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 | | 162 | 13666 | 605378 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AAAS CL E G H | 8086 | 231550 | Glucocorticoid deficiency with achalasia | 231550 | C0271742 | OMIM | 1 | | 174 | 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 | | 1125 | 59 | 600509 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ABCC8 CL E G H | 6833 | 276575 | | | | ORPHA | 1 | | 1253 | 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 | | 275 | 91 | 600301 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ACADSB CL E G H | 36 | 610006 | Deficiency of 2-methylbutyryl-CoA dehydrogenase | 610006 | C1864912 | OMIM | 1 | | 290 | 91 | 600301 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 1 | | 229 | 25070 | 609377 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 1 | | 321 | 25070 | 609377 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ACD CL E G H | 65057 | 616553 | Dyskeratosis congenita, autosomal dominant 6 | 616553 | C4225284 | OMIM | 1 | | 229 | 25070 | 609377 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ACD CL E G H | 65057 | 616553 | Dyskeratosis congenita, autosomal dominant 6 | 616553 | C4225284 | OMIM | 1 | | 321 | 25070 | 609377 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ACE CL E G H | 1636 | 267430 | Renal dysplasia | 267430 | C3536714 | OMIM | 1 | | 274 | 2707 | 106180 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ACE CL E G H | 1636 | 267430 | Renal dysplasia | 267430 | C3536714 | OMIM | 1 | | 295 | 2707 | 106180 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ACTB CL E G H | 60 | 243310 | Baraitser-Winter syndrome 1 | 243310 | C1855722 | OMIM | 1 | | 322 | 132 | 102630 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ACTB CL E G H | 60 | 243310 | Baraitser-Winter syndrome 1 | 243310 | C1855722 | OMIM | 1 | | 349 | 132 | 102630 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 322 | 132 | 102630 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 349 | 132 | 102630 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 347 | 144 | 102560 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 370 | 144 | 102560 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ADAMTSL1 CL E G H | 92949 | 521445 | | | | ORPHA | 1 | | 112 | 14632 | 609198 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ADD3 CL E G H | 120 | 617008 | Cerebral palsy, spastic quadriplegic, 3 | 617008 | C4310767 | OMIM | 1 | | 52 | 245 | 601568 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ADD3 CL E G H | 120 | 617008 | Cerebral palsy, spastic quadriplegic, 3 | 617008 | C4310767 | OMIM | 1 | | 88 | 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 | | 368 | 291 | 608222 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ADSL CL E G H | 158 | 46 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 582 | 291 | 608222 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AGA CL E G H | 175 | 208400 | Aspartylglucosaminuria | 208400 | C0268225 | OMIM | 1 | | 330 | 318 | 613228 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AGA CL E G H | 175 | 208400 | Aspartylglucosaminuria | 208400 | C0268225 | OMIM | 1 | | 355 | 318 | 613228 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AGT CL E G H | 183 | 267430 | Renal dysplasia | 267430 | C3536714 | OMIM | 1 | | 143 | 333 | 106150 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AGT CL E G H | 183 | 267430 | Renal dysplasia | 267430 | C3536714 | OMIM | 1 | | 153 | 333 | 106150 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AGTR1 CL E G H | 185 | 267430 | Renal dysplasia | 267430 | C3536714 | OMIM | 1 | | 88 | 336 | 106165 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AGTR1 CL E G H | 185 | 267430 | Renal dysplasia | 267430 | C3536714 | OMIM | 1 | | 103 | 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 | | 52 | 10648 | 603605 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AIMP1 CL E G H | 9255 | 260600 | Leukodystrophy, hypomyelinating 3 | 260600 | C1850053 | OMIM | 1 | | 66 | 10648 | 603605 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ALDH18A1 CL E G H | 5832 | 616603 | Cutis laxa, autosomal dominant 3 | 616603 | C4225268 | OMIM | 1 | | 346 | 9722 | 138250 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ALDH18A1 CL E G H | 5832 | 616603 | Cutis laxa, autosomal dominant 3 | 616603 | C4225268 | OMIM | 1 | | 392 | 9722 | 138250 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ALDH18A1 CL E G H | 5832 | 616586 | Spastic paraplegia 9b, autosomal recessive | 616586 | C4225272 | OMIM | 1 | | 346 | 9722 | 138250 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ALDH18A1 CL E G H | 5832 | 616586 | Spastic paraplegia 9b, autosomal recessive | 616586 | C4225272 | OMIM | 1 | | 392 | 9722 | 138250 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ALDH6A1 CL E G H | 4329 | 614105 | Methylmalonate semialdehyde dehydrogenase deficiency | 614105 | C3279840 | OMIM | 1 | | 133 | 7179 | 603178 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ALDH6A1 CL E G H | 4329 | 614105 | Methylmalonate semialdehyde dehydrogenase deficiency | 614105 | C3279840 | OMIM | 1 | | 146 | 7179 | 603178 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ALG1 CL E G H | 56052 | 79327 | | | | ORPHA | 1 | | 260 | 18294 | 605907 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ALG1 CL E G H | 56052 | 79327 | | | | ORPHA | 1 | | 391 | 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 | | 260 | 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 | | 391 | 18294 | 605907 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ALG13 CL E G H | 79868 | 300884 | Epileptic encephalopathy, early infantile, 36 | 300884 | C3550904 | OMIM | 1 | | 633 | 30881 | 300776 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ALG13 CL E G H | 79868 | 300884 | Epileptic encephalopathy, early infantile, 36 | 300884 | C3550904 | OMIM | 1 | | 710 | 30881 | 300776 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ALG3 CL E G H | 10195 | 79321 | | | | ORPHA | 1 | | 159 | 23056 | 608750 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ALG3 CL E G H | 10195 | 79321 | | | | ORPHA | 1 | | 166 | 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 | | 159 | 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 | | 166 | 23056 | 608750 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ALG9 CL E G H | 79796 | 608776 | ALG9 congenital disorder of glycosylation | 608776 | C2931006 | OMIM | 1 | | 212 | 15672 | 606941 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ALG9 CL E G H | 79796 | 608776 | ALG9 congenital disorder of glycosylation | 608776 | C2931006 | OMIM | 1 | | 222 | 15672 | 606941 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ALX4 CL E G H | 60529 | 613451 | Frontonasal dysplasia 2 | 613451 | C3150703 | OMIM | 1 | | 245 | 450 | 605420 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ALX4 CL E G H | 60529 | 613451 | Frontonasal dysplasia 2 | 613451 | C3150703 | OMIM | 1 | | 246 | 450 | 605420 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ANK1 CL E G H | 286 | 251066 | | | | ORPHA | 1 | | 567 | 492 | 612641 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ANK1 CL E G H | 286 | 251066 | | | | ORPHA | 1 | | 604 | 492 | 612641 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ANKLE2 CL E G H | 23141 | 2512 | | | | ORPHA | 1 | | 184 | 29101 | 616062 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ANKLE2 CL E G H | 23141 | 2512 | | | | ORPHA | 1 | | 189 | 29101 | 616062 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ANKLE2 CL E G H | 23141 | 616681 | Microcephaly 16, primary, autosomal recessive | 616681 | C4225249 | OMIM | 1 | | 184 | 29101 | 616062 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ANKLE2 CL E G H | 23141 | 616681 | Microcephaly 16, primary, autosomal recessive | 616681 | C4225249 | OMIM | 1 | | 189 | 29101 | 616062 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ANKRD11 CL E G H | 29123 | 2332 | | | | ORPHA | 1 | | 1101 | 21316 | 611192 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ANKRD11 CL E G H | 29123 | 2332 | | | | ORPHA | 1 | | 1184 | 21316 | 611192 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ANKRD11 CL E G H | 29123 | 148050 | KBG syndrome | 148050 | C0220687 | OMIM | 1 | | 1101 | 21316 | 611192 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ANKRD11 CL E G H | 29123 | 148050 | KBG syndrome | 148050 | C0220687 | OMIM | 1 | | 1184 | 21316 | 611192 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP1S2 CL E G H | 8905 | 85329 | | | | ORPHA | 1 | | 216 | 560 | 300629 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP1S2 CL E G H | 8905 | 85329 | | | | ORPHA | 1 | | 219 | 560 | 300629 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP3B1 CL E G H | 8546 | 608233 | Hermansky Pudlak syndrome 2 | 608233 | C1842362 | OMIM | 1 | | 356 | 566 | 603401 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP3B1 CL E G H | 8546 | 608233 | Hermansky Pudlak syndrome 2 | 608233 | C1842362 | OMIM | 1 | | 467 | 566 | 603401 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 226 | 568 | 607246 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 394 | 568 | 607246 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP4B1 CL E G H | 10717 | 280763 | | | | ORPHA | 1 | | 189 | 572 | 607245 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP4B1 CL E G H | 10717 | 280763 | | | | ORPHA | 1 | | 254 | 572 | 607245 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP4B1 CL E G H | 10717 | 614066 | Spastic paraplegia 47, autosomal recessive | 614066 | C3279738 | OMIM | 1 | | 189 | 572 | 607245 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP4B1 CL E G H | 10717 | 614066 | Spastic paraplegia 47, autosomal recessive | 614066 | C3279738 | OMIM | 1 | | 254 | 572 | 607245 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP4E1 CL E G H | 23431 | 280763 | | | | ORPHA | 1 | | 238 | 573 | 607244 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP4E1 CL E G H | 23431 | 280763 | | | | ORPHA | 1 | | 332 | 573 | 607244 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP4E1 CL E G H | 23431 | 613744 | Spastic paraplegia 51, autosomal recessive | 613744 | C3151056 | OMIM | 1 | | 238 | 573 | 607244 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP4E1 CL E G H | 23431 | 613744 | Spastic paraplegia 51, autosomal recessive | 613744 | C3151056 | OMIM | 1 | | 332 | 573 | 607244 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP4M1 CL E G H | 9179 | 280763 | | | | ORPHA | 1 | | 199 | 574 | 602296 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP4M1 CL E G H | 9179 | 280763 | | | | ORPHA | 1 | | 264 | 574 | 602296 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP4M1 CL E G H | 9179 | 612936 | Spastic paraplegia 50, autosomal recessive | 612936 | C2752008 | OMIM | 1 | | 199 | 574 | 602296 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP4M1 CL E G H | 9179 | 612936 | Spastic paraplegia 50, autosomal recessive | 612936 | C2752008 | OMIM | 1 | | 264 | 574 | 602296 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP4S1 CL E G H | 11154 | 280763 | | | | ORPHA | 1 | | 89 | 575 | 607243 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP4S1 CL E G H | 11154 | 280763 | | | | ORPHA | 1 | | 110 | 575 | 607243 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP4S1 CL E G H | 11154 | 614067 | Spastic paraplegia 52, autosomal recessive | 614067 | C3279743 | OMIM | 1 | | 89 | 575 | 607243 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AP4S1 CL E G H | 11154 | 614067 | Spastic paraplegia 52, autosomal recessive | 614067 | C3279743 | OMIM | 1 | | 110 | 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 | | 69 | 649 | 600820 |
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 | | 95 | 649 | 600820 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 174 | 29216 | 610911 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 210 | 29216 | 610911 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARID1A CL E G H | 8289 | 1465 | | | | ORPHA | 1 | | 383 | 11110 | 603024 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARID1A CL E G H | 8289 | 1465 | | | | ORPHA | 1 | | 442 | 11110 | 603024 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARID1B CL E G H | 57492 | 1465 | | | | ORPHA | 1 | | 866 | 18040 | 614556 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARID1B CL E G H | 57492 | 1465 | | | | ORPHA | 1 | | 958 | 18040 | 614556 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARID1B CL E G H | 57492 | 251056 | | | | ORPHA | 1 | | 866 | 18040 | 614556 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARID1B CL E G H | 57492 | 251056 | | | | ORPHA | 1 | | 958 | 18040 | 614556 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 866 | 18040 | 614556 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 958 | 18040 | 614556 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARID2 CL E G H | 196528 | 1465 | | | | ORPHA | 1 | | 179 | 18037 | 609539 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARID2 CL E G H | 196528 | 1465 | | | | ORPHA | 1 | | 186 | 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 | | 565 | 18060 | 300382 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARX CL E G H | 170302 | 452 | | | | ORPHA | 1 | | 624 | 18060 | 300382 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARX CL E G H | 170302 | 2508 | | | | ORPHA | 1 | | 565 | 18060 | 300382 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARX CL E G H | 170302 | 2508 | | | | ORPHA | 1 | | 624 | 18060 | 300382 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 565 | 18060 | 300382 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 624 | 18060 | 300382 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARX CL E G H | 170302 | 300004 | Proud Levine Carpenter syndrome | 300004 | C0796124 | OMIM | 1 | | 565 | 18060 | 300382 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ARX CL E G H | 170302 | 300004 | Proud Levine Carpenter syndrome | 300004 | C0796124 | OMIM | 1 | | 624 | 18060 | 300382 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ASPM CL E G H | 259266 | 2512 | | | | ORPHA | 1 | | 920 | 19048 | 605481 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ASPM CL E G H | 259266 | 2512 | | | | ORPHA | 1 | | 1103 | 19048 | 605481 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ASPM CL E G H | 259266 | 608716 | Primary autosomal recessive microcephaly 5 | 608716 | C1837501 | OMIM | 1 | | 920 | 19048 | 605481 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ASPM CL E G H | 259266 | 608716 | Primary autosomal recessive microcephaly 5 | 608716 | C1837501 | OMIM | 1 | | 1103 | 19048 | 605481 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ASXL1 CL E G H | 171023 | 97297 | | | | ORPHA | 1 | | 298 | 18318 | 612990 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ASXL1 CL E G H | 171023 | 97297 | | | | ORPHA | 1 | | 388 | 18318 | 612990 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 298 | 18318 | 612990 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 388 | 18318 | 612990 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ASXL3 CL E G H | 80816 | 615485 | Bainbridge-Ropers syndrome | 615485 | C3809650 | OMIM | 1 | | 411 | 29357 | 615115 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ASXL3 CL E G H | 80816 | 615485 | Bainbridge-Ropers syndrome | 615485 | C3809650 | OMIM | 1 | | 432 | 29357 | 615115 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATP5F1A CL E G H | 498 | 616045 | Combined oxidative phosphorylation deficiency 22 | 616045 | C4015062 | OMIM | 1 | | 147 | 823 | 164360 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATP5F1A CL E G H | 498 | 616045 | Combined oxidative phosphorylation deficiency 22 | 616045 | C4015062 | OMIM | 1 | | 149 | 823 | 164360 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATP6V0A2 CL E G H | 23545 | 219200 | Cutis laxa with osteodystrophy | 219200 | C0268355 | OMIM | 1 | | 417 | 18481 | 611716 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATP6V0A2 CL E G H | 23545 | 219200 | Cutis laxa with osteodystrophy | 219200 | C0268355 | OMIM | 1 | | 458 | 18481 | 611716 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATP6V0A2 CL E G H | 23545 | 278250 | Wrinkly skin syndrome | 278250 | C0406587 | OMIM | 1 | | 417 | 18481 | 611716 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATP6V0A2 CL E G H | 23545 | 278250 | Wrinkly skin syndrome | 278250 | C0406587 | OMIM | 1 | | 458 | 18481 | 611716 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATP7A CL E G H | 538 | 565 | | | | ORPHA | 1 | | 897 | 869 | 300011 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATP7A CL E G H | 538 | 565 | | | | ORPHA | 1 | | 1003 | 869 | 300011 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATP7A CL E G H | 538 | 309400 | Menkes kinky-hair syndrome | 309400 | C0022716 | OMIM | 1 | | 897 | 869 | 300011 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATP7A CL E G H | 538 | 309400 | Menkes kinky-hair syndrome | 309400 | C0022716 | OMIM | 1 | | 1003 | 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 | | 209 | 18802 | 608918 |
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 | | 219 | 18802 | 608918 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATR CL E G H | 545 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 755 | 882 | 601215 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATR CL E G H | 545 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 1007 | 882 | 601215 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATR CL E G H | 545 | 210600 | Seckel syndrome 1 | 210600 | CN033164 | OMIM | 1 | | 755 | 882 | 601215 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATR CL E G H | 545 | 210600 | Seckel syndrome 1 | 210600 | CN033164 | OMIM | 1 | | 1007 | 882 | 601215 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATRIP CL E G H | 84126 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 239 | 33499 | 606605 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATRIP CL E G H | 84126 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 333 | 33499 | 606605 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATRX CL E G H | 546 | 847 | | | | ORPHA | 1 | | 1103 | 886 | 300032 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATRX CL E G H | 546 | 847 | | | | ORPHA | 1 | | 1217 | 886 | 300032 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1103 | 886 | 300032 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1217 | 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 | | 1103 | 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 | | 1217 | 886 | 300032 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AUTS2 CL E G H | 26053 | 615834 | Mental retardation, autosomal dominant 26 | 615834 | C4014435 | OMIM | 1 | | 439 | 14262 | 607270 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | AUTS2 CL E G H | 26053 | 615834 | Mental retardation, autosomal dominant 26 | 615834 | C4014435 | OMIM | 1 | | 454 | 14262 | 607270 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 226 | 20207 | 610308 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 248 | 20207 | 610308 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | B9D1 CL E G H | 27077 | 564 | | | | ORPHA | 1 | | 196 | 24123 | 614144 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | B9D1 CL E G H | 27077 | 564 | | | | ORPHA | 1 | | 230 | 24123 | 614144 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | B9D2 CL E G H | 80776 | 564 | | | | ORPHA | 1 | | 50 | 28636 | 611951 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | B9D2 CL E G H | 80776 | 564 | | | | ORPHA | 1 | | 58 | 28636 | 611951 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 191 | 961 | 605681 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 192 | 961 | 605681 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BCAP31 CL E G H | 10134 | 369939 | | | | ORPHA | 1 | | 282 | 16695 | 300398 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BCAP31 CL E G H | 10134 | 369939 | | | | ORPHA | 1 | | 301 | 16695 | 300398 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BCAP31 CL E G H | 10134 | 300475 | Chromosome Xq28 deletion syndrome | 300475 | C1845408 | OMIM | 1 | | 282 | 16695 | 300398 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BCAP31 CL E G H | 10134 | 300475 | Chromosome Xq28 deletion syndrome | 300475 | C1845408 | OMIM | 1 | | 301 | 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 | | 125 | 13221 | 606557 |
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 | | 129 | 13221 | 606557 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BCOR CL E G H | 54880 | 568 | Aggressive fibromatosis | | | ORPHA | 1 | | 502 | 20893 | 300485 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BCOR CL E G H | 54880 | 568 | Aggressive fibromatosis | | | ORPHA | 1 | | 536 | 20893 | 300485 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BCOR CL E G H | 54880 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 502 | 20893 | 300485 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BCOR CL E G H | 54880 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 536 | 20893 | 300485 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 502 | 20893 | 300485 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 536 | 20893 | 300485 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BCR CL E G H | 613 | 261330 | | | | ORPHA | 1 | | 214 | 1014 | 151410 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BCR CL E G H | 613 | 261330 | | | | ORPHA | 1 | | 217 | 1014 | 151410 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BDNF CL E G H | 627 | 893 | | | | ORPHA | 1 | | 56 | 1033 | 113505 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BLM CL E G H | 641 | 210900 | Bloom syndrome | 210900 | C0005859 | OMIM | 1 | | 2048 | 1058 | 604610 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BLM CL E G H | 641 | 210900 | Bloom syndrome | 210900 | C0005859 | OMIM | 1 | | 2425 | 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 | | 725 | 21701 | 614506 |
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 | | 847 | 21701 | 614506 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BRCA1 CL E G H | 672 | 84 | | | | ORPHA | 1 | | 12207 | 1100 | 113705 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BRCA1 CL E G H | 672 | 84 | | | | ORPHA | 1 | | 12586 | 1100 | 113705 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BRCA2 CL E G H | 675 | 84 | | | | ORPHA | 1 | | 13912 | 1101 | 600185 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BRCA2 CL E G H | 675 | 84 | | | | ORPHA | 1 | | 14742 | 1101 | 600185 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BRF1 CL E G H | 2972 | 616202 | Cerebellofaciodental syndrome | 616202 | C4015495 | OMIM | 1 | | 142 | 11551 | 604902 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BRF1 CL E G H | 2972 | 616202 | Cerebellofaciodental syndrome | 616202 | C4015495 | OMIM | 1 | | 158 | 11551 | 604902 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BRIP1 CL E G H | 83990 | 84 | | | | ORPHA | 1 | | 3464 | 20473 | 605882 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BRIP1 CL E G H | 83990 | 84 | | | | ORPHA | 1 | | 3778 | 20473 | 605882 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BUB1 CL E G H | 699 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 86 | 1148 | 602452 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BUB1 CL E G H | 699 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 88 | 1148 | 602452 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BUB1B CL E G H | 701 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 511 | 1149 | 602860 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BUB1B CL E G H | 701 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 617 | 1149 | 602860 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BUB1B CL E G H | 701 | 257300 | Mosaic variegated aneuploidy syndrome 1 | 257300 | CN031748 | OMIM | 1 | | 511 | 1149 | 602860 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BUB1B CL E G H | 701 | 257300 | Mosaic variegated aneuploidy syndrome 1 | 257300 | CN031748 | OMIM | 1 | | 617 | 1149 | 602860 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | BUB3 CL E G H | 9184 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 51 | 1151 | 603719 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | C2CD3 CL E G H | 26005 | 615948 | Orofaciodigital syndrome xiv | 615948 | C4014780 | OMIM | 1 | | 238 | 24564 | 615944 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | C2CD3 CL E G H | 26005 | 615948 | Orofaciodigital syndrome xiv | 615948 | C4014780 | OMIM | 1 | | 355 | 24564 | 615944 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CASK CL E G H | 8573 | 163937 | | | | ORPHA | 1 | | 583 | 1497 | 300172 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CASK CL E G H | 8573 | 163937 | | | | ORPHA | 1 | | 633 | 1497 | 300172 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CC2D2A CL E G H | 57545 | 564 | | | | ORPHA | 1 | | 881 | 29253 | 612013 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CC2D2A CL E G H | 57545 | 564 | | | | ORPHA | 1 | | 1064 | 29253 | 612013 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CCDC47 CL E G H | 57003 | 618268 | 618268 | 618268 | | OMIM | 1 | | 23 | 24856 | 0 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CD96 CL E G H | 10225 | 211750 | C syndrome | 211750 | C0796095 | OMIM | 1 | | 56 | 16892 | 606037 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CD96 CL E G H | 10225 | 211750 | C syndrome | 211750 | C0796095 | OMIM | 1 | | 62 | 16892 | 606037 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CD96 CL E G H | 10225 | 1308 | Chorioretinopathy dominant form microcephaly | | | ORPHA | 1 | | 56 | 16892 | 606037 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CD96 CL E G H | 10225 | 1308 | Chorioretinopathy dominant form microcephaly | | | ORPHA | 1 | | 62 | 16892 | 606037 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDC45 CL E G H | 8318 | 2554 | | | | ORPHA | 1 | | 500 | 1739 | 603465 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDC45 CL E G H | 8318 | 2554 | | | | ORPHA | 1 | | 542 | 1739 | 603465 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDC6 CL E G H | 990 | 2554 | | | | ORPHA | 1 | | 71 | 1744 | 602627 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDC6 CL E G H | 990 | 2554 | | | | ORPHA | 1 | | 83 | 1744 | 602627 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDC6 CL E G H | 990 | 613805 | Meier-Gorlin syndrome 5 | 613805 | C3151126 | OMIM | 1 | | 71 | 1744 | 602627 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDC6 CL E G H | 990 | 613805 | Meier-Gorlin syndrome 5 | 613805 | C3151126 | OMIM | 1 | | 83 | 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 | | 56 | 14628 | 609937 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDCA7 CL E G H | 83879 | 616910 | Immunodeficiency-centromeric instability-facial anomalies syndrome 3 | 616910 | C4310799 | OMIM | 1 | | 103 | 14628 | 609937 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDH11 CL E G H | 1009 | 1299 | | | | ORPHA | 1 | | 52 | 1750 | 600023 |
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 | | 77 | 1774 | 123831 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDK5 CL E G H | 1020 | 616342 | Lissencephaly 7 with cerebellar hypoplasia | 616342 | C4225359 | OMIM | 1 | | 83 | 1774 | 123831 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDK5RAP2 CL E G H | 55755 | 2512 | | | | ORPHA | 1 | | 454 | 18672 | 608201 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDK5RAP2 CL E G H | 55755 | 2512 | | | | ORPHA | 1 | | 463 | 18672 | 608201 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDK5RAP2 CL E G H | 55755 | 604804 | Primary autosomal recessive microcephaly 3 | 604804 | C1858108 | OMIM | 1 | | 454 | 18672 | 608201 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDK5RAP2 CL E G H | 55755 | 604804 | Primary autosomal recessive microcephaly 3 | 604804 | C1858108 | OMIM | 1 | | 463 | 18672 | 608201 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDK6 CL E G H | 1021 | 2512 | | | | ORPHA | 1 | | 45 | 1777 | 603368 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDK6 CL E G H | 1021 | 616080 | Primary autosomal recessive microcephaly 12 | 616080 | C4015156 | OMIM | 1 | | 45 | 1777 | 603368 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDKL5 CL E G H | 6792 | 3095 | | | | ORPHA | 1 | | 1270 | 11411 | 300203 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDKL5 CL E G H | 6792 | 3095 | | | | ORPHA | 1 | | 1399 | 11411 | 300203 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDON CL E G H | 50937 | 280200 | | | | ORPHA | 1 | | 489 | 17104 | 608707 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDON CL E G H | 50937 | 280200 | | | | ORPHA | 1 | | 518 | 17104 | 608707 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDON CL E G H | 50937 | 614226 | Holoprosencephaly 11 | 614226 | C3280215 | OMIM | 1 | | 489 | 17104 | 608707 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDON CL E G H | 50937 | 614226 | Holoprosencephaly 11 | 614226 | C3280215 | OMIM | 1 | | 518 | 17104 | 608707 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDT1 CL E G H | 81620 | 2554 | | | | ORPHA | 1 | | 216 | 24576 | 605525 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDT1 CL E G H | 81620 | 2554 | | | | ORPHA | 1 | | 293 | 24576 | 605525 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDT1 CL E G H | 81620 | 613804 | Meier-Gorlin syndrome 4 | 613804 | C3151120 | OMIM | 1 | | 216 | 24576 | 605525 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CDT1 CL E G H | 81620 | 613804 | Meier-Gorlin syndrome 4 | 613804 | C3151120 | OMIM | 1 | | 293 | 24576 | 605525 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CENPE CL E G H | 1062 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 252 | 1856 | 117143 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CENPE CL E G H | 1062 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 262 | 1856 | 117143 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CENPE CL E G H | 1062 | 616051 | Primary autosomal recessive microcephaly 13 | 616051 | C4015080 | OMIM | 1 | | 252 | 1856 | 117143 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CENPE CL E G H | 1062 | 616051 | Primary autosomal recessive microcephaly 13 | 616051 | C4015080 | OMIM | 1 | | 262 | 1856 | 117143 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CENPJ CL E G H | 55835 | 2512 | | | | ORPHA | 1 | | 347 | 17272 | 609279 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CENPJ CL E G H | 55835 | 2512 | | | | ORPHA | 1 | | 399 | 17272 | 609279 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CENPJ CL E G H | 55835 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 347 | 17272 | 609279 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CENPJ CL E G H | 55835 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 399 | 17272 | 609279 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CENPJ CL E G H | 55835 | 608393 | Primary autosomal recessive microcephaly 6 | 608393 | C1842109 | OMIM | 1 | | 347 | 17272 | 609279 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CENPJ CL E G H | 55835 | 608393 | Primary autosomal recessive microcephaly 6 | 608393 | C1842109 | OMIM | 1 | | 399 | 17272 | 609279 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CENPJ CL E G H | 55835 | 613676 | Seckel syndrome 4 | 613676 | C3888212 | OMIM | 1 | | 347 | 17272 | 609279 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CENPJ CL E G H | 55835 | 613676 | Seckel syndrome 4 | 613676 | C3888212 | OMIM | 1 | | 399 | 17272 | 609279 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP135 CL E G H | 9662 | 2512 | | | | ORPHA | 1 | | 176 | 29086 | 611423 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP135 CL E G H | 9662 | 2512 | | | | ORPHA | 1 | | 245 | 29086 | 611423 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP135 CL E G H | 9662 | 614673 | Primary autosomal recessive microcephaly 8 | 614673 | C3553414 | OMIM | 1 | | 176 | 29086 | 611423 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP135 CL E G H | 9662 | 614673 | Primary autosomal recessive microcephaly 8 | 614673 | C3553414 | OMIM | 1 | | 245 | 29086 | 611423 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP152 CL E G H | 22995 | 2512 | | | | ORPHA | 1 | | 334 | 29298 | 613529 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP152 CL E G H | 22995 | 2512 | | | | ORPHA | 1 | | 404 | 29298 | 613529 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP152 CL E G H | 22995 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 334 | 29298 | 613529 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP152 CL E G H | 22995 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 404 | 29298 | 613529 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP152 CL E G H | 22995 | 614852 | Primary autosomal recessive microcephaly 9 | 614852 | C3553886 | OMIM | 1 | | 334 | 29298 | 613529 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP152 CL E G H | 22995 | 614852 | Primary autosomal recessive microcephaly 9 | 614852 | C3553886 | OMIM | 1 | | 404 | 29298 | 613529 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP152 CL E G H | 22995 | 613823 | Seckel syndrome 5 | 613823 | C3151187 | OMIM | 1 | | 334 | 29298 | 613529 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP152 CL E G H | 22995 | 613823 | Seckel syndrome 5 | 613823 | C3151187 | OMIM | 1 | | 404 | 29298 | 613529 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP290 CL E G H | 80184 | 564 | | | | ORPHA | 1 | | 1535 | 29021 | 610142 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP290 CL E G H | 80184 | 564 | | | | ORPHA | 1 | | 1902 | 29021 | 610142 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP55 CL E G H | 55165 | 564 | | | | ORPHA | 1 | | 40 | 1161 | 610000 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP55 CL E G H | 55165 | 564 | | | | ORPHA | 1 | | 44 | 1161 | 610000 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP57 CL E G H | 9702 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 212 | 30794 | 607951 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP57 CL E G H | 9702 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 275 | 30794 | 607951 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP57 CL E G H | 9702 | 614114 | Mosaic variegated aneuploidy syndrome 2 | 614114 | C3279843 | OMIM | 1 | | 212 | 30794 | 607951 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP57 CL E G H | 9702 | 614114 | Mosaic variegated aneuploidy syndrome 2 | 614114 | C3279843 | OMIM | 1 | | 275 | 30794 | 607951 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP63 CL E G H | 80254 | 2512 | | | | ORPHA | 1 | | 167 | 25815 | 614724 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP63 CL E G H | 80254 | 2512 | | | | ORPHA | 1 | | 200 | 25815 | 614724 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP63 CL E G H | 80254 | 614728 | Seckel syndrome 6 | 614728 | C3553582 | OMIM | 1 | | 167 | 25815 | 614724 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CEP63 CL E G H | 80254 | 614728 | Seckel syndrome 6 | 614728 | C3553582 | OMIM | 1 | | 200 | 25815 | 614724 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 1752 | 20626 | 608892 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 1980 | 20626 | 608892 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CHKB CL E G H | 1120 | 602541 | Muscular dystrophy, congenital, megaconial type | 602541 | C1865233 | OMIM | 1 | | 335 | 1938 | 612395 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CHKB CL E G H | 1120 | 602541 | Muscular dystrophy, congenital, megaconial type | 602541 | C1865233 | OMIM | 1 | | 382 | 1938 | 612395 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CHRNG CL E G H | 1146 | 2990 | | | | ORPHA | 1 | | 206 | 1967 | 100730 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CHRNG CL E G H | 1146 | 2990 | | | | ORPHA | 1 | | 212 | 1967 | 100730 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CHUK CL E G H | 1147 | 613630 | Cocoon syndrome | 613630 | C3150891 | OMIM | 1 | | 65 | 1974 | 600664 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CHUK CL E G H | 1147 | 613630 | Cocoon syndrome | 613630 | C3150891 | OMIM | 1 | | 91 | 1974 | 600664 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CIT CL E G H | 11113 | 2512 | | | | ORPHA | 1 | | 319 | 1985 | 605629 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CIT CL E G H | 11113 | 2512 | | | | ORPHA | 1 | | 329 | 1985 | 605629 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CIT CL E G H | 11113 | 617090 | Microcephaly 17, primary, autosomal recessive | 617090 | C4310723 | OMIM | 1 | | 319 | 1985 | 605629 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CIT CL E G H | 11113 | 617090 | Microcephaly 17, primary, autosomal recessive | 617090 | C4310723 | OMIM | 1 | | 329 | 1985 | 605629 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CKAP2L CL E G H | 150468 | 272440 | Filippi syndrome | 272440 | C0795940 | OMIM | 1 | | 78 | 26877 | 616174 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CKAP2L CL E G H | 150468 | 272440 | Filippi syndrome | 272440 | C0795940 | OMIM | 1 | | 94 | 26877 | 616174 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CKAP2L CL E G H | 150468 | 3255 | Limb scalp and skull defects | | | ORPHA | 1 | | 78 | 26877 | 616174 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CKAP2L CL E G H | 150468 | 3255 | Limb scalp and skull defects | | | ORPHA | 1 | | 94 | 26877 | 616174 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CLIP2 CL E G H | 7461 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 176 | 2586 | 603432 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CLIP2 CL E G H | 7461 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 177 | 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 | | 337 | 30664 | 616254 |
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 | | 404 | 30664 | 616254 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CNNM2 CL E G H | 54805 | 616418 | Hypomagnesemia, seizures, and mental retardation | 616418 | C4225333 | OMIM | 1 | | 176 | 103 | 607803 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CNNM2 CL E G H | 54805 | 616418 | Hypomagnesemia, seizures, and mental retardation | 616418 | C4225333 | OMIM | 1 | | 191 | 103 | 607803 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CNTNAP1 CL E G H | 8506 | 618186 | Congenital hypomyelinating neuropathy 3 | 618186 | | OMIM | 1 | | 158 | 8011 | 602346 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CNTNAP1 CL E G H | 8506 | 618186 | Congenital hypomyelinating neuropathy 3 | 618186 | | OMIM | 1 | | 216 | 8011 | 602346 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | COG4 CL E G H | 25839 | 85172 | | | | ORPHA | 1 | | 221 | 18620 | 606976 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | COG4 CL E G H | 25839 | 85172 | | | | ORPHA | 1 | | 247 | 18620 | 606976 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 221 | 18620 | 606976 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 247 | 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 | | 281 | 18621 | 606977 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | COG6 CL E G H | 57511 | 614576 | Congenital disorder of glycosylation type 2L | 614576 | C3553230 | OMIM | 1 | | 297 | 18621 | 606977 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | COPB2 CL E G H | 9276 | 2512 | | | | ORPHA | 1 | | 51 | 2232 | 606990 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | COPB2 CL E G H | 9276 | 2512 | | | | ORPHA | 1 | | 63 | 2232 | 606990 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | COPB2 CL E G H | 9276 | 617800 | MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE | 617800 | C4540488 | OMIM | 1 | | 51 | 2232 | 606990 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | COPB2 CL E G H | 9276 | 617800 | MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE | 617800 | C4540488 | OMIM | 1 | | 63 | 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 | | 216 | 2263 | 603646 |
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 | | 233 | 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 | | 171 | 2291 | 300885 |
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 | | 175 | 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 | | 171 | 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 | | 175 | 2291 | 300885 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CPLX1 CL E G H | 10815 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 151 | 2309 | 605032 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CPLX1 CL E G H | 10815 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 163 | 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 | | 505 | 2330 | 600650 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CPT2 CL E G H | 1376 | 608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | 608836 | C1833518 | OMIM | 1 | | 618 | 2330 | 600650 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CRKL CL E G H | 1399 | 261330 | | | | ORPHA | 1 | | 398 | 2363 | 602007 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CRKL CL E G H | 1399 | 261330 | | | | ORPHA | 1 | | 406 | 2363 | 602007 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CSNK2A1 CL E G H | 1457 | 617062 | Okur-chung neurodevelopmental syndrome | 617062 | C4310739 | OMIM | 1 | | 177 | 2457 | 115440 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CSNK2A1 CL E G H | 1457 | 617062 | Okur-chung neurodevelopmental syndrome | 617062 | C4310739 | OMIM | 1 | | 182 | 2457 | 115440 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CSPP1 CL E G H | 79848 | 564 | | | | ORPHA | 1 | | 476 | 26193 | 611654 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CSPP1 CL E G H | 79848 | 564 | | | | ORPHA | 1 | | 687 | 26193 | 611654 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CTBP1 CL E G H | 1487 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 174 | 2494 | 602618 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CTBP1 CL E G H | 1487 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 187 | 2494 | 602618 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CTCF CL E G H | 10664 | 615502 | Mental retardation, autosomal dominant 21 | 615502 | C3809686 | OMIM | 1 | | 190 | 13723 | 604167 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CTCF CL E G H | 10664 | 615502 | Mental retardation, autosomal dominant 21 | 615502 | C3809686 | OMIM | 1 | | 201 | 13723 | 604167 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CTNNB1 CL E G H | 1499 | 615075 | Mental retardation, autosomal dominant 19 | 615075 | C3554449 | OMIM | 1 | | 269 | 2514 | 116806 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CTNNB1 CL E G H | 1499 | 615075 | Mental retardation, autosomal dominant 19 | 615075 | C3554449 | OMIM | 1 | | 364 | 2514 | 116806 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CTNND2 CL E G H | 1501 | 281 | Ramer Ladda syndrome | | | ORPHA | 1 | | 304 | 2516 | 604275 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CTNND2 CL E G H | 1501 | 281 | Ramer Ladda syndrome | | | ORPHA | 1 | | 308 | 2516 | 604275 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 413 | 2529 | 116840 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 465 | 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 | | 128 | 28005 | 617057 |
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 | | 142 | 28005 | 617057 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CYB5R3 CL E G H | 1727 | 250800 | Deficiency of cytochrome-b5 reductase | 250800 | C0268193 | OMIM | 1 | | 134 | 2873 | 613213 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | CYB5R3 CL E G H | 1727 | 250800 | Deficiency of cytochrome-b5 reductase | 250800 | C0268193 | OMIM | 1 | | 144 | 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 | | 107 | 29812 | 610534 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DCPS CL E G H | 28960 | 616459 | AL-RAQAD SYNDROME | 616459 | C4085595 | OMIM | 1 | | 110 | 29812 | 610534 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DDX11 CL E G H | 1663 | 613398 | Warsaw breakage syndrome | 613398 | C3150658 | OMIM | 1 | | 123 | 2736 | 601150 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DDX11 CL E G H | 1663 | 613398 | Warsaw breakage syndrome | 613398 | C3150658 | OMIM | 1 | | 126 | 2736 | 601150 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DDX3X CL E G H | 1654 | 457260 | | | | ORPHA | 1 | | 461 | 2745 | 300160 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DDX3X CL E G H | 1654 | 457260 | | | | ORPHA | 1 | | 496 | 2745 | 300160 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DGCR2 CL E G H | 9993 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 411 | 2845 | 600594 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DGCR2 CL E G H | 9993 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 417 | 2845 | 600594 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DGCR6 CL E G H | 8214 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 338 | 2846 | 601279 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DGCR6 CL E G H | 8214 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 341 | 2846 | 601279 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DGCR8 CL E G H | 54487 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 402 | 2847 | 609030 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DGCR8 CL E G H | 54487 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 405 | 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 | | 140 | 2858 | 601465 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 156 | 2858 | 601465 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DHCR24 CL E G H | 1718 | 35107 | | | | ORPHA | 1 | | 180 | 2859 | 606418 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DHCR24 CL E G H | 1718 | 35107 | | | | ORPHA | 1 | | 198 | 2859 | 606418 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DHCR7 CL E G H | 1717 | 818 | | | | ORPHA | 1 | | 511 | 2860 | 602858 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DHCR7 CL E G H | 1717 | 818 | | | | ORPHA | 1 | | 546 | 2860 | 602858 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 511 | 2860 | 602858 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 546 | 2860 | 602858 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DHTKD1 CL E G H | 55526 | 204750 | 2-aminoadipic 2-oxoadipic aciduria | 204750 | C1859817 | OMIM | 1 | | 218 | 23537 | 614984 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DHTKD1 CL E G H | 55526 | 204750 | 2-aminoadipic 2-oxoadipic aciduria | 204750 | C1859817 | OMIM | 1 | | 337 | 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 | | 554 | 2876 | 602121 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DIAPH1 CL E G H | 1729 | 616632 | Seizures, cortical blindness, and microcephaly syndrome | 616632 | C4225261 | OMIM | 1 | | 758 | 2876 | 602121 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DISP1 CL E G H | 84976 | 280200 | | | | ORPHA | 1 | | 145 | 19711 | 607502 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DISP1 CL E G H | 84976 | 280200 | | | | ORPHA | 1 | | 178 | 19711 | 607502 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DKC1 CL E G H | 1736 | 3322 | | | | ORPHA | 1 | | 396 | 2890 | 300126 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DKC1 CL E G H | 1736 | 3322 | | | | ORPHA | 1 | | 426 | 2890 | 300126 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 396 | 2890 | 300126 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 426 | 2890 | 300126 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DLAT CL E G H | 1737 | 245348 | Pyruvate dehydrogenase E2 deficiency | 245348 | C1855565 | OMIM | 1 | | 168 | 2896 | 608770 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DLAT CL E G H | 1737 | 245348 | Pyruvate dehydrogenase E2 deficiency | 245348 | C1855565 | OMIM | 1 | | 199 | 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 | | 329 | 2898 | 238331 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 355 | 2898 | 238331 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DLL1 CL E G H | 28514 | 280200 | | | | ORPHA | 1 | | 177 | 2908 | 606582 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DLL1 CL E G H | 28514 | 280200 | | | | ORPHA | 1 | | 206 | 2908 | 606582 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DNA2 CL E G H | 1763 | 615807 | Seckel syndrome 8 | 615807 | C3891452 | OMIM | 1 | | 223 | 2939 | 601810 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DNA2 CL E G H | 1763 | 615807 | Seckel syndrome 8 | 615807 | C3891452 | OMIM | 1 | | 290 | 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 | | 263 | 2973 | 603850 |
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 | | 332 | 2973 | 603850 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DOCK6 CL E G H | 57572 | 614219 | Adams-Oliver syndrome 2 | 614219 | C3280182 | OMIM | 1 | | 361 | 19189 | 614194 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DOCK6 CL E G H | 57572 | 614219 | Adams-Oliver syndrome 2 | 614219 | C3280182 | OMIM | 1 | | 472 | 19189 | 614194 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DONSON CL E G H | 29980 | 251230 | Microcephaly-micromelia syndrome | 251230 | C1855079 | OMIM | 1 | | 100 | 2993 | 611428 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DONSON CL E G H | 29980 | 251230 | Microcephaly-micromelia syndrome | 251230 | C1855079 | OMIM | 1 | | 131 | 2993 | 611428 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DPAGT1 CL E G H | 1798 | 86309 | | | | ORPHA | 1 | | 199 | 2995 | 191350 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DPAGT1 CL E G H | 1798 | 86309 | | | | ORPHA | 1 | | 233 | 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 | | 199 | 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 | | 233 | 2995 | 191350 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DPF2 CL E G H | 5977 | 1465 | | | | ORPHA | 1 | | 37 | 9964 | 601671 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DPF2 CL E G H | 5977 | 1465 | | | | ORPHA | 1 | | 45 | 9964 | 601671 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DPM1 CL E G H | 8813 | 79322 | | | | ORPHA | 1 | | 156 | 3005 | 603503 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DPM1 CL E G H | 8813 | 79322 | | | | ORPHA | 1 | | 188 | 3005 | 603503 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DPP6 CL E G H | 1804 | 2514 | | | | ORPHA | 1 | | 222 | 3010 | 126141 |
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 | | 222 | 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 | | 338 | 3012 | 612779 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DPYD CL E G H | 1806 | 274270 | Dihydropyrimidine dehydrogenase deficiency | 274270 | C2720286 | OMIM | 1 | | 340 | 3012 | 612779 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DSTYK CL E G H | 25778 | 270750 | Spastic paraplegia 23 | 270750 | C0796019 | OMIM | 1 | | 75 | 29043 | 612666 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DSTYK CL E G H | 25778 | 270750 | Spastic paraplegia 23 | 270750 | C0796019 | OMIM | 1 | | 86 | 29043 | 612666 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DYM CL E G H | 54808 | 239 | | | | ORPHA | 1 | | 191 | 21317 | 607461 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DYM CL E G H | 54808 | 239 | | | | ORPHA | 1 | | 229 | 21317 | 607461 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DYM CL E G H | 54808 | 223800 | Dyggve-Melchior-Clausen syndrome | 223800 | C0265286 | OMIM | 1 | | 191 | 21317 | 607461 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DYM CL E G H | 54808 | 223800 | Dyggve-Melchior-Clausen syndrome | 223800 | C0265286 | OMIM | 1 | | 229 | 21317 | 607461 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DYM CL E G H | 54808 | 607326 | Smith-McCort dysplasia 1 | 607326 | C1846431 | OMIM | 1 | | 191 | 21317 | 607461 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | DYM CL E G H | 54808 | 607326 | Smith-McCort dysplasia 1 | 607326 | C1846431 | OMIM | 1 | | 229 | 21317 | 607461 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EDC3 CL E G H | 80153 | 616460 | Mental retardation, autosomal recessive 50 | 616460 | C4225319 | OMIM | 1 | | 46 | 26114 | 609842 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EDC3 CL E G H | 80153 | 616460 | Mental retardation, autosomal recessive 50 | 616460 | C4225319 | OMIM | 1 | | 47 | 26114 | 609842 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EFNB1 CL E G H | 1947 | 1520 | | | | ORPHA | 1 | | 201 | 3226 | 300035 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EFNB1 CL E G H | 1947 | 1520 | | | | ORPHA | 1 | | 210 | 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 | | 282 | 30858 | 603892 |
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 | | 310 | 30858 | 603892 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EHMT1 CL E G H | 79813 | 96147 | | | | ORPHA | 1 | | 1164 | 24650 | 607001 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EHMT1 CL E G H | 79813 | 96147 | | | | ORPHA | 1 | | 1301 | 24650 | 607001 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EIF2AK3 CL E G H | 9451 | 226980 | Wolcott-Rallison dysplasia | 226980 | C0432217 | OMIM | 1 | | 178 | 3255 | 604032 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EIF2AK3 CL E G H | 9451 | 226980 | Wolcott-Rallison dysplasia | 226980 | C0432217 | OMIM | 1 | | 296 | 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 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 1 | | 196 | 3267 | 300161 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ELN CL E G H | 2006 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 657 | 3327 | 130160 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ELN CL E G H | 2006 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 704 | 3327 | 130160 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EMG1 CL E G H | 10436 | 1270 | | | | ORPHA | 1 | | 63 | 16912 | 611531 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EMG1 CL E G H | 10436 | 1270 | | | | ORPHA | 1 | | 69 | 16912 | 611531 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EMG1 CL E G H | 10436 | 211180 | Bowen-Conradi syndrome | 211180 | C1859405 | OMIM | 1 | | 63 | 16912 | 611531 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EMG1 CL E G H | 10436 | 211180 | Bowen-Conradi syndrome | 211180 | C1859405 | OMIM | 1 | | 69 | 16912 | 611531 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ENTPD1 CL E G H | 953 | 401810 | | | | ORPHA | 1 | | 87 | 3363 | 601752 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ENTPD1 CL E G H | 953 | 401810 | | | | ORPHA | 1 | | 115 | 3363 | 601752 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EP300 CL E G H | 2033 | 613684 | Rubinstein-Taybi syndrome 2 | 613684 | C3150941 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EP300 CL E G H | 2033 | 613684 | Rubinstein-Taybi syndrome 2 | 613684 | C3150941 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EPG5 CL E G H | 57724 | 242840 | Vici syndrome | 242840 | C1855772 | OMIM | 1 | | 801 | 29331 | 615068 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EPG5 CL E G H | 57724 | 242840 | Vici syndrome | 242840 | C1855772 | OMIM | 1 | | 1033 | 29331 | 615068 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 106 | 3433 | 126380 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 110 | 3433 | 126380 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC1 CL E G H | 2067 | 610758 | Cerebrooculofacioskeletal syndrome 4 | 610758 | C1853100 | OMIM | 1 | | 106 | 3433 | 126380 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC1 CL E G H | 2067 | 610758 | Cerebrooculofacioskeletal syndrome 4 | 610758 | C1853100 | OMIM | 1 | | 110 | 3433 | 126380 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC2 CL E G H | 2068 | 610756 | Cerebrooculofacioskeletal syndrome 2 | 610756 | C1853102 | OMIM | 1 | | 360 | 3434 | 126340 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC2 CL E G H | 2068 | 610756 | Cerebrooculofacioskeletal syndrome 2 | 610756 | C1853102 | OMIM | 1 | | 479 | 3434 | 126340 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 360 | 3434 | 126340 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 479 | 3434 | 126340 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 360 | 3434 | 126340 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 479 | 3434 | 126340 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 186 | 3435 | 133510 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 283 | 3435 | 133510 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC3 CL E G H | 2071 | 610651 | Xeroderma pigmentosum, complementation group b | 610651 | C1970808 | OMIM | 1 | | 186 | 3435 | 133510 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC3 CL E G H | 2071 | 610651 | Xeroderma pigmentosum, complementation group b | 610651 | C1970808 | OMIM | 1 | | 283 | 3435 | 133510 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC4 CL E G H | 2072 | 84 | | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC4 CL E G H | 2072 | 84 | | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC4 CL E G H | 2072 | 615272 | Fanconi anemia, complementation group Q | 615272 | C3808988 | OMIM | 1 | | 469 | 3436 | 133520 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC4 CL E G H | 2072 | 615272 | Fanconi anemia, complementation group Q | 615272 | C3808988 | OMIM | 1 | | 538 | 3436 | 133520 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC4 CL E G H | 2072 | 610965 | XFE progeroid syndrome | 610965 | C1970416 | OMIM | 1 | | 469 | 3436 | 133520 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC4 CL E G H | 2072 | 610965 | XFE progeroid syndrome | 610965 | C1970416 | OMIM | 1 | | 538 | 3436 | 133520 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC5 CL E G H | 2073 | 616570 | Cerebrooculofacioskeletal syndrome 3 | 616570 | C1851443 | OMIM | 1 | | 361 | 3437 | 133530 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC5 CL E G H | 2073 | 616570 | Cerebrooculofacioskeletal syndrome 3 | 616570 | C1851443 | OMIM | 1 | | 374 | 3437 | 133530 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 825 | 3438 | 609413 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 946 | 3438 | 609413 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC6 CL E G H | 2074 | 214150 | Cerebro-oculo-facio-skeletal syndrome | 214150 | C0220722 | OMIM | 1 | | 825 | 3438 | 609413 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC6 CL E G H | 2074 | 214150 | Cerebro-oculo-facio-skeletal syndrome | 214150 | C0220722 | OMIM | 1 | | 946 | 3438 | 609413 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC6 CL E G H | 2074 | 133540 | Cockayne syndrome B | 133540 | C0751038 | OMIM | 1 | | 825 | 3438 | 609413 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC6 CL E G H | 2074 | 133540 | Cockayne syndrome B | 133540 | C0751038 | OMIM | 1 | | 946 | 3438 | 609413 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 825 | 3438 | 609413 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 946 | 3438 | 609413 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC6L2 CL E G H | 375748 | 615715 | Bone marrow failure syndrome 2 | 615715 | C3810350 | OMIM | 1 | | 131 | 26922 | 615667 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC6L2 CL E G H | 375748 | 615715 | Bone marrow failure syndrome 2 | 615715 | C3810350 | OMIM | 1 | | 309 | 26922 | 615667 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | | 310 | 3439 | 609412 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | | 343 | 3439 | 609412 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ESCO2 CL E G H | 157570 | 3103 | | | | ORPHA | 1 | | 342 | 27230 | 609353 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ESCO2 CL E G H | 157570 | 3103 | | | | ORPHA | 1 | | 376 | 27230 | 609353 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ESCO2 CL E G H | 157570 | 268300 | Roberts-SC phocomelia syndrome | 268300 | C0392475 | OMIM | 1 | | 342 | 27230 | 609353 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ESCO2 CL E G H | 157570 | 268300 | Roberts-SC phocomelia syndrome | 268300 | C0392475 | OMIM | 1 | | 376 | 27230 | 609353 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ESCO2 CL E G H | 157570 | 269000 | Roberts-SC phocomelia syndrome | 269000 | C0392475 | OMIM | 1 | | 342 | 27230 | 609353 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ESCO2 CL E G H | 157570 | 269000 | Roberts-SC phocomelia syndrome | 269000 | C0392475 | OMIM | 1 | | 376 | 27230 | 609353 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ESS2 CL E G H | 8220 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 402 | 16817 | 601755 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ESS2 CL E G H | 8220 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 407 | 16817 | 601755 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EXOSC9 CL E G H | 5393 | 618065 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1D | 618065 | CN252648 | OMIM | 1 | | 48 | 9137 | 606180 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | EXOSC9 CL E G H | 5393 | 618065 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1D | 618065 | CN252648 | OMIM | 1 | | 108 | 9137 | 606180 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FAM20C CL E G H | 56975 | 1832 | Diabetes hypogonadism deafness mental retardation | | | ORPHA | 1 | | 245 | 22140 | 611061 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FAM20C CL E G H | 56975 | 1832 | Diabetes hypogonadism deafness mental retardation | | | ORPHA | 1 | | 291 | 22140 | 611061 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FAM20C CL E G H | 56975 | 259775 | Raine syndrome | 259775 | C1850106 | OMIM | 1 | | 245 | 22140 | 611061 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FAM20C CL E G H | 56975 | 259775 | Raine syndrome | 259775 | C1850106 | OMIM | 1 | | 291 | 22140 | 611061 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCA CL E G H | 2175 | 84 | | | | ORPHA | 1 | | 2658 | 3582 | 607139 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCA CL E G H | 2175 | 84 | | | | ORPHA | 1 | | 3146 | 3582 | 607139 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCA CL E G H | 2175 | 227650 | Fanconi anemia, complementation group A | 227650 | C3469521 | OMIM | 1 | | 2658 | 3582 | 607139 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCA CL E G H | 2175 | 227650 | Fanconi anemia, complementation group A | 227650 | C3469521 | OMIM | 1 | | 3146 | 3582 | 607139 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCB CL E G H | 2187 | 84 | | | | ORPHA | 1 | | 410 | 3583 | 300515 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCB CL E G H | 2187 | 84 | | | | ORPHA | 1 | | 481 | 3583 | 300515 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCC CL E G H | 2176 | 84 | | | | ORPHA | 1 | | 1079 | 3584 | 613899 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCC CL E G H | 2176 | 84 | | | | ORPHA | 1 | | 1175 | 3584 | 613899 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCC CL E G H | 2176 | 227645 | Fanconi anemia, complementation group C | 227645 | C3468041 | OMIM | 1 | | 1079 | 3584 | 613899 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCC CL E G H | 2176 | 227645 | Fanconi anemia, complementation group C | 227645 | C3468041 | OMIM | 1 | | 1175 | 3584 | 613899 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCD2 CL E G H | 2177 | 84 | | | | ORPHA | 1 | | 729 | 3585 | 613984 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCD2 CL E G H | 2177 | 84 | | | | ORPHA | 1 | | 864 | 3585 | 613984 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCD2 CL E G H | 2177 | 227646 | Fanconi anemia, complementation group D2 | 227646 | C3160738 | OMIM | 1 | | 729 | 3585 | 613984 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCD2 CL E G H | 2177 | 227646 | Fanconi anemia, complementation group D2 | 227646 | C3160738 | OMIM | 1 | | 864 | 3585 | 613984 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCE CL E G H | 2178 | 84 | | | | ORPHA | 1 | | 281 | 3586 | 613976 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCE CL E G H | 2178 | 84 | | | | ORPHA | 1 | | 360 | 3586 | 613976 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCE CL E G H | 2178 | 600901 | Fanconi anemia, complementation group E | 600901 | C3160739 | OMIM | 1 | | 281 | 3586 | 613976 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCE CL E G H | 2178 | 600901 | Fanconi anemia, complementation group E | 600901 | C3160739 | OMIM | 1 | | 360 | 3586 | 613976 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCF CL E G H | 2188 | 84 | | | | ORPHA | 1 | | 245 | 3587 | 613897 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCF CL E G H | 2188 | 84 | | | | ORPHA | 1 | | 312 | 3587 | 613897 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCG CL E G H | 2189 | 84 | | | | ORPHA | 1 | | 473 | 3588 | 602956 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCG CL E G H | 2189 | 84 | | | | ORPHA | 1 | | 535 | 3588 | 602956 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCI CL E G H | 55215 | 84 | | | | ORPHA | 1 | | 791 | 25568 | 611360 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCI CL E G H | 55215 | 84 | | | | ORPHA | 1 | | 1040 | 25568 | 611360 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCL CL E G H | 55120 | 84 | | | | ORPHA | 1 | | 261 | 20748 | 608111 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCL CL E G H | 55120 | 84 | | | | ORPHA | 1 | | 348 | 20748 | 608111 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCM CL E G H | 57697 | 84 | | | | ORPHA | 1 | | 1179 | 23168 | 609644 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FANCM CL E G H | 57697 | 84 | | | | ORPHA | 1 | | 1450 | 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 | | 66 | 26222 | 616107 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FAR1 CL E G H | 84188 | 616154 | Peroxisomal fatty acyl-coa reductase 1 disorder | 616154 | C4015344 | OMIM | 1 | | 126 | 26222 | 616107 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 361 | 21062 | 611592 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 429 | 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 | | 200 | 3602 | 604580 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FBLN5 CL E G H | 10516 | 219100 | Autosomal recessive cutis laxa type IA | 219100 | CN033664 | OMIM | 1 | | 258 | 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 | | 150 | 13590 | 607871 |
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 | | 299 | 13590 | 607871 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FGF8 CL E G H | 2253 | 280200 | | | | ORPHA | 1 | | 66 | 3686 | 600483 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FGF8 CL E G H | 2253 | 280200 | | | | ORPHA | 1 | | 69 | 3686 | 600483 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FGFR1 CL E G H | 2260 | 280200 | | | | ORPHA | 1 | | 530 | 3688 | 136350 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FGFR1 CL E G H | 2260 | 280200 | | | | ORPHA | 1 | | 597 | 3688 | 136350 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FGFR1 CL E G H | 2260 | 615465 | Hartsfield syndrome | 615465 | C1845146 | OMIM | 1 | | 530 | 3688 | 136350 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FGFR1 CL E G H | 2260 | 615465 | Hartsfield syndrome | 615465 | C1845146 | OMIM | 1 | | 597 | 3688 | 136350 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FGFR1 CL E G H | 2260 | 190440 | Trigonocephaly 1 | 190440 | C0432122 | OMIM | 1 | | 530 | 3688 | 136350 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FGFR1 CL E G H | 2260 | 190440 | Trigonocephaly 1 | 190440 | C0432122 | OMIM | 1 | | 597 | 3688 | 136350 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FGFR3 CL E G H | 2261 | 85165 | | | | ORPHA | 1 | | 541 | 3690 | 134934 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FGFR3 CL E G H | 2261 | 85165 | | | | ORPHA | 1 | | 542 | 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 | | 541 | 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 | | 542 | 3690 | 134934 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FGFRL1 CL E G H | 53834 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 214 | 3693 | 605830 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FGFRL1 CL E G H | 53834 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 267 | 3693 | 605830 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FH CL E G H | 2271 | 606812 | Fumarase deficiency | 606812 | C0342770 | OMIM | 1 | | 1136 | 3700 | 136850 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FH CL E G H | 2271 | 606812 | Fumarase deficiency | 606812 | C0342770 | OMIM | 1 | | 1292 | 3700 | 136850 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FIG4 CL E G H | 9896 | 216340 | Yunis Varon syndrome | 216340 | C1857663 | OMIM | 1 | | 558 | 16873 | 609390 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FIG4 CL E G H | 9896 | 216340 | Yunis Varon syndrome | 216340 | C1857663 | OMIM | 1 | | 649 | 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 | | 572 | 17997 | 606596 |
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 | | 671 | 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 | | 572 | 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 | | 671 | 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 | | 599 | 3622 | 607440 |
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 | | 679 | 3622 | 607440 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FLCN CL E G H | 201163 | 610883 | Chromosome 17, trisomy 17p11 2 | 610883 | C2931246 | OMIM | 1 | | 1274 | 27310 | 607273 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FLCN CL E G H | 201163 | 610883 | Chromosome 17, trisomy 17p11 2 | 610883 | C2931246 | OMIM | 1 | | 1439 | 27310 | 607273 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FOXG1 CL E G H | 2290 | 3095 | | | | ORPHA | 1 | | 491 | 3811 | 164874 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FOXG1 CL E G H | 2290 | 3095 | | | | ORPHA | 1 | | 534 | 3811 | 164874 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FOXG1 CL E G H | 2290 | 261144 | | | | ORPHA | 1 | | 491 | 3811 | 164874 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FOXG1 CL E G H | 2290 | 261144 | | | | ORPHA | 1 | | 534 | 3811 | 164874 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FOXH1 CL E G H | 8928 | 280200 | | | | ORPHA | 1 | | 206 | 3814 | 603621 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FOXH1 CL E G H | 8928 | 280200 | | | | ORPHA | 1 | | 220 | 3814 | 603621 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FRAS1 CL E G H | 80144 | 219000 | Cryptophthalmos syndrome | 219000 | C0265233 | OMIM | 1 | | 737 | 19185 | 607830 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | FRAS1 CL E G H | 80144 | 219000 | Cryptophthalmos syndrome | 219000 | C0265233 | OMIM | 1 | | 822 | 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 | | 152 | 24678 | 610966 |
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 | | 177 | 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 | | 159 | 24861 | 611045 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | G6PC3 CL E G H | 92579 | 612541 | Severe congenital neutropenia 4, autosomal recessive | 612541 | C2675526 | OMIM | 1 | | 198 | 24861 | 611045 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GABBR2 CL E G H | 9568 | 3095 | | | | ORPHA | 1 | | 504 | 4507 | 607340 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GABBR2 CL E G H | 9568 | 3095 | | | | ORPHA | 1 | | 557 | 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 | | 504 | 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 | | 557 | 4507 | 607340 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GABRD CL E G H | 2563 | 1606 | | | | ORPHA | 1 | | 340 | 4084 | 137163 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GABRD CL E G H | 2563 | 1606 | | | | ORPHA | 1 | | 361 | 4084 | 137163 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GAD1 CL E G H | 2571 | 603513 | Cerebral palsy, spastic quadriplegic, 1 | 603513 | C2751938 | OMIM | 1 | | 141 | 4092 | 605363 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GAD1 CL E G H | 2571 | 603513 | Cerebral palsy, spastic quadriplegic, 1 | 603513 | C2751938 | OMIM | 1 | | 162 | 4092 | 605363 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GAS1 CL E G H | 2619 | 280200 | | | | ORPHA | 1 | | 52 | 4165 | 139185 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GAS1 CL E G H | 2619 | 280200 | | | | ORPHA | 1 | | 58 | 4165 | 139185 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GATA4 CL E G H | 2626 | 251071 | | | | ORPHA | 1 | | 464 | 4173 | 600576 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GATA4 CL E G H | 2626 | 251071 | | | | ORPHA | 1 | | 541 | 4173 | 600576 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GBA CL E G H | 2629 | 608013 | Gaucher disease, perinatal lethal | 608013 | C1842704 | OMIM | 1 | | 261 | 4177 | 606463 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GBA CL E G H | 2629 | 608013 | Gaucher disease, perinatal lethal | 608013 | C1842704 | OMIM | 1 | | 269 | 4177 | 606463 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GFM1 CL E G H | 85476 | 609060 | Combined oxidative phosphorylation deficiency 1 | 609060 | C1836797 | OMIM | 1 | | 385 | 13780 | 606639 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GFM1 CL E G H | 85476 | 609060 | Combined oxidative phosphorylation deficiency 1 | 609060 | C1836797 | OMIM | 1 | | 432 | 13780 | 606639 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GJA1 CL E G H | 2697 | 164200 | Oculodentodigital dysplasia | 164200 | C0812437 | OMIM | 1 | | 169 | 4274 | 121014 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GJA1 CL E G H | 2697 | 164200 | Oculodentodigital dysplasia | 164200 | C0812437 | OMIM | 1 | | 191 | 4274 | 121014 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GJA1 CL E G H | 2697 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 169 | 4274 | 121014 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GJA1 CL E G H | 2697 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 191 | 4274 | 121014 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GJA5 CL E G H | 2702 | 612474 | 1q21.1 recurrent microdeletion | 612474 | C2675897 | OMIM | 1 | | 385 | 4279 | 121013 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GJA5 CL E G H | 2702 | 612474 | 1q21.1 recurrent microdeletion | 612474 | C2675897 | OMIM | 1 | | 429 | 4279 | 121013 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GJA8 CL E G H | 2703 | 612474 | 1q21.1 recurrent microdeletion | 612474 | C2675897 | OMIM | 1 | | 376 | 4281 | 600897 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GJA8 CL E G H | 2703 | 612474 | 1q21.1 recurrent microdeletion | 612474 | C2675897 | OMIM | 1 | | 391 | 4281 | 600897 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GJB3 CL E G H | 2707 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 145 | 4285 | 603324 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GJB3 CL E G H | 2707 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 156 | 4285 | 603324 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GJB4 CL E G H | 127534 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 53 | 4286 | 605425 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GJB4 CL E G H | 127534 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 54 | 4286 | 605425 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GLI2 CL E G H | 2736 | 280200 | | | | ORPHA | 1 | | 469 | 4318 | 165230 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GLI2 CL E G H | 2736 | 280200 | | | | ORPHA | 1 | | 518 | 4318 | 165230 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GLI2 CL E G H | 2736 | 610829 | Holoprosencephaly 9 | 610829 | C1835819 | OMIM | 1 | | 469 | 4318 | 165230 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GLI2 CL E G H | 2736 | 610829 | Holoprosencephaly 9 | 610829 | C1835819 | OMIM | 1 | | 518 | 4318 | 165230 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 49 | 24247 | 610516 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 67 | 24247 | 610516 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GMNN CL E G H | 51053 | 2554 | | | | ORPHA | 1 | | 39 | 17493 | 602842 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GMNN CL E G H | 51053 | 2554 | | | | ORPHA | 1 | | 45 | 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 | | 203 | 22932 | 615320 |
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 | | 234 | 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 | | 203 | 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 | | 234 | 22932 | 615320 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GNPAT CL E G H | 8443 | 222765 | Rhizomelic chondrodysplasia punctata type 2 | 222765 | C1857242 | OMIM | 1 | | 193 | 4416 | 602744 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GNPAT CL E G H | 8443 | 222765 | Rhizomelic chondrodysplasia punctata type 2 | 222765 | C1857242 | OMIM | 1 | | 241 | 4416 | 602744 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GORAB CL E G H | 92344 | 231070 | Geroderma osteodysplastica | 231070 | C0432255 | OMIM | 1 | | 130 | 25676 | 607983 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GORAB CL E G H | 92344 | 231070 | Geroderma osteodysplastica | 231070 | C0432255 | OMIM | 1 | | 174 | 25676 | 607983 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GPKOW CL E G H | 27238 | 2570 | Growth deficiency brachydactyly unusual facies | | | ORPHA | 1 | | 167 | 30677 | 301003 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GPKOW CL E G H | 27238 | 2570 | Growth deficiency brachydactyly unusual facies | | | ORPHA | 1 | | 170 | 30677 | 301003 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GPT2 CL E G H | 84706 | 477673 | ANO5-Related Disorders | | CN239193 | ORPHA | 1 | | 74 | 18062 | 138210 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GPT2 CL E G H | 84706 | 477673 | ANO5-Related Disorders | | CN239193 | ORPHA | 1 | | 76 | 18062 | 138210 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GPT2 CL E G H | 84706 | 616281 | Mental retardation, autosomal recessive 49 | 616281 | C4225388 | OMIM | 1 | | 74 | 18062 | 138210 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GPT2 CL E G H | 84706 | 616281 | Mental retardation, autosomal recessive 49 | 616281 | C4225388 | OMIM | 1 | | 76 | 18062 | 138210 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GRIN2D CL E G H | 2906 | 617162 | Epileptic encephalopathy, early infantile, 46 | 617162 | C4310687 | OMIM | 1 | | 128 | 4588 | 602717 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GRIN2D CL E G H | 2906 | 617162 | Epileptic encephalopathy, early infantile, 46 | 617162 | C4310687 | OMIM | 1 | | 316 | 4588 | 602717 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GTF2E2 CL E G H | 2961 | 616943 | Trichothiodystrophy 6, nonphotosensitive | 616943 | C4310785 | OMIM | 1 | | 90 | 4651 | 189964 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GTF2E2 CL E G H | 2961 | 616943 | Trichothiodystrophy 6, nonphotosensitive | 616943 | C4310785 | OMIM | 1 | | 116 | 4651 | 189964 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GTF2I CL E G H | 2969 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 159 | 4659 | 601679 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GTF2I CL E G H | 2969 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 160 | 4659 | 601679 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GTF2IRD1 CL E G H | 9569 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 211 | 4661 | 604318 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | GTF2IRD1 CL E G H | 9569 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 213 | 4661 | 604318 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HBA1 CL E G H | 3039 | 98791 | | | | ORPHA | 1 | | 369 | 4823 | 141800 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HBA1 CL E G H | 3039 | 98791 | | | | ORPHA | 1 | | 375 | 4823 | 141800 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HBA2 CL E G H | 3040 | 98791 | | | | ORPHA | 1 | | 303 | 4824 | 141850 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HBA2 CL E G H | 3040 | 98791 | | | | ORPHA | 1 | | 320 | 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 | | 214 | 4837 | 300056 |
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 | | 220 | 4837 | 300056 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HCFC1 CL E G H | 3054 | 309541 | Mental retardation 3, X-linked | 309541 | C0796208 | OMIM | 1 | | 601 | 4839 | 300019 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HCFC1 CL E G H | 3054 | 309541 | Mental retardation 3, X-linked | 309541 | C0796208 | OMIM | 1 | | 634 | 4839 | 300019 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HDAC4 CL E G H | 9759 | 1001 | Branchial arch defects | | | ORPHA | 1 | | 385 | 14063 | 605314 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HDAC4 CL E G H | 9759 | 1001 | Branchial arch defects | | | ORPHA | 1 | | 407 | 14063 | 605314 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HDAC8 CL E G H | 55869 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 269 | 13315 | 300269 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HDAC8 CL E G H | 55869 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 287 | 13315 | 300269 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HDAC8 CL E G H | 55869 | 300882 | Cornelia de Lange syndrome 5 | 300882 | C3550903 | OMIM | 1 | | 269 | 13315 | 300269 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HDAC8 CL E G H | 55869 | 300882 | Cornelia de Lange syndrome 5 | 300882 | C3550903 | OMIM | 1 | | 287 | 13315 | 300269 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HHAT CL E G H | 55733 | 1422 | Cohen Hayden syndrome | | | ORPHA | 1 | | 56 | 18270 | 605743 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HHAT CL E G H | 55733 | 1422 | Cohen Hayden syndrome | | | ORPHA | 1 | | 62 | 18270 | 605743 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HMGB3 CL E G H | 3149 | 300915 | Microphthalmia, syndromic 13 | 300915 | C3806742 | OMIM | 1 | | 189 | 5004 | 300193 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HMGB3 CL E G H | 3149 | 300915 | Microphthalmia, syndromic 13 | 300915 | C3806742 | OMIM | 1 | | 192 | 5004 | 300193 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HNMT CL E G H | 3176 | 616739 | Mental retardation, autosomal recessive 51 | 616739 | C4225220 | OMIM | 1 | | 37 | 5028 | 605238 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HNMT CL E G H | 3176 | 616739 | Mental retardation, autosomal recessive 51 | 616739 | C4225220 | OMIM | 1 | | 40 | 5028 | 605238 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HNRNPU CL E G H | 3192 | 238769 | | | | ORPHA | 1 | | 498 | 5048 | 602869 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HNRNPU CL E G H | 3192 | 238769 | | | | ORPHA | 1 | | 571 | 5048 | 602869 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HNRNPU CL E G H | 3192 | 617391 | Epileptic encephalopathy, early infantile, 54 | 617391 | C4479319 | OMIM | 1 | | 498 | 5048 | 602869 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | HNRNPU CL E G H | 3192 | 617391 | Epileptic encephalopathy, early infantile, 54 | 617391 | C4479319 | OMIM | 1 | | 571 | 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 | | 140 | 27302 | 615316 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 161 | 27302 | 615316 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | IER3IP1 CL E G H | 51124 | 614231 | Microcephaly, epilepsy, and diabetes syndrome | 614231 | C3280240 | OMIM | 1 | | 109 | 18550 | 609382 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | IER3IP1 CL E G H | 51124 | 614231 | Microcephaly, epilepsy, and diabetes syndrome | 614231 | C3280240 | OMIM | 1 | | 118 | 18550 | 609382 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 1 | | 476 | 18873 | 606951 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 1 | | 718 | 18873 | 606951 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | IFT74 CL E G H | 80173 | 617119 | Bardet-Biedl syndrome 20 | 617119 | C4310707 | OMIM | 1 | | 142 | 21424 | 608040 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | IFT74 CL E G H | 80173 | 617119 | Bardet-Biedl syndrome 20 | 617119 | C4310707 | OMIM | 1 | | 210 | 21424 | 608040 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | IGF1 CL E G H | 3479 | 73272 | | | | ORPHA | 1 | | 170 | 5464 | 147440 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | IGF1 CL E G H | 3479 | 73272 | | | | ORPHA | 1 | | 178 | 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 | | 170 | 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 | | 178 | 5464 | 147440 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | IGF1R CL E G H | 3480 | 73273 | | | | ORPHA | 1 | | 662 | 5465 | 147370 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | IGF1R CL E G H | 3480 | 73273 | | | | ORPHA | 1 | | 680 | 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 | | 662 | 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 | | 680 | 5465 | 147370 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | IKBKG CL E G H | 8517 | 308300 | Incontinentia pigmenti syndrome | 308300 | C0021171 | OMIM | 1 | | 326 | 5961 | 300248 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | IKBKG CL E G H | 8517 | 308300 | Incontinentia pigmenti syndrome | 308300 | C0021171 | OMIM | 1 | | 337 | 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 | | 155 | 6139 | 605025 |
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 | | 168 | 6139 | 605025 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ITGB6 CL E G H | 3694 | 2850 | | | | ORPHA | 1 | | 90 | 6161 | 147558 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | ITGB6 CL E G H | 3694 | 2850 | | | | ORPHA | 1 | | 92 | 6161 | 147558 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KAT6A CL E G H | 7994 | 457193 | | | | ORPHA | 1 | | 400 | 13013 | 601408 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KAT6A CL E G H | 7994 | 457193 | | | | ORPHA | 1 | | 427 | 13013 | 601408 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KAT6A CL E G H | 7994 | 616268 | Mental retardation, autosomal dominant 32 | 616268 | C4225396 | OMIM | 1 | | 400 | 13013 | 601408 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KAT6A CL E G H | 7994 | 616268 | Mental retardation, autosomal dominant 32 | 616268 | C4225396 | OMIM | 1 | | 427 | 13013 | 601408 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KAT6B CL E G H | 23522 | 3047 | | | | ORPHA | 1 | | 396 | 17582 | 605880 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KAT6B CL E G H | 23522 | 3047 | | | | ORPHA | 1 | | 487 | 17582 | 605880 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KAT6B CL E G H | 23522 | 85201 | | | | ORPHA | 1 | | 396 | 17582 | 605880 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KAT6B CL E G H | 23522 | 85201 | | | | ORPHA | 1 | | 487 | 17582 | 605880 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KAT6B CL E G H | 23522 | 606170 | Genitopatellar syndrome | 606170 | C1853566 | OMIM | 1 | | 396 | 17582 | 605880 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KAT6B CL E G H | 23522 | 606170 | Genitopatellar syndrome | 606170 | C1853566 | OMIM | 1 | | 487 | 17582 | 605880 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KAT6B CL E G H | 23522 | 603736 | Young Simpson syndrome | 603736 | C1863557 | OMIM | 1 | | 396 | 17582 | 605880 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KAT6B CL E G H | 23522 | 603736 | Young Simpson syndrome | 603736 | C1863557 | OMIM | 1 | | 487 | 17582 | 605880 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KATNB1 CL E G H | 10300 | 616212 | Lissencephaly 6, with microcephaly | 616212 | C4015525 | OMIM | 1 | | 153 | 6217 | 602703 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KATNB1 CL E G H | 10300 | 616212 | Lissencephaly 6, with microcephaly | 616212 | C4015525 | OMIM | 1 | | 169 | 6217 | 602703 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KCNAB2 CL E G H | 8514 | 1606 | | | | ORPHA | 1 | | 88 | 6229 | 601142 |
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 | | 301 | 6257 | 600937 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KCNJ11 CL E G H | 3767 | 276580 | | | | ORPHA | 1 | | 322 | 6257 | 600937 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KCNJ2 CL E G H | 3759 | 170390 | Andersen Tawil syndrome | 170390 | C1563715 | OMIM | 1 | | 404 | 6263 | 600681 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KCNJ2 CL E G H | 3759 | 170390 | Andersen Tawil syndrome | 170390 | C1563715 | OMIM | 1 | | 449 | 6263 | 600681 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 101 | 6267 | 600877 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 115 | 6267 | 600877 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KCNJ6 CL E G H | 3763 | 614098 | Keppen-Lubinsky syndrome | 614098 | C3279800 | OMIM | 1 | | 101 | 6267 | 600877 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KCNJ6 CL E G H | 3763 | 614098 | Keppen-Lubinsky syndrome | 614098 | C3279800 | OMIM | 1 | | 115 | 6267 | 600877 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KCNT1 CL E G H | 57582 | 614959 | Early infantile epileptic encephalopathy 14 | 614959 | C3554195 | OMIM | 1 | | 1303 | 18865 | 608167 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KCNT1 CL E G H | 57582 | 614959 | Early infantile epileptic encephalopathy 14 | 614959 | C3554195 | OMIM | 1 | | 1476 | 18865 | 608167 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KDM6A CL E G H | 7403 | 2322 | | | | ORPHA | 1 | | 502 | 12637 | 300128 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KDM6A CL E G H | 7403 | 2322 | | | | ORPHA | 1 | | 562 | 12637 | 300128 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KDM6A CL E G H | 7403 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 502 | 12637 | 300128 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KDM6A CL E G H | 7403 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 562 | 12637 | 300128 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KDSR CL E G H | 2531 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 93 | 4021 | 136440 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KDSR CL E G H | 2531 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 96 | 4021 | 136440 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KIF11 CL E G H | 3832 | 2526 | | | | ORPHA | 1 | | 405 | 6388 | 148760 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KIF11 CL E G H | 3832 | 2526 | | | | ORPHA | 1 | | 498 | 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 | | 405 | 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 | | 498 | 6388 | 148760 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KIF14 CL E G H | 9928 | 2512 | | | | ORPHA | 1 | | 135 | 19181 | 611279 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KIF14 CL E G H | 9928 | 2512 | | | | ORPHA | 1 | | 151 | 19181 | 611279 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KIF14 CL E G H | 9928 | 616258 | Meckel syndrome 12 | 616258 | C4015701 | OMIM | 1 | | 135 | 19181 | 611279 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KIF14 CL E G H | 9928 | 616258 | Meckel syndrome 12 | 616258 | C4015701 | OMIM | 1 | | 151 | 19181 | 611279 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1441 | 888 | 601255 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1735 | 888 | 601255 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KIF1A CL E G H | 547 | 614255 | Mental retardation, autosomal dominant 9 | 614255 | C3280283 | OMIM | 1 | | 1441 | 888 | 601255 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KIF1A CL E G H | 547 | 614255 | Mental retardation, autosomal dominant 9 | 614255 | C3280283 | OMIM | 1 | | 1735 | 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 | | 286 | 6317 | 603060 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KIF1C CL E G H | 10749 | 397946 | | | | ORPHA | 1 | | 335 | 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 | | 163 | 6318 | 602591 |
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 | | 223 | 6318 | 602591 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KIF5A CL E G H | 3798 | 617235 | Myoclonus, intractable, neonatal | 617235 | C4310658 | OMIM | 1 | | 369 | 6323 | 602821 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KIF5A CL E G H | 3798 | 617235 | Myoclonus, intractable, neonatal | 617235 | C4310658 | OMIM | 1 | | 548 | 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 | | 171 | 6325 | 604593 |
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 | | 177 | 6325 | 604593 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KLHL7 CL E G H | 55975 | 97297 | | | | ORPHA | 1 | | 176 | 15646 | 611119 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KLHL7 CL E G H | 55975 | 97297 | | | | ORPHA | 1 | | 211 | 15646 | 611119 |
HP:0000252 | HP:0000252 | Microcephaly | 0 | KMT2A CL E G H | 4297 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 673 |