370HP:0001274Agenesis of corpus callosum1TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional1
HP:0007370HP:0001274Agenesis of corpus callosum1TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional1
HP:0007370HP:0001274Agenesis of corpus callosum1TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional1
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TECPR2 CL E G H989519957ORPHA:320385Hereditary sensory and autonomic neuropathy due to TECPR2 mutationHP:0040283 - Occasional39
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TECPR2 CL E G H989519957OMIM:615031Spastic paraplegia 49, autosomal recessive.39
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TGFB1 CL E G H704011766OMIM:618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE13
HP:0007370HP:0001274Agenesis of corpus callosum1TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional32
HP:0007370HP:0001274Agenesis of corpus callosum1TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0007370HP:0001274Agenesis of corpus callosum1TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional32
HP:0007370HP:0001274Agenesis of corpus callosum1TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional32
HP:0007370HP:0001274Agenesis of corpus callosum1TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional32
HP:0007370HP:0001274Agenesis of corpus callosum1THUMPD1 CL E G H5562323807OMIM:619989
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TMCO1 CL E G H5449918188ORPHA:1394Cerebrofaciothoracic dysplasiaHP:0040281 - Very frequent6
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome.6
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16.
HP:0007370HP:0001274Agenesis of corpus callosum1TMEM237 CL E G H6506214432ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional82
HP:0007370HP:0001274Agenesis of corpus callosum1TMEM260 CL E G H5491620185OMIM:617478Structural heart defects and renal anomalies syndrome2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TMTC3 CL E G H16041826899OMIM:617255Lissencephaly 8.5
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TMX2 CL E G H5107530739OMIM:618730NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS2
HP:0007370HP:0001274Agenesis of corpus callosum1TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TOE1 CL E G H11403415954ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040282 - Frequent6
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 7.6
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0007370HP:0001274Agenesis of corpus callosum1TP73 CL E G H716112003OMIM:619466CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TP73 CL E G H716112003OMIM:619466CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0007370HP:0001274Agenesis of corpus callosum1TRAPPC10 CL E G H710911868ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent1
HP:0007370HP:0001274Agenesis of corpus callosum1TRAPPC12 CL E G H5111224284ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndromeHP:0040283 - Occasional2
HP:0007370HP:0001274Agenesis of corpus callosum1TRAPPC12 CL E G H5111224284OMIM:617669Encephalopathy, progressive, early-onset, with brain atrophy and spasticity.2
HP:0007370HP:0001274Agenesis of corpus callosum1TRAPPC14 CL E G H5526225604ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TRAPPC14 CL E G H5526225604OMIM:618351Microcephaly 25, primary, autosomal recessive.
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy.
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndromeHP:0040281 - Very frequent158
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13.158
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TREM2 CL E G H5420917761OMIM:618193POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL231
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent56
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional1
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0001274Agenesis of corpus callosum1TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0001274Agenesis of corpus callosum1TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0001274Agenesis of corpus callosum1TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0001274Agenesis of corpus callosum1TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0001274Agenesis of corpus callosum1TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0001274Agenesis of corpus callosum1TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0001274Agenesis of corpus callosum1TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional3
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional84
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TSEN2 CL E G H8074628422OMIM:612389Pontocerebellar hypoplasia, type 2B.84
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional57
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional102
HP:0007370HP:0001274Agenesis of corpus callosum1TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TUBA1A CL E G H784620766OMIM:611603Lissencephaly 3.106
HP:0007370HP:0001274Agenesis of corpus callosum1TUBA1A CL E G H784620766OMIM:611603Lissencephaly 3.106
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TUBA1A CL E G H784620766ORPHA:171680Lissencephaly due to TUBA1A mutation106
HP:0007370HP:0001274Agenesis of corpus callosum1TUBA1A CL E G H784620766ORPHA:171680Lissencephaly due to TUBA1A mutation106
HP:0007370HP:0001274Agenesis of corpus callosum1TUBA8 CL E G H5180712410ORPHA:250972Polymicrogyria with optic nerve hypoplasiaHP:0040282 - Frequent21
HP:0007370HP:0001274Agenesis of corpus callosum1TUBB CL E G H20306820778OMIM:615771Cortical dysplasia, complex, with other brain malformations 614
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 1HP:0040283 - Occasional14
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TUBB2A CL E G H728012412OMIM:615763Cortical dysplasia, complex, with other brain malformations 5.23
HP:0007370HP:0001274Agenesis of corpus callosum1TUBB2B CL E G H34773330829OMIM:610031Cortical dysplasia, complex, with other brain malformations 7.39
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TUBB2B CL E G H34773330829OMIM:610031Cortical dysplasia, complex, with other brain malformations 7.39
HP:0007370HP:0001274Agenesis of corpus callosum1TUBB2B CL E G H34773330829ORPHA:300573Polymicrogyria due to TUBB2B mutationHP:0040284 - Very rare39
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TUBB2B CL E G H34773330829ORPHA:300573Polymicrogyria due to TUBB2B mutationHP:0040283 - Occasional39
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040282 - Frequent64
HP:0007370HP:0001274Agenesis of corpus callosum1TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation64
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TUBB3 CL E G H1038120772OMIM:614039Cortical dysplasia, complex, with other brain malformations 1.64
HP:0007370HP:0001274Agenesis of corpus callosum1TUBB3 CL E G H1038120772OMIM:614039Cortical dysplasia, complex, with other brain malformations 1.64
HP:0007370HP:0001274Agenesis of corpus callosum1TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvementHP:0040283 - Occasional64
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement64
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TUBGCP2 CL E G H1084418599OMIM:618737PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0007370HP:0002079Hypoplasia of the corpus callosum1TYROBP CL E G H730512449OMIM:221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.22
HP:0007370HP:0002079Hypoplasia of the corpus callosum1UBA5 CL E G H7987623230OMIM:617132Epileptic encephalopathy, early infantile, 44.13
HP:0007370HP:0002079Hypoplasia of the corpus callosum1UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent278
HP:0007370HP:0002079Hypoplasia of the corpus callosum1UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome.13
HP:0007370HP:0001274Agenesis of corpus callosum1UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0007370HP:0002079Hypoplasia of the corpus callosum1UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderHP:0040283 - Occasional1
HP:0007370HP:0002079Hypoplasia of the corpus callosum1UBTF CL E G H734312511OMIM:617672Neurodegeneration, childhood-onset, with brain atrophy.1
HP:0007370HP:0002079Hypoplasia of the corpus callosum1UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0007370HP:0002079Hypoplasia of the corpus callosum1UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 223
HP:0007370HP:0002079Hypoplasia of the corpus callosum1UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040283 - Occasional23
HP:0007370HP:0002079Hypoplasia of the corpus callosum1USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted27
HP:0007370HP:0002079Hypoplasia of the corpus callosum1USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040282 - Frequent27
HP:0007370HP:0001274Agenesis of corpus callosum1VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0007370HP:0002079Hypoplasia of the corpus callosum1VAMP2 CL E G H684412643OMIM:618760NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0007370HP:0001274Agenesis of corpus callosum1VANGL2 CL E G H5721615511ORPHA:563612Isolated exencephalyHP:0040282 - Frequent2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy.
HP:0007370HP:0002079Hypoplasia of the corpus callosum1VARS2 CL E G H5717621642OMIM:615917Combined oxidative phosphorylation deficiency 2056
HP:0007370HP:0001274Agenesis of corpus callosum1VAX1 CL E G H1102312660OMIM:614402Microphthalmia, syndromic 11.5
HP:0007370HP:0002079Hypoplasia of the corpus callosum1VPS11 CL E G H5582314583OMIM:616683Leukodystrophy, hypomyelinating, 121
HP:0007370HP:0002079Hypoplasia of the corpus callosum1VPS11 CL E G H5582314583ORPHA:466934VPS11-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent1
HP:0007370HP:0002079Hypoplasia of the corpus callosum1VPS50 CL E G H5561025956OMIM:619685NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0007370HP:0002079Hypoplasia of the corpus callosum1VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0007370HP:0002079Hypoplasia of the corpus callosum1VPS53 CL E G H5527525608OMIM:615851Pontocerebellar hypoplasia, type 2E26
HP:0007370HP:0002079Hypoplasia of the corpus callosum1VWA3B CL E G H20040328385OMIM:616948Spinocerebellar ataxia, autosomal recessive 221
HP:0007370HP:0002079Hypoplasia of the corpus callosum1WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndromeHP:0040283 - Occasional20
HP:0007370HP:0002079Hypoplasia of the corpus callosum1WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionHP:0040283 - Occasional20
HP:0007370HP:0002079Hypoplasia of the corpus callosum1WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040283 - Occasional8
HP:0007370HP:0002079Hypoplasia of the corpus callosum1WDR26 CL E G H8023221208OMIM:617616Skraban-Deardorff syndrome.8
HP:0007370HP:0001274Agenesis of corpus callosum1WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040283 - Occasional136
HP:0007370HP:0001274Agenesis of corpus callosum1WDR4 CL E G H1078512756OMIM:618346Microcephaly, growth deficiency, seizures, and brain malformations
HP:0007370HP:0002079Hypoplasia of the corpus callosum1WDR45B CL E G H5627025072OMIM:617977Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures.1
HP:0007370HP:0001274Agenesis of corpus callosum1WDR62 CL E G H28440324502ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent224
HP:0007370HP:0002079Hypoplasia of the corpus callosum1WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations.224
HP:0007370HP:0002079Hypoplasia of the corpus callosum1WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 1.14
HP:0007370HP:0002079Hypoplasia of the corpus callosum1WDR81 CL E G H12499726600OMIM:610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2.27
HP:0007370HP:0002079Hypoplasia of the corpus callosum1WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0007370HP:0001274Agenesis of corpus callosum1WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent12
HP:0007370HP:0002079Hypoplasia of the corpus callosum1WT1 CL E G H749012796OMIM:106210Aniridia.177
HP:0007370HP:0002079Hypoplasia of the corpus callosum1WWOX CL E G H5174112799OMIM:616211Epileptic encephalopathy, early infantile, 28HP:0040283 - Occasional149
HP:0007370HP:0001274Agenesis of corpus callosum1YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0007370HP:0002079Hypoplasia of the corpus callosum1YIF1B CL E G H9052230511OMIM:619125KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0007370HP:0002079Hypoplasia of the corpus callosum1YWHAE CL E G H753112851ORPHA:21738517p13.3 microduplication syndromeHP:0040283 - Occasional14
HP:0007370HP:0002079Hypoplasia of the corpus callosum1YWHAE CL E G H753112851ORPHA:531Miller-Dieker syndromeHP:0040283 - Occasional14
HP:0007370HP:0001274Agenesis of corpus callosum1YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0007370HP:0002079Hypoplasia of the corpus callosum1YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0007370HP:0001274Agenesis of corpus callosum1ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 22.16
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome.362
HP:0007370HP:0001274Agenesis of corpus callosum1ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040282 - Frequent362
HP:0007370HP:0001274Agenesis of corpus callosum1ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040282 - Frequent362
HP:0007370HP:0001274Agenesis of corpus callosum1ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040282 - Frequent362
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040282 - Frequent362
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ZFR CL E G H5166317277ORPHA:401840Autosomal recessive spastic paraplegia type 71HP:0040282 - Frequent1
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15HP:0040281 - Very frequent189
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ZFYVE26 CL E G H2350320761OMIM:270700Spastic paraplegia 15, autosomal recessive.189
HP:0007370HP:0001274Agenesis of corpus callosum1ZIC1 CL E G H754512872OMIM:616602Craniosynostosis 6.5
HP:0007370HP:0001274Agenesis of corpus callosum1ZIC1 CL E G H754512872OMIM:618736STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS5
HP:0007370HP:0001274Agenesis of corpus callosum1ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional34
HP:0007370HP:0001274Agenesis of corpus callosum1ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional34
HP:0007370HP:0001274Agenesis of corpus callosum1ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional34
HP:0007370HP:0001274Agenesis of corpus callosum1ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional34
HP:0007370HP:0001274Agenesis of corpus callosum1ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional34
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies.4
HP:0007370HP:0001274Agenesis of corpus callosum1ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies.4
HP:0007370HP:0001274Agenesis of corpus callosum1ZNF335 CL E G H6392515807OMIM:615095Microcephaly 10, primary, autosomal recessive60
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0007370HP:0001274Agenesis of corpus callosum1ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0007370HP:0001274Agenesis of corpus callosum1ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ZNHIT3 CL E G H932612309OMIM:260565Peho syndrome.1
HP:0007370HP:0002079Hypoplasia of the corpus callosum1ZSWIM6 CL E G H5768829316OMIM:603671Acromelic frontonasal dysostosis.5
HP:0007370HP:0001274Agenesis of corpus callosum1ZSWIM6 CL E G H5768829316OMIM:603671Acromelic frontonasal dysostosis.5
HP:0007370HP:0001274Agenesis of corpus callosum1ZSWIM6 CL E G H5768829316ORPHA:1827Acromelic frontonasal dysplasiaHP:0040281 - Very frequent5
HP:0007370HP:0001338Partial agenesis of the corpus callosum2AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0007370HP:0001338Partial agenesis of the corpus callosum2ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0007370HP:0006849Hypodysplasia of the corpus callosum2BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0007370HP:0001338Partial agenesis of the corpus callosum2C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0007370HP:0001338Partial agenesis of the corpus callosum2CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0007370HP:0001338Partial agenesis of the corpus callosum2CDC40 CL E G H5136217350OMIM:619302PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0007370HP:0001338Partial agenesis of the corpus callosum2CDK5RAP2 CL E G H5575518672OMIM:604804Microcephaly 3, primary, autosomal recessive181
HP:0007370HP:0001338Partial agenesis of the corpus callosum2CENPE CL E G H10621856OMIM:616051Microcephaly 13, primary, autosomal recessive.20
HP:0007370HP:0001338Partial agenesis of the corpus callosum2CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0007370HP:0001338Partial agenesis of the corpus callosum2CLCN3 CL E G H11822021OMIM:619517NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA2
HP:0007370HP:0001338Partial agenesis of the corpus callosum2CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7.
HP:0007370HP:0001338Partial agenesis of the corpus callosum2DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS.72
HP:0007370HP:0001338Partial agenesis of the corpus callosum2DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0007370HP:0001338Partial agenesis of the corpus callosum2ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0007370HP:0001338Partial agenesis of the corpus callosum2ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0007370HP:0001338Partial agenesis of the corpus callosum2FRMD4A CL E G H5569125491OMIM:616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia.1
HP:0007370HP:0001338Partial agenesis of the corpus callosum2FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type IIHP:0040284 - Very rare3
HP:0007370HP:0001338Partial agenesis of the corpus callosum2GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0007370HP:0001338Partial agenesis of the corpus callosum2GPSM2 CL E G H2989929501OMIM:604213CHUDLEY-MCCULLOUGH SYNDROME; CMCS74
HP:0007370HP:0001338Partial agenesis of the corpus callosum2GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0007370HP:0001338Partial agenesis of the corpus callosum2GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0007370HP:0001338Partial agenesis of the corpus callosum2KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0007370HP:0001338Partial agenesis of the corpus callosum2KATNB1 CL E G H103006217OMIM:616212Lissencephaly 6, with microcephaly10
HP:0007370HP:0001338Partial agenesis of the corpus callosum2KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 652
HP:0007370HP:0001338Partial agenesis of the corpus callosum2KIDINS220 CL E G H5749829508OMIM:617296SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO4
HP:0007370HP:0001338Partial agenesis of the corpus callosum2L1CAM CL E G H38976470OMIM:304100Corpus callosum, partial agenesis of, X-linked.134
HP:0007370HP:0001338Partial agenesis of the corpus callosum2LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional8
HP:0007370HP:0001338Partial agenesis of the corpus callosum2LRP2 CL E G H40366694OMIM:222448Donnai-Barrow syndrome.289
HP:0007370HP:0001338Partial agenesis of the corpus callosum2LRRC32 CL E G H26154161OMIM:619074CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0007370HP:0001338Partial agenesis of the corpus callosum2MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0007370HP:0001338Partial agenesis of the corpus callosum2MDH1 CL E G H41906970OMIM:618959DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0007370HP:0001338Partial agenesis of the corpus callosum2MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0007370HP:0001338Partial agenesis of the corpus callosum2MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0007370HP:0001338Partial agenesis of the corpus callosum2MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitiveHP:0040283 - Occasional9
HP:0007370HP:0001338Partial agenesis of the corpus callosum2MRPS25 CL E G H6443214511OMIM:619025COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0007370HP:0001338Partial agenesis of the corpus callosum2NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0007370HP:0001338Partial agenesis of the corpus callosum2OSTM1 CL E G H2896221652ORPHA:85179Infantile osteopetrosis with neuroaxonal dysplasiaHP:0040282 - Frequent73
HP:0007370HP:0001338Partial agenesis of the corpus callosum2PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional88
HP:0007370HP:0001338Partial agenesis of the corpus callosum2PDHX CL E G H805021350OMIM:245349Pyruvate dehydrogenase e3-binding protein deficiency.98
HP:0007370HP:0001338Partial agenesis of the corpus callosum2PLCH1 CL E G H2300729185OMIM:619895
HP:0007370HP:0001338Partial agenesis of the corpus callosum2PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0007370HP:0001338Partial agenesis of the corpus callosum2RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0007370HP:0001338Partial agenesis of the corpus callosum2RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0007370HP:0001338Partial agenesis of the corpus callosum2SLC25A19 CL E G H6038614409OMIM:607196Microcephaly, Amish type.36
HP:0007370HP:0001338Partial agenesis of the corpus callosum2SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0007370HP:0001338Partial agenesis of the corpus callosum2TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0007370HP:0001338Partial agenesis of the corpus callosum2TCF12 CL E G H693811623OMIM:615314Craniosynostosis 328
HP:0007370HP:0001338Partial agenesis of the corpus callosum2TMEM260 CL E G H5491620185OMIM:617478Structural heart defects and renal anomalies syndrome2
HP:0007370HP:0001338Partial agenesis of the corpus callosum2TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0007370HP:0001338Partial agenesis of the corpus callosum2TRAPPC12 CL E G H5111224284ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndromeHP:0040282 - Frequent2
HP:0007370HP:0001338Partial agenesis of the corpus callosum2TUBA1A CL E G H784620766ORPHA:171680Lissencephaly due to TUBA1A mutation106
HP:0007370HP:0001338Partial agenesis of the corpus callosum2TUBB CL E G H20306820778OMIM:615771Cortical dysplasia, complex, with other brain malformations 614
HP:0007370HP:0001338Partial agenesis of the corpus callosum2TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040282 - Frequent64
HP:0007370HP:0001338Partial agenesis of the corpus callosum2WDR4 CL E G H1078512756OMIM:618346Microcephaly, growth deficiency, seizures, and brain malformations.


Genes (729) :ABAT ACER3 ACO2 ACTB ACTG1 ACTL6B ACY1 ADAR ADARB1 ADAT3 ADNP AHCY AHDC1 AHI1 AIFM1 AIMP2 AKT3 ALDH6A1 ALDH7A1 ALG12 ALG2 ALG3 ALG8 ALX1 ALX3 ALX4 AMER1 AMPD2 AMT ANKLE2 ANKRD11 AP1G1 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC2 ARFGEF2 ARHGAP31 ARID1A ARID1B ARID2 ARL13B ARL3 ARMC9 ARNT2 ARSI ARX ASNS ASPM ASXL1 ASXL3 ATL1 ATN1 ATP13A2 ATP6AP2 ATP6V1A ATRX B3GALNT2 B3GLCT B4GAT1 B9D1 B9D2 BCOR BICD2 BLTP1 BMP4 BRAF BRAT1 BRF1 BUB1 BUB1B BUB3 C12ORF57 C2CD3 CARS1 CARS2 CASK CASZ1 CBY1 CC2D2A CCDC174 CCDC88A CD96 CDC40 CDC42 CDC42BPB CDH2 CDK10 CDK13 CDK5 CDK5RAP2 CDK6 CDK8 CDKL5 CDON CENPE CENPF CENPJ CEP104 CEP120 CEP135 CEP152 CEP290 CEP41 CEP57 CEP63 CFC1 CHMP1A CILK1 CIT CLCN3 CLCN4 CLP1 CNOT1 CNOT3 CNP CNTNAP1 COASY COG2 COG4 COG6 COG7 COL4A1 COPB2 COX1 COX2 COX3 COX7B CPLANE1 CPLX1 CPT2 CREBBP CRIPT CRPPA CSF1R CSPP1 CTBP1 CTNNA2 CTNNB1 CTU2 CUL4B CWF19L1 CYP11A1 CYP2U1 CYTB DACT1 DAG1 DARS1 DARS2 DCC DCHS1 DCX DDHD2 DDX3X DDX59 DDX6 DEAF1 DHCR24 DHCR7 DHX16 DIAPH1 DIS3L2 DISC1 DISP1 DLL1 DMXL2 DNAL4 DOCK7 DONSON DPAGT1 DPF2 DPH1 DPYD DPYSL5 DYNC1H1 DYNC1I2 DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A EARS2 EBP EFNB1 EHMT1 EIF2AK2 EIF2S3 EMC1 EML1 EMX2 EOMES EP300 EPG5 EPRS1 ERCC2 ERCC3 ERCC5 ERCC6 ERLIN2 ERMARD EXOC2 EXOC7 EXOC8 EXOSC1 EXOSC8 EXTL3 FA2H FAM149B1 FANCB FANCD2 FANCI FAT4 FBXL4 FBXW11 FCSK FDFT1 FDXR FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIG4 FKRP FKTN FLCN FLI1 FLII FLNA FLVCR2 FOXA2 FOXG1 FOXH1 FRMD4A FRMPD4 FUZ GABRA5 GABRB1 GABRD GAD1 GAS1 GBA1 GBA2 GCSH GDF1 GFER GFM1 GFM2 GJC2 GLDC GLI2 GLI3 GLRX5 GLUL GLYCTK GMPPB GNAO1 GOT2 GPC3 GPC4 GPKOW GPSM2 GPT2 GPX4 GRIA3 GRIA4 GRIN1 GRIN2A GRM7 GTF2E2 GTF2H5 GTPBP2 H3-3A HACE1 HCCS HESX1 HIBCH HIC1 HIVEP2 HK1 HNRNPK HNRNPR HNRNPU HPDL HRAS HS2ST1 HSD17B4 HSPA9 HSPG2 HTRA2 HUWE1 HYLS1 IBA57 IER3IP1 IFIH1 IFT140 IFT52 IFT80 IGBP1 IGF1R INPP5E IQSEC2 KANSL1 KAT5 KAT6B KAT8 KATNB1 KATNIP KCNA1 KCNAB2 KCNK4 KCNQ2 KCNT1 KCNT2 KCTD7 KDM1A KDM4B KDM5B KIAA0586 KIAA0753 KIDINS220 KIF14 KIF15 KIF2A KIF5C KIF7 KIFBP KMT2C KNL1 KRAS L1CAM LAMB1 LARGE1 LETM1 LHX3 LHX4 LIG4 LMBR1 LMNB1 LNPK LONP1 LRP2 LRRC32 LSM11 LSS LUZP1 MACF1 MAF MAN2C1 MAP1B MAPK8IP3 MAPKAPK5 MAPRE2 MBTPS2 MCM7 MCPH1 MDH1 MED12 MED12L MED25 MEF2C METTL5 MFSD2A MID1 MINPP1 MKS1 MLH1 MMP23B MOCS1 MOCS2 MOGS MPLKIP MRPS16 MRPS22 MRPS25 MTHFR MTRFR NAA10 NADK2 NALCN NANS NARS1 NARS2 NCAPD3 ND1 ND4 ND5 ND6 NDE1 NDUFA2 NDUFAF5 NDUFB11 NEDD4L NELFA NEUROD2 NEXMIF NF1 NFIA NFIX NHLRC2 NKX2-1 NKX6-2 NMNAT1 NODAL NONO NOVA2 NPHP1 NR2F1 NRAS NRROS NSD1 NSD2 NSUN2 NT5C2 NTN1 NUP188 OCA2 OFD1 OGDHL OSGEP OSTM1 OTUD5 OTUD6B OTX2 PAFAH1B1 PAH PARS2 PAX6 PCGF2 PCLO PCNT PDE6D PDHA1 PDHB PDHX PDPN PDYN PEX1 PGAP1 PHC1 PHGDH PIBF1 PIEZO2 PIGA PIGB PIGG PIGN PIGP PIGQ PIGU PIK3R2 PITX1 PLAA PLCH1 PLPBP PLXNA1 PMS2 PNKP POGZ POLG2 POLR1C POLR2A POLR3A POLR3B POLR3GL POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN POU1F1 POU3F3 PPFIBP1 PPIL1 PPP1R12A PPP1R15B PPP1R21 PPP2CA PPP2R1A PPP2R3C PRDM16 PRKCZ PRKDC PRMT7 PROKR2 PROP1 PRPS1 PRRX1 PRUNE1 PSAP PSAT1 PTCH1 PTDSS1 PTPN23 PUF60 PUS3 PYCR1 PYCR2 QARS1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAC1 RAC3 RAD51 RAI1 RALGAPA1 RARS1 RB1 RECQL4 RELN REPS1 RERE RHOBTB2 RMND1 RNASEH2A RNASEH2B RNASEH2C RNF113A RNF13 RNU4ATAC RNU7-1 RORA RPGRIP1 RPGRIP1L RPS6KA3 RSPO2 RSPRY1 RTTN RUSC2 RXYLT1 SACS SALL1 SAMHD1 SASS6 SCN1B SCN2A SCN3A SCYL2 SEC31A SEPSECS SETBP1 SETD2 SF3B2 SH3PXD2B SHANK3 SHH SHMT2 SHOC2 SIK1 SIN3A SIX3 SIX6 SKI SLC12A2 SLC12A6 SLC1A2 SLC1A4 SLC25A1 SLC25A10 SLC25A19 SLC25A22 SLC25A24 SLC30A9 SLC35A2 SLC5A6 SLC6A8 SLC6A9 SLC9A6 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMG9 SMO SNIP1 SON SOX11 SOX2 SOX3 SOX4 SPATA5 SPATA5L1 SPEN SPG11 SPG21 SPTAN1 SRPX2 SSR4 STAG2 STAMBP STIL STXBP1 SUFU SUPT16H SUZ12 SVBP SYNJ1 TAF1 TAF13 TAF2 TARS1 TARS2 TBC1D20 TBC1D23 TBCD TBCE TBCK TCF12 TCF4 TCTN1 TCTN2 TCTN3 TDGF1 TECPR2 TGFB1 TGIF1 THUMPD1 TMCO1 TMEM106B TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM260 TMEM67 TMEM70 TMTC3 TMX2 TNR TOE1 TOGARAM1 TOPORS TP73 TRAPPC10 TRAPPC12 TRAPPC14 TRAPPC6B TRAPPC9 TREM2 TREX1 TRIM8 TRIP13 TRMT10A TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TRRAP TSEN15 TSEN2 TSEN34 TSEN54 TTC5 TTI2 TUBA1A TUBA8 TUBB TUBB2A TUBB2B TUBB3 TUBGCP2 TXNDC15 TYROBP UBA5 UBE3A UBE3B UBE4B UBTF UGP2 UNC80 UPF3B USP7 USP9X VAC14 VAMP2 VANGL2 VARS1 VARS2 VAX1 VPS11 VPS50 VPS51 VPS53 VWA3B WAC WDR26 WDR35 WDR4 WDR45B WDR62 WDR73 WDR81 WLS WNT3 WT1 WWOX YARS1 YIF1B YWHAE YY1 ZBTB18 ZBTB20 ZDHHC9 ZEB2 ZFR ZFYVE26 ZIC1 ZIC2 ZMIZ1 ZNF148 ZNF335 ZNF423 ZNF462 ZNF699 ZNHIT3 ZSWIM6

Diseases (771) :OMIM:613163 OMIM:617762 OMIM:614559 OMIM:243310 OMIM:614583 OMIM:618468 OMIM:618470 ORPHA:137754 ORPHA:51 OMIM:618862 ORPHA:363528 OMIM:615286 ORPHA:404448 ORPHA:88618 ORPHA:412069 OMIM:615829 ORPHA:475 ORPHA:220493 ORPHA:83629 OMIM:300232 OMIM:618006 OMIM:615937 OMIM:614105 ORPHA:3006 ORPHA:79324 ORPHA:79326 ORPHA:79321 ORPHA:79325 ORPHA:306542 OMIM:136760 ORPHA:391474 OMIM:613451 ORPHA:228390 OMIM:300373 OMIM:615809 OMIM:615686 OMIM:605899 ORPHA:2512 OMIM:616681 ORPHA:261250 OMIM:619548 OMIM:617276 ORPHA:280763 OMIM:614066 OMIM:612936 ORPHA:306511 OMIM:613647 OMIM:618677 ORPHA:821 OMIM:608097 OMIM:100300 ORPHA:1465 ORPHA:251056 OMIM:135900 ORPHA:3157 OMIM:615926 ORPHA:401815 ORPHA:2508 OMIM:300004 ORPHA:1934 OMIM:300215 ORPHA:452 OMIM:615574 OMIM:608716 ORPHA:97297 OMIM:605039 OMIM:615485 OMIM:182600 OMIM:618494 ORPHA:513436 OMIM:300423 ORPHA:93952 OMIM:617403 OMIM:618012 ORPHA:847 ORPHA:899 ORPHA:709 OMIM:261540 OMIM:615287 ORPHA:564 ORPHA:568 OMIM:300166 OMIM:618291 OMIM:617822 ORPHA:139471 OMIM:607932 OMIM:115150 OMIM:618056 ORPHA:444072 ORPHA:1052 OMIM:257300 ORPHA:1777 OMIM:218340 ORPHA:434179 OMIM:615948 OMIM:618891 ORPHA:33364 ORPHA:477774 OMIM:616672 ORPHA:1606 OMIM:619111 ORPHA:1454 ORPHA:2318 OMIM:616816 OMIM:617507 ORPHA:1308 OMIM:619302 ORPHA:487796 OMIM:616737 OMIM:619841 OMIM:618929 OMIM:617694 OMIM:617360 OMIM:616342 OMIM:604804 OMIM:618748 ORPHA:93925 OMIM:614226 ORPHA:93924 ORPHA:280200 ORPHA:93926 ORPHA:220386 OMIM:616051 OMIM:243605 OMIM:617761 OMIM:611134 OMIM:605376 OMIM:614961 OMIM:612651 OMIM:617090 OMIM:619512 OMIM:619517 ORPHA:485350 OMIM:300114 OMIM:615803 ORPHA:556955 OMIM:618672 OMIM:619071 OMIM:616286 OMIM:618186 OMIM:615643 ORPHA:435934 OMIM:617395 ORPHA:263501 OMIM:613489 OMIM:614576 OMIM:608779 OMIM:617800 ORPHA:550 OMIM:300887 ORPHA:2556 OMIM:309801 ORPHA:2754 OMIM:277170 OMIM:194190 ORPHA:280 ORPHA:228308 OMIM:608836 OMIM:180849 OMIM:615789 OMIM:614643 OMIM:618476 OMIM:615636 OMIM:618174 OMIM:615075 ORPHA:404473 OMIM:618142 OMIM:300354 ORPHA:453521 ORPHA:168558 ORPHA:289548 ORPHA:320411 OMIM:615030 ORPHA:137675 ORPHA:857 ORPHA:370997 OMIM:616538 OMIM:615281 ORPHA:137898 ORPHA:238722 OMIM:617542 OMIM:157600 ORPHA:314679 OMIM:601390 ORPHA:2148 OMIM:300067 ORPHA:320380 OMIM:615033 OMIM:300958 ORPHA:457260 ORPHA:2919 OMIM:174300 OMIM:618653 ORPHA:819 ORPHA:35107 OMIM:602398 OMIM:270400 ORPHA:818 OMIM:618733 OMIM:616632 OMIM:267000 ORPHA:171703 ORPHA:411986 OMIM:615859 OMIM:251230 ORPHA:86309 ORPHA:459061 OMIM:274270 OMIM:619435 OMIM:614563 OMIM:618492 OMIM:613091 ORPHA:93271 ORPHA:268261 ORPHA:464311 OMIM:614924 ORPHA:401973 ORPHA:1520 OMIM:304110 ORPHA:96147 ORPHA:261652 OMIM:618877 OMIM:300148 OMIM:616875 OMIM:600348 OMIM:269160 OMIM:242840 ORPHA:1493 OMIM:617951 OMIM:616570 OMIM:214150 ORPHA:209951 OMIM:611225 ORPHA:75857 OMIM:619306 OMIM:619072 OMIM:619076 OMIM:619304 OMIM:616081 ORPHA:508533 ORPHA:171629 ORPHA:329308 OMIM:612319 OMIM:300514 OMIM:227646 OMIM:609053 OMIM:615546 OMIM:615471 OMIM:618914 OMIM:618324 OMIM:618156 ORPHA:543470 ORPHA:2396 OMIM:613001 ORPHA:2117 OMIM:615465 OMIM:147950 OMIM:101200 ORPHA:87 OMIM:123790 OMIM:616482 ORPHA:85165 OMIM:606812 OMIM:216340 ORPHA:3472 ORPHA:370959 ORPHA:370968 OMIM:236670 OMIM:613153 ORPHA:272 OMIM:253800 OMIM:610883 ORPHA:2308 ORPHA:555877 OMIM:300049 OMIM:225790 ORPHA:95494 ORPHA:261144 OMIM:613454 OMIM:616819 ORPHA:466688 OMIM:300983 ORPHA:1136 OMIM:618559 OMIM:617153 OMIM:619124 ORPHA:2072 OMIM:614409 OMIM:208530 ORPHA:330054 OMIM:609060 ORPHA:565624 OMIM:613206 OMIM:610829 ORPHA:36 OMIM:175700 ORPHA:380 OMIM:616859 OMIM:610015 ORPHA:941 OMIM:615473 OMIM:617493 OMIM:618721 ORPHA:373 OMIM:312870 ORPHA:2570 OMIM:604213 OMIM:616281 ORPHA:477673 ORPHA:93317 ORPHA:364028 OMIM:617864 ORPHA:208447 OMIM:614254 OMIM:617820 ORPHA:289266 ORPHA:163721 OMIM:618922 OMIM:617988 OMIM:619720 OMIM:616756 ORPHA:464282 ORPHA:226307 OMIM:182230 OMIM:250620 ORPHA:88639 ORPHA:531 OMIM:616977 OMIM:618547 ORPHA:352665 ORPHA:453504 OMIM:620073 ORPHA:238769 OMIM:619026 ORPHA:2612 OMIM:619194 OMIM:261515 OMIM:616854 OMIM:617248 OMIM:309590 ORPHA:2189 OMIM:236680 ORPHA:468661 OMIM:615330 OMIM:614231 OMIM:266920 OMIM:617102 ORPHA:52055 OMIM:300472 OMIM:270450 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:619103 ORPHA:85201 OMIM:606170 OMIM:618974 OMIM:616212 ORPHA:89844 OMIM:618381 OMIM:613720 ORPHA:439218 OMIM:614959 OMIM:617771 OMIM:611726 ORPHA:263516 OMIM:616728 ORPHA:477993 OMIM:619320 OMIM:618109 OMIM:617127 OMIM:619479 OMIM:617296 ORPHA:521390 OMIM:619501 OMIM:616258 ORPHA:261323 OMIM:615411 OMIM:615282 OMIM:200990 OMIM:607131 OMIM:614120 ORPHA:166024 ORPHA:66629 OMIM:609460 ORPHA:3339 OMIM:304100 OMIM:307000 ORPHA:2182 OMIM:303350 ORPHA:2466 OMIM:615191 ORPHA:235 ORPHA:2378 ORPHA:99027 OMIM:619179 OMIM:618090 OMIM:600373 ORPHA:79243 OMIM:222448 ORPHA:2143 OMIM:619074 OMIM:618840 OMIM:618325 ORPHA:1272 OMIM:619775 OMIM:618918 OMIM:618443 OMIM:619869 OMIM:616734 ORPHA:2273 OMIM:308205 OMIM:618959 ORPHA:93932 ORPHA:776 OMIM:309520 OMIM:305450 OMIM:618872 ORPHA:464738 OMIM:616449 ORPHA:228384 OMIM:616486 ORPHA:2745 OMIM:300000 ORPHA:284339 OMIM:249000 OMIM:276300 OMIM:252150 OMIM:252160 OMIM:606056 ORPHA:79330 OMIM:234050 OMIM:610498 OMIM:611719 OMIM:619025 ORPHA:563612 ORPHA:320375 ORPHA:254930 OMIM:615035 ORPHA:431361 ORPHA:371364 OMIM:610442 OMIM:619091 OMIM:616239 OMIM:614019 OMIM:605013 OMIM:618235 OMIM:618238 OMIM:300952 OMIM:617201 OMIM:618374 ORPHA:85277 ORPHA:363700 ORPHA:401986 OMIM:613735 ORPHA:420179 OMIM:602535 OMIM:614753 OMIM:618278 ORPHA:209905 ORPHA:527497 OMIM:619260 ORPHA:466791 OMIM:618859 ORPHA:220497 ORPHA:401777 OMIM:618875 OMIM:117550 OMIM:613162 OMIM:618804 ORPHA:98794 OMIM:311200 ORPHA:2750 OMIM:619701 OMIM:617729 ORPHA:85179 OMIM:301056 ORPHA:505237 OMIM:617452 ORPHA:990 ORPHA:217385 ORPHA:95232 ORPHA:2209 OMIM:618437 OMIM:106210 OMIM:618371 OMIM:608027 ORPHA:2637 OMIM:615665 OMIM:312170 ORPHA:255138 OMIM:614111 ORPHA:255182 OMIM:245349 OMIM:610245 OMIM:214100 ORPHA:401820 OMIM:615802 ORPHA:79351 OMIM:256520 ORPHA:2461 OMIM:248700 OMIM:300868 OMIM:618580 ORPHA:488635 OMIM:616917 ORPHA:2059 ORPHA:280633 OMIM:617599 OMIM:618590 OMIM:603387 OMIM:119800 OMIM:617527 ORPHA:521426 OMIM:619895 OMIM:619955 OMIM:619101 OMIM:613402 OMIM:616364 ORPHA:468678 OMIM:618528 OMIM:616494 OMIM:618603 OMIM:607694 ORPHA:447896 ORPHA:3455 OMIM:264090 OMIM:614381 OMIM:619234 OMIM:253280 OMIM:615249 OMIM:613155 OMIM:613150 OMIM:613156 OMIM:305600 OMIM:618604 OMIM:620024 OMIM:619301 OMIM:618820 OMIM:616817 ORPHA:391408 OMIM:619383 OMIM:618354 OMIM:616362 ORPHA:457284 OMIM:618419 OMIM:615966 ORPHA:464288 ORPHA:423479 OMIM:202650 OMIM:617481 OMIM:611721 ORPHA:284417 OMIM:610828 ORPHA:2658 OMIM:151050 OMIM:618890 ORPHA:508488 ORPHA:508498 ORPHA:488627 OMIM:612940 OMIM:616420 ORPHA:481152 OMIM:615760 ORPHA:2510 OMIM:614222 OMIM:201000 OMIM:619420 OMIM:600118 ORPHA:401830 OMIM:614225 OMIM:617751 ORPHA:500159 OMIM:618577 ORPHA:1713 OMIM:618797 OMIM:616140 ORPHA:438114 ORPHA:1587 OMIM:218600 OMIM:617916 OMIM:616975 ORPHA:494344 OMIM:618004 OMIM:614922 OMIM:610329 OMIM:618379 ORPHA:544503 ORPHA:1824 OMIM:210710 ORPHA:353298 OMIM:618060 ORPHA:192 ORPHA:3301 ORPHA:457395 ORPHA:468631 OMIM:614833 OMIM:617773 ORPHA:98 OMIM:617938 OMIM:618766 OMIM:618651 ORPHA:2524 OMIM:613811 OMIM:269150 ORPHA:798 OMIM:164210 OMIM:249420 ORPHA:48652 OMIM:619121 OMIM:607721 OMIM:613406 OMIM:157170 OMIM:206900 OMIM:619083 OMIM:218000 ORPHA:1496 OMIM:617105 OMIM:616657 ORPHA:447997 OMIM:618197 OMIM:618972 ORPHA:99742 OMIM:607196 OMIM:612289 OMIM:617595 OMIM:300896 ORPHA:356961 OMIM:618973 OMIM:300352 OMIM:617301 ORPHA:85278 OMIM:618779 OMIM:616938 OMIM:301044 OMIM:616920 OMIM:601707 ORPHA:1553 OMIM:614501 ORPHA:500150 OMIM:617140 ORPHA:77298 ORPHA:67045 OMIM:616577 ORPHA:457351 OMIM:619616 OMIM:619312 ORPHA:2822 OMIM:616668 OMIM:604360 ORPHA:101001 OMIM:613477 OMIM:300934 ORPHA:370927 OMIM:301043 ORPHA:521258 OMIM:614261 OMIM:612164 OMIM:619480 OMIM:618786 OMIM:618569 OMIM:617389 OMIM:300966 ORPHA:480907 OMIM:615599 ORPHA:397951 OMIM:615918 OMIM:615663 OMIM:617695 ORPHA:496641 OMIM:617193 ORPHA:496756 OMIM:617207 OMIM:241410 OMIM:616900 ORPHA:488632 OMIM:615314 ORPHA:2896 OMIM:610954 OMIM:614815 ORPHA:320385 OMIM:615031 OMIM:618213 OMIM:619989 ORPHA:1394 OMIM:213980 OMIM:617964 OMIM:617478 ORPHA:1194 OMIM:617255 OMIM:618730 OMIM:619653 OMIM:614969 OMIM:619185 OMIM:619466 ORPHA:500144 OMIM:617669 OMIM:618351 OMIM:617862 ORPHA:352530 OMIM:613192 OMIM:618193 OMIM:618454 OMIM:612389 OMIM:619244 ORPHA:391307 OMIM:611603 ORPHA:171680 ORPHA:250972 OMIM:615771 OMIM:156610 OMIM:615763 OMIM:610031 ORPHA:300573 ORPHA:300570 OMIM:614039 OMIM:600638 OMIM:618737 OMIM:221770 OMIM:617132 OMIM:244450 ORPHA:500180 OMIM:617672 OMIM:618744 OMIM:616801 ORPHA:500055 OMIM:300968 ORPHA:480880 OMIM:618760 OMIM:617802 OMIM:615917 OMIM:614402 OMIM:616683 ORPHA:466934 OMIM:619685 OMIM:618606 OMIM:615851 OMIM:616948 OMIM:616708 ORPHA:284169 ORPHA:513456 OMIM:617616 OMIM:618346 OMIM:617977 OMIM:604317 OMIM:251300 OMIM:610185 OMIM:619648 OMIM:616211 OMIM:619418 OMIM:619125 ORPHA:506358 ORPHA:36367 OMIM:612337 OMIM:259050 OMIM:235730 ORPHA:261552 ORPHA:261537 ORPHA:401840 ORPHA:100996 OMIM:270700 OMIM:616602 OMIM:618736 OMIM:618659 OMIM:617260 OMIM:615095 OMIM:618619 OMIM:619488 OMIM:260565 OMIM:603671 ORPHA:1827
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.