Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AAAS CL E G H | 8086 | 231550 | Glucocorticoid deficiency with achalasia | 231550 | C0271742 | OMIM | 1 | | 187 | 13666 | 605378 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AARS CL E G H | 16 | 616339 | Epileptic encephalopathy, early infantile, 29 | 616339 | C4225361 | OMIM | 1 | | | 20 | 601065 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ABCC8 CL E G H | 6833 | 276575 | | | | ORPHA | 1 | | 1569 | 59 | 600509 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ACADSB CL E G H | 36 | 610006 | Deficiency of 2-methylbutyryl-CoA dehydrogenase | 610006 | C1864912 | OMIM | 1 | | 301 | 91 | 600301 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 1 | | 834 | 25070 | 609377 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ACD CL E G H | 65057 | 616553 | Dyskeratosis congenita, autosomal dominant 6 | 616553 | C4225284 | OMIM | 1 | | 834 | 25070 | 609377 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ACE CL E G H | 1636 | 267430 | Renal dysplasia | 267430 | C3536714 | OMIM | 1 | | 324 | 2707 | 106180 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ACTB CL E G H | 60 | 243310 | Baraitser-Winter syndrome 1 | 243310 | C1855722 | OMIM | 1 | | 406 | 132 | 102630 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 406 | 132 | 102630 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 412 | 144 | 102560 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ADAMTSL1 CL E G H | 92949 | 521445 | | | | ORPHA | 1 | | 122 | 14632 | 609198 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 818 | 225 | 146920 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ADD3 CL E G H | 120 | 617008 | Cerebral palsy, spastic quadriplegic, 3 | 617008 | C4310767 | OMIM | 1 | | 117 | 245 | 601568 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ADSL CL E G H | 158 | 46 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 639 | 291 | 608222 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AGA CL E G H | 175 | 208400 | Aspartylglucosaminuria | 208400 | C0268225 | OMIM | 1 | | 413 | 318 | 613228 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AGT CL E G H | 183 | 267430 | Renal dysplasia | 267430 | C3536714 | OMIM | 1 | | 161 | 333 | 106150 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AGTR1 CL E G H | 185 | 267430 | Renal dysplasia | 267430 | C3536714 | OMIM | 1 | | 107 | 336 | 106165 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AHSG CL E G H | 197 | 2850 | | | | ORPHA | 1 | | 61 | 349 | 138680 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AIMP1 CL E G H | 9255 | 260600 | Leukodystrophy, hypomyelinating 3 | 260600 | C1850053 | OMIM | 1 | | 71 | 10648 | 603605 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ALDH18A1 CL E G H | 5832 | 616603 | Cutis laxa, autosomal dominant 3 | 616603 | C4225268 | OMIM | 1 | | 437 | 9722 | 138250 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ALDH18A1 CL E G H | 5832 | 616586 | Spastic paraplegia 9b, autosomal recessive | 616586 | C4225272 | OMIM | 1 | | 437 | 9722 | 138250 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ALDH6A1 CL E G H | 4329 | 614105 | Methylmalonate semialdehyde dehydrogenase deficiency | 614105 | C3279840 | OMIM | 1 | | 157 | 7179 | 603178 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ALG1 CL E G H | 56052 | 79327 | | | | ORPHA | 1 | | 495 | 18294 | 605907 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ALG1 CL E G H | 56052 | 608540 | Congenital disorder of glycosylation type 1K | 608540 | C2931005 | OMIM | 1 | | 495 | 18294 | 605907 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ALG13 CL E G H | 79868 | 300884 | Epileptic encephalopathy, early infantile, 36 | 300884 | C3550904 | OMIM | 1 | | 803 | 30881 | 300776 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ALG3 CL E G H | 10195 | 79321 | | | | ORPHA | 1 | | 179 | 23056 | 608750 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ALG3 CL E G H | 10195 | 601110 | Congenital disorder of glycosylation type 1D | 601110 | C1832736 | OMIM | 1 | | 179 | 23056 | 608750 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ALG9 CL E G H | 79796 | 608776 | ALG9 congenital disorder of glycosylation | 608776 | C2931006 | OMIM | 1 | | 236 | 15672 | 606941 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ALX4 CL E G H | 60529 | 613451 | Frontonasal dysplasia 2 | 613451 | C3150703 | OMIM | 1 | | 251 | 450 | 605420 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ANK1 CL E G H | 286 | 251066 | | | | ORPHA | 1 | | 642 | 492 | 612641 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ANKLE2 CL E G H | 23141 | 2512 | | | | ORPHA | 1 | | 191 | 29101 | 616062 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ANKLE2 CL E G H | 23141 | 616681 | Microcephaly 16, primary, autosomal recessive | 616681 | C4225249 | OMIM | 1 | | 191 | 29101 | 616062 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ANKRD11 CL E G H | 29123 | 2332 | | | | ORPHA | 1 | | 1515 | 21316 | 611192 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ANKRD11 CL E G H | 29123 | 148050 | KBG syndrome | 148050 | C0220687 | OMIM | 1 | | 1515 | 21316 | 611192 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP1S2 CL E G H | 8905 | 85329 | | | | ORPHA | 1 | | 218 | 560 | 300629 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP3B1 CL E G H | 8546 | 608233 | Hermansky Pudlak syndrome 2 | 608233 | C1842362 | OMIM | 1 | | 532 | 566 | 603401 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 596 | 568 | 607246 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP4B1 CL E G H | 10717 | 280763 | | | | ORPHA | 1 | | 300 | 572 | 607245 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP4B1 CL E G H | 10717 | 614066 | Spastic paraplegia 47, autosomal recessive | 614066 | C3279738 | OMIM | 1 | | 300 | 572 | 607245 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP4E1 CL E G H | 23431 | 280763 | | | | ORPHA | 1 | | 377 | 573 | 607244 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP4E1 CL E G H | 23431 | 613744 | Spastic paraplegia 51, autosomal recessive | 613744 | C3151056 | OMIM | 1 | | 377 | 573 | 607244 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP4M1 CL E G H | 9179 | 280763 | | | | ORPHA | 1 | | 311 | 574 | 602296 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP4M1 CL E G H | 9179 | 612936 | Spastic paraplegia 50, autosomal recessive | 612936 | C2752008 | OMIM | 1 | | 311 | 574 | 602296 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP4S1 CL E G H | 11154 | 280763 | | | | ORPHA | 1 | | 122 | 575 | 607243 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP4S1 CL E G H | 11154 | 614067 | Spastic paraplegia 52, autosomal recessive | 614067 | C3279743 | OMIM | 1 | | 122 | 575 | 607243 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 123 | 649 | 600820 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 243 | 29216 | 610911 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARID1A CL E G H | 8289 | 1465 | | | | ORPHA | 1 | | 545 | 11110 | 603024 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARID1B CL E G H | 57492 | 1465 | | | | ORPHA | 1 | | 1206 | 18040 | 614556 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARID1B CL E G H | 57492 | 251056 | | | | ORPHA | 1 | | 1206 | 18040 | 614556 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 1206 | 18040 | 614556 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARID2 CL E G H | 196528 | 1465 | | | | ORPHA | 1 | | 227 | 18037 | 609539 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARSE CL E G H | 415 | 302950 | Chondrodysplasia punctata 1, X-linked recessive | 302950 | C1844853 | OMIM | 1 | | | 719 | 300180 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARX CL E G H | 170302 | 452 | | | | ORPHA | 1 | | 679 | 18060 | 300382 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARX CL E G H | 170302 | 2508 | | | | ORPHA | 1 | | 679 | 18060 | 300382 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARX CL E G H | 170302 | 300004 | Proud Levine Carpenter syndrome | 300004 | C0796124 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ASPM CL E G H | 259266 | 2512 | | | | ORPHA | 1 | | 1206 | 19048 | 605481 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ASPM CL E G H | 259266 | 608716 | Primary autosomal recessive microcephaly 5 | 608716 | C1837501 | OMIM | 1 | | 1206 | 19048 | 605481 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ASXL1 CL E G H | 171023 | 97297 | | | | ORPHA | 1 | | 503 | 18318 | 612990 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 503 | 18318 | 612990 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ASXL3 CL E G H | 80816 | 615485 | Bainbridge-Ropers syndrome | 615485 | C3809650 | OMIM | 1 | | 491 | 29357 | 615115 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATP5F1A CL E G H | 498 | 616045 | Combined oxidative phosphorylation deficiency 22 | 616045 | C4015062 | OMIM | 1 | | 162 | 823 | 164360 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATP6V0A2 CL E G H | 23545 | 219200 | Cutis laxa with osteodystrophy | 219200 | C0268355 | OMIM | 1 | | 484 | 18481 | 611716 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATP6V0A2 CL E G H | 23545 | 278250 | Wrinkly skin syndrome | 278250 | C0406587 | OMIM | 1 | | 484 | 18481 | 611716 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATP7A CL E G H | 538 | 565 | | | | ORPHA | 1 | | 1283 | 869 | 300011 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATP7A CL E G H | 538 | 309400 | Menkes kinky-hair syndrome | 309400 | C0022716 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATPAF2 CL E G H | 91647 | 604273 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 | 604273 | C2700431 | OMIM | 1 | | 228 | 18802 | 608918 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATR CL E G H | 545 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 2273 | 882 | 601215 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATR CL E G H | 545 | 210600 | Seckel syndrome 1 | 210600 | CN033164 | OMIM | 1 | | 2273 | 882 | 601215 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATRIP CL E G H | 84126 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 374 | 33499 | 606605 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATRX CL E G H | 546 | 847 | | | | ORPHA | 1 | | 1544 | 886 | 300032 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1544 | 886 | 300032 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATRX CL E G H | 546 | 309580 | Mental retardation-hypotonic facies syndrome X-linked, 1 | 309580 | C0796003 | OMIM | 1 | | 1544 | 886 | 300032 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AUTS2 CL E G H | 26053 | 615834 | Mental retardation, autosomal dominant 26 | 615834 | C4014435 | OMIM | 1 | | 511 | 14262 | 607270 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 266 | 20207 | 610308 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | B9D1 CL E G H | 27077 | 564 | | | | ORPHA | 1 | | 253 | 24123 | 614144 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | B9D2 CL E G H | 80776 | 564 | | | | ORPHA | 1 | | 56 | 28636 | 611951 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 196 | 961 | 605681 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BCAP31 CL E G H | 10134 | 369939 | | | | ORPHA | 1 | | 308 | 16695 | 300398 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BCAP31 CL E G H | 10134 | 300475 | Chromosome Xq28 deletion syndrome | 300475 | C1845408 | OMIM | 1 | | 308 | 16695 | 300398 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BCL11A CL E G H | 53335 | 617101 | Intellectual developmental disorder with persistence of fetal hemoglobin | 617101 | C4310833 | OMIM | 1 | | 154 | 13221 | 606557 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BCOR CL E G H | 54880 | 568 | Aggressive fibromatosis | | | ORPHA | 1 | | 570 | 20893 | 300485 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BCOR CL E G H | 54880 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 570 | 20893 | 300485 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 570 | 20893 | 300485 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BCR CL E G H | 613 | 261330 | | | | ORPHA | 1 | | 215 | 1014 | 151410 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BDNF CL E G H | 627 | 893 | | | | ORPHA | 1 | | 57 | 1033 | 113505 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BLM CL E G H | 641 | 210900 | Bloom syndrome | 210900 | C0005859 | OMIM | 1 | | 3201 | 1058 | 604610 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BRAT1 CL E G H | 221927 | 618056 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | 618056 | CN252657 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BRCA1 CL E G H | 672 | 84 | | | | ORPHA | 1 | | 13451 | 1100 | 113705 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BRCA2 CL E G H | 675 | 84 | | | | ORPHA | 1 | | 16438 | 1101 | 600185 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BRF1 CL E G H | 2972 | 616202 | Cerebellofaciodental syndrome | 616202 | C4015495 | OMIM | 1 | | 176 | 11551 | 604902 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BRIP1 CL E G H | 83990 | 84 | | | | ORPHA | 1 | | 4520 | 20473 | 605882 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BUB1 CL E G H | 699 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 789 | 1148 | 602452 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BUB1B CL E G H | 701 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 1250 | 1149 | 602860 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BUB1B CL E G H | 701 | 257300 | Mosaic variegated aneuploidy syndrome 1 | 257300 | CN031748 | OMIM | 1 | | 1250 | 1149 | 602860 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BUB3 CL E G H | 9184 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 299 | 1151 | 603719 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | C2CD3 CL E G H | 26005 | 615948 | Orofaciodigital syndrome xiv | 615948 | C4014780 | OMIM | 1 | | 459 | 24564 | 615944 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CASK CL E G H | 8573 | 163937 | | | | ORPHA | 1 | | 706 | 1497 | 300172 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CC2D2A CL E G H | 57545 | 564 | | | | ORPHA | 1 | | 1176 | 29253 | 612013 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CCDC47 CL E G H | 57003 | 618268 | 618268 | 618268 | | OMIM | 1 | | 27 | 24856 | 0 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CD96 CL E G H | 10225 | 211750 | C syndrome | 211750 | C0796095 | OMIM | 1 | | 72 | 16892 | 606037 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CD96 CL E G H | 10225 | 1308 | Chorioretinopathy dominant form microcephaly | | | ORPHA | 1 | | 72 | 16892 | 606037 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDC45 CL E G H | 8318 | 2554 | | | | ORPHA | 1 | | 567 | 1739 | 603465 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDC6 CL E G H | 990 | 2554 | | | | ORPHA | 1 | | 104 | 1744 | 602627 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDC6 CL E G H | 990 | 613805 | Meier-Gorlin syndrome 5 | 613805 | C3151126 | OMIM | 1 | | 104 | 1744 | 602627 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDCA7 CL E G H | 83879 | 616910 | Immunodeficiency-centromeric instability-facial anomalies syndrome 3 | 616910 | C4310799 | OMIM | 1 | | 145 | 14628 | 609937 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDH11 CL E G H | 1009 | 1299 | | | | ORPHA | 1 | | 59 | 1750 | 600023 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDK5 CL E G H | 1020 | 616342 | Lissencephaly 7 with cerebellar hypoplasia | 616342 | C4225359 | OMIM | 1 | | 88 | 1774 | 123831 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDK5RAP2 CL E G H | 55755 | 2512 | | | | ORPHA | 1 | | 477 | 18672 | 608201 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDK5RAP2 CL E G H | 55755 | 604804 | Primary autosomal recessive microcephaly 3 | 604804 | C1858108 | OMIM | 1 | | 477 | 18672 | 608201 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDK6 CL E G H | 1021 | 2512 | | | | ORPHA | 1 | | 49 | 1777 | 603368 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDK6 CL E G H | 1021 | 616080 | Primary autosomal recessive microcephaly 12 | 616080 | C4015156 | OMIM | 1 | | 49 | 1777 | 603368 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDKL5 CL E G H | 6792 | 3095 | | | | ORPHA | 1 | | 1527 | 11411 | 300203 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDON CL E G H | 50937 | 280200 | | | | ORPHA | 1 | | 545 | 17104 | 608707 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDON CL E G H | 50937 | 614226 | Holoprosencephaly 11 | 614226 | C3280215 | OMIM | 1 | | 545 | 17104 | 608707 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDT1 CL E G H | 81620 | 2554 | | | | ORPHA | 1 | | 326 | 24576 | 605525 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDT1 CL E G H | 81620 | 613804 | Meier-Gorlin syndrome 4 | 613804 | C3151120 | OMIM | 1 | | 326 | 24576 | 605525 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CENPE CL E G H | 1062 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 272 | 1856 | 117143 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CENPE CL E G H | 1062 | 616051 | Primary autosomal recessive microcephaly 13 | 616051 | C4015080 | OMIM | 1 | | 272 | 1856 | 117143 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CENPJ CL E G H | 55835 | 2512 | | | | ORPHA | 1 | | 438 | 17272 | 609279 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CENPJ CL E G H | 55835 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 438 | 17272 | 609279 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CENPJ CL E G H | 55835 | 608393 | Primary autosomal recessive microcephaly 6 | 608393 | C1842109 | OMIM | 1 | | 438 | 17272 | 609279 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CENPJ CL E G H | 55835 | 613676 | Seckel syndrome 4 | 613676 | C3888212 | OMIM | 1 | | 438 | 17272 | 609279 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP135 CL E G H | 9662 | 2512 | | | | ORPHA | 1 | | 277 | 29086 | 611423 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP135 CL E G H | 9662 | 614673 | Primary autosomal recessive microcephaly 8 | 614673 | C3553414 | OMIM | 1 | | 277 | 29086 | 611423 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP152 CL E G H | 22995 | 2512 | | | | ORPHA | 1 | | 450 | 29298 | 613529 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP152 CL E G H | 22995 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 450 | 29298 | 613529 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP152 CL E G H | 22995 | 614852 | Primary autosomal recessive microcephaly 9 | 614852 | C3553886 | OMIM | 1 | | 450 | 29298 | 613529 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP152 CL E G H | 22995 | 613823 | Seckel syndrome 5 | 613823 | C3151187 | OMIM | 1 | | 450 | 29298 | 613529 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP290 CL E G H | 80184 | 564 | | | | ORPHA | 1 | | 2251 | 29021 | 610142 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP55 CL E G H | 55165 | 564 | | | | ORPHA | 1 | | 57 | 1161 | 610000 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP57 CL E G H | 9702 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 311 | 30794 | 607951 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP57 CL E G H | 9702 | 614114 | Mosaic variegated aneuploidy syndrome 2 | 614114 | C3279843 | OMIM | 1 | | 311 | 30794 | 607951 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP63 CL E G H | 80254 | 2512 | | | | ORPHA | 1 | | 219 | 25815 | 614724 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP63 CL E G H | 80254 | 614728 | Seckel syndrome 6 | 614728 | C3553582 | OMIM | 1 | | 219 | 25815 | 614724 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 2318 | 20626 | 608892 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CHKB CL E G H | 1120 | 602541 | Muscular dystrophy, congenital, megaconial type | 602541 | C1865233 | OMIM | 1 | | 419 | 1938 | 612395 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CHRNG CL E G H | 1146 | 2990 | | | | ORPHA | 1 | | 220 | 1967 | 100730 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CHUK CL E G H | 1147 | 613630 | Cocoon syndrome | 613630 | C3150891 | OMIM | 1 | | 125 | 1974 | 600664 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CIT CL E G H | 11113 | 2512 | | | | ORPHA | 1 | | 343 | 1985 | 605629 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CIT CL E G H | 11113 | 617090 | Microcephaly 17, primary, autosomal recessive | 617090 | C4310723 | OMIM | 1 | | 343 | 1985 | 605629 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CKAP2L CL E G H | 150468 | 272440 | Filippi syndrome | 272440 | C0795940 | OMIM | 1 | | 110 | 26877 | 616174 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CKAP2L CL E G H | 150468 | 3255 | Limb scalp and skull defects | | | ORPHA | 1 | | 110 | 26877 | 616174 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CLIP2 CL E G H | 7461 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 181 | 2586 | 603432 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 453 | 30664 | 616254 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CNNM2 CL E G H | 54805 | 616418 | Hypomagnesemia, seizures, and mental retardation | 616418 | C4225333 | OMIM | 1 | | 218 | 103 | 607803 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CNTNAP1 CL E G H | 8506 | 618186 | Congenital hypomyelinating neuropathy 3 | 618186 | | OMIM | 1 | | 267 | 8011 | 602346 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | COG4 CL E G H | 25839 | 85172 | | | | ORPHA | 1 | | 262 | 18620 | 606976 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 262 | 18620 | 606976 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | COG6 CL E G H | 57511 | 614576 | Congenital disorder of glycosylation type 2L | 614576 | C3553230 | OMIM | 1 | | 315 | 18621 | 606977 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | COPB2 CL E G H | 9276 | 2512 | | | | ORPHA | 1 | | 58 | 2232 | 606990 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | COPB2 CL E G H | 9276 | 617800 | MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE | 617800 | C4540488 | OMIM | 1 | | 58 | 2232 | 606990 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 251 | 2263 | 603646 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | COX7B CL E G H | 1349 | 309801 | Linear skin defects with multiple congenital anomalies 1 | 309801 | C0796070 | OMIM | 1 | | 173 | 2291 | 300885 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | COX7B CL E G H | 1349 | 300887 | Linear skin defects with multiple congenital anomalies 2 | 300887 | C3550921 | OMIM | 1 | | 173 | 2291 | 300885 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CPLX1 CL E G H | 10815 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 167 | 2309 | 605032 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CPT2 CL E G H | 1376 | 608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | 608836 | C1833518 | OMIM | 1 | | 720 | 2330 | 600650 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CRKL CL E G H | 1399 | 261330 | | | | ORPHA | 1 | | 414 | 2363 | 602007 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CSNK2A1 CL E G H | 1457 | 617062 | Okur-chung neurodevelopmental syndrome | 617062 | C4310739 | OMIM | 1 | | 196 | 2457 | 115440 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CSPP1 CL E G H | 79848 | 564 | | | | ORPHA | 1 | | 793 | 26193 | 611654 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CTBP1 CL E G H | 1487 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 217 | 2494 | 602618 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CTCF CL E G H | 10664 | 615502 | Mental retardation, autosomal dominant 21 | 615502 | C3809686 | OMIM | 1 | | 235 | 13723 | 604167 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CTNNB1 CL E G H | 1499 | 615075 | Mental retardation, autosomal dominant 19 | 615075 | C3554449 | OMIM | 1 | | 468 | 2514 | 116806 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CTNND2 CL E G H | 1501 | 281 | Ramer Ladda syndrome | | | ORPHA | 1 | | 313 | 2516 | 604275 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 527 | 2529 | 116840 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CTU2 CL E G H | 348180 | 618142 | MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME | 618142 | | OMIM | 1 | | 173 | 28005 | 617057 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CYB5R3 CL E G H | 1727 | 250800 | Deficiency of cytochrome-b5 reductase | 250800 | C0268193 | OMIM | 1 | | 151 | 2873 | 613213 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CYP26C1 CL E G H | 340665 | 398189 | | | | ORPHA | 1 | | 33 | 20577 | 608428 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DCPS CL E G H | 28960 | 616459 | AL-RAQAD SYNDROME | 616459 | C4085595 | OMIM | 1 | | 106 | 29812 | 610534 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DDX11 CL E G H | 1663 | 613398 | Warsaw breakage syndrome | 613398 | C3150658 | OMIM | 1 | | 138 | 2736 | 601150 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DDX3X CL E G H | 1654 | 457260 | | | | ORPHA | 1 | | 602 | 2745 | 300160 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DGCR2 CL E G H | 9993 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 409 | 2845 | 600594 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DGCR6 CL E G H | 8214 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 336 | 2846 | 601279 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DGCR8 CL E G H | 54487 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 398 | 2847 | 609030 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 167 | 2858 | 601465 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DHCR24 CL E G H | 1718 | 35107 | | | | ORPHA | 1 | | 216 | 2859 | 606418 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DHCR7 CL E G H | 1717 | 818 | | | | ORPHA | 1 | | 648 | 2860 | 602858 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 648 | 2860 | 602858 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DHTKD1 CL E G H | 55526 | 204750 | 2-aminoadipic 2-oxoadipic aciduria | 204750 | C1859817 | OMIM | 1 | | 428 | 23537 | 614984 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DIAPH1 CL E G H | 1729 | 616632 | Seizures, cortical blindness, and microcephaly syndrome | 616632 | C4225261 | OMIM | 1 | | 939 | 2876 | 602121 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DISP1 CL E G H | 84976 | 280200 | | | | ORPHA | 1 | | 196 | 19711 | 607502 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DKC1 CL E G H | 1736 | 3322 | | | | ORPHA | 1 | | 477 | 2890 | 300126 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 477 | 2890 | 300126 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DLAT CL E G H | 1737 | 245348 | Pyruvate dehydrogenase E2 deficiency | 245348 | C1855565 | OMIM | 1 | | 237 | 2896 | 608770 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 422 | 2898 | 238331 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DLL1 CL E G H | 28514 | 280200 | | | | ORPHA | 1 | | 271 | 2908 | 606582 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DNA2 CL E G H | 1763 | 615807 | Seckel syndrome 8 | 615807 | C3891452 | OMIM | 1 | | 331 | 2939 | 601810 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 445 | 2973 | 603850 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DOCK6 CL E G H | 57572 | 614219 | Adams-Oliver syndrome 2 | 614219 | C3280182 | OMIM | 1 | | 561 | 19189 | 614194 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DONSON CL E G H | 29980 | 251230 | Microcephaly-micromelia syndrome | 251230 | C1855079 | OMIM | 1 | | 158 | 2993 | 611428 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DPAGT1 CL E G H | 1798 | 86309 | | | | ORPHA | 1 | | 258 | 2995 | 191350 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DPAGT1 CL E G H | 1798 | 608093 | Congenital disorder of glycosylation type 1J | 608093 | C2931004 | OMIM | 1 | | 258 | 2995 | 191350 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DPF2 CL E G H | 5977 | 1465 | | | | ORPHA | 1 | | 73 | 9964 | 601671 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DPM1 CL E G H | 8813 | 79322 | | | | ORPHA | 1 | | 203 | 3005 | 603503 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DPP6 CL E G H | 1804 | 2514 | | | | ORPHA | 1 | | 225 | 3010 | 126141 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DPP6 CL E G H | 1804 | 616311 | Mental retardation, autosomal dominant 33 | 616311 | C4225375 | OMIM | 1 | | 225 | 3010 | 126141 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DPYD CL E G H | 1806 | 274270 | Dihydropyrimidine dehydrogenase deficiency | 274270 | C2720286 | OMIM | 1 | | 379 | 3012 | 612779 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DSTYK CL E G H | 25778 | 270750 | Spastic paraplegia 23 | 270750 | C0796019 | OMIM | 1 | | 102 | 29043 | 612666 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DYM CL E G H | 54808 | 239 | | | | ORPHA | 1 | | 260 | 21317 | 607461 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DYM CL E G H | 54808 | 223800 | Dyggve-Melchior-Clausen syndrome | 223800 | C0265286 | OMIM | 1 | | 260 | 21317 | 607461 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DYM CL E G H | 54808 | 607326 | Smith-McCort dysplasia 1 | 607326 | C1846431 | OMIM | 1 | | 260 | 21317 | 607461 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EDC3 CL E G H | 80153 | 616460 | Mental retardation, autosomal recessive 50 | 616460 | C4225319 | OMIM | 1 | | 49 | 26114 | 609842 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EFNB1 CL E G H | 1947 | 1520 | | | | ORPHA | 1 | | 214 | 3226 | 300035 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EFTUD2 CL E G H | 9343 | 610536 | Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | 610536 | C1864652 | OMIM | 1 | | 363 | 30858 | 603892 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EHMT1 CL E G H | 79813 | 96147 | | | | ORPHA | 1 | | 1570 | 24650 | 607001 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EIF2AK3 CL E G H | 9451 | 226980 | Wolcott-Rallison dysplasia | 226980 | C0432217 | OMIM | 1 | | 359 | 3255 | 604032 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 1 | | 190 | 3267 | 300161 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ELN CL E G H | 2006 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EMG1 CL E G H | 10436 | 1270 | | | | ORPHA | 1 | | 68 | 16912 | 611531 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EMG1 CL E G H | 10436 | 211180 | Bowen-Conradi syndrome | 211180 | C1859405 | OMIM | 1 | | 68 | 16912 | 611531 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ENTPD1 CL E G H | 953 | 401810 | | | | ORPHA | 1 | | 136 | 3363 | 601752 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EP300 CL E G H | 2033 | 613684 | Rubinstein-Taybi syndrome 2 | 613684 | C3150941 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EPG5 CL E G H | 57724 | 242840 | Vici syndrome | 242840 | C1855772 | OMIM | 1 | | 1213 | 29331 | 615068 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 113 | 3433 | 126380 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC1 CL E G H | 2067 | 610758 | Cerebrooculofacioskeletal syndrome 4 | 610758 | C1853100 | OMIM | 1 | | 113 | 3433 | 126380 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1196 | 3434 | 126340 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 1196 | 3434 | 126340 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC2 CL E G H | 2068 | 610756 | Cerebrooculofacioskeletal syndrome 2 | 610756 | C1853102 | OMIM | 1 | | 1196 | 3434 | 126340 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 1196 | 3434 | 126340 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 1196 | 3434 | 126340 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 368 | 3435 | 133510 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC3 CL E G H | 2071 | 610651 | Xeroderma pigmentosum, complementation group b | 610651 | C1970808 | OMIM | 1 | | 368 | 3435 | 133510 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC4 CL E G H | 2072 | 84 | | | | ORPHA | 1 | | 602 | 3436 | 133520 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 602 | 3436 | 133520 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC4 CL E G H | 2072 | 615272 | Fanconi anemia, complementation group Q | 615272 | C3808988 | OMIM | 1 | | 602 | 3436 | 133520 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC4 CL E G H | 2072 | 610965 | XFE progeroid syndrome | 610965 | C1970416 | OMIM | 1 | | 602 | 3436 | 133520 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 425 | 3437 | 133530 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 425 | 3437 | 133530 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC5 CL E G H | 2073 | 616570 | Cerebrooculofacioskeletal syndrome 3 | 616570 | C1851443 | OMIM | 1 | | 425 | 3437 | 133530 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1170 | 3438 | 609413 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC6 CL E G H | 2074 | 214150 | Cerebro-oculo-facio-skeletal syndrome | 214150 | C0220722 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC6 CL E G H | 2074 | 133540 | Cockayne syndrome B | 133540 | C0751038 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC6L2 CL E G H | 375748 | 615715 | Bone marrow failure syndrome 2 | 615715 | C3810350 | OMIM | 1 | | 431 | 26922 | 615667 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | | 390 | 3439 | 609412 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ESCO2 CL E G H | 157570 | 3103 | | | | ORPHA | 1 | | 435 | 27230 | 609353 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ESCO2 CL E G H | 157570 | 268300 | Roberts-SC phocomelia syndrome | 268300 | C0392475 | OMIM | 1 | | 435 | 27230 | 609353 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ESCO2 CL E G H | 157570 | 269000 | Roberts-SC phocomelia syndrome | 269000 | C0392475 | OMIM | 1 | | 435 | 27230 | 609353 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ESS2 CL E G H | 8220 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 398 | 16817 | 601755 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EXOSC9 CL E G H | 5393 | 618065 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1D | 618065 | CN252648 | OMIM | 1 | | 156 | 9137 | 606180 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FAM20C CL E G H | 56975 | 1832 | Diabetes hypogonadism deafness mental retardation | | | ORPHA | 1 | | 350 | 22140 | 611061 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FAM20C CL E G H | 56975 | 259775 | Raine syndrome | 259775 | C1850106 | OMIM | 1 | | 350 | 22140 | 611061 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCA CL E G H | 2175 | 84 | | | | ORPHA | 1 | | 3697 | 3582 | 607139 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCA CL E G H | 2175 | 227650 | Fanconi anemia, complementation group A | 227650 | C3469521 | OMIM | 1 | | 3697 | 3582 | 607139 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCB CL E G H | 2187 | 84 | | | | ORPHA | 1 | | 516 | 3583 | 300515 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCC CL E G H | 2176 | 84 | | | | ORPHA | 1 | | 1542 | 3584 | 613899 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCC CL E G H | 2176 | 227645 | Fanconi anemia, complementation group C | 227645 | C3468041 | OMIM | 1 | | 1542 | 3584 | 613899 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCD2 CL E G H | 2177 | 84 | | | | ORPHA | 1 | | 1041 | 3585 | 613984 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCD2 CL E G H | 2177 | 227646 | Fanconi anemia, complementation group D2 | 227646 | C3160738 | OMIM | 1 | | 1041 | 3585 | 613984 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCE CL E G H | 2178 | 84 | | | | ORPHA | 1 | | 424 | 3586 | 613976 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCE CL E G H | 2178 | 600901 | Fanconi anemia, complementation group E | 600901 | C3160739 | OMIM | 1 | | 424 | 3586 | 613976 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCF CL E G H | 2188 | 84 | | | | ORPHA | 1 | | 353 | 3587 | 613897 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCG CL E G H | 2189 | 84 | | | | ORPHA | 1 | | 634 | 3588 | 602956 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCI CL E G H | 55215 | 84 | | | | ORPHA | 1 | | 1212 | 25568 | 611360 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCL CL E G H | 55120 | 84 | | | | ORPHA | 1 | | 427 | 20748 | 608111 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCM CL E G H | 57697 | 84 | | | | ORPHA | 1 | | 1633 | 23168 | 609644 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FAR1 CL E G H | 84188 | 616154 | Peroxisomal fatty acyl-coa reductase 1 disorder | 616154 | C4015344 | OMIM | 1 | | 197 | 26222 | 616107 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 479 | 21062 | 611592 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FBLN5 CL E G H | 10516 | 219100 | Autosomal recessive cutis laxa type IA | 219100 | CN033664 | OMIM | 1 | | 315 | 3602 | 604580 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FBXO11 CL E G H | 80204 | 618089 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES | 618089 | CN252702 | OMIM | 1 | | 530 | 13590 | 607871 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FGF8 CL E G H | 2253 | 280200 | | | | ORPHA | 1 | | 77 | 3686 | 600483 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FGFR1 CL E G H | 2260 | 280200 | | | | ORPHA | 1 | | 688 | 3688 | 136350 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FGFR1 CL E G H | 2260 | 615465 | Hartsfield syndrome | 615465 | C1845146 | OMIM | 1 | | 688 | 3688 | 136350 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FGFR1 CL E G H | 2260 | 190440 | Trigonocephaly 1 | 190440 | C0432122 | OMIM | 1 | | 688 | 3688 | 136350 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FGFR3 CL E G H | 2261 | 85165 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FGFR3 CL E G H | 2261 | 610474 | Camptodactyly, tall stature, and hearing loss syndrome | 610474 | C1864852 | OMIM | 1 | | 746 | 3690 | 134934 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FGFRL1 CL E G H | 53834 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 288 | 3693 | 605830 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FH CL E G H | 2271 | 606812 | Fumarase deficiency | 606812 | C0342770 | OMIM | 1 | | 1594 | 3700 | 136850 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FIG4 CL E G H | 9896 | 216340 | Yunis Varon syndrome | 216340 | C1857663 | OMIM | 1 | | 749 | 16873 | 609390 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FKRP CL E G H | 79147 | 606612 | Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 | 606612 | C1847759 | OMIM | 1 | | 787 | 17997 | 606596 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FKRP CL E G H | 79147 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 787 | 17997 | 606596 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FKTN CL E G H | 2218 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FLCN CL E G H | 201163 | 610883 | Chromosome 17, trisomy 17p11 2 | 610883 | C2931246 | OMIM | 1 | | 1833 | 27310 | 607273 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FOXG1 CL E G H | 2290 | 3095 | | | | ORPHA | 1 | | 614 | 3811 | 164874 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FOXG1 CL E G H | 2290 | 261144 | | | | ORPHA | 1 | | 614 | 3811 | 164874 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FOXH1 CL E G H | 8928 | 280200 | | | | ORPHA | 1 | | 235 | 3814 | 603621 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FRAS1 CL E G H | 80144 | 219000 | Cryptophthalmos syndrome | 219000 | C0265233 | OMIM | 1 | | 899 | 19185 | 607830 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 199 | 24678 | 610966 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | G6PC3 CL E G H | 92579 | 612541 | Severe congenital neutropenia 4, autosomal recessive | 612541 | C2675526 | OMIM | 1 | | 218 | 24861 | 611045 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GABBR2 CL E G H | 9568 | 3095 | | | | ORPHA | 1 | | 682 | 4507 | 607340 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GABBR2 CL E G H | 9568 | 617903 | NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS | 617903 | CN870852 | OMIM | 1 | | 682 | 4507 | 607340 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GABRD CL E G H | 2563 | 1606 | | | | ORPHA | 1 | | 397 | 4084 | 137163 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GAD1 CL E G H | 2571 | 603513 | Cerebral palsy, spastic quadriplegic, 1 | 603513 | C2751938 | OMIM | 1 | | 189 | 4092 | 605363 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GAS1 CL E G H | 2619 | 280200 | | | | ORPHA | 1 | | 71 | 4165 | 139185 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GATA4 CL E G H | 2626 | 251071 | | | | ORPHA | 1 | | 630 | 4173 | 600576 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GBA CL E G H | 2629 | 608013 | Gaucher disease, perinatal lethal | 608013 | C1842704 | OMIM | 1 | | | 4177 | 606463 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GFM1 CL E G H | 85476 | 609060 | Combined oxidative phosphorylation deficiency 1 | 609060 | C1836797 | OMIM | 1 | | 495 | 13780 | 606639 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GJA1 CL E G H | 2697 | 164200 | Oculodentodigital dysplasia | 164200 | C0812437 | OMIM | 1 | | 221 | 4274 | 121014 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GJA1 CL E G H | 2697 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 221 | 4274 | 121014 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GJA5 CL E G H | 2702 | 612474 | 1q21.1 recurrent microdeletion | 612474 | C2675897 | OMIM | 1 | | 446 | 4279 | 121013 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GJA8 CL E G H | 2703 | 612474 | 1q21.1 recurrent microdeletion | 612474 | C2675897 | OMIM | 1 | | 393 | 4281 | 600897 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GJB3 CL E G H | 2707 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 171 | 4285 | 603324 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GJB4 CL E G H | 127534 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 64 | 4286 | 605425 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GLI2 CL E G H | 2736 | 280200 | | | | ORPHA | 1 | | 600 | 4318 | 165230 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GLI2 CL E G H | 2736 | 610829 | Holoprosencephaly 9 | 610829 | C1835819 | OMIM | 1 | | 600 | 4318 | 165230 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 81 | 24247 | 610516 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GMNN CL E G H | 51053 | 2554 | | | | ORPHA | 1 | | 54 | 17493 | 602842 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GMPPB CL E G H | 29925 | 615350 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 | 615350 | C3809216 | OMIM | 1 | | 273 | 22932 | 615320 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GMPPB CL E G H | 29925 | 615351 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 | 615351 | C3809221 | OMIM | 1 | | 273 | 22932 | 615320 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GNPAT CL E G H | 8443 | 222765 | Rhizomelic chondrodysplasia punctata type 2 | 222765 | C1857242 | OMIM | 1 | | 261 | 4416 | 602744 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GORAB CL E G H | 92344 | 231070 | Geroderma osteodysplastica | 231070 | C0432255 | OMIM | 1 | | 198 | 25676 | 607983 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GPKOW CL E G H | 27238 | 2570 | Growth deficiency brachydactyly unusual facies | | | ORPHA | 1 | | 164 | 30677 | 301003 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GPT2 CL E G H | 84706 | 477673 | ANO5-Related Disorders | | CN239193 | ORPHA | 1 | | 86 | 18062 | 138210 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GPT2 CL E G H | 84706 | 616281 | Mental retardation, autosomal recessive 49 | 616281 | C4225388 | OMIM | 1 | | 86 | 18062 | 138210 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GRIN2D CL E G H | 2906 | 617162 | Epileptic encephalopathy, early infantile, 46 | 617162 | C4310687 | OMIM | 1 | | 519 | 4588 | 602717 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GTF2E2 CL E G H | 2961 | 616943 | Trichothiodystrophy 6, nonphotosensitive | 616943 | C4310785 | OMIM | 1 | | 141 | 4651 | 189964 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GTF2I CL E G H | 2969 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 163 | 4659 | 601679 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GTF2IRD1 CL E G H | 9569 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 218 | 4661 | 604318 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HBA1 CL E G H | 3039 | 98791 | | | | ORPHA | 1 | | 379 | 4823 | 141800 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HBA2 CL E G H | 3040 | 98791 | | | | ORPHA | 1 | | 333 | 4824 | 141850 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HCCS CL E G H | 3052 | 309801 | Linear skin defects with multiple congenital anomalies 1 | 309801 | C0796070 | OMIM | 1 | | 218 | 4837 | 300056 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HCFC1 CL E G H | 3054 | 309541 | Mental retardation 3, X-linked | 309541 | C0796208 | OMIM | 1 | | 686 | 4839 | 300019 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HDAC4 CL E G H | 9759 | 1001 | Branchial arch defects | | | ORPHA | 1 | | 427 | 14063 | 605314 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HDAC8 CL E G H | 55869 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 322 | 13315 | 300269 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HDAC8 CL E G H | 55869 | 300882 | Cornelia de Lange syndrome 5 | 300882 | C3550903 | OMIM | 1 | | 322 | 13315 | 300269 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HHAT CL E G H | 55733 | 1422 | Cohen Hayden syndrome | | | ORPHA | 1 | | 78 | 18270 | 605743 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HMGB3 CL E G H | 3149 | 300915 | Microphthalmia, syndromic 13 | 300915 | C3806742 | OMIM | 1 | | 184 | 5004 | 300193 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HNMT CL E G H | 3176 | 616739 | Mental retardation, autosomal recessive 51 | 616739 | C4225220 | OMIM | 1 | | 42 | 5028 | 605238 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HNRNPU CL E G H | 3192 | 238769 | | | | ORPHA | 1 | | 692 | 5048 | 602869 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HNRNPU CL E G H | 3192 | 617391 | Epileptic encephalopathy, early infantile, 54 | 617391 | C4479319 | OMIM | 1 | | 692 | 5048 | 602869 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | IARS CL E G H | 3376 | 617093 | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 617093 | C4310720 | OMIM | 1 | | | 5330 | 600709 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | IER3IP1 CL E G H | 51124 | 614231 | Microcephaly, epilepsy, and diabetes syndrome | 614231 | C3280240 | OMIM | 1 | | 127 | 18550 | 609382 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 1 | | 892 | 18873 | 606951 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | IFT74 CL E G H | 80173 | 617119 | Bardet-Biedl syndrome 20 | 617119 | C4310707 | OMIM | 1 | | 262 | 21424 | 608040 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | IGF1 CL E G H | 3479 | 73272 | | | | ORPHA | 1 | | 183 | 5464 | 147440 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | IGF1 CL E G H | 3479 | 608747 | Insulin-like growth factor I deficiency | 608747 | C1837475 | OMIM | 1 | | 183 | 5464 | 147440 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | IGF1R CL E G H | 3480 | 73273 | | | | ORPHA | 1 | | 713 | 5465 | 147370 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | IGF1R CL E G H | 3480 | 270450 | Insulin-like growth factor 1 resistance to | 270450 | C1849157 | OMIM | 1 | | 713 | 5465 | 147370 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | IKBKG CL E G H | 8517 | 308300 | Incontinentia pigmenti syndrome | 308300 | C0021171 | OMIM | 1 | | 357 | 5961 | 300248 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ITGA3 CL E G H | 3675 | 614748 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | 614748 | C3553636 | OMIM | 1 | | 186 | 6139 | 605025 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ITGB6 CL E G H | 3694 | 2850 | | | | ORPHA | 1 | | 95 | 6161 | 147558 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KAT6A CL E G H | 7994 | 457193 | | | | ORPHA | 1 | | 545 | 13013 | 601408 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KAT6A CL E G H | 7994 | 616268 | Mental retardation, autosomal dominant 32 | 616268 | C4225396 | OMIM | 1 | | 545 | 13013 | 601408 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KAT6B CL E G H | 23522 | 3047 | | | | ORPHA | 1 | | 605 | 17582 | 605880 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KAT6B CL E G H | 23522 | 85201 | | | | ORPHA | 1 | | 605 | 17582 | 605880 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KAT6B CL E G H | 23522 | 606170 | Genitopatellar syndrome | 606170 | C1853566 | OMIM | 1 | | 605 | 17582 | 605880 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KAT6B CL E G H | 23522 | 603736 | Young Simpson syndrome | 603736 | C1863557 | OMIM | 1 | | 605 | 17582 | 605880 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KATNB1 CL E G H | 10300 | 616212 | Lissencephaly 6, with microcephaly | 616212 | C4015525 | OMIM | 1 | | 188 | 6217 | 602703 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KCNAB2 CL E G H | 8514 | 1606 | | | | ORPHA | 1 | | 91 | 6229 | 601142 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KCNJ11 CL E G H | 3767 | 276580 | | | | ORPHA | 1 | | 380 | 6257 | 600937 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KCNJ2 CL E G H | 3759 | 170390 | Andersen Tawil syndrome | 170390 | C1563715 | OMIM | 1 | | 500 | 6263 | 600681 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 122 | 6267 | 600877 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KCNJ6 CL E G H | 3763 | 614098 | Keppen-Lubinsky syndrome | 614098 | C3279800 | OMIM | 1 | | 122 | 6267 | 600877 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KCNT1 CL E G H | 57582 | 614959 | Early infantile epileptic encephalopathy 14 | 614959 | C3554195 | OMIM | 1 | | 1678 | 18865 | 608167 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KDM6A CL E G H | 7403 | 2322 | | | | ORPHA | 1 | | 678 | 12637 | 300128 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KDM6A CL E G H | 7403 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 678 | 12637 | 300128 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KDSR CL E G H | 2531 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 99 | 4021 | 136440 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KIF11 CL E G H | 3832 | 2526 | | | | ORPHA | 1 | | 605 | 6388 | 148760 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KIF11 CL E G H | 3832 | 152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | 152950 | C1835265 | OMIM | 1 | | 605 | 6388 | 148760 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KIF14 CL E G H | 9928 | 2512 | | | | ORPHA | 1 | | 176 | 19181 | 611279 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KIF14 CL E G H | 9928 | 616258 | Meckel syndrome 12 | 616258 | C4015701 | OMIM | 1 | | 176 | 19181 | 611279 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 2132 | 888 | 601255 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KIF1A CL E G H | 547 | 614255 | Mental retardation, autosomal dominant 9 | 614255 | C3280283 | OMIM | 1 | | 2132 | 888 | 601255 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KIF1BP CL E G H | 26128 | 66629 | | | | ORPHA | 1 | | | 23419 | 609367 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KIF1BP CL E G H | 26128 | 609460 | Goldberg-Shprintzen megacolon syndrome | 609460 | C1836123 | OMIM | 1 | | | 23419 | 609367 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KIF1C CL E G H | 10749 | 397946 | | | | ORPHA | 1 | | 366 | 6317 | 603060 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KIF2A CL E G H | 3796 | 615411 | Cortical dysplasia, complex, with other brain malformations 3 | 615411 | C3809414 | OMIM | 1 | | 319 | 6318 | 602591 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KIF5A CL E G H | 3798 | 617235 | Myoclonus, intractable, neonatal | 617235 | C4310658 | OMIM | 1 | | 744 | 6323 | 602821 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KIF5C CL E G H | 3800 | 615282 | Cortical dysplasia, complex, with other brain malformations 2 | 615282 | C3809013 | OMIM | 1 | | 185 | 6325 | 604593 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KLHL7 CL E G H | 55975 | 97297 | | | | ORPHA | 1 | | 258 | 15646 | 611119 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KMT2A CL E G H | 4297 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 1317 | 7132 | 159555 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KMT2D CL E G H | 8085 | 2322 | | | | ORPHA | 1 | | 2939 | 7133 | 602113 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KMT2D CL E G H | 8085 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 2939 | 7133 | 602113 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KNL1 CL E G H | 57082 | 2512 | | | | ORPHA | 1 | | 319 | 24054 | 609173 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KNL1 CL E G H | 57082 | 604321 | Primary autosomal recessive microcephaly 4 | 604321 | C1858516 | OMIM | 1 | | 319 | 24054 | 609173 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KYNU CL E G H | 8942 | 617661 | VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 | 617661 | C4540014 | OMIM | 1 | | 62 | 6469 | 605197 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | L1CAM CL E G H | 3897 | 1497 | Congenital mixovirus | | | ORPHA | 1 | | 794 | 6470 | 308840 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | L1CAM CL E G H | 3897 | 304100 | Corpus callosum, partial agenesis of, X-linked | 304100 | C1839909 | OMIM | 1 | | 794 | 6470 | 308840 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | L1CAM CL E G H | 3897 | 303350 | Spastic paraplegia 1 | 303350 | C0795953 | OMIM | 1 | | 794 | 6470 | 308840 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | LAGE3 CL E G H | 8270 | 2065 | | | | ORPHA | 1 | | 233 | 26058 | 300060 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | LARGE1 CL E G H | 9215 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 658 | 6511 | 603590 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | LARP7 CL E G H | 51574 | 615071 | Alazami syndrome | 615071 | C3554439 | OMIM | 1 | | 162 | 24912 | 612026 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | LARS CL E G H | 51520 | 615438 | Infantile liver failure syndrome 1 | 615438 | C3809522 | OMIM | 1 | | | 6512 | 151350 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | LAS1L CL E G H | 81887 | 309585 | Wilson-Turner X-linked mental retardation syndrome | 309585 | C1839736 | OMIM | 1 | | 243 | 25726 | 300964 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | LEMD3 CL E G H | 23592 | 166119 | | | | ORPHA | 1 | | 299 | 28887 | 607844 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | LETM1 CL E G H | 3954 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 263 | 6556 | 604407 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | LETM1 CL E G H | 3954 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 263 | 6556 | 604407 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 335 | 16429 | 607031 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | LIG4 CL E G H | 3981 | 235 | | | | ORPHA | 1 | | 510 | 6601 | 601837 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | LIG4 CL E G H | 3981 | 99812 | | | | ORPHA | 1 | | 510 | 6601 | 601837 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | LIMK1 CL E G H | 3984 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 201 | 6613 | 601329 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | LRP5 CL E G H | 4041 | 259770 | Osteoporosis with pseudoglioma | 259770 | C0432252 | OMIM | 1 | | 1354 | 6697 | 603506 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | LTC4S CL E G H | 4056 | 614037 | Leukotriene c4 synthase deficiency | 614037 | C3279662 | OMIM | 1 | | 47 | 6719 | 246530 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MAD2L2 CL E G H | 10459 | 84 | | | | ORPHA | 1 | | 57 | 6764 | 604094 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MAD2L2 CL E G H | 10459 | 617243 | Fanconi anemia, complementation group V | 617243 | C4310652 | OMIM | 1 | | 57 | 6764 | 604094 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MAPK1 CL E G H | 5594 | 261330 | | | | ORPHA | 1 | | 130 | 6871 | 176948 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 224 | 6901 | 600521 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MBD5 CL E G H | 55777 | 228402 | | | | ORPHA | 1 | | 1149 | 20444 | 611472 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MBD5 CL E G H | 55777 | 156200 | Mental retardation, autosomal dominant 1 | 156200 | C1969562 | OMIM | 1 | | 1149 | 20444 | 611472 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MBTPS2 CL E G H | 51360 | 85284 | | | | ORPHA | 1 | | 248 | 15455 | 300294 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MBTPS2 CL E G H | 51360 | 308205 | IFAP syndrome with or without BRESHECK syndrome | 308205 | C1839988 | OMIM | 1 | | 248 | 15455 | 300294 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MCM4 CL E G H | 4173 | 609981 | Natural killer cell and glucocorticoid deficiency with DNA repair defect | 609981 | C1864947 | OMIM | 1 | | 370 | 6947 | 602638 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MCOLN1 CL E G H | 57192 | 252650 | Mucolipidosis type IV | 252650 | C0238286 | OMIM | 1 | | 538 | 13356 | 605248 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MCPH1 CL E G H | 79648 | 2512 | | | | ORPHA | 1 | | 614 | 6954 | 607117 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MCPH1 CL E G H | 79648 | 251200 | Primary autosomal recessive microcephaly 1 | 251200 | C1855081 | OMIM | 1 | | 614 | 6954 | 607117 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MCTP2 CL E G H | 55784 | 1596 | | | | ORPHA | 1 | | 103 | 25636 | 616297 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MECP2 CL E G H | 4204 | 778 | | | | ORPHA | 1 | | 1778 | 6990 | 300005 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MECP2 CL E G H | 4204 | 3095 | | | | ORPHA | 1 | | 1778 | 6990 | 300005 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MECP2 CL E G H | 4204 | 300260 | MECP2 duplication syndrome | 300260 | C1846058 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MECP2 CL E G H | 4204 | 300055 | Mental retardation, X-linked, syndromic 13 | 300055 | C1968550 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MED25 CL E G H | 81857 | 616449 | Basel-Vanagaite-Smirin-Yosef syndrome | 616449 | C4225323 | OMIM | 1 | | 525 | 28845 | 610197 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MEIS2 CL E G H | 4212 | 261190 | | | | ORPHA | 1 | | 100 | 7001 | 601740 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MEIS2 CL E G H | 4212 | 600987 | Cleft palate, cardiac defects, and mental retardation | 600987 | C1832950 | OMIM | 1 | | 100 | 7001 | 601740 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MFF CL E G H | 56947 | 617086 | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 617086 | C4310726 | OMIM | 1 | | 117 | 24858 | 614785 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MFSD2A CL E G H | 84879 | 2512 | | | | ORPHA | 1 | | 79 | 25897 | 614397 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MGAT2 CL E G H | 4247 | 212066 | Carbohydrate-deficient glycoprotein syndrome type II | 212066 | C2931008 | OMIM | 1 | | 123 | 7045 | 602616 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MIR17HG CL E G H | 407975 | 614326 | Feingold syndrome 2 | 614326 | C3280489 | OMIM | 1 | | 83 | 23564 | 609415 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MKS1 CL E G H | 54903 | 564 | | | | ORPHA | 1 | | 662 | 7121 | 609883 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MKS1 CL E G H | 54903 | 249000 | Meckel syndrome type 1 | 249000 | C3714506 | OMIM | 1 | | 662 | 7121 | 609883 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MMACHC CL E G H | 25974 | 79282 | | | | ORPHA | 1 | | 432 | 24525 | 609831 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MMACHC CL E G H | 25974 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 432 | 24525 | 609831 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MOCS1 CL E G H | 4337 | 252150 | Molybdenum cofactor deficiency, complementation group A | 252150 | C1854988 | OMIM | 1 | | 438 | 7190 | 603707 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MOCS2 CL E G H | 4338 | 252160 | Molybdenum cofactor deficiency, complementation group B | 252160 | C1854989 | OMIM | 1 | | 239 | 7193 | 603708 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MPDU1 CL E G H | 9526 | 609180 | Congenital disorder of glycosylation type 1F | 609180 | C1836669 | OMIM | 1 | | 105 | 7207 | 604041 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MPLKIP CL E G H | 136647 | 234050 | Trichothiodystrophy, nonphotosensitive 1 | 234050 | C1961117 | OMIM | 1 | | 104 | 16002 | 609188 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MRPS22 CL E G H | 56945 | 611719 | Combined oxidative phosphorylation deficiency 5 | 611719 | C2673642 | OMIM | 1 | | 144 | 14508 | 605810 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MSMO1 CL E G H | 6307 | 616834 | Microcephaly, congenital cataract, and psoriasiform dermatitis | 616834 | C4225189 | OMIM | 1 | | 81 | 10545 | 607545 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MTHFR CL E G H | 4524 | 236250 | Homocysteinemia due to MTHFR deficiency | 236250 | C1856058 | OMIM | 1 | | 563 | 7436 | 607093 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MVK CL E G H | 4598 | 29 | | | | ORPHA | 1 | | 470 | 7530 | 251170 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MVK CL E G H | 4598 | 610377 | Mevalonic aciduria | 610377 | C1959626 | OMIM | 1 | | 470 | 7530 | 251170 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MYCN CL E G H | 4613 | 164280 | Feingold syndrome 1 | 164280 | C0796068 | OMIM | 1 | | 146 | 7559 | 164840 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MYH3 CL E G H | 4621 | 193700 | Freeman-Sheldon syndrome | 193700 | C0265224 | OMIM | 1 | | 641 | 7573 | 160720 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MYMK CL E G H | 389827 | 1358 | | | | ORPHA | 1 | | 75 | 33778 | 615345 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MYMK CL E G H | 389827 | 254940 | Congenital nonprogressive myopathy with Moebius and Robin sequences | 254940 | C1850746 | OMIM | 1 | | 75 | 33778 | 615345 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | MYO18B CL E G H | 84700 | 616549 | Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism | 616549 | C4225285 | OMIM | 1 | | 1162 | 18150 | 607295 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NAA10 CL E G H | 8260 | 568 | Aggressive fibromatosis | | | ORPHA | 1 | | 361 | 18704 | 300013 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NAA10 CL E G H | 8260 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 361 | 18704 | 300013 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NAA10 CL E G H | 8260 | 300855 | N-terminal acetyltransferase deficiency | 300855 | C3275447 | OMIM | 1 | | 361 | 18704 | 300013 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NACC1 CL E G H | 112939 | 617393 | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | 617393 | C4479333 | OMIM | 1 | | 239 | 20967 | 610672 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NADK2 CL E G H | 133686 | 431361 | | | | ORPHA | 1 | | 164 | 26404 | 615787 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NADK2 CL E G H | 133686 | 616034 | 2,4-Dienoyl-CoA reductase deficiency | 616034 | C1857252 | OMIM | 1 | | 164 | 26404 | 615787 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NALCN CL E G H | 259232 | 615419 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 615419 | C3809454 | OMIM | 1 | | 653 | 19082 | 611549 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NANS CL E G H | 54187 | 610442 | Spondyloepimetaphyseal dysplasia Genevieve type | 610442 | C1864872 | OMIM | 1 | | 119 | 19237 | 605202 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NARS2 CL E G H | 79731 | 616239 | Combined oxidative phosphorylation deficiency 24 | 616239 | C4015643 | OMIM | 1 | | 206 | 26274 | 612803 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NAT8L CL E G H | 339983 | 614063 | N-acetylaspartate deficiency | 614063 | C3279716 | OMIM | 1 | | 145 | 26742 | 610647 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NBN CL E G H | 4683 | 647 | | | | ORPHA | 1 | | 3074 | 7652 | 602667 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NBN CL E G H | 4683 | 251260 | Microcephaly, normal intelligence and immunodeficiency | 251260 | C0398791 | OMIM | 1 | | 3074 | 7652 | 602667 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NCAPD3 CL E G H | 23310 | 2512 | | | | ORPHA | 1 | | 137 | 28952 | 609276 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NDE1 CL E G H | 54820 | 614019 | Lissencephaly 4 | 614019 | C3151461 | OMIM | 1 | | 1483 | 17619 | 609449 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NDE1 CL E G H | 54820 | 605013 | Microhydranencephaly | 605013 | C1857977 | OMIM | 1 | | 1483 | 17619 | 609449 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NDUFB11 CL E G H | 54539 | 309801 | Linear skin defects with multiple congenital anomalies 1 | 309801 | C0796070 | OMIM | 1 | | 180 | 20372 | 300403 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NELFA CL E G H | 7469 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 174 | 12768 | 606026 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NF1 CL E G H | 4763 | 139474 | | | | ORPHA | 1 | | 10917 | 7765 | 613113 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NHEJ1 CL E G H | 79840 | 169079 | | | | ORPHA | 1 | | 185 | 25737 | 611290 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 153 | 14377 | 606470 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NIN CL E G H | 51199 | 614851 | Seckel syndrome 7 | 614851 | C3553870 | OMIM | 1 | | 221 | 14906 | 608684 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NIPBL CL E G H | 25836 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 1201 | 28862 | 608667 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NIPBL CL E G H | 25836 | 122470 | Cornelia de Lange syndrome 1 | 122470 | CN029798 | OMIM | 1 | | 1201 | 28862 | 608667 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NODAL CL E G H | 4838 | 280200 | | | | ORPHA | 1 | | 130 | 7865 | 601265 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 89 | 14378 | 606471 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NSD1 CL E G H | 64324 | 228415 | | | | ORPHA | 1 | | 1390 | 14234 | 606681 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NSD2 CL E G H | 7468 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 363 | 12766 | 602952 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NSD2 CL E G H | 7468 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 363 | 12766 | 602952 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NSDHL CL E G H | 50814 | 300831 | NSDHL-Related Disorders | 300831 | C3151781 | OMIM | 1 | | 312 | 13398 | 300275 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NSMCE2 CL E G H | 286053 | 617253 | Seckel syndrome 10 | 617253 | C4310647 | OMIM | 1 | | 86 | 26513 | 617246 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NSUN2 CL E G H | 54888 | 235 | | | | ORPHA | 1 | | 443 | 25994 | 610916 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NSUN2 CL E G H | 54888 | 611091 | Mental retardation, autosomal recessive 5 | 611091 | C1970199 | OMIM | 1 | | 443 | 25994 | 610916 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NTNG1 CL E G H | 22854 | 3095 | | | | ORPHA | 1 | | 45 | 23319 | 608818 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NUP107 CL E G H | 57122 | 2065 | | | | ORPHA | 1 | | 149 | 29914 | 607617 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | NUS1 CL E G H | 116150 | 617082 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa | 617082 | C4310727 | OMIM | 1 | | 220 | 21042 | 610463 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | OCLN CL E G H | 100506658 | 1229 | | | | ORPHA | 1 | | 103 | 8104 | 602876 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | OCLN CL E G H | 100506658 | 251290 | Band-like calcification with simplified gyration and polymicrogyria | 251290 | C3489725 | OMIM | 1 | | 103 | 8104 | 602876 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | OFD1 CL E G H | 8481 | 311200 | Oral-facial-digital syndrome | 311200 | C1510460 | OMIM | 1 | | 789 | 2567 | 300170 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ORC1 CL E G H | 4998 | 2554 | | | | ORPHA | 1 | | 214 | 8487 | 601902 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ORC1 CL E G H | 4998 | 224690 | Meier-Gorlin syndrome 1 | 224690 | CN030358 | OMIM | 1 | | 214 | 8487 | 601902 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ORC4 CL E G H | 5000 | 2554 | | | | ORPHA | 1 | | 166 | 8490 | 603056 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ORC4 CL E G H | 5000 | 613800 | Meier-Gorlin syndrome 2 | 613800 | C3151097 | OMIM | 1 | | 166 | 8490 | 603056 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ORC6 CL E G H | 23594 | 2554 | | | | ORPHA | 1 | | 131 | 17151 | 607213 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ORC6 CL E G H | 23594 | 613803 | Meier-Gorlin syndrome 3 | 613803 | C3151113 | OMIM | 1 | | 131 | 17151 | 607213 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | OSGEP CL E G H | 55644 | 2065 | | | | ORPHA | 1 | | 106 | 18028 | 610107 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | OSTM1 CL E G H | 28962 | 259720 | Osteopetrosis, autosomal recessive 5 | 259720 | C1968603 | OMIM | 1 | | 218 | 21652 | 607649 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | OTUD6B CL E G H | 51633 | 505237 | | | | ORPHA | 1 | | 70 | 24281 | 612021 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | OTUD6B CL E G H | 51633 | 617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 617452 | C4479520 | OMIM | 1 | | 70 | 24281 | 612021 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PAH CL E G H | 5053 | 79254 | | | | ORPHA | 1 | | 1316 | 8582 | 612349 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PAH CL E G H | 5053 | 2209 | Exsudative retinopathy familial, autosomal recessive | | | ORPHA | 1 | | 1316 | 8582 | 612349 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PAH CL E G H | 5053 | 261600 | Phenylketonuria | 261600 | C0031485 | OMIM | 1 | | 1316 | 8582 | 612349 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PAK3 CL E G H | 5063 | 300558 | Mental retardation 30, X-linked | 300558 | C0796237 | OMIM | 1 | | 292 | 8592 | 300142 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PALB2 CL E G H | 79728 | 84 | | | | ORPHA | 1 | | 4831 | 26144 | 610355 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PALB2 CL E G H | 79728 | 610832 | Fanconi anemia, complementation group N | 610832 | C1835817 | OMIM | 1 | | 4831 | 26144 | 610355 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PARN CL E G H | 5073 | 3322 | | | | ORPHA | 1 | | 443 | 8609 | 604212 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PARN CL E G H | 5073 | 616353 | Dyskeratosis congenita, autosomal recessive 6 | 616353 | C4225356 | OMIM | 1 | | 443 | 8609 | 604212 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PAX3 CL E G H | 5077 | 896 | | | | ORPHA | 1 | | 295 | 8617 | 606597 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PAX3 CL E G H | 5077 | 148820 | Klein-Waardenberg's syndrome | 148820 | C0342680 | OMIM | 1 | | 295 | 8617 | 606597 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PAX6 CL E G H | 5080 | 893 | | | | ORPHA | 1 | | 688 | 8620 | 607108 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PCDH12 CL E G H | 51294 | 251280 | Microcephaly with spastic quadriplegia | 251280 | C1855055 | OMIM | 1 | | 228 | 8657 | 605622 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PCNT CL E G H | 5116 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 1505 | 16068 | 605925 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PCNT CL E G H | 5116 | 2637 | Hemimegalencephaly | | | ORPHA | 1 | | 1505 | 16068 | 605925 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PCNT CL E G H | 5116 | 210720 | Microcephalic osteodysplastic primordial dwarfism type 2 | 210720 | C0432246 | OMIM | 1 | | 1505 | 16068 | 605925 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PDGFB CL E G H | 5155 | 1980 | | | | ORPHA | 1 | | 105 | 8800 | 190040 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PDGFRB CL E G H | 5159 | 1980 | | | | ORPHA | 1 | | 345 | 8804 | 173410 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 601 | 8806 | 300502 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PDHX CL E G H | 8050 | 245349 | Pyruvate dehydrogenase E3-binding protein deficiency | 245349 | C1855553 | OMIM | 1 | | 282 | 21350 | 608769 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PEX1 CL E G H | 5189 | 912 | | | | ORPHA | 1 | | 1205 | 8850 | 602136 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PEX10 CL E G H | 5192 | 912 | | | | ORPHA | 1 | | 654 | 8851 | 602859 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PEX11B CL E G H | 8799 | 912 | | | | ORPHA | 1 | | 350 | 8853 | 603867 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PEX12 CL E G H | 5193 | 912 | | | | ORPHA | 1 | | 360 | 8854 | 601758 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PEX13 CL E G H | 5194 | 912 | | | | ORPHA | 1 | | 397 | 8855 | 601789 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PEX14 CL E G H | 5195 | 912 | | | | ORPHA | 1 | | 374 | 8856 | 601791 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PEX16 CL E G H | 9409 | 912 | | | | ORPHA | 1 | | 346 | 8857 | 603360 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PEX19 CL E G H | 5824 | 912 | | | | ORPHA | 1 | | 304 | 9713 | 600279 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PEX19 CL E G H | 5824 | 614886 | Peroxisome biogenesis disorder 12A | 614886 | C3554002 | OMIM | 1 | | 304 | 9713 | 600279 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PEX2 CL E G H | 5828 | 912 | | | | ORPHA | 1 | | 366 | 9717 | 170993 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PEX26 CL E G H | 55670 | 912 | | | | ORPHA | 1 | | 431 | 22965 | 608666 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PEX3 CL E G H | 8504 | 912 | | | | ORPHA | 1 | | 271 | 8858 | 603164 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PEX5 CL E G H | 5830 | 912 | | | | ORPHA | 1 | | 689 | 9719 | 600414 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PEX5 CL E G H | 5830 | 616716 | Rhizomelic chondrodysplasia punctata type 5 | 616716 | C4225237 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PEX6 CL E G H | 5190 | 912 | | | | ORPHA | 1 | | 1085 | 8859 | 601498 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PEX7 CL E G H | 5191 | 215100 | Rhizomelic chondrodysplasia punctata type 1 | 215100 | C1859133 | OMIM | 1 | | 441 | 8860 | 601757 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PGAP1 CL E G H | 80055 | 615802 | Mental retardation, autosomal recessive 42 | 615802 | C4014343 | OMIM | 1 | | 261 | 25712 | 611655 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PHC1 CL E G H | 1911 | 2512 | | | | ORPHA | 1 | | 86 | 3182 | 602978 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PHC1 CL E G H | 1911 | 615414 | Primary autosomal recessive microcephaly 11 | 615414 | C3809431 | OMIM | 1 | | 86 | 3182 | 602978 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PHF6 CL E G H | 84295 | 301900 | Borjeson-Forssman-Lehmann syndrome | 301900 | C0265339 | OMIM | 1 | | 285 | 18145 | 300414 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PHGDH CL E G H | 26227 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 1 | | 519 | 8923 | 606879 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PHGDH CL E G H | 26227 | 256520 | Neu-Laxova syndrome 1 | 256520 | CN032230 | OMIM | 1 | | 519 | 8923 | 606879 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PIEZO2 CL E G H | 63895 | 2461 | | | | ORPHA | 1 | | 755 | 26270 | 613629 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PIEZO2 CL E G H | 63895 | 248700 | Marden-Walker syndrome | 248700 | C0796033 | OMIM | 1 | | 755 | 26270 | 613629 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PIGY CL E G H | 84992 | 616809 | Hyperphosphatasia with mental retardation syndrome 6 | 616809 | C4225201 | OMIM | 1 | | 36 | 28213 | 610662 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PLAA CL E G H | 9373 | 521426 | | | | ORPHA | 1 | | 338 | 9043 | 603873 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PLK4 CL E G H | 10733 | 2518 | | | | ORPHA | 1 | | 407 | 11397 | 605031 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PLK4 CL E G H | 10733 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 407 | 11397 | 605031 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PLK4 CL E G H | 10733 | 616171 | Microcephaly and chorioretinopathy, autosomal recessive, 2 | 616171 | C4015388 | OMIM | 1 | | 407 | 11397 | 605031 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PLP1 CL E G H | 5354 | 312080 | Pelizaeus-Merzbacher disease | 312080 | C0205711 | OMIM | 1 | | 391 | 9086 | 300401 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PMM2 CL E G H | 5373 | 212065 | Carbohydrate-deficient glycoprotein syndrome type I | 212065 | C0349653 | OMIM | 1 | | 609 | 9115 | 601785 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | POC1A CL E G H | 25886 | 614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | C3542022 | OMIM | 1 | | 93 | 24488 | 614783 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | POGZ CL E G H | 23126 | 616364 | White-sutton syndrome | 616364 | C4225351 | OMIM | 1 | | 478 | 18801 | 614787 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | POLG CL E G H | 5428 | 726 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | POLR1A CL E G H | 25885 | 616462 | Acrofacial dysostosis, Cincinnati type | 616462 | C4225317 | OMIM | 1 | | 415 | 17264 | 616404 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | POMGNT1 CL E G H | 55624 | 613151 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 | 613151 | C3150412 | OMIM | 1 | | 943 | 19139 | 606822 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | POMGNT1 CL E G H | 55624 | 253280 | Muscle eye brain disease | 253280 | C0457133 | OMIM | 1 | | 943 | 19139 | 606822 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | POMT1 CL E G H | 10585 | 86812 | | | | ORPHA | 1 | | 737 | 9202 | 607423 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | POMT1 CL E G H | 10585 | 613155 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 | 613155 | C3150415 | OMIM | 1 | | 737 | 9202 | 607423 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | POMT1 CL E G H | 10585 | 609308 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 | 609308 | C1836373 | OMIM | 1 | | 737 | 9202 | 607423 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | POMT1 CL E G H | 10585 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 737 | 9202 | 607423 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | POMT2 CL E G H | 29954 | 613150 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 613150 | C3150411 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | POMT2 CL E G H | 29954 | 613156 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 | 613156 | C3150416 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | POMT2 CL E G H | 29954 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | POR CL E G H | 5447 | 201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 201750 | C1860042 | OMIM | 1 | | 402 | 9208 | 124015 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PORCN CL E G H | 64840 | 305600 | Focal dermal hypoplasia | 305600 | C0016395 | OMIM | 1 | | 248 | 17652 | 300651 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PPP1R15B CL E G H | 84919 | 616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | 616817 | C4225195 | OMIM | 1 | | 40 | 14951 | 613257 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PQBP1 CL E G H | 10084 | 93946 | | | | ORPHA | 1 | | 269 | 9330 | 300463 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PQBP1 CL E G H | 10084 | 93947 | | | | ORPHA | 1 | | 269 | 9330 | 300463 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PQBP1 CL E G H | 10084 | 309500 | Renpenning syndrome 1 | 309500 | C0796135 | OMIM | 1 | | 269 | 9330 | 300463 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PRDM16 CL E G H | 63976 | 1606 | | | | ORPHA | 1 | | 1081 | 14000 | 605557 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PRDX1 CL E G H | 5052 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 40 | 9352 | 176763 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PRKD1 CL E G H | 5587 | 617364 | Congenital heart defects and ectodermal dysplasia | 617364 | C4479250 | OMIM | 1 | | 97 | 9407 | 605435 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PRKDC CL E G H | 5591 | 615966 | Immunodeficiency 26 with or without neurologic abnormalities | 615966 | C4014833 | OMIM | 1 | | 2761 | 9413 | 600899 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PRMT7 CL E G H | 54496 | 617157 | Short stature, brachydactyly, intellectual developmental disability, and seizures | 617157 | C4310689 | OMIM | 1 | | 131 | 25557 | 610087 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PRUNE1 CL E G H | 58497 | 617481 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 617481 | C4479566 | OMIM | 1 | | 41 | 13420 | 617413 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PSAT1 CL E G H | 29968 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 1 | | 443 | 19129 | 610936 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PSAT1 CL E G H | 29968 | 616038 | Neu-laxova syndrome 2 | 616038 | C4015019 | OMIM | 1 | | 443 | 19129 | 610936 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PTCH1 CL E G H | 5727 | 280200 | | | | ORPHA | 1 | | 3848 | 9585 | 601309 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PTF1A CL E G H | 256297 | 609069 | Diabetes mellitus, permanent neonatal, with cerebellar agenesis | 609069 | C1836780 | OMIM | 1 | | 85 | 23734 | 607194 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PTS CL E G H | 5805 | 261640 | 6-pyruvoyl-tetrahydropterin synthase deficiency | 261640 | C0878676 | OMIM | 1 | | 214 | 9689 | 612719 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PUF60 CL E G H | 22827 | 615583 | Verheij syndrome | 615583 | C3810023 | OMIM | 1 | | 190 | 17042 | 604819 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PUS1 CL E G H | 80324 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 337 | 15508 | 608109 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PUS1 CL E G H | 80324 | 600462 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | 600462 | C1838103 | OMIM | 1 | | 337 | 15508 | 608109 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PUS3 CL E G H | 83480 | 617051 | Mental retardation, autosomal recessive 55 | 617051 | C4310745 | OMIM | 1 | | 218 | 25461 | 616283 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PYCR1 CL E G H | 5831 | 612940 | Autosomal recessive cutis laxa type 2B | 612940 | C2751987 | OMIM | 1 | | 208 | 9721 | 179035 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | PYCR2 CL E G H | 29920 | 2512 | | | | ORPHA | 1 | | 104 | 30262 | 616406 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | QARS CL E G H | 5859 | 615760 | Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | 615760 | C4014239 | OMIM | 1 | | | 9751 | 603727 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | QDPR CL E G H | 5860 | 226 | | | | ORPHA | 1 | | 259 | 9752 | 612676 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 259 | 9752 | 612676 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RAB18 CL E G H | 22931 | 2510 | | | | ORPHA | 1 | | 180 | 14244 | 602207 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RAB3GAP1 CL E G H | 22930 | 2510 | | | | ORPHA | 1 | | 317 | 17063 | 602536 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RAB3GAP1 CL E G H | 22930 | 1387 | Cleft palate cardiac defect ectrodactyly | | | ORPHA | 1 | | 317 | 17063 | 602536 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RAB3GAP1 CL E G H | 22930 | 600118 | Warburg micro syndrome 1 | 600118 | C1838625 | OMIM | 1 | | 317 | 17063 | 602536 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RAB3GAP2 CL E G H | 25782 | 2510 | | | | ORPHA | 1 | | 474 | 17168 | 609275 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RAB3GAP2 CL E G H | 25782 | 1387 | Cleft palate cardiac defect ectrodactyly | | | ORPHA | 1 | | 474 | 17168 | 609275 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RAB3GAP2 CL E G H | 25782 | 212720 | Martsolf syndrome | 212720 | C0796037 | OMIM | 1 | | 474 | 17168 | 609275 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RAD21 CL E G H | 5885 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 293 | 9811 | 606462 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RAD21 CL E G H | 5885 | 614701 | Cornelia de Lange syndrome 4 | 614701 | C3553517 | OMIM | 1 | | 293 | 9811 | 606462 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RAD50 CL E G H | 10111 | 613078 | Nijmegen breakage syndrome-like disorder | 613078 | C2751318 | OMIM | 1 | | 3571 | 9816 | 604040 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RAD51 CL E G H | 5888 | 84 | | | | ORPHA | 1 | | 260 | 9817 | 179617 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RAD51 CL E G H | 5888 | 617244 | Fanconi anemia, complementation group R | 617244 | C4284093 | OMIM | 1 | | 260 | 9817 | 179617 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RAD51C CL E G H | 5889 | 84 | | | | ORPHA | 1 | | 1657 | 9820 | 602774 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RAP1A CL E G H | 5906 | 2322 | | | | ORPHA | 1 | | 38 | 9855 | 179520 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RAP1B CL E G H | 5908 | 2322 | | | | ORPHA | 1 | | 30 | 9857 | 179530 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RARS CL E G H | 5917 | 616140 | Leukodystrophy, hypomyelinating, 9 | 616140 | C4015323 | OMIM | 1 | | | 9870 | 107820 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RB1 CL E G H | 5925 | 1587 | Craniosynostosis arthrogryposis cleft palate | | | ORPHA | 1 | | 2487 | 9884 | 614041 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RBBP8 CL E G H | 5932 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 237 | 9891 | 604124 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RBBP8 CL E G H | 5932 | 606744 | Seckel syndrome 2 | 606744 | C1847572 | OMIM | 1 | | 237 | 9891 | 604124 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RBM28 CL E G H | 55131 | 612079 | Alopecia, neurologic defects, and endocrinopathy syndrome | 612079 | C2677535 | OMIM | 1 | | 53 | 21863 | 612074 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RBPJ CL E G H | 3516 | 614814 | Adams-Oliver syndrome 3 | 614814 | C3553748 | OMIM | 1 | | 141 | 5724 | 147183 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RELN CL E G H | 5649 | 257320 | Lissencephaly 2 | 257320 | C0796089 | OMIM | 1 | | 2421 | 9957 | 600514 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | REN CL E G H | 5972 | 267430 | Renal dysplasia | 267430 | C3536714 | OMIM | 1 | | 101 | 9958 | 179820 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RERE CL E G H | 473 | 1606 | | | | ORPHA | 1 | | 343 | 9965 | 605226 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RFC2 CL E G H | 5982 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 180 | 9970 | 600404 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RFT1 CL E G H | 91869 | 244310 | | | | ORPHA | 1 | | 399 | 30220 | 611908 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RFT1 CL E G H | 91869 | 612015 | Congenital disorder of glycosylation type 1N | 612015 | C2677590 | OMIM | 1 | | 399 | 30220 | 611908 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RFWD3 CL E G H | 55159 | 84 | | | | ORPHA | 1 | | 64 | 25539 | 614151 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RIPK4 CL E G H | 54101 | 1234 | Chang Davidson Carlson syndrome | | | ORPHA | 1 | | 272 | 496 | 605706 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RLIM CL E G H | 51132 | 300978 | Mental retardation, X-linked 61 | 300978 | C4283894 | OMIM | 1 | | 187 | 13429 | 300379 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 1 | | 314 | 18518 | 606034 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 1 | | 334 | 25671 | 610326 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 1 | | 235 | 24116 | 610330 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RNU4ATAC CL E G H | 100151683 | 1824 | Devriendt Legius Fryns syndrome | | | ORPHA | 1 | | 214 | 34016 | 601428 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RNU4ATAC CL E G H | 100151683 | 2636 | Hemihypertrophy intestinal web corneal opacity | | | ORPHA | 1 | | 214 | 34016 | 601428 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RNU4ATAC CL E G H | 100151683 | 210710 | Osteodysplastic primordial dwarfism, type 1 | 210710 | C1859452 | OMIM | 1 | | 214 | 34016 | 601428 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RPGRIP1 CL E G H | 57096 | 564 | | | | ORPHA | 1 | | 786 | 13436 | 605446 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RPGRIP1L CL E G H | 23322 | 564 | | | | ORPHA | 1 | | 1135 | 29168 | 610937 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RPL10 CL E G H | 6134 | 435938 | | | | ORPHA | 1 | | 265 | 10298 | 312173 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RPS19 CL E G H | 6223 | 105650 | Diamond-Blackfan anemia 1 | 105650 | C2676137 | OMIM | 1 | | 172 | 10402 | 603474 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RPS23 CL E G H | 6228 | 617412 | MacInnes syndrome | 617412 | C4479431 | OMIM | 1 | | 16 | 10410 | 603683 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RPS6KA3 CL E G H | 6197 | 303600 | Coffin-Lowry syndrome | 303600 | C0265252 | OMIM | 1 | | 426 | 10432 | 300075 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RPS6KA3 CL E G H | 6197 | 192 | Karandikar Maria Kamble syndrome | | | ORPHA | 1 | | 426 | 10432 | 300075 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RSPRY1 CL E G H | 89970 | 616723 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | 616723 | C4225232 | OMIM | 1 | | 97 | 29420 | 616585 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RTEL1 CL E G H | 51750 | 3322 | | | | ORPHA | 1 | | 2005 | 15888 | 608833 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | RTEL1 CL E G H | 51750 | 615190 | Dyskeratosis congenita, autosomal recessive, 5 | 615190 | C3554656 | OMIM | 1 | | 2005 | 15888 | 608833 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SALL1 CL E G H | 6299 | 107480 | Townes-Brocks syndrome 1 | 107480 | CN034849 | OMIM | 1 | | 302 | 10524 | 602218 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 1 | | 548 | 15925 | 606754 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SASS6 CL E G H | 163786 | 2512 | | | | ORPHA | 1 | | 80 | 25403 | 609321 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SASS6 CL E G H | 163786 | 616402 | Primary autosomal recessive microcephaly 14 | 616402 | C4225338 | OMIM | 1 | | 80 | 25403 | 609321 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SATB2 CL E G H | 23314 | 612313 | Chromosome 2q32-q33 deletion syndrome | 612313 | C2676739 | OMIM | 1 | | 566 | 21637 | 608148 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SBF1 CL E G H | 6305 | 615284 | Charcot-Marie-Tooth disease, type 4B3 | 615284 | C3695063 | OMIM | 1 | | 1157 | 10542 | 603560 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 220 | 10547 | 602286 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SEMA3E CL E G H | 9723 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 451 | 10727 | 608166 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SEMA5A CL E G H | 9037 | 281 | Ramer Ladda syndrome | | | ORPHA | 1 | | 174 | 10736 | 609297 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SET CL E G H | 6418 | 618106 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 | 618106 | CN253713 | OMIM | 1 | | 93 | 10760 | 600960 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SETD5 CL E G H | 55209 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 617 | 25566 | 615743 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SF3B4 CL E G H | 10262 | 154400 | Nager syndrome | 154400 | C0265245 | OMIM | 1 | | 86 | 10771 | 605593 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SHH CL E G H | 6469 | 280200 | | | | ORPHA | 1 | | 340 | 10848 | 600725 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SHROOM4 CL E G H | 57477 | 300434 | Stocco dos Santos syndrome | 300434 | C1845530 | OMIM | 1 | | 275 | 29215 | 300579 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SIL1 CL E G H | 64374 | 248800 | Marinesco-Sjögren syndrome | 248800 | C0024814 | OMIM | 1 | | 229 | 24624 | 608005 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SIN3A CL E G H | 25942 | 94065 | | | | ORPHA | 1 | | 218 | 19353 | 607776 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SIN3A CL E G H | 25942 | 613406 | Witteveen-kolk syndrome | 613406 | C3150674 | OMIM | 1 | | 218 | 19353 | 607776 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SIX3 CL E G H | 6496 | 280200 | | | | ORPHA | 1 | | 136 | 10889 | 603714 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SIX3 CL E G H | 6496 | 157170 | Holoprosencephaly 2 | 157170 | C1834877 | OMIM | 1 | | 136 | 10889 | 603714 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SIX6 CL E G H | 4990 | 206900 | Microphthalmia syndromic 3 | 206900 | C1859773 | OMIM | 1 | | 78 | 10892 | 606326 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SKI CL E G H | 6497 | 1606 | | | | ORPHA | 1 | | 910 | 10896 | 164780 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SLC12A6 CL E G H | 9990 | 1496 | Congenital mitral stenosis | | | ORPHA | 1 | | 911 | 10914 | 604878 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 568 | 23089 | 608305 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SLC16A2 CL E G H | 6567 | 300523 | Allan-Herndon-Dudley syndrome | 300523 | C0795889 | OMIM | 1 | | 355 | 10923 | 300095 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SLC20A2 CL E G H | 6575 | 1980 | | | | ORPHA | 1 | | 281 | 10947 | 158378 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SLC25A19 CL E G H | 60386 | 99742 | | | | ORPHA | 1 | | 136 | 14409 | 606521 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SLC2A1 CL E G H | 6513 | 608885 | Stomatin-deficient cryohydrocytosis with neurologic defects | 608885 | C1837206 | OMIM | 1 | | 827 | 11005 | 138140 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 108 | 11021 | 605634 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SLC35A2 CL E G H | 7355 | 300896 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm | 300896 | C3806688 | OMIM | 1 | | 369 | 11022 | 314375 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SLC35A3 CL E G H | 23443 | 615553 | Arthrogryposis, mental retardation, and seizures | 615553 | C3809910 | OMIM | 1 | | 199 | 11023 | 605632 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SLC35C1 CL E G H | 55343 | 266265 | Congenital disorder of glycosylation type 2C | 266265 | C0398739 | OMIM | 1 | | 250 | 20197 | 605881 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SLC6A8 CL E G H | 6535 | 300352 | Creatine deficiency, X-linked | 300352 | C1845862 | OMIM | 1 | | 903 | 11055 | 300036 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SLC9A6 CL E G H | 10479 | 85278 | | | | ORPHA | 1 | | 536 | 11079 | 300231 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SLC9A6 CL E G H | 10479 | 300243 | Christianson syndrome | 300243 | C2678194 | OMIM | 1 | | 536 | 11079 | 300231 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SLX4 CL E G H | 84464 | 84 | | | | ORPHA | 1 | | 1607 | 23845 | 613278 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SMAD4 CL E G H | 4089 | 139210 | Myhre syndrome | 139210 | C0796081 | OMIM | 1 | | 1739 | 6770 | 600993 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SMARCA2 CL E G H | 6595 | 3051 | | | | ORPHA | 1 | | 886 | 11098 | 600014 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SMARCA2 CL E G H | 6595 | 601358 | Nicolaides-Baraitser syndrome | 601358 | C1303073 | OMIM | 1 | | 886 | 11098 | 600014 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SMARCA4 CL E G H | 6597 | 1465 | | | | ORPHA | 1 | | 4367 | 11100 | 603254 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SMARCB1 CL E G H | 6598 | 1465 | | | | ORPHA | 1 | | 901 | 11103 | 601607 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SMARCE1 CL E G H | 6605 | 1465 | | | | ORPHA | 1 | | 660 | 11109 | 603111 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SMARCE1 CL E G H | 6605 | 616938 | Coffin-Siris syndrome 5 | 616938 | C4310788 | OMIM | 1 | | 660 | 11109 | 603111 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SMC1A CL E G H | 8243 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 798 | 11111 | 300040 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SMC1A CL E G H | 8243 | 300590 | Congenital muscular hypertrophy-cerebral syndrome | 300590 | C1802395 | OMIM | 1 | | 798 | 11111 | 300040 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SMC3 CL E G H | 9126 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 358 | 2468 | 606062 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SMG9 CL E G H | 56006 | 616920 | Heart and brain malformation syndrome | 616920 | C4310793 | OMIM | 1 | | 35 | 25763 | 613176 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SNAP29 CL E G H | 9342 | 66631 | | | | ORPHA | 1 | | 599 | 11133 | 604202 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SNRPB CL E G H | 6628 | 117650 | Cerebro-costo-mandibular syndrome | 117650 | C0265342 | OMIM | 1 | | 74 | 11153 | 182282 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SOX11 CL E G H | 6664 | 1465 | | | | ORPHA | 1 | | 130 | 11191 | 600898 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SOX11 CL E G H | 6664 | 615866 | Mental retardation, autosomal dominant 27 | 615866 | C4014528 | OMIM | 1 | | 130 | 11191 | 600898 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SOX2 CL E G H | 6657 | 206900 | Microphthalmia syndromic 3 | 206900 | C1859773 | OMIM | 1 | | 174 | 11195 | 184429 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SP110 CL E G H | 3431 | 235550 | Hepatic venoocclusive disease with immunodeficiency | 235550 | C1856128 | OMIM | 1 | | 341 | 5401 | 604457 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SPATA5 CL E G H | 166378 | 616577 | Epilepsy, hearing loss, and mental retardation syndrome | 616577 | C4225276 | OMIM | 1 | | 646 | 18119 | 613940 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SPR CL E G H | 6697 | 612716 | Sepiapterin reductase deficiency | 612716 | C0268468 | OMIM | 1 | | 160 | 11257 | 182125 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SSR4 CL E G H | 6748 | 370927 | | | | ORPHA | 1 | | 284 | 11326 | 300090 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SSR4 CL E G H | 6748 | 300934 | Congenital disorder of glycosylation type 1y | 300934 | C4012395 | OMIM | 1 | | 284 | 11326 | 300090 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | STAC3 CL E G H | 246329 | 255995 | Native American myopathy | 255995 | C1850625 | OMIM | 1 | | 188 | 28423 | 615521 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | STIL CL E G H | 6491 | 2512 | | | | ORPHA | 1 | | 280 | 10879 | 181590 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | STIL CL E G H | 6491 | 612703 | Primary autosomal recessive microcephaly 7 | 612703 | C2675187 | OMIM | 1 | | 280 | 10879 | 181590 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | STT3A CL E G H | 3703 | 370921 | | | | ORPHA | 1 | | 199 | 6172 | 601134 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | STT3A CL E G H | 3703 | 615596 | Congenital disorder of glycosylation type 1w | 615596 | C3810062 | OMIM | 1 | | 199 | 6172 | 601134 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | STT3B CL E G H | 201595 | 370924 | | | | ORPHA | 1 | | 129 | 30611 | 608605 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | STT3B CL E G H | 201595 | 615597 | Congenital disorder of glycosylation type 1x | 615597 | C2931007 | OMIM | 1 | | 129 | 30611 | 608605 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | STXBP1 CL E G H | 6812 | 3095 | | | | ORPHA | 1 | | 871 | 11444 | 602926 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SUCLA2 CL E G H | 8803 | 1933 | | | | ORPHA | 1 | | 309 | 11448 | 603921 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | SUFU CL E G H | 51684 | 280200 | | | | ORPHA | 1 | | 1114 | 16466 | 607035 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TAF13 CL E G H | 6884 | 2512 | | | | ORPHA | 1 | | 39 | 11546 | 600774 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TAF13 CL E G H | 6884 | 617432 | Mental retardation, autosomal recessive 60 | 617432 | C4479476 | OMIM | 1 | | 39 | 11546 | 600774 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TAF6 CL E G H | 6878 | 617126 | Alazami-Yuan syndrome | 617126 | C4310702 | OMIM | 1 | | 87 | 11540 | 602955 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TAPT1 CL E G H | 202018 | 616897 | Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type | 616897 | C4225162 | OMIM | 1 | | 223 | 26887 | 612758 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TBC1D20 CL E G H | 128637 | 2510 | | | | ORPHA | 1 | | 154 | 16133 | 611663 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TBC1D24 CL E G H | 57465 | 352596 | | | | ORPHA | 1 | | 795 | 29203 | 613577 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TBC1D24 CL E G H | 57465 | 220500 | Digitorenocerebral syndrome | 220500 | C1857345 | OMIM | 1 | | 795 | 29203 | 613577 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TBCE CL E G H | 6905 | 93324 | | | | ORPHA | 1 | | 357 | 11582 | 604934 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TBCE CL E G H | 6905 | 241410 | Hypoparathyroidism retardation dysmorphism syndrome | 241410 | C1855840 | OMIM | 1 | | 357 | 11582 | 604934 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TBCE CL E G H | 6905 | 2323 | Triple-Negative Breast Cancer Finding | | C2348819 | ORPHA | 1 | | 357 | 11582 | 604934 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TBL1XR1 CL E G H | 79718 | 602342 | Pierpont syndrome | 602342 | C1865644 | OMIM | 1 | | 402 | 29529 | 608628 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TBL2 CL E G H | 26608 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 166 | 11586 | 605842 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TBX1 CL E G H | 6899 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 972 | 11592 | 602054 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TBX4 CL E G H | 9496 | 261279 | | | | ORPHA | 1 | | 238 | 11603 | 601719 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TCF4 CL E G H | 6925 | 2896 | Hypogonadism retinitis pigmentosa | | | ORPHA | 1 | | 913 | 11634 | 602272 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 913 | 11634 | 602272 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TCTN2 CL E G H | 79867 | 564 | | | | ORPHA | 1 | | 453 | 25774 | 613846 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TCTN2 CL E G H | 79867 | 613885 | Meckel syndrome type 8 | 613885 | C3836857 | OMIM | 1 | | 453 | 25774 | 613846 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TCTN3 CL E G H | 26123 | 2753 | Hunter Macpherson syndrome | | | ORPHA | 1 | | 327 | 24519 | 613847 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TDGF1 CL E G H | 6997 | 280200 | | | | ORPHA | 1 | | 43 | 11701 | 187395 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TECPR2 CL E G H | 9895 | 320385 | | | | ORPHA | 1 | | 894 | 19957 | 615000 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TECPR2 CL E G H | 9895 | 615031 | Spastic paraplegia 49, autosomal recessive | 615031 | C3542549 | OMIM | 1 | | 894 | 19957 | 615000 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TELO2 CL E G H | 9894 | 616954 | You-Hoover-Fong syndrome | 616954 | C4310778 | OMIM | 1 | | 175 | 29099 | 611140 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TERT CL E G H | 7015 | 3322 | | | | ORPHA | 1 | | 2449 | 11730 | 187270 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TFAP2A CL E G H | 7020 | 113620 | Branchiooculofacial syndrome | 113620 | C0376524 | OMIM | 1 | | 158 | 11742 | 107580 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TGIF1 CL E G H | 7050 | 280200 | | | | ORPHA | 1 | | 232 | 11776 | 602630 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | THOC6 CL E G H | 79228 | 613680 | Beaulieu-Boycott-Innes syndrome | 613680 | C3150939 | OMIM | 1 | | 85 | 28369 | 615403 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TINF2 CL E G H | 26277 | 3322 | | | | ORPHA | 1 | | 330 | 11824 | 604319 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 330 | 11824 | 604319 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TMEM107 CL E G H | 84314 | 564 | | | | ORPHA | 1 | | 207 | 28128 | 616183 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TMEM216 CL E G H | 51259 | 564 | | | | ORPHA | 1 | | 195 | 25018 | 613277 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TMEM231 CL E G H | 79583 | 564 | | | | ORPHA | 1 | | 341 | 37234 | 614949 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TMEM260 CL E G H | 54916 | 617478 | Structural heart defects and renal anomalies syndrome | 617478 | C4479549 | OMIM | 1 | | 63 | 20185 | 617449 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TMEM67 CL E G H | 91147 | 564 | | | | ORPHA | 1 | | 674 | 28396 | 609884 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TMEM70 CL E G H | 54968 | 1194 | | | | ORPHA | 1 | | 252 | 26050 | 612418 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TP53RK CL E G H | 112858 | 2065 | | | | ORPHA | 1 | | 40 | 16197 | 608679 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TPRKB CL E G H | 51002 | 2065 | | | | ORPHA | 1 | | 22 | 24259 | 608680 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | TRAIP CL |