Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ABAT CL E G H | 18 | 23 | OMIM:613163 | GABA-transaminase deficiency | | | | 120 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ACER3 CL E G H | 55331 | 16066 | OMIM:617762 | Leukodystrophy, progressive, early childhood-onset | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ACO2 CL E G H | 50 | 118 | OMIM:614559 | INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD | | | | 60 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | | | | 72 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ACTG1 CL E G H | 71 | 144 | OMIM:614583 | Baraitser-Winter syndrome 2 | | | | 123 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ACTL6B CL E G H | 51412 | 160 | OMIM:618468 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76 | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ACTL6B CL E G H | 51412 | 160 | OMIM:618470 | Intellectual developmental disorder with severe speech and ambulation defects | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ACY1 CL E G H | 95 | 177 | ORPHA:137754 | Neurological conditions associated with aminoacylase 1 deficiency | HP:0040283 - Occasional | | | 13 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 116 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ADARB1 CL E G H | 104 | 226 | OMIM:618862 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | | | | 9 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ADAT3 CL E G H | 113179 | 25151 | OMIM:615286 | Mental retardation, autosomal recessive 36 | | | | 9 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | | | | 47 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | | | | 31 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | AHDC1 CL E G H | 27245 | 25230 | ORPHA:412069 | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | | | | 36 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | AHDC1 CL E G H | 27245 | 25230 | OMIM:615829 | Xia-Gibbs syndrome | | | | 36 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 175 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:83629 | Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome | | | | 60 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | | | | 60 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | AIMP2 CL E G H | 7965 | 20609 | OMIM:618006 | Leukodystrophy, hypomyelinating, 17 | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | AKT3 CL E G H | 10000 | 393 | OMIM:615937 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2 | | | | 19 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ALDH6A1 CL E G H | 4329 | 7179 | OMIM:614105 | Methylmalonate semialdehyde dehydrogenase deficiency | | | | 35 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ALDH7A1 CL E G H | 501 | 877 | ORPHA:3006 | Pyridoxine-dependent epilepsy | | | | 227 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ALG2 CL E G H | 85365 | 23159 | ORPHA:79326 | ALG2-CDG | | | | 46 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | | | | 37 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | | | | 46 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ALX1 CL E G H | 8092 | 1494 | ORPHA:306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | | | | 5 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | | | | 9 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ALX3 CL E G H | 257 | 449 | ORPHA:391474 | Frontorhiny | HP:0040282 - Frequent | | | 9 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ALX4 CL E G H | 60529 | 450 | OMIM:613451 | Frontonasal dysplasia 2 | | | | 132 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ALX4 CL E G H | 60529 | 450 | ORPHA:228390 | Frontonasal dysplasia-alopecia-genital anomalies syndrome | | | | 132 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | | | | 34 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | AMPD2 CL E G H | 271 | 469 | OMIM:615809 | Pontocerebellar hypoplasia, type 9 | | | | 21 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | AMPD2 CL E G H | 271 | 469 | OMIM:615686 | Spastic paraplegia 63, autosomal recessive | | | | 21 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | AMT CL E G H | 275 | 473 | OMIM:605899 | Glycine encephalopathy | | | | 56 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ANKLE2 CL E G H | 23141 | 29101 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ANKLE2 CL E G H | 23141 | 29101 | OMIM:616681 | Microcephaly 16, primary, autosomal recessive | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:261250 | 16q24.3 microdeletion syndrome | | | | 102 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | AP1G1 CL E G H | 164 | 555 | OMIM:619548 | USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | AP3B2 CL E G H | 8120 | 567 | OMIM:617276 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48 | | | | 7 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | AP4B1 CL E G H | 10717 | 572 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 49 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | AP4B1 CL E G H | 10717 | 572 | OMIM:614066 | Spastic paraplegia 47, autosomal recessive | | | | 49 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | AP4E1 CL E G H | 23431 | 573 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 48 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | AP4M1 CL E G H | 9179 | 574 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 41 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | AP4M1 CL E G H | 9179 | 574 | OMIM:612936 | Spastic paraplegia 50, autosomal recessive | | | | 41 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | AP4S1 CL E G H | 11154 | 575 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 18 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | AP5Z1 CL E G H | 9907 | 22197 | ORPHA:306511 | Autosomal recessive spastic paraplegia type 48 | | | | 165 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | AP5Z1 CL E G H | 9907 | 22197 | OMIM:613647 | Spastic paraplegia 48, autosomal recessive | | | | 165 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | APC2 CL E G H | 10297 | 24036 | OMIM:618677 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10 | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ARFGEF2 CL E G H | 10564 | 15853 | OMIM:608097 | Periventricular heterotopia with microcephaly, autosomal recessive | | | | 179 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | | | | 147 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | | | | 88 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:251056 | 6q25 microdeletion syndrome | | | | 219 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | | | | 219 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | | | | 25 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ARL13B CL E G H | 200894 | 25419 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 62 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ARL3 CL E G H | 403 | 694 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ARMC9 CL E G H | 80210 | 20730 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ARNT2 CL E G H | 9915 | 16876 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ARNT2 CL E G H | 9915 | 16876 | OMIM:615926 | Webb-Dattani syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ARSI CL E G H | 340075 | 32521 | ORPHA:401815 | Autosomal recessive spastic paraplegia type 66 | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:2508 | Corpus callosum agenesis-abnormal genitalia syndrome | | | | 166 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ARX CL E G H | 170302 | 18060 | OMIM:300004 | Corpus callosum, agenesis of, with abnormal genitalia | | | | 166 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 166 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ARX CL E G H | 170302 | 18060 | OMIM:300215 | Lissencephaly, X-linked, 2 | | | | 166 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:452 | X-linked lissencephaly with abnormal genitalia | | | | 166 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ASNS CL E G H | 440 | 753 | OMIM:615574 | Asparagine synthetase deficiency | | | | 17 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ASPM CL E G H | 259266 | 19048 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 512 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ASPM CL E G H | 259266 | 19048 | OMIM:608716 | Microcephaly 5, primary, autosomal recessive | | | | 512 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ATL1 CL E G H | 51062 | 11231 | OMIM:182600 | Spastic paraplegia 3, autosomal dominant | | | | 71 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | | | | 16 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:513436 | Autosomal recessive spastic paraplegia type 78 | | | | 100 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300423 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH | | | | 36 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | | | | 36 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:617403 | Cutis laxa, autosomal recessive, type IID | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:618012 | Epileptic encephalopathy, infantile or early childhood, 3 | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | | | | 169 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:899 | Walker-Warburg syndrome | | | | 43 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | | | | 36 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | | | | 17 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | B4GAT1 CL E G H | 11041 | 15685 | ORPHA:899 | Walker-Warburg syndrome | | | | 17 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040283 - Occasional | | | 101 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:618291 | Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | | | | 46 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | BLTP1 CL E G H | 84162 | 26953 | OMIM:617822 | Alkuraya-Kucinskas syndrome | . | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | BMP4 CL E G H | 652 | 1071 | ORPHA:139471 | Microphthalmia with brain and digit anomalies | | | | 38 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | . | | | 276 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | BRAT1 CL E G H | 221927 | 21701 | OMIM:618056 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | | | | 20 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | | | | 7 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | | | | 76 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | C12ORF57 CL E G H | 113246 | 29521 | ORPHA:1777 | Temtamy syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | C12ORF57 CL E G H | 113246 | 29521 | OMIM:218340 | Temtamy syndrome | | | | 13 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | | | | 27 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | C2CD3 CL E G H | 26005 | 24564 | OMIM:615948 | Orofaciodigital syndrome XIV | | | | 27 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CARS1 CL E G H | 833 | 1493 | OMIM:618891 | MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CARS2 CL E G H | 79587 | 25695 | ORPHA:477774 | Combined oxidative phosphorylation defect type 27 | | | | 35 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CARS2 CL E G H | 79587 | 25695 | OMIM:616672 | Combined oxidative phosphorylation deficiency 27 | | | | 35 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 118 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CBY1 CL E G H | 25776 | 1307 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:619111 | COACH SYNDROME 2; COACH2 | | | | 247 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 247 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 247 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 247 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CCDC174 CL E G H | 51244 | 28033 | OMIM:616816 | Hypotonia, infantile, with psychomotor retardation | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CCDC88A CL E G H | 55704 | 25523 | OMIM:617507 | Peho-Like syndrome | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CDC40 CL E G H | 51362 | 17350 | OMIM:619302 | PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | | | | 6 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | | | | 6 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CDK10 CL E G H | 8558 | 1770 | OMIM:617694 | Al Kaissi syndrome | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CDK5 CL E G H | 1020 | 1774 | OMIM:616342 | Lissencephaly 7 with cerebellar hypoplasia | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CDK5RAP2 CL E G H | 55755 | 18672 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 181 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CDK5RAP2 CL E G H | 55755 | 18672 | OMIM:604804 | Microcephaly 3, primary, autosomal recessive | | | | 181 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CDK6 CL E G H | 1021 | 1777 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 6 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CDK8 CL E G H | 1024 | 1779 | OMIM:618748 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 405 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | | | | 200 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CDON CL E G H | 50937 | 17104 | OMIM:614226 | Holoprosencephaly 11 | | | | 200 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | | | | 200 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | | | | 200 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 200 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 200 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CENPE CL E G H | 1062 | 1856 | OMIM:616051 | Microcephaly 13, primary, autosomal recessive | | | | 20 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | | | | 27 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CENPJ CL E G H | 55835 | 17272 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 161 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CEP104 CL E G H | 9731 | 24866 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CEP120 CL E G H | 153241 | 26690 | OMIM:617761 | Joubert syndrome 31 | | | | 7 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 7 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CEP135 CL E G H | 9662 | 29086 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 38 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CEP152 CL E G H | 22995 | 29298 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 146 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 342 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 342 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:611134 | Meckel syndrome, type 4 | | | | 342 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CEP41 CL E G H | 95681 | 12370 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 90 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CEP41 CL E G H | 95681 | 12370 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 90 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CEP63 CL E G H | 80254 | 25815 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 31 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CFC1 CL E G H | 55997 | 18292 | OMIM:605376 | Heterotaxy, visceral, 2, autosomal | | | | 13 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CHMP1A CL E G H | 5119 | 8740 | OMIM:614961 | Pontocerebellar hypoplasia, type 8 | | | | 19 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | . | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CIT CL E G H | 11113 | 1985 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 15 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CIT CL E G H | 11113 | 1985 | OMIM:617090 | Microcephaly 17, primary, autosomal recessive | | | | 15 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619517 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CLCN4 CL E G H | 1183 | 2022 | ORPHA:485350 | CLCN4-related X-linked intellectual disability syndrome | | | | 45 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CLCN4 CL E G H | 1183 | 2022 | OMIM:300114 | Raynaud-Claes syndrome | | | | 45 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CLP1 CL E G H | 10978 | 16999 | OMIM:615803 | Pontocerebellar hypoplasia, type 10 | | | | 7 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CNOT1 CL E G H | 23019 | 7877 | ORPHA:556955 | Pancreatic agenesis-holoprosencephaly syndrome | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CNOT3 CL E G H | 4849 | 7879 | OMIM:618672 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CNP CL E G H | 1267 | 2158 | OMIM:619071 | LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:616286 | Lethal congenital contracture syndrome 7 | | | | 9 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:618186 | Neuropathy, congenital hypomyelinating, 3 | | | | 9 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | COASY CL E G H | 80347 | 29932 | OMIM:615643 | Neurodegeneration with brain iron accumulation 6 | | | | 16 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | COG2 CL E G H | 22796 | 6546 | ORPHA:435934 | COG2-CDG | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | COG2 CL E G H | 22796 | 6546 | OMIM:617395 | Congenital disorder of glycosylation, type IIq | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | | | | 67 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | COG4 CL E G H | 25839 | 18620 | OMIM:613489 | Congenital disorder of glycosylation, type IIj | | | | 67 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | | | | 64 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | COL4A1 CL E G H | 1282 | 2202 | ORPHA:899 | Walker-Warburg syndrome | | | | 193 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | COPB2 CL E G H | 9276 | 2232 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | COPB2 CL E G H | 9276 | 2232 | OMIM:617800 | Microcephaly 19, primary, autosomal recessive | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | COX7B CL E G H | 1349 | 2291 | OMIM:300887 | Linear skin defects with multiple congenital anomalies 2 | | | | 6 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | COX7B CL E G H | 1349 | 2291 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | | | | 6 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | COX7B CL E G H | 1349 | 2291 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 6 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | | | | 101 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | | | | 101 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CRIPT CL E G H | 9419 | 14312 | OMIM:615789 | Short stature with microcephaly and distinctive facies | | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CRPPA CL E G H | 729920 | 37276 | OMIM:614643 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:899 | Walker-Warburg syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:618476 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | | | | 149 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CSPP1 CL E G H | 79848 | 26193 | OMIM:615636 | Joubert syndrome 21 | | | | 57 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CTNNA2 CL E G H | 1496 | 2510 | OMIM:618174 | Cortical dysplasia, complex, with other brain malformations 9 | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:615075 | Neurodevelopmental disorder with spastic diplegia and visual defects | | | | 88 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:404473 | Severe intellectual disability-progressive spastic diplegia syndrome | | | | 88 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CTU2 CL E G H | 348180 | 28005 | OMIM:618142 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | | | | 38 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CWF19L1 CL E G H | 55280 | 25613 | ORPHA:453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | | | | 9 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:168558 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | | | | 31 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | | | | 31 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CYP2U1 CL E G H | 113612 | 20582 | ORPHA:320411 | Autosomal recessive spastic paraplegia type 56 | | | | 18 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CYP2U1 CL E G H | 113612 | 20582 | OMIM:615030 | Spastic paraplegia 56, autosomal recessive | | | | 18 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:137675 | Histiocytoid cardiomyopathy | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:370997 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | | | | 108 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DAG1 CL E G H | 1605 | 2666 | OMIM:616538 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 | | | | 108 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:899 | Walker-Warburg syndrome | | | | 108 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DARS1 CL E G H | 1615 | 2678 | OMIM:615281 | HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DARS2 CL E G H | 55157 | 25538 | ORPHA:137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | | | | 60 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DCC CL E G H | 1630 | 2701 | ORPHA:238722 | Familial congenital mirror movements | | | | 36 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DCC CL E G H | 1630 | 2701 | OMIM:617542 | GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2 | | | | 36 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DCC CL E G H | 1630 | 2701 | OMIM:157600 | Mirror movements 1 | | | | 36 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DCHS1 CL E G H | 8642 | 13681 | ORPHA:314679 | Cerebrofacioarticular syndrome | | | | 27 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | | | | 27 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DCX CL E G H | 1641 | 2714 | ORPHA:2148 | Lissencephaly type 1 due to doublecortin gene mutation | | | | 145 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DCX CL E G H | 1641 | 2714 | OMIM:300067 | Lissencephaly, X-linked, 1 | | | | 145 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DDHD2 CL E G H | 23259 | 29106 | ORPHA:320380 | Autosomal recessive spastic paraplegia type 54 | | | | 29 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DDHD2 CL E G H | 23259 | 29106 | OMIM:615033 | Spastic paraplegia 54, autosomal recessive | | | | 29 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DDX3X CL E G H | 1654 | 2745 | OMIM:300958 | MENTAL RETARDATION, X-LINKED 102; MRX102 | | | | 57 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DDX3X CL E G H | 1654 | 2745 | ORPHA:457260 | X-linked intellectual disability-hypotonia-movement disorder syndrome | | | | 57 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DHCR24 CL E G H | 1718 | 2859 | ORPHA:35107 | Desmosterolosis | | | | 72 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DHCR24 CL E G H | 1718 | 2859 | OMIM:602398 | DESMOSTEROLOSIS | | | | 72 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040283 - Occasional | | | 159 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DIAPH1 CL E G H | 1729 | 2876 | OMIM:616632 | Seizures, cortical blindness, and microcephaly syndrome | | | | 118 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DIS3L2 CL E G H | 129563 | 28648 | OMIM:267000 | Perlman syndrome | | | | 164 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DISC1 CL E G H | 27185 | 2888 | ORPHA:171703 | Microcephaly-polymicrogyria-corpus callosum agenesis syndrome | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | | | | 22 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | | | | 22 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | | | | 22 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 22 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 22 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DNAL4 CL E G H | 10126 | 2955 | ORPHA:238722 | Familial congenital mirror movements | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DOCK7 CL E G H | 85440 | 19190 | ORPHA:411986 | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome | | | | 11 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DOCK7 CL E G H | 85440 | 19190 | OMIM:615859 | Epileptic encephalopathy, early infantile, 23 | | | | 11 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DONSON CL E G H | 29980 | 2993 | OMIM:251230 | Microcephaly-Micromelia syndrome | . | | | 9 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | | | | 38 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DPH1 CL E G H | 1801 | 3003 | ORPHA:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DPYD CL E G H | 1806 | 3012 | OMIM:274270 | Dihydropyrimidine dehydrogenase deficiency | | | | 144 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:614563 | Mental retardation, autosomal dominant 13 | | | | 427 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DYNC1I2 CL E G H | 1781 | 2964 | OMIM:618492 | Neurodevelopmental disorder with microcephaly and structural brain anomalies | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DYNC2H1 CL E G H | 79659 | 2962 | OMIM:613091 | Asphyxiating thoracic dystrophy 3 | | | | 304 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 304 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | | | | 134 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | | | | 134 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | EARS2 CL E G H | 124454 | 29419 | OMIM:614924 | Combined oxidative phosphorylation deficiency 12 | | | | 80 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:401973 | MEND syndrome | | | | 51 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | | | | 27 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | | | | 27 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | | | | 223 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | | | | 223 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | EIF2AK2 CL E G H | 5610 | 9437 | OMIM:618877 | LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | | | | 8 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | EMC1 CL E G H | 23065 | 28957 | OMIM:616875 | Cerebellar atrophy, visual impairment, and psychomotor retardation | | | | 5 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | EML1 CL E G H | 2009 | 3330 | OMIM:600348 | Band heterotopia | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | EMX2 CL E G H | 2018 | 3341 | OMIM:269160 | SCHIZENCEPHALY | | | | 7 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | EOMES CL E G H | 8320 | 3372 | ORPHA:171703 | Microcephaly-polymicrogyria-corpus callosum agenesis syndrome | | | | 7 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | EPG5 CL E G H | 57724 | 29331 | ORPHA:1493 | Vici syndrome | | | | 40 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ERCC5 CL E G H | 2073 | 3437 | OMIM:616570 | Cerebrooculofacioskeletal syndrome 3 | | | | 83 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | | | | 199 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:209951 | Autosomal recessive spastic paraplegia type 18 | | | | 18 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ERLIN2 CL E G H | 11160 | 1356 | OMIM:611225 | Spastic paraplegia 18, autosomal recessive | | | | 18 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ERMARD CL E G H | 55780 | 21056 | ORPHA:75857 | 6q terminal deletion syndrome | | | | 36 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | EXOC7 CL E G H | 23265 | 23214 | OMIM:619072 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | EXOC8 CL E G H | 149371 | 24659 | OMIM:619076 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | EXOSC1 CL E G H | 51013 | 17286 | OMIM:619304 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | EXOSC8 CL E G H | 11340 | 17035 | OMIM:616081 | Pontocerebellar hypoplasia, type 1C | | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | | | | 76 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:329308 | Fatty acid hydroxylase-associated neurodegeneration | | | | 76 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FA2H CL E G H | 79152 | 21197 | OMIM:612319 | Spastic paraplegia 35, autosomal recessive | | | | 76 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FAM149B1 CL E G H | 317662 | 29162 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | | | | 157 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:314679 | Cerebrofacioarticular syndrome | | | | 114 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | | | | 114 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FBXL4 CL E G H | 26235 | 13601 | OMIM:615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | | | | 384 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FBXW11 CL E G H | 23291 | 13607 | OMIM:618914 | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FCSK CL E G H | 197258 | 29500 | OMIM:618324 | Congenital disorder of glycosylation with defective fucosylation 2 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FDFT1 CL E G H | 2222 | 3629 | OMIM:618156 | SQUALENE SYNTHASE DEFICIENCY; SQSD | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FDXR CL E G H | 2232 | 3642 | ORPHA:543470 | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | | | | 17 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | | | | 17 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | | | | 17 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 17 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 17 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | | | | 172 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:613001 | Encephalocraniocutaneous lipomatosis | | | | 172 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2117 | Hartsfield syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:615465 | Hartsfield syndrome | | | | 172 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:147950 | Hypogonadotropic hypogonadism 2 with or without anosmia | | | | 172 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | | | | 172 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | | | | 172 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 172 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 172 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | | | | 175 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:87 | Apert syndrome | | | | 175 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123790 | Beare-Stevenson cutis gyrata syndrome | | | | 175 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:616482 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | | | | 145 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:85165 | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | | | | 145 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FH CL E G H | 2271 | 3700 | OMIM:606812 | Fumarase deficiency | | | | 301 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 157 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 157 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 157 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:613153 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | | | | 157 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:899 | Walker-Warburg syndrome | | | | 157 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:272 | Congenital muscular dystrophy, Fukuyama type | HP:0040283 - Occasional | | | 184 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 184 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | | | | 184 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:899 | Walker-Warburg syndrome | | | | 184 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FLCN CL E G H | 201163 | 27310 | OMIM:610883 | Potocki-Lupski syndrome | | | | 332 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | | | | 8 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:555877 | FLNA-related X-linked myxomatous valvular dysplasia | | | | 493 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:300049 | Heterotopia, periventricular, X-linked dominant | | | | 493 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FLVCR2 CL E G H | 55640 | 20105 | OMIM:225790 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | | | | 47 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FOXG1 CL E G H | 2290 | 3811 | ORPHA:261144 | FOXG1 syndrome due to 14q12 microdeletion | | | | 177 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FOXG1 CL E G H | 2290 | 3811 | OMIM:613454 | Rett syndrome, congenital variant | | | | 177 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | | | | 48 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | | | | 48 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | | | | 48 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 48 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 48 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FRMD4A CL E G H | 55691 | 25491 | OMIM:616819 | Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FRMD4A CL E G H | 55691 | 25491 | ORPHA:466688 | Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FRMPD4 CL E G H | 9758 | 29007 | OMIM:300983 | MENTAL RETARDATION, X-LINKED 104; MRX104 | | | | 32 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:1136 | Arnold-Chiari malformation type II | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GABRA5 CL E G H | 2558 | 4079 | OMIM:618559 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GABRB1 CL E G H | 2560 | 4081 | OMIM:617153 | Epileptic encephalopathy, early infantile, 45 | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | | | | 10 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GAD1 CL E G H | 2571 | 4092 | OMIM:619124 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89 | | | | 44 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | | | | 30 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GCSH CL E G H | 2653 | 4208 | OMIM:605899 | Glycine encephalopathy | | | | 5 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GDF1 CL E G H | 2657 | 4214 | OMIM:208530 | Right atrial isomerism (Ivemark) | | | | 28 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GFER CL E G H | 2671 | 4236 | ORPHA:330054 | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | | | | 14 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GFM1 CL E G H | 85476 | 13780 | OMIM:609060 | Combined oxidative phosphorylation deficiency 1 | | | | 85 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | | | | 43 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:613206 | Spastic paraplegia 44, autosomal recessive | | | | 37 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GLDC CL E G H | 2731 | 4313 | OMIM:605899 | Glycine encephalopathy | | | | 166 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | | | | 173 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 173 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | | | | 173 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | | | | 173 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 173 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 173 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:36 | Acrocallosal syndrome | HP:0040281 - Very frequent | | | 270 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:380 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GLRX5 CL E G H | 51218 | 20134 | OMIM:616859 | Spasticity, childhood-onset, with hyperglycinemia | | | | 17 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GLUL CL E G H | 2752 | 4341 | OMIM:610015 | GLUTAMINE DEFICIENCY, CONGENITAL | | | | 98 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GLYCTK CL E G H | 132158 | 24247 | ORPHA:941 | D-glyceric aciduria | | | | 6 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 34 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 34 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 36 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GNAO1 CL E G H | 2775 | 4389 | OMIM:615473 | Epileptic encephalopathy, early infantile, 17 | | | | 36 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GNAO1 CL E G H | 2775 | 4389 | OMIM:617493 | Neurodevelopmental disorder with involuntary movements | | | | 36 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GOT2 CL E G H | 2806 | 4433 | OMIM:618721 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | 73 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GPKOW CL E G H | 27238 | 30677 | ORPHA:2570 | Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GPSM2 CL E G H | 29899 | 29501 | OMIM:604213 | CHUDLEY-MCCULLOUGH SYNDROME; CMCS | | | | 74 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GPT2 CL E G H | 84706 | 18062 | OMIM:616281 | Mental retardation, autosomal recessive 49 | | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GPT2 CL E G H | 84706 | 18062 | ORPHA:477673 | Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome | | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GPX4 CL E G H | 2879 | 4556 | ORPHA:93317 | Spondylometaphyseal dysplasia, Sedaghatian type | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GRIA3 CL E G H | 2892 | 4573 | ORPHA:364028 | X-linked intellectual disability due to GRIA3 mutations | | | | 30 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GRIA4 CL E G H | 2893 | 4574 | OMIM:617864 | Neurodevelopmental disorder with or without seizures and gait abnormalities | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:208447 | Bilateral generalized polymicrogyria | | | | 108 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 108 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GRIN1 CL E G H | 2902 | 4584 | OMIM:614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | | | | 108 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GRIN1 CL E G H | 2902 | 4584 | OMIM:617820 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | | | | 108 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:289266 | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | | | | 434 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:163721 | Rolandic epilepsy-speech dyspraxia syndrome | | | | 434 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 5 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HACE1 CL E G H | 57531 | 21033 | OMIM:616756 | Spastic paraplegia and psychomotor retardation with or without seizures | | | | 10 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HACE1 CL E G H | 57531 | 21033 | ORPHA:464282 | Spastic paraplegia-severe developmental delay-epilepsy syndrome | | | | 10 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HCCS CL E G H | 3052 | 4837 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | | | | 11 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HCCS CL E G H | 3052 | 4837 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 11 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 21 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 21 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 21 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HESX1 CL E G H | 8820 | 4877 | OMIM:182230 | Septooptic dysplasia | | | | 21 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HIBCH CL E G H | 26275 | 4908 | OMIM:250620 | 3-Hydroxyisobutyryl-Coa hydrolase deficiency | | | | 32 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HIBCH CL E G H | 26275 | 4908 | ORPHA:88639 | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | HP:0040282 - Frequent | | | 32 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HIC1 CL E G H | 3090 | 4909 | ORPHA:531 | Miller-Dieker syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | | | | 13 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:618547 | NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA | | | | 11 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | | | | 8 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | | | | 8 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HNRNPU CL E G H | 3192 | 5048 | ORPHA:238769 | 1q44 microdeletion syndrome | | | | 39 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:2612 | Linear nevus sebaceus syndrome | HP:0040283 - Occasional | | | 113 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HSPA9 CL E G H | 3313 | 5244 | OMIM:616854 | Even-Plus syndrome | | | | 6 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | | | | 345 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HTRA2 CL E G H | 27429 | 14348 | OMIM:617248 | 3-methylglutaconic aciduria, type VIII | | | | 39 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | | | | 98 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:2189 | Hydrolethalus | | | | 31 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | | | | 31 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | IBA57 CL E G H | 200205 | 27302 | ORPHA:468661 | Autosomal recessive spastic paraplegia type 74 | | | | 16 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | IBA57 CL E G H | 200205 | 27302 | OMIM:615330 | Multiple mitochondrial dysfunctions syndrome 3 | | | | 16 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | IER3IP1 CL E G H | 51124 | 18550 | OMIM:614231 | Microcephaly, epilepsy, and diabetes syndrome | | | | 6 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 28 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | IFT52 CL E G H | 51098 | 15901 | OMIM:617102 | Short-Rib thoracic dysplasia 16 with or without polydactyly | | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 65 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | IGBP1 CL E G H | 3476 | 5461 | ORPHA:52055 | Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | | | | 5 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | IGBP1 CL E G H | 3476 | 5461 | OMIM:300472 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA | | | | 5 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | | | | 268 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 111 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 111 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 111 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 119 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | | | | 283 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | | | | 283 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KAT6B CL E G H | 23522 | 17582 | ORPHA:85201 | Genitopatellar syndrome | | | | 141 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KAT6B CL E G H | 23522 | 17582 | OMIM:606170 | Genitopatellar syndrome | | | | 141 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KAT8 CL E G H | 84148 | 17933 | OMIM:618974 | LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KATNB1 CL E G H | 10300 | 6217 | OMIM:616212 | Lissencephaly 6, with microcephaly | | | | 10 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KATNB1 CL E G H | 10300 | 6217 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | | | | 10 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KATNIP CL E G H | 23247 | 29068 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 145 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KCNK4 CL E G H | 50801 | 6279 | OMIM:618381 | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KCNQ2 CL E G H | 3785 | 6296 | OMIM:613720 | Epileptic encephalopathy, early infantile, 7 | | | | 528 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:439218 | KCNQ2-related epileptic encephalopathy | | | | 528 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KCNT1 CL E G H | 57582 | 18865 | OMIM:614959 | Epileptic encephalopathy, early infantile, 14 | | | | 321 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KCNT2 CL E G H | 343450 | 18866 | OMIM:617771 | Epileptic encephalopathy, early infantile, 57 | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KCTD7 CL E G H | 154881 | 21957 | OMIM:611726 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions | | | | 106 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KCTD7 CL E G H | 154881 | 21957 | ORPHA:263516 | Progressive myoclonic epilepsy type 3 | HP:0040283 - Occasional | | | 106 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KDM1A CL E G H | 23028 | 29079 | OMIM:616728 | Cleft palate, psychomotor retardation, and distinctive facial features | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KDM1A CL E G H | 23028 | 29079 | ORPHA:477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KDM5B CL E G H | 10765 | 18039 | OMIM:618109 | Mental retardation, autosomal recessive 65 | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KIAA0753 CL E G H | 9851 | 29110 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:617127 | Orofaciodigital syndrome XV | | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619479 | SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21 | | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KIDINS220 CL E G H | 57498 | 29508 | OMIM:617296 | SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO | | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KIDINS220 CL E G H | 57498 | 29508 | ORPHA:521390 | Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome | | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KIDINS220 CL E G H | 57498 | 29508 | OMIM:619501 | VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG | | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KIF14 CL E G H | 9928 | 19181 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 9 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KIF14 CL E G H | 9928 | 19181 | OMIM:616258 | Meckel syndrome 12 | | | | 9 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KIF2A CL E G H | 3796 | 6318 | OMIM:615411 | Cortical dysplasia, complex, with other brain malformations 3 | | | | 15 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KIF5C CL E G H | 3800 | 6325 | OMIM:615282 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2 | | | | 18 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:36 | Acrocallosal syndrome | HP:0040281 - Very frequent | | | 167 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:607131 | Al-Gazali-Bakalinova syndrome | | | | 167 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2189 | Hydrolethalus | | | | 167 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:614120 | Hydrolethalus syndrome 2 | | | | 167 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:166024 | Multiple epiphyseal dysplasia, Al-Gazali type | | | | 167 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 167 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KIFBP CL E G H | 26128 | 23419 | ORPHA:66629 | Goldberg-Shprintzen megacolon syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KMT2C CL E G H | 58508 | 13726 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | | | | 99 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KNL1 CL E G H | 57082 | 24054 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 112 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | | | | 196 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2612 | Linear nevus sebaceus syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:3339 | Toriello-Lacassie-Droste syndrome | | | | 196 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | L1CAM CL E G H | 3897 | 6470 | OMIM:304100 | Corpus callosum, partial agenesis of, X-linked | | | | 134 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | L1CAM CL E G H | 3897 | 6470 | OMIM:307000 | Hydrocephalus due to congenital stenosis of aqueduct of sylvius | | | | 134 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | L1CAM CL E G H | 3897 | 6470 | ORPHA:2182 | Hydrocephalus with stenosis of the aqueduct of Sylvius | | | | 134 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | L1CAM CL E G H | 3897 | 6470 | OMIM:303350 | MASA syndrome | | | | 134 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | L1CAM CL E G H | 3897 | 6470 | ORPHA:2466 | MASA syndrome | | | | 134 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | LAMB1 CL E G H | 3912 | 6486 | OMIM:615191 | Lissencephaly 5 | | | | 71 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 136 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 136 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:899 | Walker-Warburg syndrome | | | | 136 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 51 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 43 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 43 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:2378 | Laurin-Sandrow syndrome | HP:0040283 - Occasional | | | 106 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | HP:0040283 - Occasional | | | 44 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | LMNB1 CL E G H | 4001 | 6637 | OMIM:619179 | MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26 | | | | 44 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | LNPK CL E G H | 80856 | 21610 | OMIM:618090 | Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | | | | 8 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | LONP1 CL E G H | 9361 | 9479 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | | | | 8 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | LRP2 CL E G H | 4036 | 6694 | ORPHA:2143 | Donnai-Barrow syndrome | HP:0040281 - Very frequent | | | 289 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | LRRC32 CL E G H | 2615 | 4161 | OMIM:619074 | CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | LSS CL E G H | 4047 | 6708 | OMIM:618840 | ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4 | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MACF1 CL E G H | 23499 | 13664 | OMIM:618325 | Lissencephaly 9 with complex brainstem malformation | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | | | | 21 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MAN2C1 CL E G H | 4123 | 6827 | OMIM:619775 | CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MAP1B CL E G H | 4131 | 6836 | OMIM:618918 | PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MAPKAPK5 CL E G H | 8550 | 6889 | OMIM:619869 | | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | | | | 22 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | | | | 22 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MCM7 CL E G H | 4176 | 6950 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MCPH1 CL E G H | 79648 | 6954 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 155 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MDH1 CL E G H | 4190 | 6970 | OMIM:618959 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MED12 CL E G H | 9968 | 11957 | ORPHA:93932 | FG syndrome type 1 | HP:0040282 - Frequent | | | 228 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MED12 CL E G H | 9968 | 11957 | ORPHA:776 | Lujan-Fryns syndrome | HP:0040282 - Frequent | | | 228 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:309520 | Lujan-Fryns syndrome | | | | 228 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:305450 | Opitz-Kaveggia syndrome | | | | 228 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | | | | 43 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MED25 CL E G H | 81857 | 28845 | OMIM:616449 | Basel-Vanagaite-Smirin-Yosef syndrome | | | | 43 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MEF2C CL E G H | 4208 | 6996 | ORPHA:228384 | 5q14.3 microdeletion syndrome | | | | 132 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | METTL5 CL E G H | 29081 | 25006 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MFSD2A CL E G H | 84879 | 25897 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 5 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MFSD2A CL E G H | 84879 | 25897 | OMIM:616486 | Microcephaly 15, primary, autosomal recessive | | | | 5 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MID1 CL E G H | 4281 | 7095 | ORPHA:2745 | Opitz GBBB syndrome | | | | 57 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MID1 CL E G H | 4281 | 7095 | OMIM:300000 | Opitz gbbb syndrome, type I | | | | 57 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 127 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 127 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 127 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | | | | 1819 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MOCS1 CL E G H | 4337 | 7190 | OMIM:252150 | Molybdenum cofactor deficiency, complementation group A | | | | 96 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MOCS2 CL E G H | 4338 | 7193 | OMIM:252160 | Molybdenum cofactor deficiency, complementation group B | | | | 26 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MOGS CL E G H | 7841 | 24862 | OMIM:606056 | Congenital disorder of glycosylation, type IIB | | | | 37 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MOGS CL E G H | 7841 | 24862 | ORPHA:79330 | MOGS-CDG | | | | 37 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MPLKIP CL E G H | 136647 | 16002 | OMIM:234050 | Trichothiodystrophy 4, nonphotosensitive | | | | 9 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MRPS16 CL E G H | 51021 | 14048 | OMIM:610498 | Combined oxidative phosphorylation deficiency 2 | | | | 60 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MRPS22 CL E G H | 56945 | 14508 | OMIM:611719 | Combined oxidative phosphorylation deficiency 5 | | | | 25 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MRPS25 CL E G H | 64432 | 14511 | OMIM:619025 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563612 | Isolated exencephaly | | | | 183 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MTRFR CL E G H | 91574 | 26784 | ORPHA:320375 | Autosomal recessive spastic paraplegia type 55 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MTRFR CL E G H | 91574 | 26784 | ORPHA:254930 | Combined oxidative phosphorylation defect type 7 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | MTRFR CL E G H | 91574 | 26784 | OMIM:615035 | Spastic paraplegia 55, autosomal recessive | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040283 - Occasional | | | 23 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NADK2 CL E G H | 133686 | 26404 | ORPHA:431361 | Progressive encephalopathy with leukodystrophy due to DECR deficiency | | | | 14 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | | | | 48 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NANS CL E G H | 54187 | 19237 | OMIM:610442 | Spondyloepimetaphyseal dysplasia, Genevieve type | | | | 8 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NARS1 CL E G H | 4677 | 7643 | OMIM:619091 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NARS2 CL E G H | 79731 | 26274 | OMIM:616239 | Combined oxidative phosphorylation deficiency 24 | | | | 34 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NCAPD3 CL E G H | 23310 | 28952 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NDE1 CL E G H | 54820 | 17619 | OMIM:614019 | Lissencephaly 4 | | | | 96 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NDE1 CL E G H | 54820 | 17619 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | | | | 96 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NDE1 CL E G H | 54820 | 17619 | OMIM:605013 | MICROHYDRANENCEPHALY | | | | 96 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NDUFA2 CL E G H | 4695 | 7685 | OMIM:618235 | Mitochondrial complex I deficiency, nuclear type 13 | | | | 19 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NDUFAF5 CL E G H | 79133 | 15899 | OMIM:618238 | Mitochondrial complex I deficiency, nuclear type 16 | | | | 34 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:300952 | Linear skin defects with multiple congenital anomalies 3 | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NEDD4L CL E G H | 23327 | 7728 | OMIM:617201 | Periventricular nodular heterotopia 7 | | | | 30 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NEUROD2 CL E G H | 4761 | 7763 | OMIM:618374 | Epileptic encephalopathy, early infantile, 72 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NEXMIF CL E G H | 340533 | 29433 | ORPHA:85277 | X-linked intellectual disability, Cantagrel type | | | | 52 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | | | | 1952 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NFIA CL E G H | 4774 | 7784 | ORPHA:401986 | 1p31p32 microdeletion syndrome | | | | 12 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NFIA CL E G H | 4774 | 7784 | OMIM:613735 | Brain malformations with or without urinary tract defects | | | | 12 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:420179 | Malan overgrowth syndrome | | | | 40 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:614753 | Sotos syndrome 2 | | | | 40 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:209905 | Brain-lung-thyroid syndrome | | | | 51 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NKX6-2 CL E G H | 84504 | 19321 | ORPHA:527497 | NKX6-2-related autosomal recessive hypomyelinating leukodystrophy | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | | | | 45 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | | | | 45 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | | | | 45 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 45 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 45 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | | | | 10 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NOVA2 CL E G H | 4858 | 7887 | OMIM:618859 | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 85 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NR2F1 CL E G H | 7025 | 7975 | ORPHA:401777 | Optic atrophy-intellectual disability syndrome | | | | 37 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:2612 | Linear nevus sebaceus syndrome | HP:0040283 - Occasional | | | 102 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NRROS CL E G H | 375387 | 24613 | OMIM:618875 | SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040283 - Occasional | | | 544 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | HP:0040283 - Occasional | | | 84 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NT5C2 CL E G H | 22978 | 8022 | OMIM:613162 | Spastic paraplegia 45, autosomal recessive | | | | 15 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NTN1 CL E G H | 9423 | 8029 | ORPHA:238722 | Familial congenital mirror movements | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | NUP188 CL E G H | 23511 | 17859 | OMIM:618804 | SANDESTIG-STEFANOVA SYNDROME; SANDSTEF | | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | | | | 121 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | | | | 201 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | | | | 201 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 201 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | OGDHL CL E G H | 55753 | 25590 | OMIM:619701 | YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | OSGEP CL E G H | 55644 | 18028 | OMIM:617729 | Galloway-Mowat syndrome 3 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | OSTM1 CL E G H | 28962 | 21652 | ORPHA:85179 | Infantile osteopetrosis with neuroaxonal dysplasia | | | | 73 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | OTUD6B CL E G H | 51633 | 24281 | ORPHA:505237 | Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | OTUD6B CL E G H | 51633 | 24281 | OMIM:617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:990 | Agnathia-holoprosencephaly-situs inversus syndrome | | | | 41 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 41 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 41 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:217385 | 17p13.3 microduplication syndrome | | | | 231 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:95232 | Lissencephaly due to LIS1 mutation | | | | 231 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:531 | Miller-Dieker syndrome | | | | 231 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | | | | 641 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PARS2 CL E G H | 25973 | 30563 | OMIM:618437 | Epileptic encephalopathy, early infantile, 75 | | | | 14 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:106210 | Aniridia | | | | 194 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PCLO CL E G H | 27445 | 13406 | OMIM:608027 | Pontocerebellar hypoplasia, type 3 | | | | 6 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PCNT CL E G H | 5116 | 16068 | ORPHA:2637 | Microcephalic osteodysplastic primordial dwarfism type II | | | | 531 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PDE6D CL E G H | 5147 | 8788 | OMIM:615665 | Joubert syndrome 22 | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PDE6D CL E G H | 5147 | 8788 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | | | | 88 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PDHA1 CL E G H | 5160 | 8806 | OMIM:312170 | Pyruvate dehydrogenase e1-alpha deficiency | | | | 88 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PDHB CL E G H | 5162 | 8808 | ORPHA:255138 | Pyruvate dehydrogenase E1-beta deficiency | | | | 37 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PDHB CL E G H | 5162 | 8808 | OMIM:614111 | PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD | | | | 37 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PDHX CL E G H | 8050 | 21350 | ORPHA:255182 | Pyruvate dehydrogenase E3-binding protein deficiency | | | | 98 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PDHX CL E G H | 8050 | 21350 | OMIM:245349 | Pyruvate dehydrogenase e3-binding protein deficiency | | | | 98 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PDYN CL E G H | 5173 | 8820 | OMIM:610245 | Spinocerebellar ataxia 23 | | | | 52 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | . | | | 169 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PGAP1 CL E G H | 80055 | 25712 | ORPHA:401820 | Autosomal recessive spastic paraplegia type 67 | | | | 20 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PGAP1 CL E G H | 80055 | 25712 | OMIM:615802 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 | | | | 20 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PHC1 CL E G H | 1911 | 3182 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 16 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PHGDH CL E G H | 26227 | 8923 | ORPHA:79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | | | | 37 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | | | | 37 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PIBF1 CL E G H | 10464 | 23352 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:2461 | Marden-Walker syndrome | | | | 77 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:248700 | Marden-Walker syndrome | | | | 77 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | | | | 46 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PIGB CL E G H | 9488 | 8959 | OMIM:618580 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:488635 | Early-onset epilepsy-intellectual disability-brain anomalies syndrome | | | | 7 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PIGG CL E G H | 54872 | 25985 | OMIM:616917 | Mental retardation, autosomal recessive 53 | | | | 7 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 7 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | | | | 37 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | | | 37 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PIGP CL E G H | 51227 | 3046 | OMIM:617599 | Epileptic encephalopathy, early infantile, 55 | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PIGU CL E G H | 128869 | 15791 | OMIM:618590 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PIK3R2 CL E G H | 5296 | 8980 | OMIM:603387 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome | | | | 12 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PITX1 CL E G H | 5307 | 9004 | OMIM:119800 | CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF | | | | 8 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PLCH1 CL E G H | 23007 | 29185 | OMIM:619895 | | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PLPBP CL E G H | 11212 | 9457 | ORPHA:3006 | Pyridoxine-dependent epilepsy | | | | 6 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PLXNA1 CL E G H | 5361 | 9099 | OMIM:619955 | | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PMS2 CL E G H | 5395 | 9122 | OMIM:619101 | MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4 | | | | 1121 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 244 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PNKP CL E G H | 11284 | 9154 | OMIM:613402 | Microcephaly, seizures, and developmental delay | | | | 244 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | | | | 35 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:618528 | Mitochondrial DNA depletion syndrome 16 (hepatic type) | | | | 45 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POLR1C CL E G H | 9533 | 20194 | OMIM:616494 | Leukodystrophy, hypomyelinating, 11 | | | | 38 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POLR2A CL E G H | 5430 | 9187 | OMIM:618603 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 138 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | | | | 138 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 67 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:614381 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | | | | 67 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POLR3GL CL E G H | 84265 | 28466 | OMIM:619234 | SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 180 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | . | | | 180 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:899 | Walker-Warburg syndrome | | | | 180 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POMGNT2 CL E G H | 84892 | 25902 | ORPHA:899 | Walker-Warburg syndrome | | | | 33 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 18 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POMK CL E G H | 84197 | 26267 | OMIM:615249 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 | | | | 18 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:899 | Walker-Warburg syndrome | | | | 18 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 213 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 213 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 213 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:613155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | | | | 213 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:899 | Walker-Warburg syndrome | | | | 213 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 221 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 221 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 221 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | | | | 221 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613156 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | | | | 221 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:899 | Walker-Warburg syndrome | | | | 221 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 36 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 36 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | POU3F3 CL E G H | 5455 | 9216 | OMIM:618604 | SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PPFIBP1 CL E G H | 8496 | 9249 | OMIM:620024 | | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PPIL1 CL E G H | 51645 | 9260 | OMIM:619301 | PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PPP1R12A CL E G H | 4659 | 7618 | OMIM:618820 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PPP1R15B CL E G H | 84919 | 14951 | OMIM:616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PPP2CA CL E G H | 5515 | 9299 | OMIM:618354 | Neurodevelopmental disorder and language delay with or without structural brain abnormalities | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PPP2R1A CL E G H | 5518 | 9302 | OMIM:616362 | Mental retardation, autosomal dominant 36 | | | | 13 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PPP2R1A CL E G H | 5518 | 9302 | ORPHA:457284 | Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | | | | 13 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | | | | 148 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PRKDC CL E G H | 5591 | 9413 | OMIM:615966 | Immunodeficiency 26 with or without neurologic abnormalities | | | | 42 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PRMT7 CL E G H | 54496 | 25557 | ORPHA:464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome | | | | 6 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 34 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 54 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 54 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | | | | 49 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PRRX1 CL E G H | 5396 | 9142 | ORPHA:990 | Agnathia-holoprosencephaly-situs inversus syndrome | | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PRRX1 CL E G H | 5396 | 9142 | OMIM:202650 | Agnathia-Otocephaly complex | | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PRUNE1 CL E G H | 58497 | 13420 | OMIM:617481 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | | | | 8 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:611721 | Combined saposin deficiency | | | | 81 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | | | | 27 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | | | | 665 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | | | | 665 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | | | | 665 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 665 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 665 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PTDSS1 CL E G H | 9791 | 9587 | ORPHA:2658 | Lenz-Majewski hyperostotic dwarfism | | | | 6 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PTDSS1 CL E G H | 9791 | 9587 | OMIM:151050 | Lenz-Majewski hyperostotic dwarfism | | | | 6 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PTPN23 CL E G H | 25930 | 14406 | OMIM:618890 | NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | | | | 19 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | | | | 19 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PUS3 CL E G H | 83480 | 25461 | ORPHA:488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PYCR1 CL E G H | 5831 | 9721 | OMIM:612940 | Cutis laxa, autosomal recessive, type IIB | | | | 53 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 11 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PYCR2 CL E G H | 29920 | 30262 | OMIM:616420 | Leukodystrophy, hypomyelinating, 10 | | | | 11 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:481152 | PYCR2-related microcephaly-progressive leukoencephalopathy | | | | 11 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | QARS1 CL E G H | 5859 | 9751 | OMIM:615760 | Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RAB18 CL E G H | 22931 | 14244 | ORPHA:2510 | Micro syndrome | HP:0040281 - Very frequent | | | 85 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | | | | 85 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:619420 | MARTSOLF SYNDROME 2; MARTS2 | | | | 90 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:2510 | Micro syndrome | HP:0040281 - Very frequent | | | 90 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:600118 | Warburg micro syndrome 1 | | | | 90 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:401830 | Autosomal recessive spastic paraplegia type 69 | | | | 135 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:2510 | Micro syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:614225 | Warburg micro syndrome 2 | | | | 135 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RAC1 CL E G H | 5879 | 9801 | OMIM:617751 | Mental retardation, autosomal dominant 48 | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RAC1 CL E G H | 5879 | 9801 | ORPHA:500159 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RAC3 CL E G H | 5881 | 9803 | OMIM:618577 | NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:238722 | Familial congenital mirror movements | | | | 9 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:1713 | 17p11.2 microduplication syndrome | | | | 150 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RALGAPA1 CL E G H | 253959 | 17770 | OMIM:618797 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RARS1 CL E G H | 5917 | 9870 | OMIM:616140 | Leukodystrophy, hypomyelinating, 9 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RARS1 CL E G H | 5917 | 9870 | ORPHA:438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RB1 CL E G H | 5925 | 9884 | ORPHA:1587 | Monosomy 13q14 | | | | 365 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:218600 | Baller-Gerold syndrome | | | | 445 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RELN CL E G H | 5649 | 9957 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | | | | 334 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | REPS1 CL E G H | 85021 | 15578 | OMIM:617916 | Neurodegeneration with brain iron accumulation 7 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | | | | 16 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RERE CL E G H | 473 | 9965 | ORPHA:494344 | RERE-related neurodevelopmental syndrome | | | | 16 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RHOBTB2 CL E G H | 23221 | 18756 | OMIM:618004 | Epileptic encephalopathy, early infantile, 64 | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RMND1 CL E G H | 55005 | 21176 | OMIM:614922 | Combined oxidative phosphorylation deficiency 11 | | | | 26 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 33 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 34 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 60 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RNASEH2C CL E G H | 84153 | 24116 | OMIM:610329 | Aicardi-Goutieres syndrome 3 | | | | 60 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RNF13 CL E G H | 11342 | 10057 | OMIM:618379 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RNF13 CL E G H | 11342 | 10057 | ORPHA:544503 | RNF13-related severe early-onset epileptic encephalopathy | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:1824 | Lowry-Wood syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RORA CL E G H | 6095 | 10258 | OMIM:618060 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 109 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 167 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 167 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 167 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RSPO2 CL E G H | 340419 | 28583 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | | | | 113 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RTTN CL E G H | 25914 | 18654 | OMIM:614833 | Microcephaly, short stature, and polymicrogyria with or without seizures | | | | 113 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RUSC2 CL E G H | 9853 | 23625 | OMIM:617773 | Mental retardation, autosomal recessive 61 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | RXYLT1 CL E G H | 10329 | 13530 | ORPHA:899 | Walker-Warburg syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | | | | 309 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | | | | 124 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 55 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SASS6 CL E G H | 163786 | 25403 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 126 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 427 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SCN3A CL E G H | 6328 | 10590 | OMIM:617938 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62 | | | | 70 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SCYL2 CL E G H | 55681 | 19286 | OMIM:618766 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SEC31A CL E G H | 22872 | 17052 | OMIM:618651 | HALPERIN-BIRK SYNDROME; HLBKS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 66 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SEPSECS CL E G H | 51091 | 30605 | OMIM:613811 | Pontocerebellar hypoplasia, type 2D | | | | 66 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | | | | 143 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | | | | 53 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | | | | 67 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | | | | 67 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | | | | 67 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 67 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SHH CL E G H | 6469 | 10848 | OMIM:269160 | SCHIZENCEPHALY | | | | 67 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 67 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 11 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | | | | 32 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | | | | 32 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | | | | 32 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 32 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SIX3 CL E G H | 6496 | 10889 | OMIM:269160 | SCHIZENCEPHALY | | | | 32 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 32 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SIX6 CL E G H | 4990 | 10892 | OMIM:206900 | Microphthalmia, syndromic 3 | | | | 20 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | | | | 150 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SLC12A2 CL E G H | 6558 | 10911 | OMIM:619083 | DELPIRE-MCNEILL SYNDROME; DELMNES | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | | | | 163 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SLC12A6 CL E G H | 9990 | 10914 | ORPHA:1496 | Corpus callosum agenesis-neuronopathy syndrome | | | | 163 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SLC1A2 CL E G H | 6506 | 10940 | OMIM:617105 | Epileptic encephalopathy, early infantile, 41 | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SLC1A4 CL E G H | 6509 | 10942 | OMIM:616657 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SLC1A4 CL E G H | 6509 | 10942 | ORPHA:447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SLC25A1 CL E G H | 6576 | 10979 | OMIM:618197 | Myasthenic syndrome, congenital, 23, presynaptic | | | | 28 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SLC25A10 CL E G H | 1468 | 10980 | OMIM:618972 | MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SLC25A19 CL E G H | 60386 | 14409 | ORPHA:99742 | Amish lethal microcephaly | | | | 36 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SLC25A19 CL E G H | 60386 | 14409 | OMIM:607196 | Microcephaly, Amish type | | | | 36 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 166 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | | | | 27 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | | | | 27 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SLC5A6 CL E G H | 8884 | 11041 | OMIM:618973 | NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SLC6A8 CL E G H | 6535 | 11055 | OMIM:300352 | Creatine deficiency syndrome, X-linked | | | | 122 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SLC6A9 CL E G H | 6536 | 11056 | OMIM:617301 | Glycine encephalopathy with normal serum glycine | | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SLC9A6 CL E G H | 10479 | 11079 | ORPHA:85278 | Christianson syndrome | HP:0040282 - Frequent | | | 93 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | | | | 617 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | | | | 87 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SMARCD1 CL E G H | 6602 | 11106 | OMIM:618779 | COFFIN-SIRIS SYNDROME 11; CSS11 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | | | | 47 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SMARCE1 CL E G H | 6605 | 11109 | OMIM:616938 | Coffin-Siris syndrome 5 | | | | 47 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 135 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:616920 | Heart and brain malformation syndrome | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SMO CL E G H | 6608 | 11119 | OMIM:601707 | Curry-Jones syndrome | | | | 22 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:1553 | Curry-Jones syndrome | | | | 22 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SNIP1 CL E G H | 79753 | 30587 | OMIM:614501 | Psychomotor retardation, epilepsy, and craniofacial dysmorphism | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | | | | 12 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | | | | 14 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:77298 | Anophthalmia/microphthalmia-esophageal atresia syndrome | | | | 33 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SOX2 CL E G H | 6657 | 11195 | OMIM:206900 | Microphthalmia, syndromic 3 | | | | 33 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 33 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 24 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:67045 | X-linked intellectual disability with isolated growth hormone deficiency | | | | 24 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SPATA5 CL E G H | 166378 | 18119 | OMIM:616577 | Epilepsy, hearing loss, and mental retardation syndrome | | | | 19 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SPATA5 CL E G H | 166378 | 18119 | ORPHA:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | | | | 19 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SPATA5L1 CL E G H | 79029 | 28762 | OMIM:619616 | NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:2822 | Autosomal recessive spastic paraplegia type 11 | | | | 287 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:616668 | Charcot-Marie-Tooth disease, axonal, type 2X | | | | 287 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | | | | 287 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SPG21 CL E G H | 51324 | 20373 | ORPHA:101001 | Autosomal recessive spastic paraplegia type 21 | | | | 28 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SPTAN1 CL E G H | 6709 | 11273 | OMIM:613477 | Epileptic encephalopathy, early infantile, 5 | | | | 416 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:163721 | Rolandic epilepsy-speech dyspraxia syndrome | | | | 50 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SSR4 CL E G H | 6748 | 11326 | OMIM:300934 | Congenital disorder of glycosylation, type Iy | | | | 12 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SSR4 CL E G H | 6748 | 11326 | ORPHA:370927 | SSR4-CDG | | | | 12 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | STAG2 CL E G H | 10735 | 11355 | OMIM:301043 | HOLOPROSENCEPHALY 13, X-LINKED; HPE13 | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:521258 | Xq25 microduplication syndrome | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | STAMBP CL E G H | 10617 | 16950 | OMIM:614261 | Microcephaly-Capillary malformation syndrome | | | | 24 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | | | | 99 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 99 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | | | | 99 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 99 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 99 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | STXBP1 CL E G H | 6812 | 11444 | OMIM:612164 | Epileptic encephalopathy, early infantile, 4 | | | | 237 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | | | | 124 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SUPT16H CL E G H | 11198 | 11465 | OMIM:619480 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SUZ12 CL E G H | 23512 | 17101 | OMIM:618786 | IMAGAWA-MATSUMOTO SYNDROME; IMMAS | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | SYNJ1 CL E G H | 8867 | 11503 | OMIM:617389 | Epileptic encephalopathy, early infantile, 53 | | | | 9 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TAF1 CL E G H | 6872 | 11535 | ORPHA:480907 | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome | | | | 21 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TAF13 CL E G H | 6884 | 11546 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TAF2 CL E G H | 6873 | 11536 | OMIM:615599 | Mental retardation, autosomal recessive 40 | | | | 7 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TAF2 CL E G H | 6873 | 11536 | ORPHA:397951 | Microcephaly-thin corpus callosum-intellectual disability syndrome | | | | 7 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TARS2 CL E G H | 80222 | 30740 | OMIM:615918 | Combined oxidative phosphorylation deficiency 21 | | | | 28 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TBC1D20 CL E G H | 128637 | 16133 | ORPHA:2510 | Micro syndrome | HP:0040281 - Very frequent | | | 15 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TBC1D23 CL E G H | 55773 | 25622 | OMIM:617695 | Pontocerebellar hypoplasia, type 11 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | | | | 16 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:496756 | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | | | | 52 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:617207 | ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO | | | | 52 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:241410 | Hypoparathyroidism-Retardation-Dysmorphism syndrome | | | | 52 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | | | | 13 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TCF12 CL E G H | 6938 | 11623 | OMIM:615314 | Craniosynostosis 3 | | | | 28 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | HP:0040282 - Frequent | | | 241 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TCTN3 CL E G H | 26123 | 24519 | OMIM:614815 | Joubert syndrome 18 | | | | 31 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 31 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TECPR2 CL E G H | 9895 | 19957 | ORPHA:320385 | Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | | | | 39 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TECPR2 CL E G H | 9895 | 19957 | OMIM:615031 | Spastic paraplegia 49, autosomal recessive | | | | 39 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE | | | | 13 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | | | | 32 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | | | | 32 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 32 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 32 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | THUMPD1 CL E G H | 55623 | 23807 | OMIM:619989 | | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TMCO1 CL E G H | 54499 | 18188 | ORPHA:1394 | Cerebrofaciothoracic dysplasia | | | | 6 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TMEM106B CL E G H | 54664 | 22407 | OMIM:617964 | Leukodystrophy, hypomyelinating, 16 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TMEM138 CL E G H | 51524 | 26944 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 39 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 45 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 45 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TMEM218 CL E G H | 219854 | 27344 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 33 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 82 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 82 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 82 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 82 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TMEM260 CL E G H | 54916 | 20185 | OMIM:617478 | Structural heart defects and renal anomalies syndrome | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 166 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 166 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 166 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TMEM70 CL E G H | 54968 | 26050 | ORPHA:1194 | TMEM70-related mitochondrial encephalo-cardio-myopathy | HP:0040282 - Frequent | | | 63 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TMTC3 CL E G H | 160418 | 26899 | OMIM:617255 | Lissencephaly 8 | | | | 5 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TMX2 CL E G H | 51075 | 30739 | OMIM:618730 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TNR CL E G H | 7143 | 11953 | OMIM:619653 | NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO | | | | 7 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TOE1 CL E G H | 114034 | 15954 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | | | | 6 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | | | | 6 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TOGARAM1 CL E G H | 23116 | 19959 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TOGARAM1 CL E G H | 23116 | 19959 | OMIM:619185 | JOUBERT SYNDROME 37; JBTS37 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 61 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TP73 CL E G H | 7161 | 12003 | OMIM:619466 | CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TRAPPC10 CL E G H | 7109 | 11868 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TRAPPC12 CL E G H | 51112 | 24284 | ORPHA:500144 | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TRAPPC12 CL E G H | 51112 | 24284 | OMIM:617669 | Encephalopathy, progressive, early-onset, with brain atrophy and spasticity | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TRAPPC14 CL E G H | 55262 | 25604 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TRAPPC14 CL E G H | 55262 | 25604 | OMIM:618351 | Microcephaly 25, primary, autosomal recessive | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TRAPPC6B CL E G H | 122553 | 23066 | OMIM:617862 | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TRAPPC9 CL E G H | 83696 | 30832 | ORPHA:352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | | | | 158 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TRAPPC9 CL E G H | 83696 | 30832 | OMIM:613192 | Mental retardation, autosomal recessive 13 | | | | 158 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TREM2 CL E G H | 54209 | 17761 | OMIM:618193 | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2 | | | | 31 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 56 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | | | | 7 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 3 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 84 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TSEN2 CL E G H | 80746 | 28422 | OMIM:612389 | Pontocerebellar hypoplasia, type 2B | | | | 84 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 57 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 102 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TTC5 CL E G H | 91875 | 19274 | OMIM:619244 | NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TTI2 CL E G H | 80185 | 26262 | ORPHA:391307 | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | | | | 11 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TUBA1A CL E G H | 7846 | 20766 | OMIM:611603 | Lissencephaly 3 | | | | 106 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:171680 | Lissencephaly due to TUBA1A mutation | | | | 106 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TUBA8 CL E G H | 51807 | 12410 | ORPHA:250972 | Polymicrogyria with optic nerve hypoplasia | | | | 21 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TUBB CL E G H | 203068 | 20778 | OMIM:615771 | Cortical dysplasia, complex, with other brain malformations 6 | | | | 14 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | | | | 14 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TUBB2A CL E G H | 7280 | 12412 | OMIM:615763 | Cortical dysplasia, complex, with other brain malformations 5 | | | | 23 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TUBB2B CL E G H | 347733 | 30829 | OMIM:610031 | Cortical dysplasia, complex, with other brain malformations 7 | | | | 39 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TUBB2B CL E G H | 347733 | 30829 | ORPHA:300573 | Polymicrogyria due to TUBB2B mutation | | | | 39 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | | | | 64 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TUBB3 CL E G H | 10381 | 20772 | OMIM:614039 | Cortical dysplasia, complex, with other brain malformations 1 | | | | 64 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TUBB3 CL E G H | 10381 | 20772 | OMIM:600638 | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement | | | | 64 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TUBGCP2 CL E G H | 10844 | 18599 | OMIM:618737 | PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | TYROBP CL E G H | 7305 | 12449 | OMIM:221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | | | | 22 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | UBA5 CL E G H | 79876 | 23230 | OMIM:617132 | Epileptic encephalopathy, early infantile, 44 | | | | 13 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | | | | 278 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | | | | 13 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | UBTF CL E G H | 7343 | 12511 | ORPHA:500180 | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | UBTF CL E G H | 7343 | 12511 | OMIM:617672 | Neurodegeneration, childhood-onset, with brain atrophy | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | UNC80 CL E G H | 285175 | 26582 | OMIM:616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | | | | 23 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | | | | 23 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | UPF3B CL E G H | 65109 | 20439 | ORPHA:776 | Lujan-Fryns syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | | | | 27 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | | | | 27 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | VAMP2 CL E G H | 6844 | 12643 | OMIM:618760 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563612 | Isolated exencephaly | | | | 2 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | VARS1 CL E G H | 7407 | 12651 | OMIM:617802 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | VARS2 CL E G H | 57176 | 21642 | OMIM:615917 | Combined oxidative phosphorylation deficiency 20 | | | | 56 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | VAX1 CL E G H | 11023 | 12660 | OMIM:614402 | Microphthalmia, syndromic 11 | | | | 5 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | VPS11 CL E G H | 55823 | 14583 | OMIM:616683 | Leukodystrophy, hypomyelinating, 12 | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | VPS11 CL E G H | 55823 | 14583 | ORPHA:466934 | VPS11-related autosomal recessive hypomyelinating leukodystrophy | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | VPS50 CL E G H | 55610 | 25956 | OMIM:619685 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | VPS53 CL E G H | 55275 | 25608 | OMIM:615851 | Pontocerebellar hypoplasia, type 2E | | | | 26 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | VWA3B CL E G H | 200403 | 28385 | OMIM:616948 | Spinocerebellar ataxia, autosomal recessive 22 | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | | | | 20 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | | | | 20 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | | | | 8 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | WDR26 CL E G H | 80232 | 21208 | OMIM:617616 | Skraban-Deardorff syndrome | | | | 8 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 136 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | WDR4 CL E G H | 10785 | 12756 | OMIM:618346 | Microcephaly, growth deficiency, seizures, and brain malformations | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | WDR45B CL E G H | 56270 | 25072 | OMIM:617977 | Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | WDR62 CL E G H | 284403 | 24502 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 224 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | | | | 224 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | WDR73 CL E G H | 84942 | 25928 | OMIM:251300 | Galloway-mowat syndrome 1 | | | | 14 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | WDR81 CL E G H | 124997 | 26600 | OMIM:610185 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2 | | | | 27 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | WNT3 CL E G H | 7473 | 12782 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | | | | 12 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:106210 | Aniridia | | | | 177 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | WWOX CL E G H | 51741 | 12799 | OMIM:616211 | Epileptic encephalopathy, early infantile, 28 | | | | 149 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | YIF1B CL E G H | 90522 | 30511 | OMIM:619125 | KAYA-BARAKAT-MASSON SYNDROME; KABAMAS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | YWHAE CL E G H | 7531 | 12851 | ORPHA:217385 | 17p13.3 microduplication syndrome | | | | 14 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | YWHAE CL E G H | 7531 | 12851 | ORPHA:531 | Miller-Dieker syndrome | | | | 14 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | | | | 7 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ZBTB18 CL E G H | 10472 | 13030 | ORPHA:36367 | Distal monosomy 1q | HP:0040281 - Very frequent | | | 16 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ZBTB18 CL E G H | 10472 | 13030 | OMIM:612337 | Mental retardation, autosomal dominant 22 | | | | 16 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ZDHHC9 CL E G H | 51114 | 18475 | ORPHA:776 | Lujan-Fryns syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | | | | 362 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | | | | 362 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | | | | 362 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ZFR CL E G H | 51663 | 17277 | ORPHA:401840 | Autosomal recessive spastic paraplegia type 71 | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ZFYVE26 CL E G H | 23503 | 20761 | ORPHA:100996 | Autosomal recessive spastic paraplegia type 15 | | | | 189 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ZFYVE26 CL E G H | 23503 | 20761 | OMIM:270700 | Spastic paraplegia 15, autosomal recessive | | | | 189 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ZIC1 CL E G H | 7545 | 12872 | OMIM:616602 | Craniosynostosis 6 | | | | 5 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ZIC1 CL E G H | 7545 | 12872 | OMIM:618736 | STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS | | | | 5 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | | | | 34 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | | | | 34 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | | | | 34 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 34 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 34 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ZMIZ1 CL E G H | 57178 | 16493 | OMIM:618659 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ZNF148 CL E G H | 7707 | 12933 | OMIM:617260 | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ZNF335 CL E G H | 63925 | 15807 | OMIM:615095 | Microcephaly 10, primary, autosomal recessive | | | | 60 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ZNF423 CL E G H | 23090 | 16762 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 49 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ZNHIT3 CL E G H | 9326 | 12309 | OMIM:260565 | Peho syndrome | | | | 1 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:603671 | Acromelic frontonasal dysostosis | | | | 5 | | |
HP:0007370 | HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 0 | ZSWIM6 CL E G H | 57688 | 29316 | ORPHA:1827 | Acromelic frontonasal dysplasia | | | | 5 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ABAT CL E G H | 18 | 23 | OMIM:613163 | GABA-transaminase deficiency | . | | | 120 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ACER3 CL E G H | 55331 | 16066 | OMIM:617762 | Leukodystrophy, progressive, early childhood-onset | . | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ACO2 CL E G H | 50 | 118 | OMIM:614559 | INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD | | | | 60 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | . | | | 72 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ACTG1 CL E G H | 71 | 144 | OMIM:614583 | Baraitser-Winter syndrome 2 | HP:0040283 - Occasional | | | 123 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ACTL6B CL E G H | 51412 | 160 | OMIM:618468 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76 | | | | 2 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ACTL6B CL E G H | 51412 | 160 | OMIM:618470 | Intellectual developmental disorder with severe speech and ambulation defects | . | | | 2 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 116 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ADARB1 CL E G H | 104 | 226 | OMIM:618862 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS | | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040284 - Very rare | | | 9 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040284 - Very rare | | | 9 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ADAT3 CL E G H | 113179 | 25151 | OMIM:615286 | Mental retardation, autosomal recessive 36 | . | | | 9 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | HP:0040282 - Frequent | | | 31 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | AHDC1 CL E G H | 27245 | 25230 | ORPHA:412069 | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | AHDC1 CL E G H | 27245 | 25230 | OMIM:615829 | Xia-Gibbs syndrome | . | | | 36 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | AHI1 CL E G H | 54806 | 21575 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 175 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:83629 | Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | . | | | 60 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | AIMP2 CL E G H | 7965 | 20609 | OMIM:618006 | Leukodystrophy, hypomyelinating, 17 | . | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | AKT3 CL E G H | 10000 | 393 | OMIM:615937 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2 | . | | | 19 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ALDH6A1 CL E G H | 4329 | 7179 | OMIM:614105 | Methylmalonate semialdehyde dehydrogenase deficiency | . | | | 35 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ALDH7A1 CL E G H | 501 | 877 | ORPHA:3006 | Pyridoxine-dependent epilepsy | HP:0040282 - Frequent | | | 227 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040283 - Occasional | | | 68 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ALG2 CL E G H | 85365 | 23159 | ORPHA:79326 | ALG2-CDG | HP:0040283 - Occasional | | | 46 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | HP:0040284 - Very rare | | | 37 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | HP:0040283 - Occasional | | | 46 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ALX1 CL E G H | 8092 | 1494 | ORPHA:306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | . | | | 9 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ALX4 CL E G H | 60529 | 450 | OMIM:613451 | Frontonasal dysplasia 2 | . | | | 132 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ALX4 CL E G H | 60529 | 450 | ORPHA:228390 | Frontonasal dysplasia-alopecia-genital anomalies syndrome | HP:0040282 - Frequent | | | 132 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | | | | 34 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | AMPD2 CL E G H | 271 | 469 | OMIM:615809 | Pontocerebellar hypoplasia, type 9 | . | | | 21 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | AMPD2 CL E G H | 271 | 469 | OMIM:615686 | Spastic paraplegia 63, autosomal recessive | HP:0040283 - Occasional | | | 21 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | AMT CL E G H | 275 | 473 | OMIM:605899 | Glycine encephalopathy | . | | | 56 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ANKLE2 CL E G H | 23141 | 29101 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ANKLE2 CL E G H | 23141 | 29101 | OMIM:616681 | Microcephaly 16, primary, autosomal recessive | . | | | 3 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:261250 | 16q24.3 microdeletion syndrome | HP:0040282 - Frequent | | | 102 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | AP1G1 CL E G H | 164 | 555 | OMIM:619548 | USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | AP3B2 CL E G H | 8120 | 567 | OMIM:617276 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48 | | | | 7 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | AP4B1 CL E G H | 10717 | 572 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040283 - Occasional | | | 49 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | AP4B1 CL E G H | 10717 | 572 | OMIM:614066 | Spastic paraplegia 47, autosomal recessive | . | | | 49 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | AP4E1 CL E G H | 23431 | 573 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040283 - Occasional | | | 48 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | AP4M1 CL E G H | 9179 | 574 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040283 - Occasional | | | 41 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | AP4M1 CL E G H | 9179 | 574 | OMIM:612936 | Spastic paraplegia 50, autosomal recessive | . | | | 41 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | AP4S1 CL E G H | 11154 | 575 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040283 - Occasional | | | 18 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | AP5Z1 CL E G H | 9907 | 22197 | ORPHA:306511 | Autosomal recessive spastic paraplegia type 48 | HP:0040281 - Very frequent | | | 165 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | AP5Z1 CL E G H | 9907 | 22197 | OMIM:613647 | Spastic paraplegia 48, autosomal recessive | . | | | 165 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | APC2 CL E G H | 10297 | 24036 | OMIM:618677 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10 | | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ARFGEF2 CL E G H | 10564 | 15853 | OMIM:608097 | Periventricular heterotopia with microcephaly, autosomal recessive | . | | | 179 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | . | | | 147 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ARID1B CL E G H | 57492 | 18040 | ORPHA:251056 | 6q25 microdeletion syndrome | HP:0040282 - Frequent | | | 219 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 219 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 25 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ARNT2 CL E G H | 9915 | 16876 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ARNT2 CL E G H | 9915 | 16876 | OMIM:615926 | Webb-Dattani syndrome | . | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ARSI CL E G H | 340075 | 32521 | ORPHA:401815 | Autosomal recessive spastic paraplegia type 66 | HP:0040282 - Frequent | | | 1 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ARX CL E G H | 170302 | 18060 | ORPHA:2508 | Corpus callosum agenesis-abnormal genitalia syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ARX CL E G H | 170302 | 18060 | OMIM:300004 | Corpus callosum, agenesis of, with abnormal genitalia | | | | 166 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 166 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ARX CL E G H | 170302 | 18060 | OMIM:300215 | Lissencephaly, X-linked, 2 | . | | | 166 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ARX CL E G H | 170302 | 18060 | ORPHA:452 | X-linked lissencephaly with abnormal genitalia | HP:0040281 - Very frequent | | | 166 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ASNS CL E G H | 440 | 753 | OMIM:615574 | Asparagine synthetase deficiency | . | | | 17 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ASPM CL E G H | 259266 | 19048 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 512 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ASPM CL E G H | 259266 | 19048 | OMIM:608716 | Microcephaly 5, primary, autosomal recessive | . | | | 512 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ASPM CL E G H | 259266 | 19048 | OMIM:608716 | Microcephaly 5, primary, autosomal recessive | . | | | 512 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | . | | | 145 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | . | | | 145 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ATL1 CL E G H | 51062 | 11231 | OMIM:182600 | Spastic paraplegia 3, autosomal dominant | HP:0040283 - Occasional | | | 71 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | . | | | 16 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:513436 | Autosomal recessive spastic paraplegia type 78 | HP:0040282 - Frequent | | | 100 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300423 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH | | | | 36 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | HP:0040283 - Occasional | | | 36 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ATP6V1A CL E G H | 523 | 851 | OMIM:617403 | Cutis laxa, autosomal recessive, type IID | . | | | 3 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ATP6V1A CL E G H | 523 | 851 | OMIM:618012 | Epileptic encephalopathy, infantile or early childhood, 3 | . | | | 3 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | . | | | 17 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | B4GAT1 CL E G H | 11041 | 15685 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 17 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | BICD2 CL E G H | 23299 | 17208 | OMIM:618291 | Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | . | | | 46 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | BMP4 CL E G H | 652 | 1071 | ORPHA:139471 | Microphthalmia with brain and digit anomalies | HP:0040283 - Occasional | | | 38 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | BRAT1 CL E G H | 221927 | 21701 | OMIM:618056 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | . | | | 20 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | . | | | 76 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | | | | 76 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | C12ORF57 CL E G H | 113246 | 29521 | OMIM:218340 | Temtamy syndrome | . | | | 13 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | | | | 27 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | HP:0040282 - Frequent | | | 27 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | C2CD3 CL E G H | 26005 | 24564 | OMIM:615948 | Orofaciodigital syndrome XIV | . | | | 27 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CARS1 CL E G H | 833 | 1493 | OMIM:618891 | MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CARS2 CL E G H | 79587 | 25695 | ORPHA:477774 | Combined oxidative phosphorylation defect type 27 | HP:0040283 - Occasional | | | 35 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CARS2 CL E G H | 79587 | 25695 | OMIM:616672 | Combined oxidative phosphorylation deficiency 27 | . | | | 35 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 118 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CC2D2A CL E G H | 57545 | 29253 | OMIM:619111 | COACH SYNDROME 2; COACH2 | | | | 247 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CCDC174 CL E G H | 51244 | 28033 | OMIM:616816 | Hypotonia, infantile, with psychomotor retardation | | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CCDC88A CL E G H | 55704 | 25523 | OMIM:617507 | Peho-Like syndrome | . | | | 1 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CDC40 CL E G H | 51362 | 17350 | OMIM:619302 | PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15 | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | . | | | 6 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CDK10 CL E G H | 8558 | 1770 | OMIM:617694 | Al Kaissi syndrome | HP:0040284 - Very rare | | | 2 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | HP:0040283 - Occasional | | | 8 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | . | | | 8 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CDK5 CL E G H | 1020 | 1774 | OMIM:616342 | Lissencephaly 7 with cerebellar hypoplasia | . | | | 3 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CDK5RAP2 CL E G H | 55755 | 18672 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 181 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CDK5RAP2 CL E G H | 55755 | 18672 | OMIM:604804 | Microcephaly 3, primary, autosomal recessive | | | | 181 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CDK6 CL E G H | 1021 | 1777 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 6 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CDK8 CL E G H | 1024 | 1779 | OMIM:618748 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 405 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CDON CL E G H | 50937 | 17104 | OMIM:614226 | Holoprosencephaly 11 | | | | 200 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CENPE CL E G H | 1062 | 1856 | OMIM:616051 | Microcephaly 13, primary, autosomal recessive | | | | 20 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | | | | 27 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CENPJ CL E G H | 55835 | 17272 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 161 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CEP120 CL E G H | 153241 | 26690 | OMIM:617761 | Joubert syndrome 31 | . | | | 7 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CEP120 CL E G H | 153241 | 26690 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 7 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CEP135 CL E G H | 9662 | 29086 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 38 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CEP152 CL E G H | 22995 | 29298 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 146 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CEP290 CL E G H | 80184 | 29021 | OMIM:611134 | Meckel syndrome, type 4 | | | | 342 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CEP41 CL E G H | 95681 | 12370 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 90 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CEP63 CL E G H | 80254 | 25815 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 31 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CFC1 CL E G H | 55997 | 18292 | OMIM:605376 | Heterotaxy, visceral, 2, autosomal | | | | 13 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CHMP1A CL E G H | 5119 | 8740 | OMIM:614961 | Pontocerebellar hypoplasia, type 8 | . | | | 19 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CIT CL E G H | 11113 | 1985 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 15 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CIT CL E G H | 11113 | 1985 | OMIM:617090 | Microcephaly 17, primary, autosomal recessive | . | | | 15 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619517 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA | | | | 2 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CLCN4 CL E G H | 1183 | 2022 | ORPHA:485350 | CLCN4-related X-linked intellectual disability syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CLCN4 CL E G H | 1183 | 2022 | OMIM:300114 | Raynaud-Claes syndrome | | | | 45 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CLP1 CL E G H | 10978 | 16999 | OMIM:615803 | Pontocerebellar hypoplasia, type 10 | . | | | 7 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CNOT1 CL E G H | 23019 | 7877 | ORPHA:556955 | Pancreatic agenesis-holoprosencephaly syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CNOT3 CL E G H | 4849 | 7879 | OMIM:618672 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CNP CL E G H | 1267 | 2158 | OMIM:619071 | LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20 | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:616286 | Lethal congenital contracture syndrome 7 | . | | | 9 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:618186 | Neuropathy, congenital hypomyelinating, 3 | . | | | 9 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | COASY CL E G H | 80347 | 29932 | OMIM:615643 | Neurodegeneration with brain iron accumulation 6 | . | | | 16 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | COG2 CL E G H | 22796 | 6546 | ORPHA:435934 | COG2-CDG | HP:0040281 - Very frequent | | | 2 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | COG2 CL E G H | 22796 | 6546 | OMIM:617395 | Congenital disorder of glycosylation, type IIq | . | | | 2 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | HP:0040283 - Occasional | | | 67 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | COG4 CL E G H | 25839 | 18620 | OMIM:613489 | Congenital disorder of glycosylation, type IIj | HP:0040283 - Occasional | | | 67 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | . | | | 64 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | COL4A1 CL E G H | 1282 | 2202 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 193 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | COPB2 CL E G H | 9276 | 2232 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | COPB2 CL E G H | 9276 | 2232 | OMIM:617800 | Microcephaly 19, primary, autosomal recessive | . | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | COX7B CL E G H | 1349 | 2291 | OMIM:300887 | Linear skin defects with multiple congenital anomalies 2 | HP:0040283 - Occasional | | | 6 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | COX7B CL E G H | 1349 | 2291 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | COX7B CL E G H | 1349 | 2291 | OMIM:309801 | Microphthalmia, syndromic 7 | . | | | 6 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | HP:0040282 - Frequent | | | 101 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | . | | | 101 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CRIPT CL E G H | 9419 | 14312 | OMIM:615789 | Short stature with microcephaly and distinctive facies | | | | 4 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CRPPA CL E G H | 729920 | 37276 | OMIM:614643 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | . | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CRPPA CL E G H | 729920 | 37276 | OMIM:614643 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CRPPA CL E G H | 729920 | 37276 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CSF1R CL E G H | 1436 | 2433 | OMIM:618476 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | . | | | 149 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CSPP1 CL E G H | 79848 | 26193 | OMIM:615636 | Joubert syndrome 21 | . | | | 57 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CTNNA2 CL E G H | 1496 | 2510 | OMIM:618174 | Cortical dysplasia, complex, with other brain malformations 9 | . | | | 2 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:615075 | Neurodevelopmental disorder with spastic diplegia and visual defects | . | | | 88 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:404473 | Severe intellectual disability-progressive spastic diplegia syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CTU2 CL E G H | 348180 | 28005 | OMIM:618142 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | | | | 1 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CTU2 CL E G H | 348180 | 28005 | OMIM:618142 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | HP:0040283 - Occasional | | | 38 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CWF19L1 CL E G H | 55280 | 25613 | ORPHA:453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | HP:0040283 - Occasional | | | 9 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:168558 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CYP2U1 CL E G H | 113612 | 20582 | ORPHA:320411 | Autosomal recessive spastic paraplegia type 56 | HP:0040283 - Occasional | | | 18 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | CYP2U1 CL E G H | 113612 | 20582 | OMIM:615030 | Spastic paraplegia 56, autosomal recessive | HP:0040283 - Occasional | | | 18 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | CYTB CL E G H | 4519 | 7427 | ORPHA:137675 | Histiocytoid cardiomyopathy | HP:0040284 - Very rare | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | DAG1 CL E G H | 1605 | 2666 | ORPHA:370997 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | HP:0040282 - Frequent | | | 108 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | DAG1 CL E G H | 1605 | 2666 | OMIM:616538 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 | . | | | 108 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DAG1 CL E G H | 1605 | 2666 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 108 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | DARS1 CL E G H | 1615 | 2678 | OMIM:615281 | HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | DARS2 CL E G H | 55157 | 25538 | ORPHA:137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | HP:0040284 - Very rare | | | 60 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DCC CL E G H | 1630 | 2701 | ORPHA:238722 | Familial congenital mirror movements | HP:0040283 - Occasional | | | 36 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DCC CL E G H | 1630 | 2701 | OMIM:617542 | GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2 | | | | 36 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DCC CL E G H | 1630 | 2701 | OMIM:157600 | Mirror movements 1 | HP:0040284 - Very rare | | | 36 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DCHS1 CL E G H | 8642 | 13681 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | DCHS1 CL E G H | 8642 | 13681 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | . | | | 27 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | DCX CL E G H | 1641 | 2714 | ORPHA:2148 | Lissencephaly type 1 due to doublecortin gene mutation | HP:0040283 - Occasional | | | 145 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DCX CL E G H | 1641 | 2714 | OMIM:300067 | Lissencephaly, X-linked, 1 | . | | | 145 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | DDHD2 CL E G H | 23259 | 29106 | ORPHA:320380 | Autosomal recessive spastic paraplegia type 54 | HP:0040282 - Frequent | | | 29 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | DDHD2 CL E G H | 23259 | 29106 | OMIM:615033 | Spastic paraplegia 54, autosomal recessive | . | | | 29 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | DDX3X CL E G H | 1654 | 2745 | OMIM:300958 | MENTAL RETARDATION, X-LINKED 102; MRX102 | | | | 57 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | DDX3X CL E G H | 1654 | 2745 | ORPHA:457260 | X-linked intellectual disability-hypotonia-movement disorder syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | HP:0040283 - Occasional | | | 2 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | HP:0040283 - Occasional | | | 2 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DHCR24 CL E G H | 1718 | 2859 | ORPHA:35107 | Desmosterolosis | HP:0040281 - Very frequent | | | 72 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DHCR24 CL E G H | 1718 | 2859 | OMIM:602398 | DESMOSTEROLOSIS | | | | 72 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | DIAPH1 CL E G H | 1729 | 2876 | OMIM:616632 | Seizures, cortical blindness, and microcephaly syndrome | . | | | 118 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DIS3L2 CL E G H | 129563 | 28648 | OMIM:267000 | Perlman syndrome | . | | | 164 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DISC1 CL E G H | 27185 | 2888 | ORPHA:171703 | Microcephaly-polymicrogyria-corpus callosum agenesis syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DNAL4 CL E G H | 10126 | 2955 | ORPHA:238722 | Familial congenital mirror movements | HP:0040283 - Occasional | | | 2 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | DOCK7 CL E G H | 85440 | 19190 | ORPHA:411986 | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | DOCK7 CL E G H | 85440 | 19190 | OMIM:615859 | Epileptic encephalopathy, early infantile, 23 | . | | | 11 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040283 - Occasional | | | 38 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DPH1 CL E G H | 1801 | 3003 | ORPHA:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DPYD CL E G H | 1806 | 3012 | OMIM:274270 | Dihydropyrimidine dehydrogenase deficiency | HP:0040283 - Occasional | | | 144 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:614563 | Mental retardation, autosomal dominant 13 | HP:0040283 - Occasional | | | 427 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DYNC1I2 CL E G H | 1781 | 2964 | OMIM:618492 | Neurodevelopmental disorder with microcephaly and structural brain anomalies | | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | DYNC1I2 CL E G H | 1781 | 2964 | OMIM:618492 | Neurodevelopmental disorder with microcephaly and structural brain anomalies | | | | 1 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DYNC2H1 CL E G H | 79659 | 2962 | OMIM:613091 | Asphyxiating thoracic dystrophy 3 | HP:0040283 - Occasional | | | 304 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | 304 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040283 - Occasional | | | 134 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | HP:0040283 - Occasional | | | 134 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | EARS2 CL E G H | 124454 | 29419 | OMIM:614924 | Combined oxidative phosphorylation deficiency 12 | . | | | 80 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | EBP CL E G H | 10682 | 3133 | ORPHA:401973 | MEND syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | HP:0040283 - Occasional | | | 27 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | . | | | 27 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | . | | | 27 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | HP:0040283 - Occasional | | | 223 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040283 - Occasional | | | 223 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | EIF2AK2 CL E G H | 5610 | 9437 | OMIM:618877 | LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | . | | | 8 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | EMC1 CL E G H | 23065 | 28957 | OMIM:616875 | Cerebellar atrophy, visual impairment, and psychomotor retardation | . | | | 5 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | EML1 CL E G H | 2009 | 3330 | OMIM:600348 | Band heterotopia | . | | | 3 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | EMX2 CL E G H | 2018 | 3341 | OMIM:269160 | SCHIZENCEPHALY | | | | 7 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | EOMES CL E G H | 8320 | 3372 | ORPHA:171703 | Microcephaly-polymicrogyria-corpus callosum agenesis syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | EPG5 CL E G H | 57724 | 29331 | ORPHA:1493 | Vici syndrome | HP:0040281 - Very frequent | | | 40 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | . | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ERCC5 CL E G H | 2073 | 3437 | OMIM:616570 | Cerebrooculofacioskeletal syndrome 3 | | | | 83 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | . | | | 199 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:209951 | Autosomal recessive spastic paraplegia type 18 | HP:0040282 - Frequent | | | 18 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ERLIN2 CL E G H | 11160 | 1356 | OMIM:611225 | Spastic paraplegia 18, autosomal recessive | HP:0040283 - Occasional | | | 18 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ERMARD CL E G H | 55780 | 21056 | ORPHA:75857 | 6q terminal deletion syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | EXOC7 CL E G H | 23265 | 23214 | OMIM:619072 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | EXOC8 CL E G H | 149371 | 24659 | OMIM:619076 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB | | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | EXOSC1 CL E G H | 51013 | 17286 | OMIM:619304 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | EXOSC8 CL E G H | 11340 | 17035 | OMIM:616081 | Pontocerebellar hypoplasia, type 1C | . | | | 4 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | HP:0040282 - Frequent | | | 76 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | FA2H CL E G H | 79152 | 21197 | ORPHA:329308 | Fatty acid hydroxylase-associated neurodegeneration | HP:0040282 - Frequent | | | 76 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | FA2H CL E G H | 79152 | 21197 | OMIM:612319 | Spastic paraplegia 35, autosomal recessive | . | | | 76 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | . | | | 157 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FAT4 CL E G H | 79633 | 23109 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | FAT4 CL E G H | 79633 | 23109 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | . | | | 114 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | FBXL4 CL E G H | 26235 | 13601 | OMIM:615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | . | | | 384 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | FBXW11 CL E G H | 23291 | 13607 | OMIM:618914 | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FCSK CL E G H | 197258 | 29500 | OMIM:618324 | Congenital disorder of glycosylation with defective fucosylation 2 | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | FDFT1 CL E G H | 2222 | 3629 | OMIM:618156 | SQUALENE SYNTHASE DEFICIENCY; SQSD | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | FDXR CL E G H | 2232 | 3642 | ORPHA:543470 | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040282 - Frequent | | | 172 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:613001 | Encephalocraniocutaneous lipomatosis | . | | | 172 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:613001 | Encephalocraniocutaneous lipomatosis | . | | | 172 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:615465 | Hartsfield syndrome | . | | | 172 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:147950 | Hypogonadotropic hypogonadism 2 with or without anosmia | HP:0040283 - Occasional | | | 172 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | 172 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | . | | | 175 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:87 | Apert syndrome | HP:0040282 - Frequent | | | 175 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123790 | Beare-Stevenson cutis gyrata syndrome | . | | | 175 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:616482 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | . | | | 145 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:85165 | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | HP:0040281 - Very frequent | | | 145 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FH CL E G H | 2271 | 3700 | OMIM:606812 | Fumarase deficiency | . | | | 301 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | . | | | 111 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 157 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 157 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 157 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 157 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:613153 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | | | | 157 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 157 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 184 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 184 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FKTN CL E G H | 2218 | 3622 | OMIM:253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | . | | | 184 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FKTN CL E G H | 2218 | 3622 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 184 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | FLCN CL E G H | 201163 | 27310 | OMIM:610883 | Potocki-Lupski syndrome | . | | | 332 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | FLNA CL E G H | 2316 | 3754 | ORPHA:555877 | FLNA-related X-linked myxomatous valvular dysplasia | | | | 493 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:300049 | Heterotopia, periventricular, X-linked dominant | | | | 493 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FLVCR2 CL E G H | 55640 | 20105 | OMIM:225790 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | . | | | 47 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FOXG1 CL E G H | 2290 | 3811 | ORPHA:261144 | FOXG1 syndrome due to 14q12 microdeletion | HP:0040282 - Frequent | | | 177 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | FOXG1 CL E G H | 2290 | 3811 | OMIM:613454 | Rett syndrome, congenital variant | | | | 177 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FRMD4A CL E G H | 55691 | 25491 | OMIM:616819 | Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | | | | 1 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FRMD4A CL E G H | 55691 | 25491 | ORPHA:466688 | Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | FRMPD4 CL E G H | 9758 | 29007 | OMIM:300983 | MENTAL RETARDATION, X-LINKED 104; MRX104 | | | | 32 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | FUZ CL E G H | 80199 | 26219 | ORPHA:1136 | Arnold-Chiari malformation type II | HP:0040284 - Very rare | | | 3 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GABRA5 CL E G H | 2558 | 4079 | OMIM:618559 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79 | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GABRB1 CL E G H | 2560 | 4081 | OMIM:617153 | Epileptic encephalopathy, early infantile, 45 | . | | | 3 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GAD1 CL E G H | 2571 | 4092 | OMIM:619124 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89 | | | | 44 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | . | | | 30 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GCSH CL E G H | 2653 | 4208 | OMIM:605899 | Glycine encephalopathy | . | | | 5 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GDF1 CL E G H | 2657 | 4214 | OMIM:208530 | Right atrial isomerism (Ivemark) | . | | | 28 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GFER CL E G H | 2671 | 4236 | ORPHA:330054 | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GFM1 CL E G H | 85476 | 13780 | OMIM:609060 | Combined oxidative phosphorylation deficiency 1 | | | | 85 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | HP:0040283 - Occasional | | | 43 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GJC2 CL E G H | 57165 | 17494 | OMIM:613206 | Spastic paraplegia 44, autosomal recessive | | | | 37 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GLDC CL E G H | 2731 | 4313 | OMIM:605899 | Glycine encephalopathy | . | | | 166 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 173 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:380 | Greig cephalopolysyndactyly syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GLRX5 CL E G H | 51218 | 20134 | OMIM:616859 | Spasticity, childhood-onset, with hyperglycinemia | | | | 17 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GLUL CL E G H | 2752 | 4341 | OMIM:610015 | GLUTAMINE DEFICIENCY, CONGENITAL | | | | 98 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GLYCTK CL E G H | 132158 | 24247 | ORPHA:941 | D-glyceric aciduria | HP:0040283 - Occasional | | | 6 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 34 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 34 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 36 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GNAO1 CL E G H | 2775 | 4389 | OMIM:615473 | Epileptic encephalopathy, early infantile, 17 | . | | | 36 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GNAO1 CL E G H | 2775 | 4389 | OMIM:617493 | Neurodevelopmental disorder with involuntary movements | . | | | 36 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GOT2 CL E G H | 2806 | 4433 | OMIM:618721 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82 | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040283 - Occasional | | | 73 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GPSM2 CL E G H | 29899 | 29501 | OMIM:604213 | CHUDLEY-MCCULLOUGH SYNDROME; CMCS | | | | 74 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GPSM2 CL E G H | 29899 | 29501 | OMIM:604213 | CHUDLEY-MCCULLOUGH SYNDROME; CMCS | | | | 74 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GPT2 CL E G H | 84706 | 18062 | OMIM:616281 | Mental retardation, autosomal recessive 49 | HP:0040283 - Occasional | | | 4 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GPT2 CL E G H | 84706 | 18062 | ORPHA:477673 | Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GPX4 CL E G H | 2879 | 4556 | ORPHA:93317 | Spondylometaphyseal dysplasia, Sedaghatian type | HP:0040283 - Occasional | | | 3 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GRIA3 CL E G H | 2892 | 4573 | ORPHA:364028 | X-linked intellectual disability due to GRIA3 mutations | HP:0040283 - Occasional | | | 30 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GRIA4 CL E G H | 2893 | 4574 | OMIM:617864 | Neurodevelopmental disorder with or without seizures and gait abnormalities | . | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:208447 | Bilateral generalized polymicrogyria | HP:0040283 - Occasional | | | 108 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GRIN1 CL E G H | 2902 | 4584 | OMIM:614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | . | | | 108 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GRIN1 CL E G H | 2902 | 4584 | OMIM:617820 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | HP:0040284 - Very rare | | | 108 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:289266 | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | HP:0040283 - Occasional | | | 434 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:163721 | Rolandic epilepsy-speech dyspraxia syndrome | HP:0040283 - Occasional | | | 434 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 5 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | HACE1 CL E G H | 57531 | 21033 | OMIM:616756 | Spastic paraplegia and psychomotor retardation with or without seizures | HP:0040283 - Occasional | | | 10 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | HACE1 CL E G H | 57531 | 21033 | ORPHA:464282 | Spastic paraplegia-severe developmental delay-epilepsy syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | HCCS CL E G H | 3052 | 4837 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | HCCS CL E G H | 3052 | 4837 | OMIM:309801 | Microphthalmia, syndromic 7 | . | | | 11 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 21 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 21 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | 21 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | HESX1 CL E G H | 8820 | 4877 | OMIM:182230 | Septooptic dysplasia | . | | | 21 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | HIBCH CL E G H | 26275 | 4908 | OMIM:250620 | 3-Hydroxyisobutyryl-Coa hydrolase deficiency | . | | | 32 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | HIC1 CL E G H | 3090 | 4909 | ORPHA:531 | Miller-Dieker syndrome | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | HP:0040283 - Occasional | | | 13 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | HK1 CL E G H | 3098 | 4922 | OMIM:618547 | NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA | | | | 11 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040283 - Occasional | | | 8 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040283 - Occasional | | | 8 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040283 - Occasional | | | 8 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040283 - Occasional | | | 8 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | HNRNPU CL E G H | 3192 | 5048 | ORPHA:238769 | 1q44 microdeletion syndrome | HP:0040281 - Very frequent | | | 39 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | HSPA9 CL E G H | 3313 | 5244 | OMIM:616854 | Even-Plus syndrome | . | | | 6 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 345 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | HTRA2 CL E G H | 27429 | 14348 | OMIM:617248 | 3-methylglutaconic aciduria, type VIII | . | | | 39 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | | | | 98 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:2189 | Hydrolethalus | HP:0040281 - Very frequent | | | 31 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | | | | 31 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | IBA57 CL E G H | 200205 | 27302 | ORPHA:468661 | Autosomal recessive spastic paraplegia type 74 | HP:0040284 - Very rare | | | 16 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | IBA57 CL E G H | 200205 | 27302 | OMIM:615330 | Multiple mitochondrial dysfunctions syndrome 3 | . | | | 16 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | IER3IP1 CL E G H | 51124 | 18550 | OMIM:614231 | Microcephaly, epilepsy, and diabetes syndrome | . | | | 6 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | IFT52 CL E G H | 51098 | 15901 | OMIM:617102 | Short-Rib thoracic dysplasia 16 with or without polydactyly | . | | | 4 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | 65 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | IGBP1 CL E G H | 3476 | 5461 | ORPHA:52055 | Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | IGBP1 CL E G H | 3476 | 5461 | OMIM:300472 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA | | | | 5 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | . | | | 268 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 111 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040283 - Occasional | | | 283 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040283 - Occasional | | | 283 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | . | | | 283 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040283 - Occasional | | | 283 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040283 - Occasional | | | 283 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | KAT6B CL E G H | 23522 | 17582 | ORPHA:85201 | Genitopatellar syndrome | HP:0040282 - Frequent | | | 141 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | KAT6B CL E G H | 23522 | 17582 | OMIM:606170 | Genitopatellar syndrome | . | | | 141 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | KAT8 CL E G H | 84148 | 17933 | OMIM:618974 | LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | KATNB1 CL E G H | 10300 | 6217 | OMIM:616212 | Lissencephaly 6, with microcephaly | | | | 10 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | KATNB1 CL E G H | 10300 | 6217 | OMIM:616212 | Lissencephaly 6, with microcephaly | . | | | 10 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | KATNB1 CL E G H | 10300 | 6217 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040283 - Occasional | | | 10 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | KATNB1 CL E G H | 10300 | 6217 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040283 - Occasional | | | 10 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 145 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | KCNK4 CL E G H | 50801 | 6279 | OMIM:618381 | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | HP:0040284 - Very rare | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | KCNQ2 CL E G H | 3785 | 6296 | OMIM:613720 | Epileptic encephalopathy, early infantile, 7 | HP:0040283 - Occasional | | | 528 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:439218 | KCNQ2-related epileptic encephalopathy | HP:0040283 - Occasional | | | 528 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | KCNT1 CL E G H | 57582 | 18865 | OMIM:614959 | Epileptic encephalopathy, early infantile, 14 | . | | | 321 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | KCNT2 CL E G H | 343450 | 18866 | OMIM:617771 | Epileptic encephalopathy, early infantile, 57 | . | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | KCTD7 CL E G H | 154881 | 21957 | OMIM:611726 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions | | | | 106 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | KDM1A CL E G H | 23028 | 29079 | OMIM:616728 | Cleft palate, psychomotor retardation, and distinctive facial features | | | | 3 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | KDM1A CL E G H | 23028 | 29079 | ORPHA:477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | KDM5B CL E G H | 10765 | 18039 | OMIM:618109 | Mental retardation, autosomal recessive 65 | | | | 2 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | KDM5B CL E G H | 10765 | 18039 | OMIM:618109 | Mental retardation, autosomal recessive 65 | . | | | 2 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:617127 | Orofaciodigital syndrome XV | . | | | 4 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619479 | SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21 | | | | 4 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | KIDINS220 CL E G H | 57498 | 29508 | OMIM:617296 | SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO | | | | 4 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | KIDINS220 CL E G H | 57498 | 29508 | ORPHA:521390 | Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | KIDINS220 CL E G H | 57498 | 29508 | OMIM:619501 | VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG | | | | 4 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | KIF14 CL E G H | 9928 | 19181 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 9 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | KIF14 CL E G H | 9928 | 19181 | OMIM:616258 | Meckel syndrome 12 | . | | | 9 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | KIF2A CL E G H | 3796 | 6318 | OMIM:615411 | Cortical dysplasia, complex, with other brain malformations 3 | . | | | 15 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | KIF5C CL E G H | 3800 | 6325 | OMIM:615282 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2 | | | | 18 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | . | | | 167 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:607131 | Al-Gazali-Bakalinova syndrome | | | | 167 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:607131 | Al-Gazali-Bakalinova syndrome | . | | | 167 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2189 | Hydrolethalus | HP:0040281 - Very frequent | | | 167 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:614120 | Hydrolethalus syndrome 2 | . | | | 167 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | KIF7 CL E G H | 374654 | 30497 | ORPHA:166024 | Multiple epiphyseal dysplasia, Al-Gazali type | HP:0040282 - Frequent | | | 167 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | KIF7 CL E G H | 374654 | 30497 | ORPHA:166024 | Multiple epiphyseal dysplasia, Al-Gazali type | HP:0040282 - Frequent | | | 167 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | KIFBP CL E G H | 26128 | 23419 | ORPHA:66629 | Goldberg-Shprintzen megacolon syndrome | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | . | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | KMT2C CL E G H | 58508 | 13726 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040283 - Occasional | | | 99 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | KNL1 CL E G H | 57082 | 24054 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 112 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040282 - Frequent | | | 196 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:3339 | Toriello-Lacassie-Droste syndrome | HP:0040281 - Very frequent | | | 196 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | L1CAM CL E G H | 3897 | 6470 | OMIM:304100 | Corpus callosum, partial agenesis of, X-linked | | | | 134 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | L1CAM CL E G H | 3897 | 6470 | OMIM:307000 | Hydrocephalus due to congenital stenosis of aqueduct of sylvius | . | | | 134 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | L1CAM CL E G H | 3897 | 6470 | ORPHA:2182 | Hydrocephalus with stenosis of the aqueduct of Sylvius | HP:0040283 - Occasional | | | 134 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | L1CAM CL E G H | 3897 | 6470 | ORPHA:2466 | MASA syndrome | HP:0040283 - Occasional | | | 134 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | L1CAM CL E G H | 3897 | 6470 | OMIM:303350 | MASA syndrome | . | | | 134 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | LAMB1 CL E G H | 3912 | 6486 | OMIM:615191 | Lissencephaly 5 | | | | 71 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 136 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 136 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 136 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 136 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 51 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 43 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 43 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | LMNB1 CL E G H | 4001 | 6637 | OMIM:619179 | MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26 | | | | 44 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | LNPK CL E G H | 80856 | 21610 | OMIM:618090 | Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum | . | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | . | | | 8 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | LONP1 CL E G H | 9361 | 9479 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | HP:0040283 - Occasional | | | 8 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | LONP1 CL E G H | 9361 | 9479 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | HP:0040283 - Occasional | | | 8 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | LRRC32 CL E G H | 2615 | 4161 | OMIM:619074 | CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | LSS CL E G H | 4047 | 6708 | OMIM:618840 | ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4 | | | | 2 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | MACF1 CL E G H | 23499 | 13664 | OMIM:618325 | Lissencephaly 9 with complex brainstem malformation | . | | | 2 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | MAN2C1 CL E G H | 4123 | 6827 | OMIM:619775 | CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2 | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | MAP1B CL E G H | 4131 | 6836 | OMIM:618918 | PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9 | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | . | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | MAPKAPK5 CL E G H | 8550 | 6889 | OMIM:619869 | | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | . | | | 4 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | . | | | 22 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | MCM7 CL E G H | 4176 | 6950 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | MCPH1 CL E G H | 79648 | 6954 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 155 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | MDH1 CL E G H | 4190 | 6970 | OMIM:618959 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88 | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:309520 | Lujan-Fryns syndrome | . | | | 228 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:305450 | Opitz-Kaveggia syndrome | | | | 228 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | MED25 CL E G H | 81857 | 28845 | OMIM:616449 | Basel-Vanagaite-Smirin-Yosef syndrome | . | | | 43 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | MEF2C CL E G H | 4208 | 6996 | ORPHA:228384 | 5q14.3 microdeletion syndrome | HP:0040282 - Frequent | | | 132 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | METTL5 CL E G H | 29081 | 25006 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | MFSD2A CL E G H | 84879 | 25897 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 5 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | MFSD2A CL E G H | 84879 | 25897 | OMIM:616486 | Microcephaly 15, primary, autosomal recessive | . | | | 5 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | MID1 CL E G H | 4281 | 7095 | ORPHA:2745 | Opitz GBBB syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | MID1 CL E G H | 4281 | 7095 | ORPHA:2745 | Opitz GBBB syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | MID1 CL E G H | 4281 | 7095 | OMIM:300000 | Opitz gbbb syndrome, type I | . | | | 57 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040282 - Frequent | | | 3 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | MKS1 CL E G H | 54903 | 7121 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 127 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | . | | | 127 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | | | | 1819 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | MOCS1 CL E G H | 4337 | 7190 | OMIM:252150 | Molybdenum cofactor deficiency, complementation group A | . | | | 96 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | MOCS2 CL E G H | 4338 | 7193 | OMIM:252160 | Molybdenum cofactor deficiency, complementation group B | . | | | 26 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | MOGS CL E G H | 7841 | 24862 | OMIM:606056 | Congenital disorder of glycosylation, type IIB | . | | | 37 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | MOGS CL E G H | 7841 | 24862 | ORPHA:79330 | MOGS-CDG | HP:0040283 - Occasional | | | 37 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | MPLKIP CL E G H | 136647 | 16002 | OMIM:234050 | Trichothiodystrophy 4, nonphotosensitive | | | | 9 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | MRPS16 CL E G H | 51021 | 14048 | OMIM:610498 | Combined oxidative phosphorylation deficiency 2 | . | | | 60 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | MRPS22 CL E G H | 56945 | 14508 | OMIM:611719 | Combined oxidative phosphorylation deficiency 5 | . | | | 25 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | MRPS25 CL E G H | 64432 | 14511 | OMIM:619025 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50 | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563612 | Isolated exencephaly | HP:0040282 - Frequent | | | 183 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | MTRFR CL E G H | 91574 | 26784 | ORPHA:320375 | Autosomal recessive spastic paraplegia type 55 | HP:0040282 - Frequent | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | MTRFR CL E G H | 91574 | 26784 | ORPHA:254930 | Combined oxidative phosphorylation defect type 7 | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | MTRFR CL E G H | 91574 | 26784 | OMIM:615035 | Spastic paraplegia 55, autosomal recessive | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | NADK2 CL E G H | 133686 | 26404 | ORPHA:431361 | Progressive encephalopathy with leukodystrophy due to DECR deficiency | HP:0040282 - Frequent | | | 14 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040283 - Occasional | | | 48 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | NANS CL E G H | 54187 | 19237 | OMIM:610442 | Spondyloepimetaphyseal dysplasia, Genevieve type | HP:0040283 - Occasional | | | 8 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | NARS1 CL E G H | 4677 | 7643 | OMIM:619091 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | NARS2 CL E G H | 79731 | 26274 | OMIM:616239 | Combined oxidative phosphorylation deficiency 24 | . | | | 34 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | NARS2 CL E G H | 79731 | 26274 | OMIM:616239 | Combined oxidative phosphorylation deficiency 24 | . | | | 34 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | NCAPD3 CL E G H | 23310 | 28952 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | NDE1 CL E G H | 54820 | 17619 | OMIM:614019 | Lissencephaly 4 | . | | | 96 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | NDE1 CL E G H | 54820 | 17619 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040283 - Occasional | | | 96 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | NDE1 CL E G H | 54820 | 17619 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040283 - Occasional | | | 96 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | NDE1 CL E G H | 54820 | 17619 | OMIM:605013 | MICROHYDRANENCEPHALY | . | | | 96 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | NDUFA2 CL E G H | 4695 | 7685 | OMIM:618235 | Mitochondrial complex I deficiency, nuclear type 13 | . | | | 19 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | NDUFAF5 CL E G H | 79133 | 15899 | OMIM:618238 | Mitochondrial complex I deficiency, nuclear type 16 | | | | 34 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:300952 | Linear skin defects with multiple congenital anomalies 3 | . | | | 3 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:309801 | Microphthalmia, syndromic 7 | . | | | 3 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | NEDD4L CL E G H | 23327 | 7728 | OMIM:617201 | Periventricular nodular heterotopia 7 | HP:0040283 - Occasional | | | 30 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | NEUROD2 CL E G H | 4761 | 7763 | OMIM:618374 | Epileptic encephalopathy, early infantile, 72 | . | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | NEXMIF CL E G H | 340533 | 29433 | ORPHA:85277 | X-linked intellectual disability, Cantagrel type | HP:0040282 - Frequent | | | 52 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | HP:0040283 - Occasional | | | 1952 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | NFIA CL E G H | 4774 | 7784 | OMIM:613735 | Brain malformations with or without urinary tract defects | . | | | 12 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | NFIA CL E G H | 4774 | 7784 | OMIM:613735 | Brain malformations with or without urinary tract defects | . | | | 12 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | NFIX CL E G H | 4784 | 7788 | ORPHA:420179 | Malan overgrowth syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | . | | | 40 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | NFIX CL E G H | 4784 | 7788 | OMIM:614753 | Sotos syndrome 2 | | | | 40 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | . | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:209905 | Brain-lung-thyroid syndrome | HP:0040284 - Very rare | | | 51 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | NKX6-2 CL E G H | 84504 | 19321 | ORPHA:527497 | NKX6-2-related autosomal recessive hypomyelinating leukodystrophy | HP:0040284 - Very rare | | | 2 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | NOVA2 CL E G H | 4858 | 7887 | OMIM:618859 | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040283 - Occasional | | | 85 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | NR2F1 CL E G H | 7025 | 7975 | ORPHA:401777 | Optic atrophy-intellectual disability syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | NRROS CL E G H | 375387 | 24613 | OMIM:618875 | SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC | | | | 1 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 118 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | NT5C2 CL E G H | 22978 | 8022 | OMIM:613162 | Spastic paraplegia 45, autosomal recessive | . | | | 15 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | NTN1 CL E G H | 9423 | 8029 | ORPHA:238722 | Familial congenital mirror movements | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | NUP188 CL E G H | 23511 | 17859 | OMIM:618804 | SANDESTIG-STEFANOVA SYNDROME; SANDSTEF | | | | 4 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040282 - Frequent | | | 121 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | . | | | 201 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040283 - Occasional | | | 201 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | OGDHL CL E G H | 55753 | 25590 | OMIM:619701 | YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN | | | | 3 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | OSGEP CL E G H | 55644 | 18028 | OMIM:617729 | Galloway-Mowat syndrome 3 | . | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | OSTM1 CL E G H | 28962 | 21652 | ORPHA:85179 | Infantile osteopetrosis with neuroaxonal dysplasia | HP:0040282 - Frequent | | | 73 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | OTUD6B CL E G H | 51633 | 24281 | OMIM:617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | | | | 4 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | OTX2 CL E G H | 5015 | 8522 | ORPHA:990 | Agnathia-holoprosencephaly-situs inversus syndrome | HP:0040281 - Very frequent | | | 41 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 41 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | OTX2 CL E G H | 5015 | 8522 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | 41 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:217385 | 17p13.3 microduplication syndrome | HP:0040283 - Occasional | | | 231 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:95232 | Lissencephaly due to LIS1 mutation | HP:0040282 - Frequent | | | 231 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:531 | Miller-Dieker syndrome | HP:0040283 - Occasional | | | 231 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | HP:0040283 - Occasional | | | 641 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PARS2 CL E G H | 25973 | 30563 | OMIM:618437 | Epileptic encephalopathy, early infantile, 75 | | | | 14 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PAX6 CL E G H | 5080 | 8620 | OMIM:106210 | Aniridia | . | | | 194 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | . | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PCLO CL E G H | 27445 | 13406 | OMIM:608027 | Pontocerebellar hypoplasia, type 3 | . | | | 6 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PCNT CL E G H | 5116 | 16068 | ORPHA:2637 | Microcephalic osteodysplastic primordial dwarfism type II | HP:0040283 - Occasional | | | 531 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PDE6D CL E G H | 5147 | 8788 | OMIM:615665 | Joubert syndrome 22 | | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | HP:0040283 - Occasional | | | 88 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | HP:0040283 - Occasional | | | 88 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PDHA1 CL E G H | 5160 | 8806 | OMIM:312170 | Pyruvate dehydrogenase e1-alpha deficiency | . | | | 88 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PDHB CL E G H | 5162 | 8808 | ORPHA:255138 | Pyruvate dehydrogenase E1-beta deficiency | HP:0040282 - Frequent | | | 37 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PDHB CL E G H | 5162 | 8808 | ORPHA:255138 | Pyruvate dehydrogenase E1-beta deficiency | HP:0040283 - Occasional | | | 37 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PDHB CL E G H | 5162 | 8808 | OMIM:614111 | PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD | | | | 37 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PDHX CL E G H | 8050 | 21350 | ORPHA:255182 | Pyruvate dehydrogenase E3-binding protein deficiency | HP:0040283 - Occasional | | | 98 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PDHX CL E G H | 8050 | 21350 | OMIM:245349 | Pyruvate dehydrogenase e3-binding protein deficiency | | | | 98 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PDHX CL E G H | 8050 | 21350 | ORPHA:255182 | Pyruvate dehydrogenase E3-binding protein deficiency | HP:0040283 - Occasional | | | 98 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PDYN CL E G H | 5173 | 8820 | OMIM:610245 | Spinocerebellar ataxia 23 | HP:0040283 - Occasional | | | 52 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PGAP1 CL E G H | 80055 | 25712 | ORPHA:401820 | Autosomal recessive spastic paraplegia type 67 | HP:0040282 - Frequent | | | 20 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PGAP1 CL E G H | 80055 | 25712 | OMIM:615802 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 | | | | 20 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PGAP1 CL E G H | 80055 | 25712 | OMIM:615802 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 | | | | 20 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PHC1 CL E G H | 1911 | 3182 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 16 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PHGDH CL E G H | 26227 | 8923 | ORPHA:79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | HP:0040283 - Occasional | | | 37 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | . | | | 37 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:2461 | Marden-Walker syndrome | HP:0040283 - Occasional | | | 77 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:248700 | Marden-Walker syndrome | . | | | 77 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | . | | | 46 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PIGB CL E G H | 9488 | 8959 | OMIM:618580 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80 | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PIGG CL E G H | 54872 | 25985 | ORPHA:488635 | Early-onset epilepsy-intellectual disability-brain anomalies syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PIGG CL E G H | 54872 | 25985 | OMIM:616917 | Mental retardation, autosomal recessive 53 | | | | 7 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PIGP CL E G H | 51227 | 3046 | OMIM:617599 | Epileptic encephalopathy, early infantile, 55 | . | | | 2 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PIGU CL E G H | 128869 | 15791 | OMIM:618590 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PIK3R2 CL E G H | 5296 | 8980 | OMIM:603387 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome | . | | | 12 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PITX1 CL E G H | 5307 | 9004 | OMIM:119800 | CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF | | | | 8 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | | | | 3 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | HP:0040282 - Frequent | | | 3 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PLCH1 CL E G H | 23007 | 29185 | OMIM:619895 | | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PLPBP CL E G H | 11212 | 9457 | ORPHA:3006 | Pyridoxine-dependent epilepsy | HP:0040282 - Frequent | | | 6 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PLXNA1 CL E G H | 5361 | 9099 | OMIM:619955 | | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PMS2 CL E G H | 5395 | 9122 | OMIM:619101 | MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4 | | | | 1121 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 244 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PNKP CL E G H | 11284 | 9154 | OMIM:613402 | Microcephaly, seizures, and developmental delay | | | | 244 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | . | | | 35 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040284 - Very rare | | | 35 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | POLG2 CL E G H | 11232 | 9180 | OMIM:618528 | Mitochondrial DNA depletion syndrome 16 (hepatic type) | . | | | 45 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | POLR1C CL E G H | 9533 | 20194 | OMIM:616494 | Leukodystrophy, hypomyelinating, 11 | . | | | 38 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | POLR2A CL E G H | 5430 | 9187 | OMIM:618603 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | POLR2A CL E G H | 5430 | 9187 | OMIM:618603 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 138 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | . | | | 138 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 67 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | POLR3B CL E G H | 55703 | 30348 | OMIM:614381 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | . | | | 67 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | POLR3GL CL E G H | 84265 | 28466 | OMIM:619234 | SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 180 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 180 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | POMGNT2 CL E G H | 84892 | 25902 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | POMK CL E G H | 84197 | 26267 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 18 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | POMK CL E G H | 84197 | 26267 | OMIM:615249 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 | HP:0040283 - Occasional | | | 18 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | POMK CL E G H | 84197 | 26267 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 213 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 213 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 213 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 213 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | POMT1 CL E G H | 10585 | 9202 | OMIM:613155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | . | | | 213 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 213 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 221 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 221 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 221 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 221 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | | | | 221 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | POMT2 CL E G H | 29954 | 19743 | OMIM:613156 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | . | | | 221 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 221 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 36 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 36 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | POU3F3 CL E G H | 5455 | 9216 | OMIM:618604 | SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PPFIBP1 CL E G H | 8496 | 9249 | OMIM:620024 | | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PPIL1 CL E G H | 51645 | 9260 | OMIM:619301 | PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14 | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PPP1R12A CL E G H | 4659 | 7618 | OMIM:618820 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PPP1R15B CL E G H | 84919 | 14951 | OMIM:616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | HP:0040283 - Occasional | | | 2 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PPP2CA CL E G H | 5515 | 9299 | OMIM:618354 | Neurodevelopmental disorder and language delay with or without structural brain abnormalities | . | | | 2 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PPP2R1A CL E G H | 5518 | 9302 | OMIM:616362 | Mental retardation, autosomal dominant 36 | | | | 13 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PPP2R1A CL E G H | 5518 | 9302 | OMIM:616362 | Mental retardation, autosomal dominant 36 | . | | | 13 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PPP2R1A CL E G H | 5518 | 9302 | ORPHA:457284 | Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PPP2R1A CL E G H | 5518 | 9302 | ORPHA:457284 | Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | . | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 148 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PRKDC CL E G H | 5591 | 9413 | OMIM:615966 | Immunodeficiency 26 with or without neurologic abnormalities | HP:0040283 - Occasional | | | 42 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PRMT7 CL E G H | 54496 | 25557 | ORPHA:464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | 34 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 54 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 54 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PRRX1 CL E G H | 5396 | 9142 | ORPHA:990 | Agnathia-holoprosencephaly-situs inversus syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PRRX1 CL E G H | 5396 | 9142 | OMIM:202650 | Agnathia-Otocephaly complex | . | | | 4 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PRUNE1 CL E G H | 58497 | 13420 | OMIM:617481 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | . | | | 8 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PSAP CL E G H | 5660 | 9498 | OMIM:611721 | Combined saposin deficiency | . | | | 81 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | HP:0040282 - Frequent | | | 27 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PTDSS1 CL E G H | 9791 | 9587 | ORPHA:2658 | Lenz-Majewski hyperostotic dwarfism | HP:0040283 - Occasional | | | 6 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PTDSS1 CL E G H | 9791 | 9587 | OMIM:151050 | Lenz-Majewski hyperostotic dwarfism | . | | | 6 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PTPN23 CL E G H | 25930 | 14406 | OMIM:618890 | NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS | | | | 3 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PUS3 CL E G H | 83480 | 25461 | ORPHA:488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PYCR1 CL E G H | 5831 | 9721 | OMIM:612940 | Cutis laxa, autosomal recessive, type IIB | . | | | 53 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 11 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PYCR2 CL E G H | 29920 | 30262 | OMIM:616420 | Leukodystrophy, hypomyelinating, 10 | . | | | 11 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:481152 | PYCR2-related microcephaly-progressive leukoencephalopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:481152 | PYCR2-related microcephaly-progressive leukoencephalopathy | HP:0040282 - Frequent | | | 11 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | QARS1 CL E G H | 5859 | 9751 | OMIM:615760 | Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | . | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | . | | | 85 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:619420 | MARTSOLF SYNDROME 2; MARTS2 | | | | 90 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:600118 | Warburg micro syndrome 1 | . | | | 90 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:600118 | Warburg micro syndrome 1 | . | | | 90 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:401830 | Autosomal recessive spastic paraplegia type 69 | HP:0040282 - Frequent | | | 135 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:614225 | Warburg micro syndrome 2 | . | | | 135 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RAC1 CL E G H | 5879 | 9801 | OMIM:617751 | Mental retardation, autosomal dominant 48 | | | | 3 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RAC1 CL E G H | 5879 | 9801 | ORPHA:500159 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | HP:0040283 - Occasional | | | 3 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | RAC3 CL E G H | 5881 | 9803 | OMIM:618577 | NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF | | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RAC3 CL E G H | 5881 | 9803 | OMIM:618577 | NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF | | | | 1 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | RAD51 CL E G H | 5888 | 9817 | ORPHA:238722 | Familial congenital mirror movements | HP:0040283 - Occasional | | | 9 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RAI1 CL E G H | 10743 | 9834 | ORPHA:1713 | 17p11.2 microduplication syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RALGAPA1 CL E G H | 253959 | 17770 | OMIM:618797 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT | | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RARS1 CL E G H | 5917 | 9870 | OMIM:616140 | Leukodystrophy, hypomyelinating, 9 | . | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RARS1 CL E G H | 5917 | 9870 | ORPHA:438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy | HP:0040282 - Frequent | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RB1 CL E G H | 5925 | 9884 | ORPHA:1587 | Monosomy 13q14 | HP:0040283 - Occasional | | | 365 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | RECQL4 CL E G H | 9401 | 9949 | OMIM:218600 | Baller-Gerold syndrome | . | | | 445 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | RELN CL E G H | 5649 | 9957 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040283 - Occasional | | | 334 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RELN CL E G H | 5649 | 9957 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040283 - Occasional | | | 334 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | REPS1 CL E G H | 85021 | 15578 | OMIM:617916 | Neurodegeneration with brain iron accumulation 7 | . | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RERE CL E G H | 473 | 9965 | ORPHA:494344 | RERE-related neurodevelopmental syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RHOBTB2 CL E G H | 23221 | 18756 | OMIM:618004 | Epileptic encephalopathy, early infantile, 64 | . | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RMND1 CL E G H | 55005 | 21176 | OMIM:614922 | Combined oxidative phosphorylation deficiency 11 | . | | | 26 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RNASEH2C CL E G H | 84153 | 24116 | OMIM:610329 | Aicardi-Goutieres syndrome 3 | . | | | 60 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RNF13 CL E G H | 11342 | 10057 | OMIM:618379 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73 | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RNF13 CL E G H | 11342 | 10057 | ORPHA:544503 | RNF13-related severe early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | . | | | 15 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RORA CL E G H | 6095 | 10258 | OMIM:618060 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA | | | | 1 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040283 - Occasional | | | 167 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | RSPO2 CL E G H | 340419 | 28583 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | HP:0040282 - Frequent | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | RTTN CL E G H | 25914 | 18654 | OMIM:614833 | Microcephaly, short stature, and polymicrogyria with or without seizures | | | | 113 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | RUSC2 CL E G H | 9853 | 23625 | OMIM:617773 | Mental retardation, autosomal recessive 61 | HP:0040284 - Very rare | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | RXYLT1 CL E G H | 10329 | 13530 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | HP:0040282 - Frequent | | | 309 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 55 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SASS6 CL E G H | 163786 | 25403 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 4 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 126 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 427 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SCN3A CL E G H | 6328 | 10590 | OMIM:617938 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62 | | | | 70 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SCYL2 CL E G H | 55681 | 19286 | OMIM:618766 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4 | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SEC31A CL E G H | 22872 | 17052 | OMIM:618651 | HALPERIN-BIRK SYNDROME; HLBKS | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 66 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SEPSECS CL E G H | 51091 | 30605 | OMIM:613811 | Pontocerebellar hypoplasia, type 2D | . | | | 66 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040282 - Frequent | | | 143 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | . | | | 2 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | HP:0040283 - Occasional | | | 53 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SHH CL E G H | 6469 | 10848 | OMIM:269160 | SCHIZENCEPHALY | | | | 67 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | HP:0040283 - Occasional | | | 74 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | . | | | 9 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | . | | | 32 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SIX3 CL E G H | 6496 | 10889 | OMIM:269160 | SCHIZENCEPHALY | | | | 32 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SIX6 CL E G H | 4990 | 10892 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 20 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SIX6 CL E G H | 4990 | 10892 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 20 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SLC12A2 CL E G H | 6558 | 10911 | OMIM:619083 | DELPIRE-MCNEILL SYNDROME; DELMNES | | | | 2 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | . | | | 163 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SLC12A6 CL E G H | 9990 | 10914 | ORPHA:1496 | Corpus callosum agenesis-neuronopathy syndrome | HP:0040281 - Very frequent | | | 163 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SLC1A2 CL E G H | 6506 | 10940 | OMIM:617105 | Epileptic encephalopathy, early infantile, 41 | . | | | 3 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SLC1A4 CL E G H | 6509 | 10942 | OMIM:616657 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | . | | | 4 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SLC1A4 CL E G H | 6509 | 10942 | ORPHA:447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SLC25A1 CL E G H | 6576 | 10979 | OMIM:618197 | Myasthenic syndrome, congenital, 23, presynaptic | | | | 28 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SLC25A10 CL E G H | 1468 | 10980 | OMIM:618972 | MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19 | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SLC25A19 CL E G H | 60386 | 14409 | ORPHA:99742 | Amish lethal microcephaly | HP:0040282 - Frequent | | | 36 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SLC25A19 CL E G H | 60386 | 14409 | OMIM:607196 | Microcephaly, Amish type | | | | 36 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 166 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | . | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | | | | 27 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | HP:0040283 - Occasional | | | 27 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SLC5A6 CL E G H | 8884 | 11041 | OMIM:618973 | NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SLC6A8 CL E G H | 6535 | 11055 | OMIM:300352 | Creatine deficiency syndrome, X-linked | . | | | 122 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SLC6A9 CL E G H | 6536 | 11056 | OMIM:617301 | Glycine encephalopathy with normal serum glycine | | | | 4 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 617 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SMARCD1 CL E G H | 6602 | 11106 | OMIM:618779 | COFFIN-SIRIS SYNDROME 11; CSS11 | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SMARCE1 CL E G H | 6605 | 11109 | OMIM:616938 | Coffin-Siris syndrome 5 | . | | | 47 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 135 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SMG9 CL E G H | 56006 | 25763 | OMIM:616920 | Heart and brain malformation syndrome | . | | | 2 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SMO CL E G H | 6608 | 11119 | ORPHA:1553 | Curry-Jones syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SMO CL E G H | 6608 | 11119 | OMIM:601707 | Curry-Jones syndrome | . | | | 22 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SNIP1 CL E G H | 79753 | 30587 | OMIM:614501 | Psychomotor retardation, epilepsy, and craniofacial dysmorphism | . | | | 3 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SOX2 CL E G H | 6657 | 11195 | ORPHA:77298 | Anophthalmia/microphthalmia-esophageal atresia syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SOX2 CL E G H | 6657 | 11195 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 33 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SOX2 CL E G H | 6657 | 11195 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 33 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SOX2 CL E G H | 6657 | 11195 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | 33 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SOX3 CL E G H | 6658 | 11199 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | 24 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SOX3 CL E G H | 6658 | 11199 | ORPHA:67045 | X-linked intellectual disability with isolated growth hormone deficiency | HP:0040283 - Occasional | | | 24 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SPATA5 CL E G H | 166378 | 18119 | OMIM:616577 | Epilepsy, hearing loss, and mental retardation syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SPATA5 CL E G H | 166378 | 18119 | ORPHA:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SPATA5L1 CL E G H | 79029 | 28762 | OMIM:619616 | NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SPG11 CL E G H | 80208 | 11226 | ORPHA:2822 | Autosomal recessive spastic paraplegia type 11 | HP:0040281 - Very frequent | | | 287 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SPG11 CL E G H | 80208 | 11226 | OMIM:616668 | Charcot-Marie-Tooth disease, axonal, type 2X | HP:0040283 - Occasional | | | 287 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | . | | | 287 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | . | | | 287 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SPG21 CL E G H | 51324 | 20373 | ORPHA:101001 | Autosomal recessive spastic paraplegia type 21 | HP:0040282 - Frequent | | | 28 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SPTAN1 CL E G H | 6709 | 11273 | OMIM:613477 | Epileptic encephalopathy, early infantile, 5 | . | | | 416 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:163721 | Rolandic epilepsy-speech dyspraxia syndrome | HP:0040283 - Occasional | | | 50 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SSR4 CL E G H | 6748 | 11326 | OMIM:300934 | Congenital disorder of glycosylation, type Iy | HP:0040283 - Occasional | | | 12 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SSR4 CL E G H | 6748 | 11326 | ORPHA:370927 | SSR4-CDG | HP:0040283 - Occasional | | | 12 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | STAG2 CL E G H | 10735 | 11355 | OMIM:301043 | HOLOPROSENCEPHALY 13, X-LINKED; HPE13 | | | | 1 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | STAG2 CL E G H | 10735 | 11355 | ORPHA:521258 | Xq25 microduplication syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | STAMBP CL E G H | 10617 | 16950 | OMIM:614261 | Microcephaly-Capillary malformation syndrome | . | | | 24 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | STXBP1 CL E G H | 6812 | 11444 | OMIM:612164 | Epileptic encephalopathy, early infantile, 4 | . | | | 237 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 124 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SUPT16H CL E G H | 11198 | 11465 | OMIM:619480 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | SUZ12 CL E G H | 23512 | 17101 | OMIM:618786 | IMAGAWA-MATSUMOTO SYNDROME; IMMAS | | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | SYNJ1 CL E G H | 8867 | 11503 | OMIM:617389 | Epileptic encephalopathy, early infantile, 53 | . | | | 9 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TAF1 CL E G H | 6872 | 11535 | ORPHA:480907 | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TAF13 CL E G H | 6884 | 11546 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TAF2 CL E G H | 6873 | 11536 | OMIM:615599 | Mental retardation, autosomal recessive 40 | . | | | 7 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TAF2 CL E G H | 6873 | 11536 | ORPHA:397951 | Microcephaly-thin corpus callosum-intellectual disability syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TARS2 CL E G H | 80222 | 30740 | OMIM:615918 | Combined oxidative phosphorylation deficiency 21 | . | | | 28 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TBC1D23 CL E G H | 55773 | 25622 | OMIM:617695 | Pontocerebellar hypoplasia, type 11 | . | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TBCE CL E G H | 6905 | 11582 | ORPHA:496756 | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | HP:0040282 - Frequent | | | 52 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TBCE CL E G H | 6905 | 11582 | OMIM:617207 | ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO | | | | 52 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TBCE CL E G H | 6905 | 11582 | OMIM:241410 | Hypoparathyroidism-Retardation-Dysmorphism syndrome | . | | | 52 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TCF12 CL E G H | 6938 | 11623 | OMIM:615314 | Craniosynostosis 3 | | | | 28 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | . | | | 241 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TCTN3 CL E G H | 26123 | 24519 | OMIM:614815 | Joubert syndrome 18 | | | | 31 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TECPR2 CL E G H | 9895 | 19957 | ORPHA:320385 | Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | HP:0040283 - Occasional | | | 39 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TECPR2 CL E G H | 9895 | 19957 | OMIM:615031 | Spastic paraplegia 49, autosomal recessive | . | | | 39 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TGFB1 CL E G H | 7040 | 11766 | OMIM:618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE | | | | 13 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | THUMPD1 CL E G H | 55623 | 23807 | OMIM:619989 | | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TMCO1 CL E G H | 54499 | 18188 | ORPHA:1394 | Cerebrofaciothoracic dysplasia | HP:0040281 - Very frequent | | | 6 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | . | | | 6 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TMEM106B CL E G H | 54664 | 22407 | OMIM:617964 | Leukodystrophy, hypomyelinating, 16 | . | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040283 - Occasional | | | 82 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TMEM260 CL E G H | 54916 | 20185 | OMIM:617478 | Structural heart defects and renal anomalies syndrome | | | | 2 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TMTC3 CL E G H | 160418 | 26899 | OMIM:617255 | Lissencephaly 8 | . | | | 5 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TMX2 CL E G H | 51075 | 30739 | OMIM:618730 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS | | | | 2 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TNR CL E G H | 7143 | 11953 | OMIM:619653 | NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO | | | | 7 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TOE1 CL E G H | 114034 | 15954 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040282 - Frequent | | | 6 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | . | | | 6 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TOGARAM1 CL E G H | 23116 | 19959 | OMIM:619185 | JOUBERT SYNDROME 37; JBTS37 | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TP73 CL E G H | 7161 | 12003 | OMIM:619466 | CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47 | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TP73 CL E G H | 7161 | 12003 | OMIM:619466 | CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47 | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TRAPPC10 CL E G H | 7109 | 11868 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TRAPPC12 CL E G H | 51112 | 24284 | ORPHA:500144 | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TRAPPC12 CL E G H | 51112 | 24284 | OMIM:617669 | Encephalopathy, progressive, early-onset, with brain atrophy and spasticity | . | | | 2 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TRAPPC14 CL E G H | 55262 | 25604 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TRAPPC14 CL E G H | 55262 | 25604 | OMIM:618351 | Microcephaly 25, primary, autosomal recessive | . | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TRAPPC6B CL E G H | 122553 | 23066 | OMIM:617862 | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | . | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TRAPPC9 CL E G H | 83696 | 30832 | ORPHA:352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | HP:0040281 - Very frequent | | | 158 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TRAPPC9 CL E G H | 83696 | 30832 | OMIM:613192 | Mental retardation, autosomal recessive 13 | . | | | 158 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TREM2 CL E G H | 54209 | 17761 | OMIM:618193 | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2 | | | | 31 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | . | | | 2 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 3 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 84 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TSEN2 CL E G H | 80746 | 28422 | OMIM:612389 | Pontocerebellar hypoplasia, type 2B | . | | | 84 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 57 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 102 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TTC5 CL E G H | 91875 | 19274 | OMIM:619244 | NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TTI2 CL E G H | 80185 | 26262 | ORPHA:391307 | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TUBA1A CL E G H | 7846 | 20766 | OMIM:611603 | Lissencephaly 3 | . | | | 106 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TUBA1A CL E G H | 7846 | 20766 | OMIM:611603 | Lissencephaly 3 | . | | | 106 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:171680 | Lissencephaly due to TUBA1A mutation | | | | 106 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:171680 | Lissencephaly due to TUBA1A mutation | | | | 106 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TUBA8 CL E G H | 51807 | 12410 | ORPHA:250972 | Polymicrogyria with optic nerve hypoplasia | HP:0040282 - Frequent | | | 21 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TUBB CL E G H | 203068 | 20778 | OMIM:615771 | Cortical dysplasia, complex, with other brain malformations 6 | | | | 14 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | HP:0040283 - Occasional | | | 14 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TUBB2A CL E G H | 7280 | 12412 | OMIM:615763 | Cortical dysplasia, complex, with other brain malformations 5 | . | | | 23 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TUBB2B CL E G H | 347733 | 30829 | OMIM:610031 | Cortical dysplasia, complex, with other brain malformations 7 | . | | | 39 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TUBB2B CL E G H | 347733 | 30829 | OMIM:610031 | Cortical dysplasia, complex, with other brain malformations 7 | . | | | 39 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TUBB2B CL E G H | 347733 | 30829 | ORPHA:300573 | Polymicrogyria due to TUBB2B mutation | HP:0040284 - Very rare | | | 39 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TUBB2B CL E G H | 347733 | 30829 | ORPHA:300573 | Polymicrogyria due to TUBB2B mutation | HP:0040283 - Occasional | | | 39 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | HP:0040282 - Frequent | | | 64 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | | | | 64 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TUBB3 CL E G H | 10381 | 20772 | OMIM:614039 | Cortical dysplasia, complex, with other brain malformations 1 | . | | | 64 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TUBB3 CL E G H | 10381 | 20772 | OMIM:614039 | Cortical dysplasia, complex, with other brain malformations 1 | . | | | 64 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | TUBB3 CL E G H | 10381 | 20772 | OMIM:600638 | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement | HP:0040283 - Occasional | | | 64 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TUBB3 CL E G H | 10381 | 20772 | OMIM:600638 | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement | | | | 64 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TUBGCP2 CL E G H | 10844 | 18599 | OMIM:618737 | PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | TYROBP CL E G H | 7305 | 12449 | OMIM:221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | . | | | 22 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | UBA5 CL E G H | 79876 | 23230 | OMIM:617132 | Epileptic encephalopathy, early infantile, 44 | . | | | 13 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040282 - Frequent | | | 278 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | . | | | 13 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | UBTF CL E G H | 7343 | 12511 | ORPHA:500180 | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | HP:0040283 - Occasional | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | UBTF CL E G H | 7343 | 12511 | OMIM:617672 | Neurodegeneration, childhood-onset, with brain atrophy | . | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | UNC80 CL E G H | 285175 | 26582 | OMIM:616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | | | | 23 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040283 - Occasional | | | 23 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | | | | 27 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | HP:0040282 - Frequent | | | 27 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | VAMP2 CL E G H | 6844 | 12643 | OMIM:618760 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563612 | Isolated exencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | VARS1 CL E G H | 7407 | 12651 | OMIM:617802 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | . | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | VARS2 CL E G H | 57176 | 21642 | OMIM:615917 | Combined oxidative phosphorylation deficiency 20 | | | | 56 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | VAX1 CL E G H | 11023 | 12660 | OMIM:614402 | Microphthalmia, syndromic 11 | . | | | 5 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | VPS11 CL E G H | 55823 | 14583 | OMIM:616683 | Leukodystrophy, hypomyelinating, 12 | | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | VPS11 CL E G H | 55823 | 14583 | ORPHA:466934 | VPS11-related autosomal recessive hypomyelinating leukodystrophy | HP:0040282 - Frequent | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | VPS50 CL E G H | 55610 | 25956 | OMIM:619685 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | VPS53 CL E G H | 55275 | 25608 | OMIM:615851 | Pontocerebellar hypoplasia, type 2E | | | | 26 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | VWA3B CL E G H | 200403 | 28385 | OMIM:616948 | Spinocerebellar ataxia, autosomal recessive 22 | | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | HP:0040283 - Occasional | | | 20 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | WAC CL E G H | 51322 | 17327 | ORPHA:284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | HP:0040283 - Occasional | | | 20 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | WDR26 CL E G H | 80232 | 21208 | OMIM:617616 | Skraban-Deardorff syndrome | . | | | 8 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | 136 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | WDR4 CL E G H | 10785 | 12756 | OMIM:618346 | Microcephaly, growth deficiency, seizures, and brain malformations | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | WDR45B CL E G H | 56270 | 25072 | OMIM:617977 | Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | . | | | 1 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | WDR62 CL E G H | 284403 | 24502 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 224 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | . | | | 224 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | WDR73 CL E G H | 84942 | 25928 | OMIM:251300 | Galloway-mowat syndrome 1 | . | | | 14 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | WDR81 CL E G H | 124997 | 26600 | OMIM:610185 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2 | . | | | 27 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | WNT3 CL E G H | 7473 | 12782 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | WT1 CL E G H | 7490 | 12796 | OMIM:106210 | Aniridia | . | | | 177 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | WWOX CL E G H | 51741 | 12799 | OMIM:616211 | Epileptic encephalopathy, early infantile, 28 | HP:0040283 - Occasional | | | 149 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | YIF1B CL E G H | 90522 | 30511 | OMIM:619125 | KAYA-BARAKAT-MASSON SYNDROME; KABAMAS | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | YWHAE CL E G H | 7531 | 12851 | ORPHA:217385 | 17p13.3 microduplication syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | YWHAE CL E G H | 7531 | 12851 | ORPHA:531 | Miller-Dieker syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ZBTB18 CL E G H | 10472 | 13030 | OMIM:612337 | Mental retardation, autosomal dominant 22 | . | | | 16 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | . | | | 362 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | | | | 362 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040282 - Frequent | | | 362 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040282 - Frequent | | | 362 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040282 - Frequent | | | 362 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040282 - Frequent | | | 362 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ZFR CL E G H | 51663 | 17277 | ORPHA:401840 | Autosomal recessive spastic paraplegia type 71 | HP:0040282 - Frequent | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ZFYVE26 CL E G H | 23503 | 20761 | ORPHA:100996 | Autosomal recessive spastic paraplegia type 15 | HP:0040281 - Very frequent | | | 189 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ZFYVE26 CL E G H | 23503 | 20761 | OMIM:270700 | Spastic paraplegia 15, autosomal recessive | . | | | 189 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ZIC1 CL E G H | 7545 | 12872 | OMIM:616602 | Craniosynostosis 6 | . | | | 5 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ZIC1 CL E G H | 7545 | 12872 | OMIM:618736 | STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS | | | | 5 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ZMIZ1 CL E G H | 57178 | 16493 | OMIM:618659 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ZNF148 CL E G H | 7707 | 12933 | OMIM:617260 | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | . | | | 4 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ZNF148 CL E G H | 7707 | 12933 | OMIM:617260 | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | . | | | 4 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ZNF335 CL E G H | 63925 | 15807 | OMIM:615095 | Microcephaly 10, primary, autosomal recessive | | | | 60 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ZNHIT3 CL E G H | 9326 | 12309 | OMIM:260565 | Peho syndrome | . | | | 1 | | |
HP:0007370 | HP:0002079 | Hypoplasia of the corpus callosum | 1 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:603671 | Acromelic frontonasal dysostosis | . | | | 5 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:603671 | Acromelic frontonasal dysostosis | . | | | 5 | | |
HP:0007370 | HP:0001274 | Agenesis of corpus callosum | 1 | ZSWIM6 CL E G H | 57688 | 29316 | ORPHA:1827 | Acromelic frontonasal dysplasia | HP:0040281 - Very frequent | | | 5 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | . | | | 34 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0007370 | HP:0006849 | Hypodysplasia of the corpus callosum | 2 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | . | | | 76 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | HP:0040282 - Frequent | | | 27 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | CDC40 CL E G H | 51362 | 17350 | OMIM:619302 | PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15 | | | | | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | CDK5RAP2 CL E G H | 55755 | 18672 | OMIM:604804 | Microcephaly 3, primary, autosomal recessive | | | | 181 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | CENPE CL E G H | 1062 | 1856 | OMIM:616051 | Microcephaly 13, primary, autosomal recessive | . | | | 20 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619517 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA | | | | 2 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | CRPPA CL E G H | 729920 | 37276 | OMIM:614643 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | . | | | | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | DHCR24 CL E G H | 1718 | 2859 | OMIM:602398 | DESMOSTEROLOSIS | . | | | 72 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | FRMD4A CL E G H | 55691 | 25491 | OMIM:616819 | Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | . | | | 1 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | FUZ CL E G H | 80199 | 26219 | ORPHA:1136 | Arnold-Chiari malformation type II | HP:0040284 - Very rare | | | 3 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | GPSM2 CL E G H | 29899 | 29501 | OMIM:604213 | CHUDLEY-MCCULLOUGH SYNDROME; CMCS | | | | 74 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | KATNB1 CL E G H | 10300 | 6217 | OMIM:616212 | Lissencephaly 6, with microcephaly | | | | 10 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | KDM5B CL E G H | 10765 | 18039 | OMIM:618109 | Mental retardation, autosomal recessive 65 | | | | 2 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | KIDINS220 CL E G H | 57498 | 29508 | OMIM:617296 | SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO | | | | 4 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | L1CAM CL E G H | 3897 | 6470 | OMIM:304100 | Corpus callosum, partial agenesis of, X-linked | . | | | 134 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | LONP1 CL E G H | 9361 | 9479 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | HP:0040283 - Occasional | | | 8 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | . | | | 289 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | LRRC32 CL E G H | 2615 | 4161 | OMIM:619074 | CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD | | | | | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | MAN2C1 CL E G H | 4123 | 6827 | OMIM:619775 | CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2 | | | | | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | MDH1 CL E G H | 4190 | 6970 | OMIM:618959 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88 | | | | | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | MED12 CL E G H | 9968 | 11957 | OMIM:305450 | Opitz-Kaveggia syndrome | . | | | 228 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | MPLKIP CL E G H | 136647 | 16002 | OMIM:234050 | Trichothiodystrophy 4, nonphotosensitive | HP:0040283 - Occasional | | | 9 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | MRPS25 CL E G H | 64432 | 14511 | OMIM:619025 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50 | | | | | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | OSTM1 CL E G H | 28962 | 21652 | ORPHA:85179 | Infantile osteopetrosis with neuroaxonal dysplasia | HP:0040282 - Frequent | | | 73 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | HP:0040283 - Occasional | | | 88 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | PDHX CL E G H | 8050 | 21350 | OMIM:245349 | Pyruvate dehydrogenase e3-binding protein deficiency | . | | | 98 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | PLCH1 CL E G H | 23007 | 29185 | OMIM:619895 | | | | | | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | SLC25A19 CL E G H | 60386 | 14409 | OMIM:607196 | Microcephaly, Amish type | . | | | 36 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | SUPT16H CL E G H | 11198 | 11465 | OMIM:619480 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC | | | | | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | TCF12 CL E G H | 6938 | 11623 | OMIM:615314 | Craniosynostosis 3 | | | | 28 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | TMEM260 CL E G H | 54916 | 20185 | OMIM:617478 | Structural heart defects and renal anomalies syndrome | | | | 2 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | TNR CL E G H | 7143 | 11953 | OMIM:619653 | NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO | | | | 7 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | TRAPPC12 CL E G H | 51112 | 24284 | ORPHA:500144 | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:171680 | Lissencephaly due to TUBA1A mutation | | | | 106 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | TUBB CL E G H | 203068 | 20778 | OMIM:615771 | Cortical dysplasia, complex, with other brain malformations 6 | | | | 14 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | HP:0040282 - Frequent | | | 64 | | |
HP:0007370 | HP:0001338 | Partial agenesis of the corpus callosum | 2 | WDR4 CL E G H | 10785 | 12756 | OMIM:618346 | Microcephaly, growth deficiency, seizures, and brain malformations | . | | | | | |