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:0001263 | HP:0001263 | Global developmental delay | 0 | AAAS CL E G H | 8086 | 231550 | Glucocorticoid deficiency with achalasia | 231550 | C0271742 | OMIM | 1 | | 162 | 13666 | 605378 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AAAS CL E G H | 8086 | 231550 | Glucocorticoid deficiency with achalasia | 231550 | C0271742 | OMIM | 1 | | 174 | 13666 | 605378 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 1 | | | 20 | 601065 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AARS CL E G H | 16 | 616339 | Epileptic encephalopathy, early infantile, 29 | 616339 | C4225361 | OMIM | 1 | | | 20 | 601065 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ABAT CL E G H | 18 | 613163 | Gamma-aminobutyric acid transaminase deficiency | 613163 | C0342708 | OMIM | 1 | | 417 | 23 | 137150 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ABAT CL E G H | 18 | 613163 | Gamma-aminobutyric acid transaminase deficiency | 613163 | C0342708 | OMIM | 1 | | 507 | 23 | 137150 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ABCB7 CL E G H | 22 | 2802 | | | | ORPHA | 1 | | 246 | 48 | 300135 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ABCB7 CL E G H | 22 | 2802 | | | | ORPHA | 1 | | 251 | 48 | 300135 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ABCC8 CL E G H | 6833 | 99885 | | | | ORPHA | 1 | | 1125 | 59 | 600509 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ABCC8 CL E G H | 6833 | 99885 | | | | ORPHA | 1 | | 1253 | 59 | 600509 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ABCC8 CL E G H | 6833 | 99886 | | | | ORPHA | 1 | | 1125 | 59 | 600509 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ABCC8 CL E G H | 6833 | 99886 | | | | ORPHA | 1 | | 1253 | 59 | 600509 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ABCC8 CL E G H | 6833 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 1125 | 59 | 600509 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ABCC8 CL E G H | 6833 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 1253 | 59 | 600509 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 173 | 21396 | 604780 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 184 | 21396 | 604780 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACADM CL E G H | 34 | 201450 | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 201450 | C0220710 | OMIM | 1 | | 491 | 89 | 607008 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACADM CL E G H | 34 | 201450 | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 201450 | C0220710 | OMIM | 1 | | 559 | 89 | 607008 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACADS CL E G H | 35 | 201470 | Deficiency of butyryl-CoA dehydrogenase | 201470 | C0342783 | OMIM | 1 | | 262 | 90 | 606885 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACADS CL E G H | 35 | 201470 | Deficiency of butyryl-CoA dehydrogenase | 201470 | C0342783 | OMIM | 1 | | 294 | 90 | 606885 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACADSB CL E G H | 36 | 610006 | Deficiency of 2-methylbutyryl-CoA dehydrogenase | 610006 | C1864912 | OMIM | 1 | | 275 | 91 | 600301 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACADSB CL E G H | 36 | 610006 | Deficiency of 2-methylbutyryl-CoA dehydrogenase | 610006 | C1864912 | OMIM | 1 | | 290 | 91 | 600301 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACAT2 CL E G H | 39 | 614055 | Acetyl-CoA acetyltransferase-2 deficiency | 614055 | C0342735 | OMIM | 1 | | 32 | 94 | 100678 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 1 | | 229 | 25070 | 609377 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 1 | | 321 | 25070 | 609377 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACD CL E G H | 65057 | 616553 | Dyskeratosis congenita, autosomal dominant 6 | 616553 | C4225284 | OMIM | 1 | | 229 | 25070 | 609377 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACD CL E G H | 65057 | 616553 | Dyskeratosis congenita, autosomal dominant 6 | 616553 | C4225284 | OMIM | 1 | | 321 | 25070 | 609377 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 388 | 119 | 609751 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 435 | 119 | 609751 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACOX2 CL E G H | 8309 | 617308 | Bile acid synthesis defect, congenital, 6 | 617308 | C4310624 | OMIM | 1 | | 41 | 120 | 601641 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACOX2 CL E G H | 8309 | 617308 | Bile acid synthesis defect, congenital, 6 | 617308 | C4310624 | OMIM | 1 | | 58 | 120 | 601641 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACSF3 CL E G H | 197322 | 614265 | Combined malonic and methylmalonic aciduria | 614265 | C3280314 | OMIM | 1 | | 570 | 27288 | 614245 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACSF3 CL E G H | 197322 | 614265 | Combined malonic and methylmalonic aciduria | 614265 | C3280314 | OMIM | 1 | | 615 | 27288 | 614245 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACTA1 CL E G H | 58 | 97240 | | | | ORPHA | 1 | | 325 | 129 | 102610 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACTA1 CL E G H | 58 | 97240 | | | | ORPHA | 1 | | 362 | 129 | 102610 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 322 | 132 | 102630 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 349 | 132 | 102630 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACTB CL E G H | 60 | 243310 | Baraitser-Winter syndrome 1 | 243310 | C1855722 | OMIM | 1 | | 322 | 132 | 102630 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACTB CL E G H | 60 | 243310 | Baraitser-Winter syndrome 1 | 243310 | C1855722 | OMIM | 1 | | 349 | 132 | 102630 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 322 | 132 | 102630 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 349 | 132 | 102630 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 347 | 144 | 102560 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 370 | 144 | 102560 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACY1 CL E G H | 95 | 609924 | Aminoacylase 1 deficiency | 609924 | C1835922 | OMIM | 1 | | 63 | 177 | 104620 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACY1 CL E G H | 95 | 609924 | Aminoacylase 1 deficiency | 609924 | C1835922 | OMIM | 1 | | 78 | 177 | 104620 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADAMTSL2 CL E G H | 9719 | 231050 | Geleophysic dysplasia 1 | 231050 | C3278147 | OMIM | 1 | | 242 | 14631 | 612277 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADAMTSL2 CL E G H | 9719 | 231050 | Geleophysic dysplasia 1 | 231050 | C3278147 | OMIM | 1 | | 244 | 14631 | 612277 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 1 | | 471 | 225 | 146920 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 1 | | 654 | 225 | 146920 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADD3 CL E G H | 120 | 617008 | Cerebral palsy, spastic quadriplegic, 3 | 617008 | C4310767 | OMIM | 1 | | 52 | 245 | 601568 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADD3 CL E G H | 120 | 617008 | Cerebral palsy, spastic quadriplegic, 3 | 617008 | C4310767 | OMIM | 1 | | 88 | 245 | 601568 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADK CL E G H | 132 | 614300 | Hypermethioninemia due to adenosine kinase deficiency | 614300 | C3280381 | OMIM | 1 | | 73 | 257 | 102750 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADK CL E G H | 132 | 614300 | Hypermethioninemia due to adenosine kinase deficiency | 614300 | C3280381 | OMIM | 1 | | 79 | 257 | 102750 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADNP CL E G H | 23394 | 615873 | Helsmoortel-van der aa syndrome | 615873 | C4014538 | OMIM | 1 | | 251 | 15766 | 611386 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADNP CL E G H | 23394 | 615873 | Helsmoortel-van der aa syndrome | 615873 | C4014538 | OMIM | 1 | | 268 | 15766 | 611386 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 368 | 291 | 608222 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 582 | 291 | 608222 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AFF4 CL E G H | 27125 | 616368 | Chops syndrome | 616368 | C4085597 | OMIM | 1 | | 112 | 17869 | 604417 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AFF4 CL E G H | 27125 | 616368 | Chops syndrome | 616368 | C4085597 | OMIM | 1 | | 157 | 17869 | 604417 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AGTPBP1 CL E G H | 23287 | 618276 | 618276 | 618276 | | OMIM | 1 | | 64 | 17258 | 606830 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 113 | 343 | 180960 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 126 | 343 | 180960 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AHCY CL E G H | 191 | 613752 | Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency | 613752 | C3151058 | OMIM | 1 | | 113 | 343 | 180960 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AHCY CL E G H | 191 | 613752 | Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency | 613752 | C3151058 | OMIM | 1 | | 126 | 343 | 180960 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AHDC1 CL E G H | 27245 | 615829 | Xia-Gibbs syndrome | 615829 | C4014419 | OMIM | 1 | | 312 | 25230 | 615790 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AHDC1 CL E G H | 27245 | 615829 | Xia-Gibbs syndrome | 615829 | C4014419 | OMIM | 1 | | 373 | 25230 | 615790 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 413 | 8768 | 300169 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 450 | 8768 | 300169 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AIMP1 CL E G H | 9255 | 260600 | Leukodystrophy, hypomyelinating 3 | 260600 | C1850053 | OMIM | 1 | | 52 | 10648 | 603605 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AIMP1 CL E G H | 9255 | 260600 | Leukodystrophy, hypomyelinating 3 | 260600 | C1850053 | OMIM | 1 | | 66 | 10648 | 603605 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AKT1 CL E G H | 207 | 201 | | | | ORPHA | 1 | | 380 | 391 | 164730 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AKT1 CL E G H | 207 | 201 | | | | ORPHA | 1 | | 417 | 391 | 164730 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH18A1 CL E G H | 5832 | 35664 | | | | ORPHA | 1 | | 346 | 9722 | 138250 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH18A1 CL E G H | 5832 | 35664 | | | | ORPHA | 1 | | 392 | 9722 | 138250 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH18A1 CL E G H | 5832 | 616603 | Cutis laxa, autosomal dominant 3 | 616603 | C4225268 | OMIM | 1 | | 346 | 9722 | 138250 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH18A1 CL E G H | 5832 | 616603 | Cutis laxa, autosomal dominant 3 | 616603 | C4225268 | OMIM | 1 | | 392 | 9722 | 138250 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH18A1 CL E G H | 5832 | 219150 | Cutis laxa-corneal clouding-oligophrenia syndrome | 219150 | C0268354 | OMIM | 1 | | 346 | 9722 | 138250 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH18A1 CL E G H | 5832 | 219150 | Cutis laxa-corneal clouding-oligophrenia syndrome | 219150 | C0268354 | OMIM | 1 | | 392 | 9722 | 138250 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH18A1 CL E G H | 5832 | 616586 | Spastic paraplegia 9b, autosomal recessive | 616586 | C4225272 | OMIM | 1 | | 346 | 9722 | 138250 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH18A1 CL E G H | 5832 | 616586 | Spastic paraplegia 9b, autosomal recessive | 616586 | C4225272 | OMIM | 1 | | 392 | 9722 | 138250 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH5A1 CL E G H | 7915 | 22 | AFib amyloidosis | | CN244920 | ORPHA | 1 | | 472 | 408 | 610045 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH5A1 CL E G H | 7915 | 22 | AFib amyloidosis | | CN244920 | ORPHA | 1 | | 537 | 408 | 610045 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 472 | 408 | 610045 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 537 | 408 | 610045 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH6A1 CL E G H | 4329 | 614105 | Methylmalonate semialdehyde dehydrogenase deficiency | 614105 | C3279840 | OMIM | 1 | | 133 | 7179 | 603178 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH6A1 CL E G H | 4329 | 614105 | Methylmalonate semialdehyde dehydrogenase deficiency | 614105 | C3279840 | OMIM | 1 | | 146 | 7179 | 603178 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH7A1 CL E G H | 501 | 3006 | | | | ORPHA | 1 | | 619 | 877 | 107323 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH7A1 CL E G H | 501 | 3006 | | | | ORPHA | 1 | | 696 | 877 | 107323 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH7A1 CL E G H | 501 | 266100 | Pyridoxine-dependent epilepsy | 266100 | C1849508 | OMIM | 1 | | 619 | 877 | 107323 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH7A1 CL E G H | 501 | 266100 | Pyridoxine-dependent epilepsy | 266100 | C1849508 | OMIM | 1 | | 696 | 877 | 107323 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG1 CL E G H | 56052 | 79327 | | | | ORPHA | 1 | | 260 | 18294 | 605907 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG1 CL E G H | 56052 | 79327 | | | | ORPHA | 1 | | 391 | 18294 | 605907 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG1 CL E G H | 56052 | 608540 | Congenital disorder of glycosylation type 1K | 608540 | C2931005 | OMIM | 1 | | 260 | 18294 | 605907 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG1 CL E G H | 56052 | 608540 | Congenital disorder of glycosylation type 1K | 608540 | C2931005 | OMIM | 1 | | 391 | 18294 | 605907 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG11 CL E G H | 440138 | 613661 | Congenital disorder of glycosylation type 1P | 613661 | C3150913 | OMIM | 1 | | 170 | 32456 | 613666 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG11 CL E G H | 440138 | 613661 | Congenital disorder of glycosylation type 1P | 613661 | C3150913 | OMIM | 1 | | 179 | 32456 | 613666 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG12 CL E G H | 79087 | 607143 | ALG12-congenital disorder of glycosylation | 607143 | C2931001 | OMIM | 1 | | 302 | 19358 | 607144 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG12 CL E G H | 79087 | 607143 | ALG12-congenital disorder of glycosylation | 607143 | C2931001 | OMIM | 1 | | 390 | 19358 | 607144 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG13 CL E G H | 79868 | 300884 | Epileptic encephalopathy, early infantile, 36 | 300884 | C3550904 | OMIM | 1 | | 633 | 30881 | 300776 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG13 CL E G H | 79868 | 300884 | Epileptic encephalopathy, early infantile, 36 | 300884 | C3550904 | OMIM | 1 | | 710 | 30881 | 300776 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG2 CL E G H | 85365 | 607906 | Congenital disorder of glycosylation type 1I | 607906 | C1842836 | OMIM | 1 | | 193 | 23159 | 607905 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG2 CL E G H | 85365 | 607906 | Congenital disorder of glycosylation type 1I | 607906 | C1842836 | OMIM | 1 | | 241 | 23159 | 607905 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG3 CL E G H | 10195 | 79321 | | | | ORPHA | 1 | | 159 | 23056 | 608750 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG3 CL E G H | 10195 | 79321 | | | | ORPHA | 1 | | 166 | 23056 | 608750 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG3 CL E G H | 10195 | 601110 | Congenital disorder of glycosylation type 1D | 601110 | C1832736 | OMIM | 1 | | 159 | 23056 | 608750 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG3 CL E G H | 10195 | 601110 | Congenital disorder of glycosylation type 1D | 601110 | C1832736 | OMIM | 1 | | 166 | 23056 | 608750 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG6 CL E G H | 29929 | 79320 | | | | ORPHA | 1 | | 314 | 23157 | 604566 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG6 CL E G H | 29929 | 79320 | | | | ORPHA | 1 | | 404 | 23157 | 604566 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG6 CL E G H | 29929 | 603147 | Congenital disorder of glycosylation type 1C | 603147 | C2930997 | OMIM | 1 | | 314 | 23157 | 604566 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG6 CL E G H | 29929 | 603147 | Congenital disorder of glycosylation type 1C | 603147 | C2930997 | OMIM | 1 | | 404 | 23157 | 604566 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG9 CL E G H | 79796 | 608776 | ALG9 congenital disorder of glycosylation | 608776 | C2931006 | OMIM | 1 | | 212 | 15672 | 606941 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG9 CL E G H | 79796 | 608776 | ALG9 congenital disorder of glycosylation | 608776 | C2931006 | OMIM | 1 | | 222 | 15672 | 606941 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 2504 | 428 | 606844 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 3342 | 428 | 606844 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALX4 CL E G H | 60529 | 52022 | | | | ORPHA | 1 | | 245 | 450 | 605420 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALX4 CL E G H | 60529 | 52022 | | | | ORPHA | 1 | | 246 | 450 | 605420 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AMPD2 CL E G H | 271 | 615809 | Pontocerebellar hypoplasia, type 9 | 615809 | C4014354 | OMIM | 1 | | 172 | 469 | 102771 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AMPD2 CL E G H | 271 | 615809 | Pontocerebellar hypoplasia, type 9 | 615809 | C4014354 | OMIM | 1 | | 230 | 469 | 102771 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ANK1 CL E G H | 286 | 251066 | | | | ORPHA | 1 | | 567 | 492 | 612641 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ANK1 CL E G H | 286 | 251066 | | | | ORPHA | 1 | | 604 | 492 | 612641 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ANKLE2 CL E G H | 23141 | 2512 | | | | ORPHA | 1 | | 184 | 29101 | 616062 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ANKLE2 CL E G H | 23141 | 2512 | | | | ORPHA | 1 | | 189 | 29101 | 616062 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ANKLE2 CL E G H | 23141 | 616681 | Microcephaly 16, primary, autosomal recessive | 616681 | C4225249 | OMIM | 1 | | 184 | 29101 | 616062 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ANKLE2 CL E G H | 23141 | 616681 | Microcephaly 16, primary, autosomal recessive | 616681 | C4225249 | OMIM | 1 | | 189 | 29101 | 616062 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ANKRD11 CL E G H | 29123 | 2332 | | | | ORPHA | 1 | | 1101 | 21316 | 611192 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ANKRD11 CL E G H | 29123 | 2332 | | | | ORPHA | 1 | | 1184 | 21316 | 611192 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ANKRD11 CL E G H | 29123 | 148050 | KBG syndrome | 148050 | C0220687 | OMIM | 1 | | 1101 | 21316 | 611192 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ANKRD11 CL E G H | 29123 | 148050 | KBG syndrome | 148050 | C0220687 | OMIM | 1 | | 1184 | 21316 | 611192 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP1S1 CL E G H | 1174 | 609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | 609313 | C1836330 | OMIM | 1 | | 53 | 559 | 603531 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP1S1 CL E G H | 1174 | 609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | 609313 | C1836330 | OMIM | 1 | | 55 | 559 | 603531 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP1S2 CL E G H | 8905 | 85329 | | | | ORPHA | 1 | | 216 | 560 | 300629 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP1S2 CL E G H | 8905 | 85329 | | | | ORPHA | 1 | | 219 | 560 | 300629 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP1S2 CL E G H | 8905 | 85335 | | | | ORPHA | 1 | | 216 | 560 | 300629 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP1S2 CL E G H | 8905 | 85335 | | | | ORPHA | 1 | | 219 | 560 | 300629 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 216 | 560 | 300629 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 219 | 560 | 300629 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 1 | | 117 | 567 | 602166 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 1 | | 288 | 567 | 602166 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP3B2 CL E G H | 8120 | 617276 | Epileptic encephalopathy, early infantile, 48 | 617276 | C4310637 | OMIM | 1 | | 117 | 567 | 602166 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP3B2 CL E G H | 8120 | 617276 | Epileptic encephalopathy, early infantile, 48 | 617276 | C4310637 | OMIM | 1 | | 288 | 567 | 602166 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4B1 CL E G H | 10717 | 280763 | | | | ORPHA | 1 | | 189 | 572 | 607245 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4B1 CL E G H | 10717 | 280763 | | | | ORPHA | 1 | | 254 | 572 | 607245 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4B1 CL E G H | 10717 | 614066 | Spastic paraplegia 47, autosomal recessive | 614066 | C3279738 | OMIM | 1 | | 189 | 572 | 607245 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4B1 CL E G H | 10717 | 614066 | Spastic paraplegia 47, autosomal recessive | 614066 | C3279738 | OMIM | 1 | | 254 | 572 | 607245 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4E1 CL E G H | 23431 | 280763 | | | | ORPHA | 1 | | 238 | 573 | 607244 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4E1 CL E G H | 23431 | 280763 | | | | ORPHA | 1 | | 332 | 573 | 607244 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4E1 CL E G H | 23431 | 613744 | Spastic paraplegia 51, autosomal recessive | 613744 | C3151056 | OMIM | 1 | | 238 | 573 | 607244 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4E1 CL E G H | 23431 | 613744 | Spastic paraplegia 51, autosomal recessive | 613744 | C3151056 | OMIM | 1 | | 332 | 573 | 607244 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4M1 CL E G H | 9179 | 280763 | | | | ORPHA | 1 | | 199 | 574 | 602296 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4M1 CL E G H | 9179 | 280763 | | | | ORPHA | 1 | | 264 | 574 | 602296 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4M1 CL E G H | 9179 | 612936 | Spastic paraplegia 50, autosomal recessive | 612936 | C2752008 | OMIM | 1 | | 199 | 574 | 602296 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4M1 CL E G H | 9179 | 612936 | Spastic paraplegia 50, autosomal recessive | 612936 | C2752008 | OMIM | 1 | | 264 | 574 | 602296 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4S1 CL E G H | 11154 | 280763 | | | | ORPHA | 1 | | 89 | 575 | 607243 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4S1 CL E G H | 11154 | 280763 | | | | ORPHA | 1 | | 110 | 575 | 607243 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4S1 CL E G H | 11154 | 614067 | Spastic paraplegia 52, autosomal recessive | 614067 | C3279743 | OMIM | 1 | | 89 | 575 | 607243 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4S1 CL E G H | 11154 | 614067 | Spastic paraplegia 52, autosomal recessive | 614067 | C3279743 | OMIM | 1 | | 110 | 575 | 607243 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP5Z1 CL E G H | 9907 | 613647 | Spastic paraplegia 48, autosomal recessive | 613647 | C3150901 | OMIM | 1 | | 713 | 22197 | 613653 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP5Z1 CL E G H | 9907 | 613647 | Spastic paraplegia 48, autosomal recessive | 613647 | C3150901 | OMIM | 1 | | 780 | 22197 | 613653 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | APC2 CL E G H | 10297 | 821 | | | | ORPHA | 1 | | 179 | 24036 | 612034 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | APC2 CL E G H | 10297 | 821 | | | | ORPHA | 1 | | 194 | 24036 | 612034 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 125 | 20492 | 616003 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 129 | 20492 | 616003 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 125 | 20492 | 616003 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 129 | 20492 | 616003 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | APP CL E G H | 351 | 324703 | | | | ORPHA | 1 | | 320 | 620 | 104760 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | APP CL E G H | 351 | 324703 | | | | ORPHA | 1 | | 364 | 620 | 104760 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARFGEF2 CL E G H | 10564 | 608097 | Heterotopia, periventricular, autosomal recessive | 608097 | C1842563 | OMIM | 1 | | 426 | 15853 | 605371 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARFGEF2 CL E G H | 10564 | 608097 | Heterotopia, periventricular, autosomal recessive | 608097 | C1842563 | OMIM | 1 | | 459 | 15853 | 605371 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARG1 CL E G H | 383 | 90 | | | | ORPHA | 1 | | 234 | 663 | 608313 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARG1 CL E G H | 383 | 90 | | | | ORPHA | 1 | | 295 | 663 | 608313 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARG1 CL E G H | 383 | 207800 | Arginase deficiency | 207800 | C0268548 | OMIM | 1 | | 234 | 663 | 608313 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARG1 CL E G H | 383 | 207800 | Arginase deficiency | 207800 | C0268548 | OMIM | 1 | | 295 | 663 | 608313 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 174 | 29216 | 610911 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 210 | 29216 | 610911 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARID1A CL E G H | 8289 | 1465 | | | | ORPHA | 1 | | 383 | 11110 | 603024 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARID1A CL E G H | 8289 | 1465 | | | | ORPHA | 1 | | 442 | 11110 | 603024 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 383 | 11110 | 603024 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 442 | 11110 | 603024 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARID1B CL E G H | 57492 | 1465 | | | | ORPHA | 1 | | 866 | 18040 | 614556 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARID1B CL E G H | 57492 | 1465 | | | | ORPHA | 1 | | 958 | 18040 | 614556 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARID1B CL E G H | 57492 | 251056 | | | | ORPHA | 1 | | 866 | 18040 | 614556 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARID1B CL E G H | 57492 | 251056 | | | | ORPHA | 1 | | 958 | 18040 | 614556 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 866 | 18040 | 614556 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 958 | 18040 | 614556 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARID2 CL E G H | 196528 | 1465 | | | | ORPHA | 1 | | 179 | 18037 | 609539 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARID2 CL E G H | 196528 | 1465 | | | | ORPHA | 1 | | 186 | 18037 | 609539 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 184 | 25419 | 608922 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 222 | 25419 | 608922 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARL13B CL E G H | 200894 | 612291 | Joubert syndrome 8 | 612291 | C2676771 | OMIM | 1 | | 184 | 25419 | 608922 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARL13B CL E G H | 200894 | 612291 | Joubert syndrome 8 | 612291 | C2676771 | OMIM | 1 | | 222 | 25419 | 608922 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 64 | 694 | 604695 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 90 | 694 | 604695 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARL3 CL E G H | 403 | 618161 | JOUBERT SYNDROME 35 | 618161 | | OMIM | 1 | | 64 | 694 | 604695 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARL3 CL E G H | 403 | 618161 | JOUBERT SYNDROME 35 | 618161 | | OMIM | 1 | | 90 | 694 | 604695 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 251 | 20730 | 617612 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 380 | 20730 | 617612 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 251 | 20730 | 617612 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 380 | 20730 | 617612 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARNT2 CL E G H | 9915 | 615926 | Webb-Dattani syndrome | 615926 | C4014708 | OMIM | 1 | | 62 | 16876 | 606036 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARNT2 CL E G H | 9915 | 615926 | Webb-Dattani syndrome | 615926 | C4014708 | OMIM | 1 | | 84 | 16876 | 606036 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARSE CL E G H | 415 | 302950 | Chondrodysplasia punctata 1, X-linked recessive | 302950 | C1844853 | OMIM | 1 | | | 719 | 300180 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 1 | | 62 | 29561 | 611647 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 1 | | 65 | 29561 | 611647 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARV1 CL E G H | 64801 | 617020 | Epileptic encephalopathy, early infantile, 38 | 617020 | C4310762 | OMIM | 1 | | 62 | 29561 | 611647 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARV1 CL E G H | 64801 | 617020 | Epileptic encephalopathy, early infantile, 38 | 617020 | C4310762 | OMIM | 1 | | 65 | 29561 | 611647 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 1 | | 544 | 728 | 602269 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 1 | | 550 | 728 | 602269 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARX CL E G H | 170302 | 452 | | | | ORPHA | 1 | | 565 | 18060 | 300382 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARX CL E G H | 170302 | 452 | | | | ORPHA | 1 | | 624 | 18060 | 300382 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARX CL E G H | 170302 | 300004 | Proud Levine Carpenter syndrome | 300004 | C0796124 | OMIM | 1 | | 565 | 18060 | 300382 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARX CL E G H | 170302 | 300004 | Proud Levine Carpenter syndrome | 300004 | C0796124 | OMIM | 1 | | 624 | 18060 | 300382 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASH1L CL E G H | 55870 | 617796 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 | 617796 | C4540478 | OMIM | 1 | | 156 | 19088 | 607999 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASH1L CL E G H | 55870 | 617796 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 | 617796 | C4540478 | OMIM | 1 | | 173 | 19088 | 607999 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASL CL E G H | 435 | 207900 | Argininosuccinate lyase deficiency | 207900 | C0268547 | OMIM | 1 | | 423 | 746 | 608310 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASL CL E G H | 435 | 207900 | Argininosuccinate lyase deficiency | 207900 | C0268547 | OMIM | 1 | | 469 | 746 | 608310 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 245 | 756 | 608034 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 281 | 756 | 608034 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASPM CL E G H | 259266 | 2512 | | | | ORPHA | 1 | | 920 | 19048 | 605481 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASPM CL E G H | 259266 | 2512 | | | | ORPHA | 1 | | 1103 | 19048 | 605481 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASS1 CL E G H | 445 | 215700 | Citrullinemia type I | 215700 | C0175683 | OMIM | 1 | | 481 | 758 | 603470 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASS1 CL E G H | 445 | 215700 | Citrullinemia type I | 215700 | C0175683 | OMIM | 1 | | 517 | 758 | 603470 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASXL1 CL E G H | 171023 | 97297 | | | | ORPHA | 1 | | 298 | 18318 | 612990 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASXL1 CL E G H | 171023 | 97297 | | | | ORPHA | 1 | | 388 | 18318 | 612990 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 298 | 18318 | 612990 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 388 | 18318 | 612990 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASXL2 CL E G H | 55252 | 617190 | Shashi-Pena syndrome | 617190 | C4310672 | OMIM | 1 | | 111 | 23805 | 612991 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASXL2 CL E G H | 55252 | 617190 | Shashi-Pena syndrome | 617190 | C4310672 | OMIM | 1 | | 170 | 23805 | 612991 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 27 | 25903 | 614452 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 76 | 25903 | 614452 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATAD3A CL E G H | 55210 | 496790 | | | | ORPHA | 1 | | 250 | 25567 | 612316 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATAD3A CL E G H | 55210 | 496790 | | | | ORPHA | 1 | | 264 | 25567 | 612316 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 250 | 25567 | 612316 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 264 | 25567 | 612316 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATCAY CL E G H | 85300 | 94122 | | | | ORPHA | 1 | | 175 | 779 | 608179 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATCAY CL E G H | 85300 | 94122 | | | | ORPHA | 1 | | 179 | 779 | 608179 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATCAY CL E G H | 85300 | 601238 | Cerebellar ataxia, Cayman type | 601238 | C1832585 | OMIM | 1 | | 175 | 779 | 608179 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATCAY CL E G H | 85300 | 601238 | Cerebellar ataxia, Cayman type | 601238 | C1832585 | OMIM | 1 | | 179 | 779 | 608179 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATG5 CL E G H | 9474 | 617584 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 | 617584 | C4539808 | OMIM | 1 | | 33 | 589 | 604261 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP1A1 CL E G H | 476 | 618314 | 618314 | 618314 | | OMIM | 1 | | 86 | 799 | 182310 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP1A1 CL E G H | 476 | 618314 | 618314 | 618314 | | OMIM | 1 | | 131 | 799 | 182310 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 625 | 801 | 182350 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 687 | 801 | 182350 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP5F1D CL E G H | 513 | 618120 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | 618120 | CN253835 | OMIM | 1 | | 42 | 837 | 603150 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP5F1D CL E G H | 513 | 618120 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | 618120 | CN253835 | OMIM | 1 | | 44 | 837 | 603150 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V0A2 CL E G H | 23545 | 2834 | | | | ORPHA | 1 | | 417 | 18481 | 611716 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V0A2 CL E G H | 23545 | 2834 | | | | ORPHA | 1 | | 458 | 18481 | 611716 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V0A2 CL E G H | 23545 | 357074 | | | | ORPHA | 1 | | 417 | 18481 | 611716 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V0A2 CL E G H | 23545 | 357074 | | | | ORPHA | 1 | | 458 | 18481 | 611716 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V1A CL E G H | 523 | 357074 | | | | ORPHA | 1 | | 79 | 851 | 607027 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V1A CL E G H | 523 | 357074 | | | | ORPHA | 1 | | 93 | 851 | 607027 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 1 | | 79 | 851 | 607027 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 1 | | 93 | 851 | 607027 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V1A CL E G H | 523 | 618012 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 | 618012 | CN248521 | OMIM | 1 | | 79 | 851 | 607027 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V1A CL E G H | 523 | 618012 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 | 618012 | CN248521 | OMIM | 1 | | 93 | 851 | 607027 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V1E1 CL E G H | 529 | 357074 | | | | ORPHA | 1 | | 160 | 857 | 108746 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V1E1 CL E G H | 529 | 357074 | | | | ORPHA | 1 | | 168 | 857 | 108746 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 897 | 869 | 300011 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1003 | 869 | 300011 |
HP:0001263 | HP:0001263 | Global developmental delay | 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:0001263 | HP:0001263 | Global developmental delay | 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:0001263 | HP:0001263 | Global developmental delay | 0 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1103 | 886 | 300032 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1217 | 886 | 300032 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 37 | 10560 | 607640 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 39 | 10560 | 607640 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 1 | | 145 | 890 | 600529 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 1 | | 177 | 890 | 600529 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AUTS2 CL E G H | 26053 | 615834 | Mental retardation, autosomal dominant 26 | 615834 | C4014435 | OMIM | 1 | | 439 | 14262 | 607270 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AUTS2 CL E G H | 26053 | 615834 | Mental retardation, autosomal dominant 26 | 615834 | C4014435 | OMIM | 1 | | 454 | 14262 | 607270 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B3GALNT2 CL E G H | 148789 | 899 | | | | ORPHA | 1 | | 343 | 28596 | 610194 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B3GALNT2 CL E G H | 148789 | 899 | | | | ORPHA | 1 | | 411 | 28596 | 610194 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B3GALNT2 CL E G H | 148789 | 615181 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 615181 | C3554638 | OMIM | 1 | | 343 | 28596 | 610194 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B3GALNT2 CL E G H | 148789 | 615181 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 615181 | C3554638 | OMIM | 1 | | 411 | 28596 | 610194 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B3GALT6 CL E G H | 126792 | 75496 | | | | ORPHA | 1 | | 281 | 17978 | 615291 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B3GALT6 CL E G H | 126792 | 75496 | | | | ORPHA | 1 | | 337 | 17978 | 615291 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B3GLCT CL E G H | 145173 | 709 | | | | ORPHA | 1 | | 226 | 20207 | 610308 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B3GLCT CL E G H | 145173 | 709 | | | | ORPHA | 1 | | 248 | 20207 | 610308 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 226 | 20207 | 610308 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 248 | 20207 | 610308 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B4GALT1 CL E G H | 2683 | 607091 | Congenital disorder of glycosylation type 2D | 607091 | C1846816 | OMIM | 1 | | 141 | 924 | 137060 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B4GALT1 CL E G H | 2683 | 607091 | Congenital disorder of glycosylation type 2D | 607091 | C1846816 | OMIM | 1 | | 146 | 924 | 137060 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B4GALT7 CL E G H | 11285 | 75496 | | | | ORPHA | 1 | | 175 | 930 | 604327 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B4GALT7 CL E G H | 11285 | 75496 | | | | ORPHA | 1 | | 237 | 930 | 604327 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B4GALT7 CL E G H | 11285 | 130070 | Ehlers-Danlos syndrome progeroid type | 130070 | C1869122 | OMIM | 1 | | 175 | 930 | 604327 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B4GALT7 CL E G H | 11285 | 130070 | Ehlers-Danlos syndrome progeroid type | 130070 | C1869122 | OMIM | 1 | | 237 | 930 | 604327 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B4GAT1 CL E G H | 11041 | 899 | | | | ORPHA | 1 | | 122 | 15685 | 605517 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B4GAT1 CL E G H | 11041 | 899 | | | | ORPHA | 1 | | 151 | 15685 | 605517 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B4GAT1 CL E G H | 11041 | 615287 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 | 615287 | C3809042 | OMIM | 1 | | 122 | 15685 | 605517 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B4GAT1 CL E G H | 11041 | 615287 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 | 615287 | C3809042 | OMIM | 1 | | 151 | 15685 | 605517 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 196 | 24123 | 614144 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 230 | 24123 | 614144 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B9D1 CL E G H | 27077 | 617120 | Joubert syndrome 27 | 617120 | C4310706 | OMIM | 1 | | 196 | 24123 | 614144 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B9D1 CL E G H | 27077 | 617120 | Joubert syndrome 27 | 617120 | C4310706 | OMIM | 1 | | 230 | 24123 | 614144 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 491 | 966 | 209901 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 582 | 966 | 209901 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BCAP31 CL E G H | 10134 | 300475 | Chromosome Xq28 deletion syndrome | 300475 | C1845408 | OMIM | 1 | | 282 | 16695 | 300398 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BCAP31 CL E G H | 10134 | 300475 | Chromosome Xq28 deletion syndrome | 300475 | C1845408 | OMIM | 1 | | 301 | 16695 | 300398 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BCL11A CL E G H | 53335 | 617101 | Intellectual developmental disorder with persistence of fetal hemoglobin | 617101 | C4310833 | OMIM | 1 | | 125 | 13221 | 606557 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BCL11A CL E G H | 53335 | 617101 | Intellectual developmental disorder with persistence of fetal hemoglobin | 617101 | C4310833 | OMIM | 1 | | 129 | 13221 | 606557 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BCL11B CL E G H | 64919 | 617237 | Immunodeficiency 49 | 617237 | C4310656 | OMIM | 1 | | 118 | 13222 | 606558 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BCL11B CL E G H | 64919 | 617237 | Immunodeficiency 49 | 617237 | C4310656 | OMIM | 1 | | 197 | 13222 | 606558 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BCL11B CL E G H | 64919 | 618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | 618092 | CN253429 | OMIM | 1 | | 118 | 13222 | 606558 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BCL11B CL E G H | 64919 | 618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | 618092 | CN253429 | OMIM | 1 | | 197 | 13222 | 606558 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BCR CL E G H | 613 | 261330 | | | | ORPHA | 1 | | 214 | 1014 | 151410 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BCR CL E G H | 613 | 261330 | | | | ORPHA | 1 | | 217 | 1014 | 151410 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 249 | 1020 | 603647 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 279 | 1020 | 603647 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 249 | 1020 | 603647 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 279 | 1020 | 603647 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BMP2 CL E G H | 650 | 261295 | | | | ORPHA | 1 | | 92 | 1069 | 112261 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BMP2 CL E G H | 650 | 261295 | | | | ORPHA | 1 | | 111 | 1069 | 112261 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BMP4 CL E G H | 652 | 139471 | | | | ORPHA | 1 | | 112 | 1071 | 112262 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BMP4 CL E G H | 652 | 139471 | | | | ORPHA | 1 | | 129 | 1071 | 112262 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BMPER CL E G H | 168667 | 608022 | Diaphanospondylodysostosis | 608022 | C1842691 | OMIM | 1 | | 174 | 24154 | 608699 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BMPER CL E G H | 168667 | 608022 | Diaphanospondylodysostosis | 608022 | C1842691 | OMIM | 1 | | 206 | 24154 | 608699 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 1 | | 64 | 24415 | 613183 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 1 | | 70 | 24415 | 613183 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BPTF CL E G H | 2186 | 617755 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES | 617755 | C4540327 | OMIM | 1 | | 129 | 3581 | 601819 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BPTF CL E G H | 2186 | 617755 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES | 617755 | C4540327 | OMIM | 1 | | 139 | 3581 | 601819 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 618 | 1097 | 164757 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 680 | 1097 | 164757 |
HP:0001263 | HP:0001263 | Global developmental delay | 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:0001263 | HP:0001263 | Global developmental delay | 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:0001263 | HP:0001263 | Global developmental delay | 0 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 725 | 21701 | 614506 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 847 | 21701 | 614506 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRCA1 CL E G H | 672 | 84 | | | | ORPHA | 1 | | 12207 | 1100 | 113705 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRCA1 CL E G H | 672 | 84 | | | | ORPHA | 1 | | 12586 | 1100 | 113705 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRCA1 CL E G H | 672 | 617883 | FANCONI ANEMIA, COMPLEMENTATION GROUP S | 617883 | CN850168 | OMIM | 1 | | 12207 | 1100 | 113705 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRCA1 CL E G H | 672 | 617883 | FANCONI ANEMIA, COMPLEMENTATION GROUP S | 617883 | CN850168 | OMIM | 1 | | 12586 | 1100 | 113705 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRCA2 CL E G H | 675 | 84 | | | | ORPHA | 1 | | 13912 | 1101 | 600185 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRCA2 CL E G H | 675 | 84 | | | | ORPHA | 1 | | 14742 | 1101 | 600185 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRF1 CL E G H | 2972 | 616202 | Cerebellofaciodental syndrome | 616202 | C4015495 | OMIM | 1 | | 142 | 11551 | 604902 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRF1 CL E G H | 2972 | 616202 | Cerebellofaciodental syndrome | 616202 | C4015495 | OMIM | 1 | | 158 | 11551 | 604902 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRIP1 CL E G H | 83990 | 84 | | | | ORPHA | 1 | | 3464 | 20473 | 605882 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRIP1 CL E G H | 83990 | 84 | | | | ORPHA | 1 | | 3778 | 20473 | 605882 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRIP1 CL E G H | 83990 | 609054 | Fanconi anemia, complementation group J | 609054 | C1836860 | OMIM | 1 | | 3464 | 20473 | 605882 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRIP1 CL E G H | 83990 | 609054 | Fanconi anemia, complementation group J | 609054 | C1836860 | OMIM | 1 | | 3778 | 20473 | 605882 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRPF1 CL E G H | 7862 | 617333 | Intellectual developmental disorder with dysmorphic facies and ptosis | 617333 | C4310617 | OMIM | 1 | | 160 | 14255 | 602410 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRPF1 CL E G H | 7862 | 617333 | Intellectual developmental disorder with dysmorphic facies and ptosis | 617333 | C4310617 | OMIM | 1 | | 173 | 14255 | 602410 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BTD CL E G H | 686 | 79241 | | | | ORPHA | 1 | | 366 | 1122 | 609019 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BTD CL E G H | 686 | 79241 | | | | ORPHA | 1 | | 409 | 1122 | 609019 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BTD CL E G H | 686 | 253260 | Biotinidase deficiency | 253260 | C0220754 | OMIM | 1 | | 366 | 1122 | 609019 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BTD CL E G H | 686 | 253260 | Biotinidase deficiency | 253260 | C0220754 | OMIM | 1 | | 409 | 1122 | 609019 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BUB1 CL E G H | 699 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 86 | 1148 | 602452 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BUB1 CL E G H | 699 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 88 | 1148 | 602452 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BUB1B CL E G H | 701 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 511 | 1149 | 602860 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BUB1B CL E G H | 701 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 617 | 1149 | 602860 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BUB3 CL E G H | 9184 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 51 | 1151 | 603719 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | C12orf57 CL E G H | 113246 | 1777 | | | | ORPHA | 1 | | 199 | 29521 | 615140 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | C12orf57 CL E G H | 113246 | 1777 | | | | ORPHA | 1 | | 208 | 29521 | 615140 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | C12orf57 CL E G H | 113246 | 218340 | Temtamy syndrome | 218340 | C1857512 | OMIM | 1 | | 199 | 29521 | 615140 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | C12orf57 CL E G H | 113246 | 218340 | Temtamy syndrome | 218340 | C1857512 | OMIM | 1 | | 208 | 29521 | 615140 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | C12orf65 CL E G H | 91574 | 613559 | Combined oxidative phosphorylation deficiency 7 | 613559 | C3150801 | OMIM | 1 | | | 26784 | 613541 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CA2 CL E G H | 760 | 2785 | | | | ORPHA | 1 | | 104 | 1373 | 611492 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CA2 CL E G H | 760 | 2785 | | | | ORPHA | 1 | | 119 | 1373 | 611492 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 1 | | 2047 | 1388 | 601011 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 1 | | 2326 | 1388 | 601011 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CACNA1A CL E G H | 773 | 617106 | Epileptic encephalopathy, early infantile, 42 | 617106 | C4310716 | OMIM | 1 | | 2047 | 1388 | 601011 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CACNA1A CL E G H | 773 | 617106 | Epileptic encephalopathy, early infantile, 42 | 617106 | C4310716 | OMIM | 1 | | 2326 | 1388 | 601011 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CACNA1C CL E G H | 775 | 601005 | Timothy syndrome | 601005 | C1832916 | OMIM | 1 | | 1658 | 1390 | 114205 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CACNA1C CL E G H | 775 | 601005 | Timothy syndrome | 601005 | C1832916 | OMIM | 1 | | 1830 | 1390 | 114205 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CACNA1D CL E G H | 776 | 369929 | | | | ORPHA | 1 | | 477 | 1391 | 114206 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CACNA1D CL E G H | 776 | 369929 | | | | ORPHA | 1 | | 744 | 1391 | 114206 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CACNA1D CL E G H | 776 | 615474 | Primary aldosteronism, seizures, and neurologic abnormalities | 615474 | C3809609 | OMIM | 1 | | 477 | 1391 | 114206 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CACNA1D CL E G H | 776 | 615474 | Primary aldosteronism, seizures, and neurologic abnormalities | 615474 | C3809609 | OMIM | 1 | | 744 | 1391 | 114206 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CACNA1G CL E G H | 8913 | 618087 | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | 618087 | CN252698 | OMIM | 1 | | 357 | 1394 | 604065 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CACNA1G CL E G H | 8913 | 618087 | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | 618087 | CN252698 | OMIM | 1 | | 374 | 1394 | 604065 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CAD CL E G H | 790 | 616457 | Epileptic encephalopathy, early infantile, 50 | 616457 | C4225320 | OMIM | 1 | | 218 | 1424 | 114010 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CAD CL E G H | 790 | 616457 | Epileptic encephalopathy, early infantile, 50 | 616457 | C4225320 | OMIM | 1 | | 562 | 1424 | 114010 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CAMK2A CL E G H | 815 | 617798 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 | 617798 | C4540481 | OMIM | 1 | | 56 | 1460 | 114078 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CAMK2A CL E G H | 815 | 617798 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 | 617798 | C4540481 | OMIM | 1 | | 62 | 1460 | 114078 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CAMK2A CL E G H | 815 | 618095 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 | 618095 | CN253430 | OMIM | 1 | | 56 | 1460 | 114078 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CAMK2A CL E G H | 815 | 618095 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 | 618095 | CN253430 | OMIM | 1 | | 62 | 1460 | 114078 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 32 | 26276 | 609559 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 33 | 26276 | 609559 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CAMTA1 CL E G H | 23261 | 314647 | | | | ORPHA | 1 | | 284 | 18806 | 611501 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CAMTA1 CL E G H | 23261 | 314647 | | | | ORPHA | 1 | | 298 | 18806 | 611501 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CAMTA1 CL E G H | 23261 | 614756 | Cerebellar ataxia, nonprogressive, with mental retardation | 614756 | C3553661 | OMIM | 1 | | 284 | 18806 | 611501 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CAMTA1 CL E G H | 23261 | 614756 | Cerebellar ataxia, nonprogressive, with mental retardation | 614756 | C3553661 | OMIM | 1 | | 298 | 18806 | 611501 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 531 | 25695 | 612800 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 625 | 25695 | 612800 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CASK CL E G H | 8573 | 300422 | FG syndrome 4 | 300422 | CN033933 | OMIM | 1 | | 583 | 1497 | 300172 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CASK CL E G H | 8573 | 300422 | FG syndrome 4 | 300422 | CN033933 | OMIM | 1 | | 633 | 1497 | 300172 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CASK CL E G H | 8573 | 300749 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | 300749 | C2677903 | OMIM | 1 | | 583 | 1497 | 300172 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CASK CL E G H | 8573 | 300749 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | 300749 | C2677903 | OMIM | 1 | | 633 | 1497 | 300172 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CBL CL E G H | 867 | 613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | 613563 | C3150803 | OMIM | 1 | | 706 | 1541 | 165360 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CBL CL E G H | 867 | 613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | 613563 | C3150803 | OMIM | 1 | | 858 | 1541 | 165360 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CBS CL E G H | 875 | 236200 | Homocystinuria due to CBS deficiency | 236200 | C3150344 | OMIM | 1 | | 792 | 1550 | 613381 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CBS CL E G H | 875 | 236200 | Homocystinuria due to CBS deficiency | 236200 | C3150344 | OMIM | 1 | | 856 | 1550 | 613381 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CC2D1A CL E G H | 54862 | 608443 | Mental retardation, autosomal recessive 3 | 608443 | C1838023 | OMIM | 1 | | 169 | 30237 | 610055 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CC2D1A CL E G H | 54862 | 608443 | Mental retardation, autosomal recessive 3 | 608443 | C1838023 | OMIM | 1 | | 175 | 30237 | 610055 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 1 | | 881 | 29253 | 612013 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 1 | | 1064 | 29253 | 612013 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 881 | 29253 | 612013 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1064 | 29253 | 612013 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CCDC174 CL E G H | 51244 | 616816 | Hypotonia, infantile, with psychomotor retardation | 616816 | C4225196 | OMIM | 1 | | 60 | 28033 | 616735 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CCDC22 CL E G H | 28952 | 300963 | Ritscher-schinzel syndrome 2 | 300963 | C4225419 | OMIM | 1 | | 242 | 28909 | 300859 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CCDC22 CL E G H | 28952 | 300963 | Ritscher-schinzel syndrome 2 | 300963 | C4225419 | OMIM | 1 | | 250 | 28909 | 300859 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CCDC22 CL E G H | 28952 | 7 | Typical Joubert syndrome MRI findings | | CN228298 | ORPHA | 1 | | 242 | 28909 | 300859 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CCDC22 CL E G H | 28952 | 7 | Typical Joubert syndrome MRI findings | | CN228298 | ORPHA | 1 | | 250 | 28909 | 300859 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CCDC88A CL E G H | 55704 | 617507 | PEHO-like syndrome | 617507 | C1850056 | OMIM | 1 | | 67 | 25523 | 609736 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CCDC88A CL E G H | 55704 | 617507 | PEHO-like syndrome | 617507 | C1850056 | OMIM | 1 | | 322 | 25523 | 609736 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CCND2 CL E G H | 894 | 615938 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 615938 | C4014742 | OMIM | 1 | | 110 | 1583 | 123833 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CCND2 CL E G H | 894 | 615938 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 615938 | C4014742 | OMIM | 1 | | 117 | 1583 | 123833 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CCNK CL E G H | 8812 | 618147 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES | 618147 | | OMIM | 1 | | 34 | 1596 | 603544 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CCNK CL E G H | 8812 | 618147 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES | 618147 | | OMIM | 1 | | 37 | 1596 | 603544 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CD96 CL E G H | 10225 | 211750 | C syndrome | 211750 | C0796095 | OMIM | 1 | | 56 | 16892 | 606037 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CD96 CL E G H | 10225 | 211750 | C syndrome | 211750 | C0796095 | OMIM | 1 | | 62 | 16892 | 606037 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDC45 CL E G H | 8318 | 617063 | Meier-gorlin syndrome 7 | 617063 | C4310738 | OMIM | 1 | | 500 | 1739 | 603465 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDC45 CL E G H | 8318 | 617063 | Meier-gorlin syndrome 7 | 617063 | C4310738 | OMIM | 1 | | 542 | 1739 | 603465 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDCA7 CL E G H | 83879 | 2268 | | | | ORPHA | 1 | | 56 | 14628 | 609937 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDCA7 CL E G H | 83879 | 2268 | | | | ORPHA | 1 | | 103 | 14628 | 609937 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDCA7 CL E G H | 83879 | 616910 | Immunodeficiency-centromeric instability-facial anomalies syndrome 3 | 616910 | C4310799 | OMIM | 1 | | 56 | 14628 | 609937 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDCA7 CL E G H | 83879 | 616910 | Immunodeficiency-centromeric instability-facial anomalies syndrome 3 | 616910 | C4310799 | OMIM | 1 | | 103 | 14628 | 609937 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDH11 CL E G H | 1009 | 211380 | Brachioskeletogenital syndrome | 211380 | C0809936 | OMIM | 1 | | 52 | 1750 | 600023 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDH11 CL E G H | 1009 | 211380 | Brachioskeletogenital syndrome | 211380 | C0809936 | OMIM | 1 | | 59 | 1750 | 600023 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDH23 CL E G H | 64072 | 231169 | | | | ORPHA | 1 | | 2612 | 13733 | 605516 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDH23 CL E G H | 64072 | 231169 | | | | ORPHA | 1 | | 3075 | 13733 | 605516 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDK10 CL E G H | 8558 | 617694 | AL KAISSI SYNDROME | 617694 | C4540156 | OMIM | 1 | | 90 | 1770 | 603464 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDK10 CL E G H | 8558 | 617694 | AL KAISSI SYNDROME | 617694 | C4540156 | OMIM | 1 | | 94 | 1770 | 603464 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDK13 CL E G H | 8621 | 617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 617360 | C4479246 | OMIM | 1 | | 191 | 1733 | 603309 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDK13 CL E G H | 8621 | 617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 617360 | C4479246 | OMIM | 1 | | 210 | 1733 | 603309 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDK5 CL E G H | 1020 | 616342 | Lissencephaly 7 with cerebellar hypoplasia | 616342 | C4225359 | OMIM | 1 | | 77 | 1774 | 123831 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDK5 CL E G H | 1020 | 616342 | Lissencephaly 7 with cerebellar hypoplasia | 616342 | C4225359 | OMIM | 1 | | 83 | 1774 | 123831 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDK5RAP2 CL E G H | 55755 | 2512 | | | | ORPHA | 1 | | 454 | 18672 | 608201 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDK5RAP2 CL E G H | 55755 | 2512 | | | | ORPHA | 1 | | 463 | 18672 | 608201 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDK5RAP2 CL E G H | 55755 | 604804 | Primary autosomal recessive microcephaly 3 | 604804 | C1858108 | OMIM | 1 | | 454 | 18672 | 608201 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDK5RAP2 CL E G H | 55755 | 604804 | Primary autosomal recessive microcephaly 3 | 604804 | C1858108 | OMIM | 1 | | 463 | 18672 | 608201 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDK6 CL E G H | 1021 | 2512 | | | | ORPHA | 1 | | 45 | 1777 | 603368 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1270 | 11411 | 300203 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1399 | 11411 | 300203 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDON CL E G H | 50937 | 614226 | Holoprosencephaly 11 | 614226 | C3280215 | OMIM | 1 | | 489 | 17104 | 608707 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDON CL E G H | 50937 | 614226 | Holoprosencephaly 11 | 614226 | C3280215 | OMIM | 1 | | 518 | 17104 | 608707 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CENPJ CL E G H | 55835 | 2512 | | | | ORPHA | 1 | | 347 | 17272 | 609279 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CENPJ CL E G H | 55835 | 2512 | | | | ORPHA | 1 | | 399 | 17272 | 609279 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 354 | 24866 | 616690 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 384 | 24866 | 616690 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 1 | | 210 | 26690 | 613446 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 1 | | 250 | 26690 | 613446 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 210 | 26690 | 613446 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 250 | 26690 | 613446 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP120 CL E G H | 153241 | 617761 | JOUBERT SYNDROME 31 | 617761 | C4540355 | OMIM | 1 | | 210 | 26690 | 613446 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP120 CL E G H | 153241 | 617761 | JOUBERT SYNDROME 31 | 617761 | C4540355 | OMIM | 1 | | 250 | 26690 | 613446 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP135 CL E G H | 9662 | 2512 | | | | ORPHA | 1 | | 176 | 29086 | 611423 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP135 CL E G H | 9662 | 2512 | | | | ORPHA | 1 | | 245 | 29086 | 611423 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP152 CL E G H | 22995 | 2512 | | | | ORPHA | 1 | | 334 | 29298 | 613529 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP152 CL E G H | 22995 | 2512 | | | | ORPHA | 1 | | 404 | 29298 | 613529 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP164 CL E G H | 22897 | 3156 | | | | ORPHA | 1 | | 498 | 29182 | 614848 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP164 CL E G H | 22897 | 3156 | | | | ORPHA | 1 | | 692 | 29182 | 614848 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 1 | | 1535 | 29021 | 610142 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 1 | | 1902 | 29021 | 610142 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP290 CL E G H | 80184 | 3156 | | | | ORPHA | 1 | | 1535 | 29021 | 610142 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP290 CL E G H | 80184 | 3156 | | | | ORPHA | 1 | | 1902 | 29021 | 610142 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP290 CL E G H | 80184 | 615991 | Bardet-Biedl syndrome 14 | 615991 | C2673874 | OMIM | 1 | | 1535 | 29021 | 610142 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP290 CL E G H | 80184 | 615991 | Bardet-Biedl syndrome 14 | 615991 | C2673874 | OMIM | 1 | | 1902 | 29021 | 610142 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 1 | | 297 | 12370 | 610523 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 1 | | 347 | 12370 | 610523 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 297 | 12370 | 610523 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 347 | 12370 | 610523 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP41 CL E G H | 95681 | 614464 | Joubert syndrome 15 | 614464 | C3280897 | OMIM | 1 | | 297 | 12370 | 610523 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP41 CL E G H | 95681 | 614464 | Joubert syndrome 15 | 614464 | C3280897 | OMIM | 1 | | 347 | 12370 | 610523 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP57 CL E G H | 9702 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 212 | 30794 | 607951 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP57 CL E G H | 9702 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 275 | 30794 | 607951 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP63 CL E G H | 80254 | 2512 | | | | ORPHA | 1 | | 167 | 25815 | 614724 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP63 CL E G H | 80254 | 2512 | | | | ORPHA | 1 | | 200 | 25815 | 614724 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP63 CL E G H | 80254 | 614728 | Seckel syndrome 6 | 614728 | C3553582 | OMIM | 1 | | 167 | 25815 | 614724 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP63 CL E G H | 80254 | 614728 | Seckel syndrome 6 | 614728 | C3553582 | OMIM | 1 | | 200 | 25815 | 614724 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHAMP1 CL E G H | 283489 | 616579 | Mental retardation, autosomal dominant 40 | 616579 | C4225275 | OMIM | 1 | | 191 | 20311 | 616327 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHAMP1 CL E G H | 283489 | 616579 | Mental retardation, autosomal dominant 40 | 616579 | C4225275 | OMIM | 1 | | 202 | 20311 | 616327 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHD1 CL E G H | 1105 | 529965 | | | | ORPHA | 1 | | 67 | 1915 | 602118 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHD1 CL E G H | 1105 | 529965 | | | | ORPHA | 1 | | 74 | 1915 | 602118 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHD1 CL E G H | 1105 | 617682 | PILAROWSKI-BJORNSSON SYNDROME | 617682 | C4540131 | OMIM | 1 | | 67 | 1915 | 602118 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHD1 CL E G H | 1105 | 617682 | PILAROWSKI-BJORNSSON SYNDROME | 617682 | C4540131 | OMIM | 1 | | 74 | 1915 | 602118 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHD2 CL E G H | 1106 | 615369 | Epileptic encephalopathy, childhood-onset | 615369 | C3809278 | OMIM | 1 | | 1163 | 1917 | 602119 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHD2 CL E G H | 1106 | 615369 | Epileptic encephalopathy, childhood-onset | 615369 | C3809278 | OMIM | 1 | | 1326 | 1917 | 602119 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHD3 CL E G H | 1107 | 618205 | SNIJDERS BLOK-CAMPEAU SYNDROME | 618205 | | OMIM | 1 | | 141 | 1918 | 602120 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHD3 CL E G H | 1107 | 618205 | SNIJDERS BLOK-CAMPEAU SYNDROME | 618205 | | OMIM | 1 | | 156 | 1918 | 602120 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHD7 CL E G H | 55636 | 138 | | | | ORPHA | 1 | | 1752 | 20626 | 608892 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHD7 CL E G H | 55636 | 138 | | | | ORPHA | 1 | | 1980 | 20626 | 608892 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHMP1A CL E G H | 5119 | 614961 | Pontocerebellar hypoplasia type 8 | 614961 | C3554209 | OMIM | 1 | | 172 | 8740 | 164010 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHMP1A CL E G H | 5119 | 614961 | Pontocerebellar hypoplasia type 8 | 614961 | C3554209 | OMIM | 1 | | 183 | 8740 | 164010 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHRNA7 CL E G H | 1139 | 199318 | | | | ORPHA | 1 | | 340 | 1960 | 118511 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHRNA7 CL E G H | 1139 | 199318 | | | | ORPHA | 1 | | 346 | 1960 | 118511 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHST14 CL E G H | 113189 | 601776 | Ehlers-Danlos syndrome, musculocontractural type | 601776 | C1866294 | OMIM | 1 | | 135 | 24464 | 608429 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHST14 CL E G H | 113189 | 601776 | Ehlers-Danlos syndrome, musculocontractural type | 601776 | C1866294 | OMIM | 1 | | 164 | 24464 | 608429 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CIB2 CL E G H | 10518 | 231169 | | | | ORPHA | 1 | | 137 | 24579 | 605564 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CIB2 CL E G H | 10518 | 231169 | | | | ORPHA | 1 | | 163 | 24579 | 605564 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CIC CL E G H | 23152 | 617600 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 | 617600 | C4539848 | OMIM | 1 | | 191 | 14214 | 612082 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CIC CL E G H | 23152 | 617600 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 | 617600 | C4539848 | OMIM | 1 | | 212 | 14214 | 612082 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CIT CL E G H | 11113 | 2512 | | | | ORPHA | 1 | | 319 | 1985 | 605629 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CIT CL E G H | 11113 | 2512 | | | | ORPHA | 1 | | 329 | 1985 | 605629 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CIT CL E G H | 11113 | 617090 | Microcephaly 17, primary, autosomal recessive | 617090 | C4310723 | OMIM | 1 | | 319 | 1985 | 605629 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CIT CL E G H | 11113 | 617090 | Microcephaly 17, primary, autosomal recessive | 617090 | C4310723 | OMIM | 1 | | 329 | 1985 | 605629 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CKAP2L CL E G H | 150468 | 3255 | Limb scalp and skull defects | | | ORPHA | 1 | | 78 | 26877 | 616174 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CKAP2L CL E G H | 150468 | 3255 | Limb scalp and skull defects | | | ORPHA | 1 | | 94 | 26877 | 616174 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLCN4 CL E G H | 1183 | 300114 | Mental retardation 49, X-linked | 300114 | C3887959 | OMIM | 1 | | 479 | 2022 | 302910 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLCN4 CL E G H | 1183 | 300114 | Mental retardation 49, X-linked | 300114 | C3887959 | OMIM | 1 | | 512 | 2022 | 302910 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLIC2 CL E G H | 1193 | 300886 | Mental retardation, X-linked, syndromic 32 | 300886 | C3550913 | OMIM | 1 | | 246 | 2063 | 300138 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLIC2 CL E G H | 1193 | 300886 | Mental retardation, X-linked, syndromic 32 | 300886 | C3550913 | OMIM | 1 | | 254 | 2063 | 300138 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLP1 CL E G H | 10978 | 411493 | | | | ORPHA | 1 | | 40 | 16999 | 608757 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLP1 CL E G H | 10978 | 411493 | | | | ORPHA | 1 | | 49 | 16999 | 608757 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 40 | 16999 | 608757 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 49 | 16999 | 608757 |
HP:0001263 | HP:0001263 | Global developmental delay | 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:0001263 | HP:0001263 | Global developmental delay | 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:0001263 | HP:0001263 | Global developmental delay | 0 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 1 | | 102 | 2092 | 118955 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 1 | | 202 | 2092 | 118955 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLTC CL E G H | 1213 | 617854 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 | 617854 | CN787270 | OMIM | 1 | | 102 | 2092 | 118955 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLTC CL E G H | 1213 | 617854 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 | 617854 | CN787270 | OMIM | 1 | | 202 | 2092 | 118955 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 1 | | 249 | 19701 | 300724 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 1 | | 256 | 19701 | 300724 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CNKSR2 CL E G H | 22866 | 301008 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE | 301008 | C4538788 | OMIM | 1 | | 249 | 19701 | 300724 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CNKSR2 CL E G H | 22866 | 301008 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE | 301008 | C4538788 | OMIM | 1 | | 256 | 19701 | 300724 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CNNM2 CL E G H | 54805 | 616418 | Hypomagnesemia, seizures, and mental retardation | 616418 | C4225333 | OMIM | 1 | | 176 | 103 | 607803 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CNNM2 CL E G H | 54805 | 616418 | Hypomagnesemia, seizures, and mental retardation | 616418 | C4225333 | OMIM | 1 | | 191 | 103 | 607803 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CNTNAP2 CL E G H | 26047 | 610042 | Pitt-Hopkins-like syndrome 1 | 610042 | C2750246 | OMIM | 1 | | 1339 | 13830 | 604569 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CNTNAP2 CL E G H | 26047 | 610042 | Pitt-Hopkins-like syndrome 1 | 610042 | C2750246 | OMIM | 1 | | 1505 | 13830 | 604569 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 27 | 25716 | 615623 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 31 | 25716 | 615623 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 107 | 29932 | 609855 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 150 | 29932 | 609855 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COG1 CL E G H | 9382 | 611209 | COG1 congenital disorder of glycosylation | 611209 | C1970016 | OMIM | 1 | | 181 | 6545 | 606973 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COG1 CL E G H | 9382 | 611209 | COG1 congenital disorder of glycosylation | 611209 | C1970016 | OMIM | 1 | | 248 | 6545 | 606973 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COG2 CL E G H | 22796 | 435934 | | | | ORPHA | 1 | | 147 | 6546 | 606974 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COG2 CL E G H | 22796 | 435934 | | | | ORPHA | 1 | | 159 | 6546 | 606974 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COG2 CL E G H | 22796 | 617395 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq | 617395 | C4479353 | OMIM | 1 | | 147 | 6546 | 606974 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COG2 CL E G H | 22796 | 617395 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq | 617395 | C4479353 | OMIM | 1 | | 159 | 6546 | 606974 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 221 | 18620 | 606976 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 247 | 18620 | 606976 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COG4 CL E G H | 25839 | 618150 | SAUL-WILSON SYNDROME | 618150 | | OMIM | 1 | | 221 | 18620 | 606976 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COG4 CL E G H | 25839 | 618150 | SAUL-WILSON SYNDROME | 618150 | | OMIM | 1 | | 247 | 18620 | 606976 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COG6 CL E G H | 57511 | 614576 | Congenital disorder of glycosylation type 2L | 614576 | C3553230 | OMIM | 1 | | 281 | 18621 | 606977 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COG6 CL E G H | 57511 | 614576 | Congenital disorder of glycosylation type 2L | 614576 | C3553230 | OMIM | 1 | | 297 | 18621 | 606977 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COL3A1 CL E G H | 1281 | 286 | Imaizumi Kuroki syndrome | | | ORPHA | 1 | | 1935 | 2201 | 120180 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COL3A1 CL E G H | 1281 | 286 | Imaizumi Kuroki syndrome | | | ORPHA | 1 | | 2083 | 2201 | 120180 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COL4A1 CL E G H | 1282 | 899 | | | | ORPHA | 1 | | 837 | 2202 | 120130 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COL4A1 CL E G H | 1282 | 899 | | | | ORPHA | 1 | | 1010 | 2202 | 120130 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COL4A2 CL E G H | 1284 | 614483 | Porencephaly 2 | 614483 | C3280970 | OMIM | 1 | | 764 | 2203 | 120090 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COL4A2 CL E G H | 1284 | 614483 | Porencephaly 2 | 614483 | C3280970 | OMIM | 1 | | 857 | 2203 | 120090 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COL4A3BP CL E G H | 10087 | 616351 | Mental retardation, autosomal dominant 34 | 616351 | C4225156 | OMIM | 1 | | | 2205 | 604677 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COL5A1 CL E G H | 1289 | 286 | Imaizumi Kuroki syndrome | | | ORPHA | 1 | | 2077 | 2209 | 120215 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COL5A1 CL E G H | 1289 | 286 | Imaizumi Kuroki syndrome | | | ORPHA | 1 | | 2246 | 2209 | 120215 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COLEC11 CL E G H | 78989 | 265050 | Carnevale syndrome | 265050 | C0796279 | OMIM | 1 | | 62 | 17213 | 612502 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COLEC11 CL E G H | 78989 | 265050 | Carnevale syndrome | 265050 | C0796279 | OMIM | 1 | | 65 | 17213 | 612502 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 364 | 2226 | 603033 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 418 | 2226 | 603033 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COMT CL E G H | 1312 | 567 | | | | ORPHA | 1 | | 579 | 2228 | 116790 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COMT CL E G H | 1312 | 567 | | | | ORPHA | 1 | | 587 | 2228 | 116790 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COPB2 CL E G H | 9276 | 2512 | | | | ORPHA | 1 | | 51 | 2232 | 606990 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COPB2 CL E G H | 9276 | 2512 | | | | ORPHA | 1 | | 63 | 2232 | 606990 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COPB2 CL E G H | 9276 | 617800 | MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE | 617800 | C4540488 | OMIM | 1 | | 51 | 2232 | 606990 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COPB2 CL E G H | 9276 | 617800 | MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE | 617800 | C4540488 | OMIM | 1 | | 63 | 2232 | 606990 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COQ7 CL E G H | 10229 | 616733 | Coenzyme Q10 deficiency, primary, 8 | 616733 | C4225226 | OMIM | 1 | | 67 | 2244 | 601683 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COQ7 CL E G H | 10229 | 616733 | Coenzyme Q10 deficiency, primary, 8 | 616733 | C4225226 | OMIM | 1 | | 107 | 2244 | 601683 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 127 | 25302 | 612837 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 164 | 25302 | 612837 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CORO1A CL E G H | 11151 | 615401 | Immunodeficiency 8 | 615401 | C3809383 | OMIM | 1 | | 260 | 2252 | 605000 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CORO1A CL E G H | 11151 | 615401 | Immunodeficiency 8 | 615401 | C3809383 | OMIM | 1 | | 301 | 2252 | 605000 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 247 | 2260 | 602125 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 263 | 2260 | 602125 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 247 | 2260 | 602125 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 263 | 2260 | 602125 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 24 | 28216 | 614478 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 28 | 28216 | 614478 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX15 CL E G H | 1355 | 255241 | | | | ORPHA | 1 | | 216 | 2263 | 603646 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX15 CL E G H | 1355 | 255241 | | | | ORPHA | 1 | | 233 | 2263 | 603646 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 216 | 2263 | 603646 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 233 | 2263 | 603646 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 139 | 26970 | 614698 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 155 | 26970 | 614698 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX4I2 CL E G H | 84701 | 612714 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis | 612714 | C2675184 | OMIM | 1 | | 46 | 16232 | 607976 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX4I2 CL E G H | 84701 | 612714 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis | 612714 | C2675184 | OMIM | 1 | | 51 | 16232 | 607976 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 44 | 2280 | 124089 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 52 | 2280 | 124089 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX7B CL E G H | 1349 | 300887 | Linear skin defects with multiple congenital anomalies 2 | 300887 | C3550921 | OMIM | 1 | | 171 | 2291 | 300885 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX7B CL E G H | 1349 | 300887 | Linear skin defects with multiple congenital anomalies 2 | 300887 | C3550921 | OMIM | 1 | | 175 | 2291 | 300885 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX8A CL E G H | 1351 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 18 | 2294 | 123870 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLANE1 CL E G H | 65250 | 2754 | | | | ORPHA | 1 | | 824 | 25801 | 614571 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLANE1 CL E G H | 65250 | 2754 | | | | ORPHA | 1 | | 1239 | 25801 | 614571 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 824 | 25801 | 614571 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 1239 | 25801 | 614571 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLANE1 CL E G H | 65250 | 614615 | Joubert syndrome 17 | 614615 | C3553264 | OMIM | 1 | | 824 | 25801 | 614571 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLANE1 CL E G H | 65250 | 614615 | Joubert syndrome 17 | 614615 | C3553264 | OMIM | 1 | | 1239 | 25801 | 614571 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLANE1 CL E G H | 65250 | 277170 | Orofaciodigital syndrome 6 | 277170 | C2745997 | OMIM | 1 | | 824 | 25801 | 614571 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLANE1 CL E G H | 65250 | 277170 | Orofaciodigital syndrome 6 | 277170 | C2745997 | OMIM | 1 | | 1239 | 25801 | 614571 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 151 | 2309 | 605032 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 163 | 2309 | 605032 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLX1 CL E G H | 10815 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 151 | 2309 | 605032 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLX1 CL E G H | 10815 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 163 | 2309 | 605032 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLX1 CL E G H | 10815 | 617976 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 | 617976 | CN244926 | OMIM | 1 | | 151 | 2309 | 605032 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLX1 CL E G H | 10815 | 617976 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 | 617976 | CN244926 | OMIM | 1 | | 163 | 2309 | 605032 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPS1 CL E G H | 1373 | 237300 | Congenital hyperammonemia, type I | 237300 | C0751753 | OMIM | 1 | | 814 | 2323 | 608307 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPS1 CL E G H | 1373 | 237300 | Congenital hyperammonemia, type I | 237300 | C0751753 | OMIM | 1 | | 910 | 2323 | 608307 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CRBN CL E G H | 51185 | 607417 | Mental retardation, autosomal recessive 2 | 607417 | C1843942 | OMIM | 1 | | 124 | 30185 | 609262 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CRBN CL E G H | 51185 | 607417 | Mental retardation, autosomal recessive 2 | 607417 | C1843942 | OMIM | 1 | | 132 | 30185 | 609262 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CRKL CL E G H | 1399 | 261330 | | | | ORPHA | 1 | | 398 | 2363 | 602007 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CRKL CL E G H | 1399 | 261330 | | | | ORPHA | 1 | | 406 | 2363 | 602007 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CSNK2A1 CL E G H | 1457 | 617062 | Okur-chung neurodevelopmental syndrome | 617062 | C4310739 | OMIM | 1 | | 177 | 2457 | 115440 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CSNK2A1 CL E G H | 1457 | 617062 | Okur-chung neurodevelopmental syndrome | 617062 | C4310739 | OMIM | 1 | | 182 | 2457 | 115440 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 476 | 26193 | 611654 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 687 | 26193 | 611654 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CSPP1 CL E G H | 79848 | 615636 | Joubert syndrome 21 | 615636 | C3810212 | OMIM | 1 | | 476 | 26193 | 611654 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CSPP1 CL E G H | 79848 | 615636 | Joubert syndrome 21 | 615636 | C3810212 | OMIM | 1 | | 687 | 26193 | 611654 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTBP1 CL E G H | 1487 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 174 | 2494 | 602618 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTBP1 CL E G H | 1487 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 187 | 2494 | 602618 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 1 | | 729 | 26169 | 613129 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 1 | | 918 | 26169 | 613129 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTCF CL E G H | 10664 | 615502 | Mental retardation, autosomal dominant 21 | 615502 | C3809686 | OMIM | 1 | | 190 | 13723 | 604167 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTCF CL E G H | 10664 | 615502 | Mental retardation, autosomal dominant 21 | 615502 | C3809686 | OMIM | 1 | | 201 | 13723 | 604167 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTDP1 CL E G H | 9150 | 48431 | | | | ORPHA | 1 | | 323 | 2498 | 604927 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTDP1 CL E G H | 9150 | 48431 | | | | ORPHA | 1 | | 348 | 2498 | 604927 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTDP1 CL E G H | 9150 | 604168 | Congenital Cataracts, Facial Dysmorphism, and Neuropathy | 604168 | C1858726 | OMIM | 1 | | 323 | 2498 | 604927 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTDP1 CL E G H | 9150 | 604168 | Congenital Cataracts, Facial Dysmorphism, and Neuropathy | 604168 | C1858726 | OMIM | 1 | | 348 | 2498 | 604927 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTNNA2 CL E G H | 1496 | 618174 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 | 618174 | | OMIM | 1 | | 90 | 2510 | 114025 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTNNA2 CL E G H | 1496 | 618174 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 | 618174 | | OMIM | 1 | | 93 | 2510 | 114025 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTNNB1 CL E G H | 1499 | 615075 | Mental retardation, autosomal dominant 19 | 615075 | C3554449 | OMIM | 1 | | 269 | 2514 | 116806 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTNNB1 CL E G H | 1499 | 615075 | Mental retardation, autosomal dominant 19 | 615075 | C3554449 | OMIM | 1 | | 364 | 2514 | 116806 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CUX2 CL E G H | 23316 | 618141 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 | 618141 | | OMIM | 1 | | 68 | 19347 | 610648 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CUX2 CL E G H | 23316 | 618141 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 | 618141 | | OMIM | 1 | | 75 | 19347 | 610648 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CWC27 CL E G H | 10283 | 250410 | Retinitis pigmentosa with or without skeletal anomalies | 250410 | C1855188 | OMIM | 1 | | 135 | 10664 | 617170 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CWC27 CL E G H | 10283 | 250410 | Retinitis pigmentosa with or without skeletal anomalies | 250410 | C1855188 | OMIM | 1 | | 196 | 10664 | 617170 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CWF19L1 CL E G H | 55280 | 453521 | | | | ORPHA | 1 | | 59 | 25613 | 616120 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CWF19L1 CL E G H | 55280 | 616127 | Spinocerebellar ataxia, autosomal recessive 17 | 616127 | C4015301 | OMIM | 1 | | 59 | 25613 | 616120 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CXorf56 CL E G H | 63932 | 301013 | MENTAL RETARDATION, X-LINKED 107 | 301013 | CN244560 | OMIM | 1 | | | 26239 | 301012 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CYB5R3 CL E G H | 1727 | 250800 | Deficiency of cytochrome-b5 reductase | 250800 | C0268193 | OMIM | 1 | | 134 | 2873 | 613213 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CYB5R3 CL E G H | 1727 | 250800 | Deficiency of cytochrome-b5 reductase | 250800 | C0268193 | OMIM | 1 | | 144 | 2873 | 613213 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 1 | | 84 | 13760 | 606323 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 1 | | 175 | 13760 | 606323 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CYP2U1 CL E G H | 113612 | 320411 | | | | ORPHA | 1 | | 125 | 20582 | 610670 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CYP2U1 CL E G H | 113612 | 320411 | | | | ORPHA | 1 | | 172 | 20582 | 610670 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | D2HGDH CL E G H | 728294 | 600721 | D-2-hydroxyglutaric aciduria 1 | 600721 | C3152055 | OMIM | 1 | | 331 | 28358 | 609186 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | D2HGDH CL E G H | 728294 | 600721 | D-2-hydroxyglutaric aciduria 1 | 600721 | C3152055 | OMIM | 1 | | 357 | 28358 | 609186 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DAG1 CL E G H | 1605 | 899 | | | | ORPHA | 1 | | 376 | 2666 | 128239 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DAG1 CL E G H | 1605 | 899 | | | | ORPHA | 1 | | 467 | 2666 | 128239 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DAG1 CL E G H | 1605 | 613818 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 | 613818 | C3151184 | OMIM | 1 | | 376 | 2666 | 128239 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DAG1 CL E G H | 1605 | 613818 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 | 613818 | C3151184 | OMIM | 1 | | 467 | 2666 | 128239 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DAG1 CL E G H | 1605 | 616538 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 616538 | C4225291 | OMIM | 1 | | 376 | 2666 | 128239 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DAG1 CL E G H | 1605 | 616538 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 616538 | C4225291 | OMIM | 1 | | 467 | 2666 | 128239 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DCC CL E G H | 1630 | 617542 | GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2 | 617542 | C4479640 | OMIM | 1 | | 160 | 2701 | 120470 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DCC CL E G H | 1630 | 617542 | GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2 | 617542 | C4479640 | OMIM | 1 | | 162 | 2701 | 120470 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DCPS CL E G H | 28960 | 616459 | AL-RAQAD SYNDROME | 616459 | C4085595 | OMIM | 1 | | 107 | 29812 | 610534 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DCPS CL E G H | 28960 | 616459 | AL-RAQAD SYNDROME | 616459 | C4085595 | OMIM | 1 | | 110 | 29812 | 610534 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DDC CL E G H | 1644 | 608643 | Deficiency of aromatic-L-amino-acid decarboxylase | 608643 | C1291564 | OMIM | 1 | | 220 | 2719 | 107930 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DDC CL E G H | 1644 | 608643 | Deficiency of aromatic-L-amino-acid decarboxylase | 608643 | C1291564 | OMIM | 1 | | 300 | 2719 | 107930 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DDHD2 CL E G H | 23259 | 320380 | | | | ORPHA | 1 | | 192 | 29106 | 615003 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DDHD2 CL E G H | 23259 | 320380 | | | | ORPHA | 1 | | 230 | 29106 | 615003 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DDHD2 CL E G H | 23259 | 615033 | Spastic paraplegia 54, autosomal recessive | 615033 | C3539495 | OMIM | 1 | | 192 | 29106 | 615003 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DDHD2 CL E G H | 23259 | 615033 | Spastic paraplegia 54, autosomal recessive | 615033 | C3539495 | OMIM | 1 | | 230 | 29106 | 615003 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DDOST CL E G H | 1650 | 614507 | Congenital disorder of glycosylation type Ir | 614507 | C3281084 | OMIM | 1 | | 154 | 2728 | 602202 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DDOST CL E G H | 1650 | 614507 | Congenital disorder of glycosylation type Ir | 614507 | C3281084 | OMIM | 1 | | 179 | 2728 | 602202 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DDR2 CL E G H | 4921 | 271665 | Spondylometaepiphyseal dysplasia short limb-hand type | 271665 | C1849011 | OMIM | 1 | | 190 | 2731 | 191311 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DDR2 CL E G H | 4921 | 271665 | Spondylometaepiphyseal dysplasia short limb-hand type | 271665 | C1849011 | OMIM | 1 | | 225 | 2731 | 191311 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DDX11 CL E G H | 1663 | 613398 | Warsaw breakage syndrome | 613398 | C3150658 | OMIM | 1 | | 123 | 2736 | 601150 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DDX11 CL E G H | 1663 | 613398 | Warsaw breakage syndrome | 613398 | C3150658 | OMIM | 1 | | 126 | 2736 | 601150 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 1 | | 179 | 14677 | 602635 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 1 | | 311 | 14677 | 602635 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 179 | 14677 | 602635 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 311 | 14677 | 602635 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DEAF1 CL E G H | 10522 | 615828 | Mental retardation, autosomal dominant 24 | 615828 | C4014414 | OMIM | 1 | | 179 | 14677 | 602635 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DEAF1 CL E G H | 10522 | 615828 | Mental retardation, autosomal dominant 24 | 615828 | C4014414 | OMIM | 1 | | 311 | 14677 | 602635 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DHCR7 CL E G H | 1717 | 818 | | | | ORPHA | 1 | | 511 | 2860 | 602858 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DHCR7 CL E G H | 1717 | 818 | | | | ORPHA | 1 | | 546 | 2860 | 602858 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 1 | | 199 | 20603 | 608172 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 1 | | 256 | 20603 | 608172 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DHFR CL E G H | 1719 | 613839 | Megaloblastic anemia due to dihydrofolate reductase deficiency | 613839 | C3151205 | OMIM | 1 | | 277 | 2861 | 126060 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DHFR CL E G H | 1719 | 613839 | Megaloblastic anemia due to dihydrofolate reductase deficiency | 613839 | C3151205 | OMIM | 1 | | 343 | 2861 | 126060 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DHTKD1 CL E G H | 55526 | 204750 | 2-aminoadipic 2-oxoadipic aciduria | 204750 | C1859817 | OMIM | 1 | | 218 | 23537 | 614984 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DHTKD1 CL E G H | 55526 | 204750 | 2-aminoadipic 2-oxoadipic aciduria | 204750 | C1859817 | OMIM | 1 | | 337 | 23537 | 614984 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DHX30 CL E G H | 22907 | 617804 | NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE | 617804 | C4540496 | OMIM | 1 | | 49 | 16716 | 616423 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DHX30 CL E G H | 22907 | 617804 | NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE | 617804 | C4540496 | OMIM | 1 | | 58 | 16716 | 616423 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DIS3L2 CL E G H | 129563 | 2849 | | | | ORPHA | 1 | | 1249 | 28648 | 614184 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DIS3L2 CL E G H | 129563 | 2849 | | | | ORPHA | 1 | | 1505 | 28648 | 614184 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DIS3L2 CL E G H | 129563 | 267000 | Renal hamartomas nephroblastomatosis and fetal gigantism | 267000 | C0796113 | OMIM | 1 | | 1249 | 28648 | 614184 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DIS3L2 CL E G H | 129563 | 267000 | Renal hamartomas nephroblastomatosis and fetal gigantism | 267000 | C0796113 | OMIM | 1 | | 1505 | 28648 | 614184 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DKC1 CL E G H | 1736 | 3322 | | | | ORPHA | 1 | | 396 | 2890 | 300126 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DKC1 CL E G H | 1736 | 3322 | | | | ORPHA | 1 | | 426 | 2890 | 300126 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 1 | | 396 | 2890 | 300126 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 1 | | 426 | 2890 | 300126 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DLAT CL E G H | 1737 | 245348 | Pyruvate dehydrogenase E2 deficiency | 245348 | C1855565 | OMIM | 1 | | 168 | 2896 | 608770 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DLAT CL E G H | 1737 | 245348 | Pyruvate dehydrogenase E2 deficiency | 245348 | C1855565 | OMIM | 1 | | 199 | 2896 | 608770 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 329 | 2898 | 238331 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 355 | 2898 | 238331 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DLG3 CL E G H | 1741 | 300850 | X-Linked mental retardation 90 | 300850 | C3275443 | OMIM | 1 | | 241 | 2902 | 300189 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DLG3 CL E G H | 1741 | 300850 | X-Linked mental retardation 90 | 300850 | C3275443 | OMIM | 1 | | 251 | 2902 | 300189 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DMD CL E G H | 1756 | 98896 | | | | ORPHA | 1 | | 5601 | 2928 | 300377 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DMD CL E G H | 1756 | 98896 | | | | ORPHA | 1 | | 6395 | 2928 | 300377 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DNA2 CL E G H | 1763 | 615807 | Seckel syndrome 8 | 615807 | C3891452 | OMIM | 1 | | 223 | 2939 | 601810 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DNA2 CL E G H | 1763 | 615807 | Seckel syndrome 8 | 615807 | C3891452 | OMIM | 1 | | 290 | 2939 | 601810 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DNAJC21 CL E G H | 134218 | 811 | Balo disease | | | ORPHA | 1 | | 91 | 27030 | 617048 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DNAJC21 CL E G H | 134218 | 811 | Balo disease | | | ORPHA | 1 | | 187 | 27030 | 617048 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DNAJC21 CL E G H | 134218 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 91 | 27030 | 617048 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DNAJC21 CL E G H | 134218 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 187 | 27030 | 617048 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 1 | | 459 | 2972 | 602377 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 1 | | 506 | 2972 | 602377 |
HP:0001263 | HP:0001263 | Global developmental delay | 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:0001263 | HP:0001263 | Global developmental delay | 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:0001263 | HP:0001263 | Global developmental delay | 0 | DNMT3B CL E G H | 1789 | 2268 | | | | ORPHA | 1 | | 339 | 2979 | 602900 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DNMT3B CL E G H | 1789 | 2268 | | | | ORPHA | 1 | | 402 | 2979 | 602900 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DOCK3 CL E G H | 1795 | 618292 | 618292 | 618292 | | OMIM | 1 | | 43 | 2989 | 603123 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DOCK3 CL E G H | 1795 | 618292 | 618292 | 618292 | | OMIM | 1 | | 46 | 2989 | 603123 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DOCK6 CL E G H | 57572 | 614219 |