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 | | 187 | 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 | | 605 | 23 | 137150 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ABCB7 CL E G H | 22 | 2802 | | | | ORPHA | 1 | | 247 | 48 | 300135 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ABCC8 CL E G H | 6833 | 99885 | | | | ORPHA | 1 | | 1569 | 59 | 600509 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ABCC8 CL E G H | 6833 | 99886 | | | | ORPHA | 1 | | 1569 | 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 | | 1569 | 59 | 600509 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 194 | 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 | | 635 | 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 | | 328 | 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 | | 301 | 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 | | 35 | 94 | 100678 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 1 | | 834 | 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 | | 834 | 25070 | 609377 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 517 | 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 | | 82 | 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 | | 697 | 27288 | 614245 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACTA1 CL E G H | 58 | 97240 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 406 | 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 | | 406 | 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 | | 406 | 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 | | 412 | 144 | 102560 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACY1 CL E G H | 95 | 609924 | Aminoacylase 1 deficiency | 609924 | C1835922 | OMIM | 1 | | 94 | 177 | 104620 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADAMTSL2 CL E G H | 9719 | 231050 | Geleophysic dysplasia 1 | 231050 | C3278147 | OMIM | 1 | | 247 | 14631 | 612277 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 818 | 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 | | 818 | 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 | | 117 | 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 | | 90 | 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 | | 356 | 15766 | 611386 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 639 | 291 | 608222 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AFF4 CL E G H | 27125 | 616368 | Chops syndrome | 616368 | C4085597 | OMIM | 1 | | 215 | 17869 | 604417 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AGTPBP1 CL E G H | 23287 | 618276 | 618276 | 618276 | | OMIM | 1 | | 66 | 17258 | 606830 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 145 | 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 | | 145 | 343 | 180960 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AHDC1 CL E G H | 27245 | 615829 | Xia-Gibbs syndrome | 615829 | C4014419 | OMIM | 1 | | 455 | 25230 | 615790 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 922 | 21575 | 608894 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 922 | 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 | | 487 | 8768 | 300169 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AIMP1 CL E G H | 9255 | 260600 | Leukodystrophy, hypomyelinating 3 | 260600 | C1850053 | OMIM | 1 | | 71 | 10648 | 603605 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AKT1 CL E G H | 207 | 201 | | | | ORPHA | 1 | | 634 | 391 | 164730 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH18A1 CL E G H | 5832 | 35664 | | | | ORPHA | 1 | | 437 | 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 | | 437 | 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 | | 437 | 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 | | 437 | 9722 | 138250 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH5A1 CL E G H | 7915 | 22 | AFib amyloidosis | | CN244920 | ORPHA | 1 | | 597 | 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 | | 597 | 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 | | 157 | 7179 | 603178 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH7A1 CL E G H | 501 | 3006 | | | | ORPHA | 1 | | 761 | 877 | 107323 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH7A1 CL E G H | 501 | 266100 | Pyridoxine-dependent epilepsy | 266100 | C1849508 | OMIM | 1 | | 761 | 877 | 107323 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG1 CL E G H | 56052 | 79327 | | | | ORPHA | 1 | | 495 | 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 | | 495 | 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 | | 196 | 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 | | 464 | 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 | | 803 | 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 | | 262 | 23159 | 607905 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG3 CL E G H | 10195 | 79321 | | | | ORPHA | 1 | | 179 | 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 | | 179 | 23056 | 608750 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG6 CL E G H | 29929 | 79320 | | | | ORPHA | 1 | | 505 | 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 | | 505 | 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 | | 236 | 15672 | 606941 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 4321 | 428 | 606844 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALX4 CL E G H | 60529 | 52022 | | | | ORPHA | 1 | | 251 | 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 | | 276 | 469 | 102771 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ANK1 CL E G H | 286 | 251066 | | | | ORPHA | 1 | | 642 | 492 | 612641 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ANKLE2 CL E G H | 23141 | 2512 | | | | ORPHA | 1 | | 191 | 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 | | 191 | 29101 | 616062 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ANKRD11 CL E G H | 29123 | 2332 | | | | ORPHA | 1 | | 1515 | 21316 | 611192 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ANKRD11 CL E G H | 29123 | 148050 | KBG syndrome | 148050 | C0220687 | OMIM | 1 | | 1515 | 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 | | 61 | 559 | 603531 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP1S2 CL E G H | 8905 | 85329 | | | | ORPHA | 1 | | 218 | 560 | 300629 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP1S2 CL E G H | 8905 | 85335 | | | | ORPHA | 1 | | 218 | 560 | 300629 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 218 | 560 | 300629 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 1 | | 437 | 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 | | 437 | 567 | 602166 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4B1 CL E G H | 10717 | 280763 | | | | ORPHA | 1 | | 300 | 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 | | 300 | 572 | 607245 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4E1 CL E G H | 23431 | 280763 | | | | ORPHA | 1 | | 377 | 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 | | 377 | 573 | 607244 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4M1 CL E G H | 9179 | 280763 | | | | ORPHA | 1 | | 311 | 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 | | 311 | 574 | 602296 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4S1 CL E G H | 11154 | 280763 | | | | ORPHA | 1 | | 122 | 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 | | 122 | 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 | | 810 | 22197 | 613653 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | APC2 CL E G H | 10297 | 821 | | | | ORPHA | 1 | | 235 | 24036 | 612034 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 152 | 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 | | 152 | 20492 | 616003 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | APP CL E G H | 351 | 324703 | | | | ORPHA | 1 | | 404 | 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 | | 483 | 15853 | 605371 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARG1 CL E G H | 383 | 90 | | | | ORPHA | 1 | | 357 | 663 | 608313 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARG1 CL E G H | 383 | 207800 | Arginase deficiency | 207800 | C0268548 | OMIM | 1 | | 357 | 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 | | 243 | 29216 | 610911 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARID1A CL E G H | 8289 | 1465 | | | | ORPHA | 1 | | 545 | 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 | | 545 | 11110 | 603024 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARID1B CL E G H | 57492 | 1465 | | | | ORPHA | 1 | | 1206 | 18040 | 614556 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARID1B CL E G H | 57492 | 251056 | | | | ORPHA | 1 | | 1206 | 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 | | 1206 | 18040 | 614556 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARID2 CL E G H | 196528 | 1465 | | | | ORPHA | 1 | | 227 | 18037 | 609539 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 264 | 25419 | 608922 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARL13B CL E G H | 200894 | 612291 | Joubert syndrome 8 | 612291 | C2676771 | OMIM | 1 | | 264 | 25419 | 608922 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 106 | 694 | 604695 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARL3 CL E G H | 403 | 618161 | JOUBERT SYNDROME 35 | 618161 | | OMIM | 1 | | 106 | 694 | 604695 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 468 | 20730 | 617612 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 468 | 20730 | 617612 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARNT2 CL E G H | 9915 | 615926 | Webb-Dattani syndrome | 615926 | C4014708 | OMIM | 1 | | 111 | 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 | | 71 | 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 | | 71 | 29561 | 611647 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 1 | | 541 | 728 | 602269 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARX CL E G H | 170302 | 452 | | | | ORPHA | 1 | | 679 | 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 | | 679 | 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 | | 242 | 19088 | 607999 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASL CL E G H | 435 | 207900 | Argininosuccinate lyase deficiency | 207900 | C0268547 | OMIM | 1 | | 554 | 746 | 608310 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 319 | 756 | 608034 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASPM CL E G H | 259266 | 2512 | | | | ORPHA | 1 | | 1206 | 19048 | 605481 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASS1 CL E G H | 445 | 215700 | Citrullinemia type I | 215700 | C0175683 | OMIM | 1 | | 571 | 758 | 603470 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASXL1 CL E G H | 171023 | 97297 | | | | ORPHA | 1 | | 503 | 18318 | 612990 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 503 | 18318 | 612990 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASXL2 CL E G H | 55252 | 617190 | Shashi-Pena syndrome | 617190 | C4310672 | OMIM | 1 | | 232 | 23805 | 612991 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 116 | 25903 | 614452 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATAD3A CL E G H | 55210 | 496790 | | | | ORPHA | 1 | | 292 | 25567 | 612316 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 292 | 25567 | 612316 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATCAY CL E G H | 85300 | 94122 | | | | ORPHA | 1 | | 178 | 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 | | 178 | 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 | | 34 | 589 | 604261 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP1A1 CL E G H | 476 | 618314 | 618314 | 618314 | | OMIM | 1 | | 272 | 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 | | 790 | 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 | | 62 | 837 | 603150 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V0A2 CL E G H | 23545 | 2834 | | | | ORPHA | 1 | | 484 | 18481 | 611716 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V0A2 CL E G H | 23545 | 357074 | | | | ORPHA | 1 | | 484 | 18481 | 611716 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V1A CL E G H | 523 | 357074 | | | | ORPHA | 1 | | 123 | 851 | 607027 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 1 | | 123 | 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 | | 123 | 851 | 607027 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V1E1 CL E G H | 529 | 357074 | | | | ORPHA | 1 | | 172 | 857 | 108746 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1283 | 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 | | 228 | 18802 | 608918 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1544 | 886 | 300032 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 42 | 10560 | 607640 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 1 | | 197 | 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 | | 511 | 14262 | 607270 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B3GALNT2 CL E G H | 148789 | 899 | | | | ORPHA | 1 | | 462 | 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 | | 462 | 28596 | 610194 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B3GALT6 CL E G H | 126792 | 75496 | | | | ORPHA | 1 | | 366 | 17978 | 615291 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B3GLCT CL E G H | 145173 | 709 | | | | ORPHA | 1 | | 266 | 20207 | 610308 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 266 | 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 | | 158 | 924 | 137060 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B4GALT7 CL E G H | 11285 | 75496 | | | | ORPHA | 1 | | 286 | 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 | | 286 | 930 | 604327 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B4GAT1 CL E G H | 11041 | 899 | | | | ORPHA | 1 | | 166 | 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 | | 166 | 15685 | 605517 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 253 | 24123 | 614144 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B9D1 CL E G H | 27077 | 617120 | Joubert syndrome 27 | 617120 | C4310706 | OMIM | 1 | | 253 | 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 | | 694 | 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 | | 308 | 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 | | 154 | 13221 | 606557 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BCL11B CL E G H | 64919 | 617237 | Immunodeficiency 49 | 617237 | C4310656 | OMIM | 1 | | 330 | 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 | | 330 | 13222 | 606558 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BCR CL E G H | 613 | 261330 | | | | ORPHA | 1 | | 215 | 1014 | 151410 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 334 | 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 | | 334 | 1020 | 603647 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BMP2 CL E G H | 650 | 261295 | | | | ORPHA | 1 | | 128 | 1069 | 112261 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BMP4 CL E G H | 652 | 139471 | | | | ORPHA | 1 | | 143 | 1071 | 112262 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BMPER CL E G H | 168667 | 608022 | Diaphanospondylodysostosis | 608022 | C1842691 | OMIM | 1 | | 244 | 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 | | 76 | 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 | | 191 | 3581 | 601819 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 948 | 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 | | 960 | 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 | | 960 | 21701 | 614506 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRCA1 CL E G H | 672 | 84 | | | | ORPHA | 1 | | 13451 | 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 | | 13451 | 1100 | 113705 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRCA2 CL E G H | 675 | 84 | | | | ORPHA | 1 | | 16438 | 1101 | 600185 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRF1 CL E G H | 2972 | 616202 | Cerebellofaciodental syndrome | 616202 | C4015495 | OMIM | 1 | | 176 | 11551 | 604902 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRIP1 CL E G H | 83990 | 84 | | | | ORPHA | 1 | | 4520 | 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 | | 4520 | 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 | | 209 | 14255 | 602410 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BTD CL E G H | 686 | 79241 | | | | ORPHA | 1 | | 456 | 1122 | 609019 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BTD CL E G H | 686 | 253260 | Biotinidase deficiency | 253260 | C0220754 | OMIM | 1 | | 456 | 1122 | 609019 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BUB1 CL E G H | 699 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 789 | 1148 | 602452 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BUB1B CL E G H | 701 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 1250 | 1149 | 602860 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BUB3 CL E G H | 9184 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 299 | 1151 | 603719 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | C12orf57 CL E G H | 113246 | 1777 | | | | ORPHA | 1 | | 248 | 29521 | 615140 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | C12orf57 CL E G H | 113246 | 218340 | Temtamy syndrome | 218340 | C1857512 | OMIM | 1 | | 248 | 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 | | 142 | 1373 | 611492 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 1 | | 2689 | 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 | | 2689 | 1388 | 601011 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CACNA1C CL E G H | 775 | 601005 | Timothy syndrome | 601005 | C1832916 | OMIM | 1 | | 2235 | 1390 | 114205 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CACNA1D CL E G H | 776 | 369929 | | | | ORPHA | 1 | | 1031 | 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 | | 1031 | 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 | | 445 | 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 | | 879 | 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 | | 77 | 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 | | 77 | 1460 | 114078 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 34 | 26276 | 609559 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CAMTA1 CL E G H | 23261 | 314647 | | | | ORPHA | 1 | | 334 | 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 | | 334 | 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 | | 697 | 25695 | 612800 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CASK CL E G H | 8573 | 300422 | FG syndrome 4 | 300422 | CN033933 | OMIM | 1 | | 706 | 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 | | 706 | 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 | | 1056 | 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 | | 967 | 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 | | 217 | 30237 | 610055 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 1 | | 1176 | 29253 | 612013 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1176 | 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 | | 61 | 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 | | 252 | 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 | | 252 | 28909 | 300859 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CCDC88A CL E G H | 55704 | 617507 | PEHO-like syndrome | 617507 | C1850056 | OMIM | 1 | | 528 | 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 | | 120 | 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 | | 38 | 1596 | 603544 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CD96 CL E G H | 10225 | 211750 | C syndrome | 211750 | C0796095 | OMIM | 1 | | 72 | 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 | | 567 | 1739 | 603465 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDCA7 CL E G H | 83879 | 2268 | | | | ORPHA | 1 | | 145 | 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 | | 145 | 14628 | 609937 |
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 | | 3604 | 13733 | 605516 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDK10 CL E G H | 8558 | 617694 | AL KAISSI SYNDROME | 617694 | C4540156 | OMIM | 1 | | 100 | 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 | | 252 | 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 | | 88 | 1774 | 123831 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDK5RAP2 CL E G H | 55755 | 2512 | | | | ORPHA | 1 | | 477 | 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 | | 477 | 18672 | 608201 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDK6 CL E G H | 1021 | 2512 | | | | ORPHA | 1 | | 49 | 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 | | 1527 | 11411 | 300203 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDON CL E G H | 50937 | 614226 | Holoprosencephaly 11 | 614226 | C3280215 | OMIM | 1 | | 545 | 17104 | 608707 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CENPJ CL E G H | 55835 | 2512 | | | | ORPHA | 1 | | 438 | 17272 | 609279 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 411 | 24866 | 616690 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 1 | | 305 | 26690 | 613446 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 305 | 26690 | 613446 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP120 CL E G H | 153241 | 617761 | JOUBERT SYNDROME 31 | 617761 | C4540355 | OMIM | 1 | | 305 | 26690 | 613446 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP135 CL E G H | 9662 | 2512 | | | | ORPHA | 1 | | 277 | 29086 | 611423 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP152 CL E G H | 22995 | 2512 | | | | ORPHA | 1 | | 450 | 29298 | 613529 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP164 CL E G H | 22897 | 3156 | | | | ORPHA | 1 | | 843 | 29182 | 614848 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 1 | | 2251 | 29021 | 610142 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP290 CL E G H | 80184 | 3156 | | | | ORPHA | 1 | | 2251 | 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 | | 2251 | 29021 | 610142 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 1 | | 375 | 12370 | 610523 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 375 | 12370 | 610523 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP41 CL E G H | 95681 | 614464 | Joubert syndrome 15 | 614464 | C3280897 | OMIM | 1 | | 375 | 12370 | 610523 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP57 CL E G H | 9702 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 311 | 30794 | 607951 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP63 CL E G H | 80254 | 2512 | | | | ORPHA | 1 | | 219 | 25815 | 614724 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP63 CL E G H | 80254 | 614728 | Seckel syndrome 6 | 614728 | C3553582 | OMIM | 1 | | 219 | 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 | | 216 | 20311 | 616327 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHD1 CL E G H | 1105 | 529965 | | | | ORPHA | 1 | | 106 | 1915 | 602118 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHD1 CL E G H | 1105 | 617682 | PILAROWSKI-BJORNSSON SYNDROME | 617682 | C4540131 | OMIM | 1 | | 106 | 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 | | 1526 | 1917 | 602119 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHD3 CL E G H | 1107 | 618205 | SNIJDERS BLOK-CAMPEAU SYNDROME | 618205 | | OMIM | 1 | | 210 | 1918 | 602120 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHD7 CL E G H | 55636 | 138 | | | | ORPHA | 1 | | 2318 | 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 | | 188 | 8740 | 164010 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHRNA7 CL E G H | 1139 | 199318 | | | | ORPHA | 1 | | 347 | 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 | | 211 | 24464 | 608429 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CIB2 CL E G H | 10518 | 231169 | | | | ORPHA | 1 | | 182 | 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 | | 258 | 14214 | 612082 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CIT CL E G H | 11113 | 2512 | | | | ORPHA | 1 | | 343 | 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 | | 343 | 1985 | 605629 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CKAP2L CL E G H | 150468 | 3255 | Limb scalp and skull defects | | | ORPHA | 1 | | 110 | 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 | | 591 | 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 | | 259 | 2063 | 300138 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLP1 CL E G H | 10978 | 411493 | | | | ORPHA | 1 | | 61 | 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 | | 61 | 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 | | 453 | 30664 | 616254 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 1 | | 390 | 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 | | 390 | 2092 | 118955 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 1 | | 264 | 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 | | 264 | 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 | | 218 | 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 | | 1634 | 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 | | 32 | 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 | | 175 | 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 | | 279 | 6545 | 606973 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COG2 CL E G H | 22796 | 435934 | | | | ORPHA | 1 | | 177 | 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 | | 177 | 6546 | 606974 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 262 | 18620 | 606976 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COG4 CL E G H | 25839 | 618150 | SAUL-WILSON SYNDROME | 618150 | | OMIM | 1 | | 262 | 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 | | 315 | 18621 | 606977 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COL3A1 CL E G H | 1281 | 286 | Imaizumi Kuroki syndrome | | | ORPHA | 1 | | 2274 | 2201 | 120180 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COL4A1 CL E G H | 1282 | 899 | | | | ORPHA | 1 | | 1258 | 2202 | 120130 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COL4A2 CL E G H | 1284 | 614483 | Porencephaly 2 | 614483 | C3280970 | OMIM | 1 | | 992 | 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 | | 2531 | 2209 | 120215 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COLEC11 CL E G H | 78989 | 265050 | Carnevale syndrome | 265050 | C0796279 | OMIM | 1 | | 70 | 17213 | 612502 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 465 | 2226 | 603033 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COMT CL E G H | 1312 | 567 | | | | ORPHA | 1 | | 586 | 2228 | 116790 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COPB2 CL E G H | 9276 | 2512 | | | | ORPHA | 1 | | 58 | 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 | | 58 | 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 | | 122 | 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 | | 183 | 25302 | 612837 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CORO1A CL E G H | 11151 | 615401 | Immunodeficiency 8 | 615401 | C3809383 | OMIM | 1 | | 340 | 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 | | 293 | 2260 | 602125 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 293 | 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 | | 28 | 28216 | 614478 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX15 CL E G H | 1355 | 255241 | | | | ORPHA | 1 | | 251 | 2263 | 603646 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 251 | 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 | | 162 | 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 | | 55 | 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 | | 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 | | 173 | 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 | | 23 | 2294 | 123870 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLANE1 CL E G H | 65250 | 2754 | | | | ORPHA | 1 | | 1426 | 25801 | 614571 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 1426 | 25801 | 614571 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLANE1 CL E G H | 65250 | 614615 | Joubert syndrome 17 | 614615 | C3553264 | OMIM | 1 | | 1426 | 25801 | 614571 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLANE1 CL E G H | 65250 | 277170 | Orofaciodigital syndrome 6 | 277170 | C2745997 | OMIM | 1 | | 1426 | 25801 | 614571 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 167 | 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 | | 167 | 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 | | 167 | 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 | | 1152 | 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 | | 142 | 30185 | 609262 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CRKL CL E G H | 1399 | 261330 | | | | ORPHA | 1 | | 414 | 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 | | 196 | 2457 | 115440 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 793 | 26193 | 611654 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CSPP1 CL E G H | 79848 | 615636 | Joubert syndrome 21 | 615636 | C3810212 | OMIM | 1 | | 793 | 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 | | 217 | 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 | | 1044 | 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 | | 235 | 13723 | 604167 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTDP1 CL E G H | 9150 | 48431 | | | | ORPHA | 1 | | 383 | 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 | | 383 | 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 | | 98 | 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 | | 468 | 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 | | 101 | 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 | | 244 | 10664 | 617170 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CWF19L1 CL E G H | 55280 | 453521 | | | | ORPHA | 1 | | 66 | 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 | | 66 | 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 | | 151 | 2873 | 613213 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 1 | | 416 | 13760 | 606323 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CYP2U1 CL E G H | 113612 | 320411 | | | | ORPHA | 1 | | 195 | 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 | | 394 | 28358 | 609186 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DAG1 CL E G H | 1605 | 899 | | | | ORPHA | 1 | | 496 | 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 | | 496 | 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 | | 496 | 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 | | 175 | 2701 | 120470 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DCPS CL E G H | 28960 | 616459 | AL-RAQAD SYNDROME | 616459 | C4085595 | OMIM | 1 | | 106 | 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 | | 365 | 2719 | 107930 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DDHD2 CL E G H | 23259 | 320380 | | | | ORPHA | 1 | | 249 | 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 | | 249 | 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 | | 187 | 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 | | 266 | 2731 | 191311 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DDX11 CL E G H | 1663 | 613398 | Warsaw breakage syndrome | 613398 | C3150658 | OMIM | 1 | | 138 | 2736 | 601150 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 1 | | 452 | 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 | | 452 | 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 | | 452 | 14677 | 602635 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DHCR7 CL E G H | 1717 | 818 | | | | ORPHA | 1 | | 648 | 2860 | 602858 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 1 | | 318 | 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 | | 493 | 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 | | 428 | 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 | | 74 | 16716 | 616423 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DIS3L2 CL E G H | 129563 | 2849 | | | | ORPHA | 1 | | 1714 | 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 | | 1714 | 28648 | 614184 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DKC1 CL E G H | 1736 | 3322 | | | | ORPHA | 1 | | 477 | 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 | | 477 | 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 | | 237 | 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 | | 422 | 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 | | 267 | 2902 | 300189 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DMD CL E G H | 1756 | 98896 | | | | ORPHA | 1 | | 7370 | 2928 | 300377 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DNA2 CL E G H | 1763 | 615807 | Seckel syndrome 8 | 615807 | C3891452 | OMIM | 1 | | 331 | 2939 | 601810 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DNAJC21 CL E G H | 134218 | 811 | Balo disease | | | ORPHA | 1 | | 236 | 27030 | 617048 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DNAJC21 CL E G H | 134218 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 236 | 27030 | 617048 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 1 | | 622 | 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 | | 445 | 2973 | 603850 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DNMT3B CL E G H | 1789 | 2268 | | | | ORPHA | 1 | | 463 | 2979 | 602900 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DOCK3 CL E G H | 1795 | 618292 | 618292 | 618292 | | OMIM | 1 | | 50 | 2989 | 603123 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DOCK6 CL E G H | 57572 | 614219 | Adams-Oliver syndrome 2 | 614219 | C3280182 | OMIM | 1 | | 561 | 19189 | 614194 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DOCK7 CL E G H | 85440 | 615859 | Epileptic encephalopathy, early infantile, 23 | 615859 | C4014492 | OMIM | 1 | | 1184 | 19190 | 615730 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DPAGT1 CL E G H | 1798 | 86309 | | | | ORPHA | 1 | | 258 | 2995 | 191350 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DPAGT1 CL E G H | 1798 | 608093 | Congenital disorder of glycosylation type 1J | 608093 | C2931004 | OMIM | 1 | | 258 | 2995 | 191350 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DPF2 CL E G H | 5977 | 1465 | | | | ORPHA | 1 | | 73 | 9964 | 601671 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DPF2 CL E G H | 5977 | 618027 | COFFIN-SIRIS SYNDROME 7 | 618027 | CN248780 | OMIM | 1 | | 73 | 9964 | 601671 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DPH1 CL E G H | 1801 | 616901 | Developmental delay with short stature, dysmorphic features, and sparse hair | 616901 | C4310801 | OMIM | 1 | | 106 | 3003 | 603527 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DPM2 CL E G H | 8818 | 615042 | Congenital disorder of glycosylation type 1u | 615042 | C3554385 | OMIM | 1 | | 138 | 3006 | 603564 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DPYD CL E G H | 1806 | 293948 | | | | ORPHA | 1 | | 379 | 3012 | 612779 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DUOX2 CL E G H | 50506 | 95716 | | | | ORPHA | 1 | | 832 | 13273 | 606759 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DUOXA2 CL E G H | 405753 | 95716 | | | | ORPHA | 1 | | 73 | 32698 | 612772 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DVL1 CL E G H | 1855 | 180700 | Robinow syndrome | 180700 | C0265205 | OMIM | 1 | | 492 | 3084 | 601365 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DVL3 CL E G H | 1857 | 180700 | Robinow syndrome | 180700 | C0265205 | OMIM | 1 | | 189 | 3087 | 601368 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DYM CL E G H | 54808 | 239 | | | | ORPHA | 1 | | 260 | 21317 | 607461 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EARS2 CL E G H | 124454 | 614924 | Combined oxidative phosphorylation deficiency 12 | 614924 | C3554079 | OMIM | 1 | | 253 | 29419 | 612799 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EBF3 CL E G H | 253738 | 617330 | Hypotonia, ataxia, and delayed development syndrome | 617330 | C4310618 | OMIM | 1 | | 229 | 19087 | 607407 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EBP CL E G H | 10682 | 300960 | MEND syndrome | 300960 | C4085243 | OMIM | 1 | | 291 | 3133 | 300205 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ECHS1 CL E G H | 1892 | 255241 | | | | ORPHA | 1 | | 365 | 3151 | 602292 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ECHS1 CL E G H | 1892 | 616277 | Mitochondrial short-chain enoyl-coa hydratase 1 deficiency | 616277 | C4225391 | OMIM | 1 | | 365 | 3151 | 602292 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EDNRB CL E G H | 1910 | 277580 | Waardenburg syndrome type 4A | 277580 | C1848519 | OMIM | 1 | | 274 | 3180 | 131244 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EED CL E G H | 8726 | 3447 | | | | ORPHA | 1 | | 97 | 3188 | 605984 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EED CL E G H | 8726 | 617561 | Cohen-Gibson syndrome | 617561 | C4479654 | OMIM | 1 | | 97 | 3188 | 605984 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 1 | | 493 | 3192 | 602959 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EEF1A2 CL E G H | 1917 | 616409 | Epileptic encephalopathy, early infantile, 33 | 616409 | C4225337 | OMIM | 1 | | 493 | 3192 | 602959 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EEF1A2 CL E G H | 1917 | 616393 | Mental retardation, autosomal dominant 38 | 616393 | C4225343 | OMIM | 1 | | 493 | 3192 | 602959 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EFL1 CL E G H | 79631 | 811 | Balo disease | | | ORPHA | 1 | | 251 | 25789 | 617538 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EFNB1 CL E G H | 1947 | 304110 | Craniofrontonasal dysplasia | 304110 | C0220767 | OMIM | 1 | | 214 | 3226 | 300035 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EFTUD2 CL E G H | 9343 | 610536 | Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | 610536 | C1864652 | OMIM | 1 | | 363 | 30858 | 603892 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EHMT1 CL E G H | 79813 | 96147 | | | | ORPHA | 1 | | 1570 | 24650 | 607001 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EIF2AK3 CL E G H | 9451 | 226980 | Wolcott-Rallison dysplasia | 226980 | C0432217 | OMIM | 1 | | 359 | 3255 | 604032 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EIF4A3 CL E G H | 9775 | 268305 | Richieri Costa Pereira syndrome | 268305 | C1849348 | OMIM | 1 | | 38 | 18683 | 608546 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ELAC2 CL E G H | 60528 | 615440 | Combined oxidative phosphorylation deficiency 17 | 615440 | C3809526 | OMIM | 1 | | 658 | 14198 | 605367 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ELOVL4 CL E G H | 6785 | 614457 | Ichthyosis, spastic quadriplegia, and mental retardation | 614457 | C3280856 | OMIM | 1 | | 242 | 14415 | 605512 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EML1 CL E G H | 2009 | 600348 | Band heterotopia | 600348 | C1838239 | OMIM | 1 | | 114 | 3330 | 602033 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EP300 CL E G H | 2033 | 613684 | Rubinstein-Taybi syndrome 2 | 613684 | C3150941 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EPG5 CL E G H | 57724 | 1493 | Congenital mesoblastic nephroma | | | ORPHA | 1 | | 1213 | 29331 | 615068 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EPG5 CL E G H | 57724 | 242840 | Vici syndrome | 242840 | C1855772 | OMIM | 1 | | 1213 | 29331 | 615068 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EPRS CL E G H | 2058 | 617951 | LEUKODYSTROPHY, HYPOMYELINATING, 15 | 617951 | CN244566 | OMIM | 1 | | | 3418 | 138295 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERCC1 CL E G H | 2067 | 610758 | Cerebrooculofacioskeletal syndrome 4 | 610758 | C1853100 | OMIM | 1 | | 113 | 3433 | 126380 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 1196 | 3434 | 126340 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERCC2 CL E G H | 2068 | 610756 | Cerebrooculofacioskeletal syndrome 2 | 610756 | C1853102 | OMIM | 1 | | 1196 | 3434 | 126340 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 368 | 3435 | 133510 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERCC4 CL E G H | 2072 | 84 | | | | ORPHA | 1 | | 602 | 3436 | 133520 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 602 | 3436 | 133520 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 425 | 3437 | 133530 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERCC5 CL E G H | 2073 | 616570 | Cerebrooculofacioskeletal syndrome 3 | 616570 | C1851443 | OMIM | 1 | | 425 | 3437 | 133530 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERMARD CL E G H | 55780 | 75857 | | | | ORPHA | 1 | | 238 | 21056 | 615532 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERMARD CL E G H | 55780 | 615544 | Periventricular nodular heterotopia 6 | 615544 | C3809872 | OMIM | 1 | | 238 | 21056 | 615532 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ESCO2 CL E G H | 157570 | 3103 | | | | ORPHA | 1 | | 435 | 27230 | 609353 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ESCO2 CL E G H | 157570 | 269000 | Roberts-SC phocomelia syndrome | 269000 | C0392475 | OMIM | 1 | | 435 | 27230 | 609353 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 279 | 23287 | 608451 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EXOSC3 CL E G H | 51010 | 614678 | Pontocerebellar hypoplasia, type 1b | 614678 | C3553449 | OMIM | 1 | | 190 | 17944 | 606489 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EXOSC8 CL E G H | 11340 | 616081 | Pontocerebellar hypoplasia, type 1c | 616081 | C4015160 | OMIM | 1 | | 85 | 17035 | 606019 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EXOSC9 CL E G H | 5393 | 618065 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1D | 618065 | CN252648 | OMIM | 1 | | 156 | 9137 | 606180 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EXT2 CL E G H | 2132 | 52022 | | | | ORPHA | 1 | | 532 | 3513 | 608210 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EXT2 CL E G H | 2132 | 616682 | Seizures, scoliosis, and macrocephaly syndrome | 616682 | C4225248 | OMIM | 1 | | 532 | 3513 | 608210 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EYA1 CL E G H | 2138 | 2792 | Hyperbilirubinemia type 1 | | | ORPHA | 1 | | 434 | 3519 | 601653 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EZH2 CL E G H | 2146 | 3447 | | | | ORPHA | 1 | | 416 | 3527 | 601573 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EZH2 CL E G H | 2146 | 277590 | Weaver syndrome | 277590 | C0265210 | OMIM | 1 | | 416 | 3527 | 601573 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FAM111A CL E G H | 63901 | 602361 | Gracile bone dysplasia | 602361 | C1865639 | OMIM | 1 | | 92 | 24725 | 615292 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FAM126A CL E G H | 84668 | 85163 | | | | ORPHA | 1 | | | 24587 | 610531 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FAM126A CL E G H | 84668 | 610532 | Hypomyelination and Congenital Cataract | 610532 | C1864663 | OMIM | 1 | | | 24587 | 610531 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FAM20C CL E G H | 56975 | 259775 | Raine syndrome | 259775 | C1850106 | OMIM | 1 | | 350 | 22140 | 611061 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FANCA CL E G H | 2175 | 84 | | | | ORPHA | 1 | | 3697 | 3582 | 607139 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FANCB CL E G H | 2187 | 84 | | | | ORPHA | 1 | | 516 | 3583 | 300515 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FANCC CL E G H | 2176 | 84 | | | | ORPHA | 1 | | 1542 | 3584 | 613899 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FANCD2 CL E G H | 2177 | 84 | | | | ORPHA | 1 | | 1041 | 3585 | 613984 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FANCE CL E G H | 2178 | 84 | | | | ORPHA | 1 | | 424 | 3586 | 613976 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FANCE CL E G H | 2178 | 600901 | Fanconi anemia, complementation group E | 600901 | C3160739 | OMIM | 1 | | 424 | 3586 | 613976 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FANCF CL E G H | 2188 | 84 | | | | ORPHA | 1 | | 353 | 3587 | 613897 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FANCG CL E G H | 2189 | 84 | | | | ORPHA | 1 | | 634 | 3588 | 602956 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FANCI CL E G H | 55215 | 84 | | | | ORPHA | 1 | | 1212 | 25568 | 611360 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FANCI CL E G H | 55215 | 609053 | Fanconi anemia, complementation group I | 609053 | C1836861 | OMIM | 1 | | 1212 | 25568 | 611360 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FANCL CL E G H | 55120 | 84 | | | | ORPHA | 1 | | 427 | 20748 | 608111 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FANCL CL E G H | 55120 | 614083 | Fanconi anemia, complementation group L | 614083 | C3469528 | OMIM | 1 | | 427 | 20748 | 608111 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FANCM CL E G H | 57697 | 84 | | | | ORPHA | 1 | | 1633 | 23168 | 609644 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FAR1 CL E G H | 84188 | 616154 | Peroxisomal fatty acyl-coa reductase 1 disorder | 616154 | C4015344 | OMIM | 1 | | 197 | 26222 | 616107 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 479 | 21062 | 611592 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FASTKD2 CL E G H | 22868 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 315 | 29160 | 612322 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 490 | 13601 | 605654 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FBXO11 CL E G H | 80204 | 618089 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES | 618089 | CN252702 | OMIM | 1 | | 530 | 13590 | 607871 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 1 | | 210 | 3668 | 601513 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGFR1 CL E G H | 2260 | 2396 | | | | ORPHA | 1 | | 688 | 3688 | 136350 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGFR1 CL E G H | 2260 | 613001 | Encephalocraniocutaneous lipomatosis | 613001 | C0406612 | OMIM | 1 | | 688 | 3688 | 136350 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGFR1 CL E G H | 2260 | 615465 | Hartsfield syndrome | 615465 | C1845146 | OMIM | 1 | | 688 | 3688 | 136350 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGFR2 CL E G H | 2263 | 93259 | | | | ORPHA | 1 | | 567 | 3689 | 176943 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGFR2 CL E G H | 2263 | 123790 | Cutis Gyrata syndrome of Beare and Stevenson | 123790 | C1852406 | OMIM | 1 | | 567 | 3689 | 176943 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGFR3 CL E G H | 2261 | 610474 | Camptodactyly, tall stature, and hearing loss syndrome | 610474 | C1864852 | OMIM | 1 | | 746 | 3690 | 134934 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGFR3 CL E G H | 2261 | 602849 | Muenke syndrome | 602849 | C1864436 | OMIM | 1 | | 746 | 3690 | 134934 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGFR3 CL E G H | 2261 | 616482 | Severe achondroplasia with developmental delay and acanthosis nigricans | 616482 | C2674173 | OMIM | 1 | | 746 | 3690 | 134934 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGFR3 CL E G H | 2261 | 187600 | Thanatophoric dysplasia type 1 | 187600 | C1868678 | OMIM | 1 | | 746 | 3690 | 134934 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGFRL1 CL E G H | 53834 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 288 | 3693 | 605830 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FH CL E G H | 2271 | 606812 | Fumarase deficiency | 606812 | C0342770 | OMIM | 1 | | 1594 | 3700 | 136850 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FIBP CL E G H | 9158 | 617107 | Thauvin-Robinet-Faivre syndrome | 617107 | C4310715 | OMIM | 1 | | 37 | 3705 | 608296 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FIG4 CL E G H | 9896 | 3472 | Meningococcemia | | | ORPHA | 1 | | 749 | 16873 | 609390 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FKRP CL E G H | 79147 | 899 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FKRP CL E G H | 79147 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 787 | 17997 | 606596 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FKTN CL E G H | 2218 | 899 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FKTN CL E G H | 2218 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FKTN CL E G H | 2218 | 272 | VACTERL hydrocephaly | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FLCN CL E G H | 201163 | 610883 | Chromosome 17, trisomy 17p11 2 | 610883 | C2931246 | OMIM | 1 | | 1833 | 27310 | 607273 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FLI1 CL E G H | 2313 | 2308 | Fetal minoxidil syndrome | | | ORPHA | 1 | | 178 | 3749 | 193067 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FLII CL E G H | 2314 | 819 | | | | ORPHA | 1 | | 154 | 3750 | 600362 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FLNA CL E G H | 2316 | 90652 | | | | ORPHA | 1 | | 2538 | 3754 | 300017 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FLVCR2 CL E G H | 55640 | 225790 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | 225790 | C1856972 | OMIM | 1 | | 141 | 20105 | 610865 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FMN2 CL E G H | 56776 | 616193 | Mental retardation, autosomal recessive 47 | 616193 | C4015444 | OMIM | 1 | | 218 | 14074 | 606373 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FMR1 CL E G H | 2332 | 261483 | | | | ORPHA | 1 | | 338 | 3775 | 309550 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FOXE1 CL E G H | 2304 | 95713 | | | | ORPHA | 1 | | 71 | 3806 | 602617 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FOXRED1 CL E G H | 55572 | 255241 | | | | ORPHA | 1 | | 255 | 26927 | 613622 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 255 | 26927 | 613622 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FRA16E CL E G H | 2464 | 136570 | Chromosome 16p12.1 deletion syndrome, 520-kb | 136570 | C3149276 | OMIM | 1 | | | 3861 | 0 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FRMD4A CL E G H | 55691 | 466688 | | | | ORPHA | 1 | | 57 | 25491 | 616305 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FRMD4A CL E G H | 55691 | 616819 | Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | 616819 | C4225193 | OMIM | 1 | | 57 | 25491 | 616305 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FRMPD4 CL E G H | 9758 | 300983 | Mental retardation, X-linked 104 | 300983 | C4310817 | OMIM | 1 | | 352 | 29007 | 300838 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FRRS1L CL E G H | 23732 | 616981 | Epileptic encephalopathy, early infantile, 37 | 616981 | C4310770 | OMIM | 1 | | 341 | 1362 | 604574 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 199 | 24678 | 610966 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FTSJ1 CL E G H | 24140 | 309549 | Mental retardation 9, X-linked | 309549 | C0796215 | OMIM | 1 | | 226 | 13254 | 300499 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FUCA1 CL E G H | 2517 | 349 | Neuroaxonal dystrophy renal tubular acidosis | | | ORPHA | 1 | | 222 | 4006 | 612280 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FUT8 CL E G H | 2530 | 618005 | CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION | 618005 | CN248517 | OMIM | 1 | | 79 | 4019 | 602589 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GABRA1 CL E G H | 2554 | 615744 | Epileptic encephalopathy, early infantile, 19 | 615744 | C3810400 | OMIM | 1 | | 519 | 4075 | 137160 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GABRB1 CL E G H | 2560 | 617153 | Epileptic encephalopathy, early infantile, 45 | 617153 | C4310691 | OMIM | 1 | | 173 | 4081 | 137190 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 1 | | 421 | 4082 | 600232 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 421 | 4082 | 600232 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GABRB3 CL E G H | 2562 | 617113 | Epileptic encephalopathy, early infantile, 43 | 617113 | C4310712 | OMIM | 1 | | 732 | 4083 | 137192 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GABRD CL E G H | 2563 | 1606 | | | | ORPHA | 1 | | 397 | 4084 | 137163 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GAD1 CL E G H | 2571 | 603513 | Cerebral palsy, spastic quadriplegic, 1 | 603513 | C2751938 | OMIM | 1 | | 189 | 4092 | 605363 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GALE CL E G H | 2582 | 230350 | UDPglucose-4-epimerase deficiency | 230350 | C0751161 | OMIM | 1 | | 153 | 4116 | 606953 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GAMT CL E G H | 2593 | 612736 | Deficiency of guanidinoacetate methyltransferase | 612736 | C0574080 | OMIM | 1 | | 487 | 4136 | 601240 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GATA4 CL E G H | 2626 | 251071 | | | | ORPHA | 1 | | 630 | 4173 | 600576 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GATA6 CL E G H | 2627 | 600001 | Pancreatic agenesis and congenital heart disease | 600001 | C1838780 | OMIM | 1 | | 378 | 4174 | 601656 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GATM CL E G H | 2628 | 612718 | Arginine:glycine amidinotransferase deficiency | 612718 | C2675179 | OMIM | 1 | | 359 | 4175 | 602360 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GBA CL E G H | 2629 | 230900 | Acute neuronopathic Gaucher's disease | 230900 | C0268250 | OMIM | 1 | | | 4177 | 606463 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 364 | 4193 | 600225 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GCK CL E G H | 2645 | 99885 | | | | ORPHA | 1 | | 762 | 4195 | 138079 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GCK CL E G H | 2645 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 762 | 4195 | 138079 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GDI1 CL E G H | 2664 | 300849 | X-Linked Mental Retardation 41 | 300849 | C3887939 | OMIM | 1 | | 279 | 4226 | 300104 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GEMIN4 CL E G H | 50628 | 617913 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES | 617913 | CN889218 | OMIM | 1 | | 152 | 15717 | 606969 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GFER CL E G H | 2671 | 330054 | | | | ORPHA | 1 | | 135 | 4236 | 600924 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GFER CL E G H | 2671 | 613076 | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay | 613076 | C2751320 | OMIM | 1 | | 135 | 4236 | 600924 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GK CL E G H | 2710 | 307030 | Deficiency of glycerol kinase | 307030 | C0268418 | OMIM | 1 | | 220 | 4289 | 300474 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GLI2 CL E G H | 2736 | 610829 | Holoprosencephaly 9 | 610829 | C1835819 | OMIM | 1 | | 600 | 4318 | 165230 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GLIS3 CL E G H | 169792 | 610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | 610199 | C1857775 | OMIM | 1 | | 593 | 28510 | 610192 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 81 | 24247 | 610516 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GM2A CL E G H | 2760 | 272750 | Tay-Sachs disease, variant AB | 272750 | C0268275 | OMIM | 1 | | 166 | 4367 | 613109 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GMPPA CL E G H | 29926 | 615510 | Alacrima, achalasia, and mental retardation syndrome | 615510 | C3809738 | OMIM | 1 | | 118 | 22923 | 615495 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GMPPB CL E G H | 29925 | 363623 | | | | ORPHA | 1 | | 273 | 22932 | 615320 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GMPPB CL E G H | 29925 | 615350 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 | 615350 | C3809216 | OMIM | 1 | | 273 | 22932 | 615320 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GMPPB CL E G H | 29925 | 615351 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 | 615351 | C3809221 | OMIM | 1 | | 273 | 22932 | 615320 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GNAO1 CL E G H | 2775 | 615473 | Early infantile epileptic encephalopathy 17 | 615473 | C3809606 | OMIM | 1 | | 358 | 4389 | 139311 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GNAO1 CL E G H | 2775 | 617493 | Neurodevelopmental disorder with involuntary movements | 617493 | C4479569 | OMIM | 1 | | 358 | 4389 | 139311 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GNB1 CL E G H | 2782 | 488613 | | | | ORPHA | 1 | | 310 | 4396 | 139380 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GNB1 CL E G H | 2782 | 616973 | Mental retardation, autosomal dominant 42 | 616973 | C4310774 | OMIM | 1 | | 310 | 4396 | 139380 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GNB5 CL E G H | 10681 | 617173 | Intellectual developmental disorder with cardiac arrhythmia | 617173 | C4310682 | OMIM | 1 | | 140 | 4401 | 604447 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GNE CL E G H | 10020 | 269921 | Sialuria | 269921 | C0342853 | OMIM | 1 | | 783 | 23657 | 603824 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GNPTAB CL E G H | 79158 | 252500 | I cell disease | 252500 | C2673377 | OMIM | 1 | | 1003 | 29670 | 607840 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GP1BB CL E G H | 2812 | 567 | | | | ORPHA | 1 | | 449 | 4440 | 138720 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 353 | 4446 | 603048 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GPHN CL E G H | 10243 | 615501 | Molybdenum cofactor deficiency, complementation group C | 615501 | C1854990 | OMIM | 1 | | 982 | 15465 | 603930 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GPR88 CL E G H | 54112 | 616939 | Chorea, childhood-onset, with psychomotor retardation | 616939 | C4310787 | OMIM | 1 | | 40 | 4539 | 607468 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GPT2 CL E G H | 84706 | 477673 | ANO5-Related Disorders | | CN239193 | ORPHA | 1 | | 86 | 18062 | 138210 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GPT2 CL E G H | 84706 | 616281 | Mental retardation, autosomal recessive 49 | 616281 | C4225388 | OMIM | 1 | | 86 | 18062 | 138210 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRIA4 CL E G H | 2893 | 617864 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES | 617864 | CN800195 | OMIM | 1 | | 63 | 4574 | 138246 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRID2 CL E G H | 2895 | 616204 | Spinocerebellar ataxia, autosomal recessive 18 | 616204 | C4015505 | OMIM | 1 | | 158 | 4576 | 602368 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRIK2 CL E G H | 2898 | 611092 | Mental retardation, autosomal recessive 6 | 611092 | C1970198 | OMIM | 1 | | 123 | 4580 | 138244 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 735 | 4584 | 138249 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRIN2B CL E G H | 2904 | 616139 | Epileptic encephalopathy, early infantile, 27 | 616139 | C4015316 | OMIM | 1 | | 1124 | 4586 | 138252 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRIN2B CL E G H | 2904 | 613970 | Mental retardation, autosomal dominant 6 | 613970 | C3151411 | OMIM | 1 | | 1124 | 4586 | 138252 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 1 | | 519 | 4588 | 602717 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRIN2D CL E G H | 2906 | 617162 | Epileptic encephalopathy, early infantile, 46 | 617162 | C4310687 | OMIM | 1 | | 519 | 4588 | 602717 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRM1 CL E G H | 2911 | 614831 | Spinocerebellar ataxia, autosomal recessive 13 | 614831 | C3553816 | OMIM | 1 | | 216 | 4593 | 604473 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 79 | 4670 | 607434 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GTPBP3 CL E G H | 84705 | 616198 | Combined oxidative phosphorylation deficiency 23 | 616198 | C4015447 | OMIM | 1 | | 342 | 14880 | 608536 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | H19 CL E G H | 283120 | 180860 | Russell-Silver syndrome | 180860 | C0175693 | OMIM | 1 | | 58 | 4713 | 103280 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HACE1 CL E G H | 57531 | 464282 | | | | ORPHA | 1 | | 107 | 21033 | 610876 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HACE1 CL E G H | 57531 | 616756 | Spastic paraplegia and psychomotor retardation with or without seizures | 616756 | C4225215 | OMIM | 1 | | 107 | 21033 | 610876 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HADHA CL E G H | 3030 | 5 | | | | ORPHA | 1 | | 630 | 4801 | 600890 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HADHA CL E G H | 3030 | 609015 | Mitochondrial trifunctional protein deficiency | 609015 | C0342786 | OMIM | 1 | | 630 | 4801 | 600890 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HADHB CL E G H | 3032 | 609015 | Mitochondrial trifunctional protein deficiency | 609015 | C0342786 | OMIM | 1 | | 263 | 4803 | 143450 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 1 | | 635 | 4845 | 602780 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HDAC4 CL E G H | 9759 | 1001 | Branchial arch defects | | | ORPHA | 1 | | 427 | 14063 | 605314 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HDAC8 CL E G H | 55869 | 3459 | | | | ORPHA | 1 | | 322 | 13315 | 300269 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HELLS CL E G H | 3070 | 2268 | | | | ORPHA | 1 | | 194 | 4861 | 603946 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HERC1 CL E G H | 8925 | 617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | 617011 | C4310766 | OMIM | 1 | | 618 | 4867 | 605109 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HERC2 CL E G H | 8924 | 615516 | Mental retardation, autosomal recessive 38 | 615516 | C3809753 | OMIM | 1 | | 641 | 4868 | 605837 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HERC2 CL E G H | 8924 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 641 | 4868 | 605837 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HESX1 CL E G H | 8820 | 226307 | | | | ORPHA | 1 | | 76 | 4877 | 601802 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HESX1 CL E G H | 8820 | 182230 | Septo-optic dysplasia sequence | 182230 | C0338503 | OMIM | 1 | | 76 | 4877 | 601802 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HIBCH CL E G H | 26275 | 250620 | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 250620 | C0342738 | OMIM | 1 | | 171 | 4908 | 610690 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HIKESHI CL E G H | 51501 | 616881 | Leukodystrophy, hypomyelinating, 13 | 616881 | C4225170 | OMIM | 1 | | 52 | 26938 | 614908 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HIRA CL E G H | 7290 | 567 | | | | ORPHA | 1 | | 435 | 4916 | 600237 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HIST1H1E CL E G H | 3008 | 617537 | RAHMAN SYNDROME | 617537 | C4479637 | OMIM | 1 | | | 4718 | 142220 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HIVEP2 CL E G H | 3097 | 616977 | Mental retardation, autosomal dominant 43 | 616977 | C4310771 | OMIM | 1 | | 282 | 4921 | 143054 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HLCS CL E G H | 3141 | 253270 | Holocarboxylase synthetase deficiency | 253270 | C0268581 | OMIM | 1 | | 722 | 4976 | 609018 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HMGA2 CL E G H | 8091 | 94063 | | | | ORPHA | 1 | | 27 | 5009 | 600698 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HMGB3 CL E G H | 3149 | 300915 | Microphthalmia, syndromic 13 | 300915 | C3806742 | OMIM | 1 | | 184 | 5004 | 300193 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HNMT CL E G H | 3176 | 616739 | Mental retardation, autosomal recessive 51 | 616739 | C4225220 | OMIM | 1 | | 42 | 5028 | 605238 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HNRNPH2 CL E G H | 3188 | 300986 | Mental retardation, X-linked, syndromic, Bain type | 300986 | C4310814 | OMIM | 1 | | 186 | 5042 | 300610 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HNRNPK CL E G H | 3190 | 616580 | AU-KLINE SYNDROME | 616580 | C4225274 | OMIM | 1 | | 129 | 5044 | 600712 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HNRNPU CL E G H | 3192 | 238769 | | | | ORPHA | 1 | | 692 | 5048 | 602869 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HNRNPU CL E G H | 3192 | 617391 | Epileptic encephalopathy, early infantile, 54 | 617391 | C4479319 | OMIM | 1 | | 692 | 5048 | 602869 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HRAS CL E G H | 3265 | 218040 | Costello syndrome | 218040 | C0587248 | OMIM | 1 | | 547 | 5173 | 190020 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 222 | 4800 | 300256 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 786 | 5213 | 601860 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HSPD1 CL E G H | 3329 | 612233 | Leukodystrophy, hypomyelinating, 4 | 612233 | C2677109 | OMIM | 1 | | 207 | 5261 | 118190 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HTT CL E G H | 3064 | 617435 | Lopes-Maciel-Rodan syndrome | 617435 | C4479491 | OMIM | 1 | | 735 | 4851 | 613004 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HYLS1 CL E G H | 219844 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 229 | 26558 | 610693 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HYMAI CL E G H | 57061 | 99886 | | | | ORPHA | 1 | | 17 | 5326 | 606546 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IARS CL E G H | 3376 | 617093 | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 617093 | C4310720 | OMIM | 1 | | | 5330 | 600709 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IDH2 CL E G H | 3418 | 613657 | D-2-hydroxyglutaric aciduria 2 | 613657 | C3150909 | OMIM | 1 | | 184 | 5383 | 147650 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IDUA CL E G H | 3425 | 93473 | | | | ORPHA | 1 | | 1313 | 5391 | 252800 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IDUA CL E G H | 3425 | 607014 | Dysostosis multiplex | 607014 | C0086795 | OMIM | 1 | | 1313 | 5391 | 252800 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IER3IP1 CL E G H | 51124 | 614231 | Microcephaly, epilepsy, and diabetes syndrome | 614231 | C3280240 | OMIM | 1 | | 127 | 18550 | 609382 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 1 | | 892 | 18873 | 606951 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IFIH1 CL E G H | 64135 | 615846 | Aicardi-Goutieres syndrome 7 | 615846 | C3888244 | OMIM | 1 | | 892 | 18873 | 606951 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IGF1R CL E G H | 3480 | 270450 | Insulin-like growth factor 1 resistance to | 270450 | C1849157 | OMIM | 1 | | 713 | 5465 | 147370 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IGF2 CL E G H | 3481 | 180860 | Russell-Silver syndrome | 180860 | C0175693 | OMIM | 1 | | 98 | 5466 | 147470 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | INPP5E CL E G H | 56623 | 220493 | | | | ORPHA | 1 | | 620 | 21474 | 613037 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | INPP5E CL E G H | 56623 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 620 | 21474 | 613037 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 620 | 21474 | 613037 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | INPP5K CL E G H | 51763 | 559 | | | | ORPHA | 1 | | 157 | 33882 | 607875 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | INPP5K CL E G H | 51763 | 617404 | Muscular dystrophy, congenital, with cataracts and intellectual disability | 617404 | C4479410 | OMIM | 1 | | 157 | 33882 | 607875 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | INS CL E G H | 3630 | 99885 | | | | ORPHA | 1 | | 168 | 6081 | 176730 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | INS CL E G H | 3630 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 168 | 6081 | 176730 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | INSR CL E G H | 3643 | 262190 | Pineal hyperplasia AND diabetes mellitus syndrome | 262190 | C0271695 | OMIM | 1 | | 553 | 6091 | 147670 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | INVS CL E G H | 27130 | 3156 | | | | ORPHA | 1 | | 581 | 17870 | 243305 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IPW CL E G H | 3653 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 294 | 6109 | 601491 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IQCB1 CL E G H | 9657 | 3156 | | | | ORPHA | 1 | | 387 | 28949 | 609237 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IQSEC2 CL E G H | 23096 | 819 | | | | ORPHA | 1 | | 955 | 29059 | 300522 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IRF2BPL CL E G H | 64207 | 618088 | NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES | 618088 | CN252701 | OMIM | 1 | | 167 | 14282 | 611720 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ISCA1 CL E G H | 81689 | 617613 | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 | 617613 | C4539919 | OMIM | 1 | | 44 | 28660 | 611006 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ISPD CL E G H | 729920 | 899 | | | | ORPHA | 1 | | 647 | 37276 | 614631 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ITCH CL E G H | 83737 | 613385 | Autoimmune disease, syndromic multisystem | 613385 | C3150649 | OMIM | 1 | | 262 | 13890 | 606409 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ITPR1 CL E G H | 3708 | 1065 | Camptodactyly joint contractures and facial skeletal dysplasia | | | ORPHA | 1 | | 1134 | 6180 | 147265 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IVD CL E G H | 3712 | 33 | | | | ORPHA | 1 | | 492 | 6186 | 607036 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IVD CL E G H | 3712 | 243500 | Isovaleryl-CoA dehydrogenase deficiency | 243500 | C0268575 | OMIM | 1 | | 492 | 6186 | 607036 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IYD CL E G H | 389434 | 95716 | | | | ORPHA | 1 | | 65 | 21071 | 612025 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | JAM3 CL E G H | 83700 | 613730 | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | 613730 | C3151000 | OMIM | 1 | | 201 | 15532 | 606871 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | JMJD1C CL E G H | 221037 | 567 | | | | ORPHA | 1 | | 971 | 12313 | 604503 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KANSL1 CL E G H | 284058 | 610443 | Koolen-de Vries syndrome | 610443 | C1864871 | OMIM | 1 | | 1218 | 24565 | 612452 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KARS CL E G H | 3735 | 613641 | Charcot-Marie-Tooth disease, recessive intermediate B | 613641 | C3150897 | OMIM | 1 | | | 6215 | 601421 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KAT6A CL E G H | 7994 | 457193 | | | | ORPHA | 1 | | 545 | 13013 | 601408 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KAT6A CL E G H | 7994 | 616268 | Mental retardation, autosomal dominant 32 | 616268 | C4225396 | OMIM | 1 | | 545 | 13013 | 601408 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KAT6B CL E G H | 23522 | 3047 | | | | ORPHA | 1 | | 605 | 17582 | 605880 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KAT6B CL E G H | 23522 | 85201 | | | | ORPHA | 1 | | 605 | 17582 | 605880 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KAT6B CL E G H | 23522 | 606170 | Genitopatellar syndrome | 606170 | C1853566 | OMIM | 1 | | 605 | 17582 | 605880 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KATNB1 CL E G H | 10300 | 616212 | Lissencephaly 6, with microcephaly | 616212 | C4015525 | OMIM | 1 | | 188 | 6217 | 602703 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 1 | | 325 | 6220 | 176262 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNAB2 CL E G H | 8514 | 1606 | | | | ORPHA | 1 | | 91 | 6229 | 601142 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 1 | | 518 | 6231 | 600397 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNB1 CL E G H | 3745 | 616056 | Epileptic encephalopathy, early infantile, 26 | 616056 | C4015119 | OMIM | 1 | | 518 | 6231 | 600397 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 1 | | 216 | 6235 | 176264 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNH1 CL E G H | 3756 | 611816 | Temple-Baraitser syndrome | 611816 | C2678486 | OMIM | 1 | | 413 | 6250 | 603305 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNJ1 CL E G H | 3758 | 241200 | Bartter syndrome, type 2, antenatal | 241200 | C1855849 | OMIM | 1 | | 213 | 6255 | 600359 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNJ10 CL E G H | 3766 | 612780 | SeSAME syndrome | 612780 | C2748572 | OMIM | 1 | | 335 | 6256 | 602208 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNJ11 CL E G H | 3767 | 99885 | | | | ORPHA | 1 | | 380 | 6257 | 600937 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNJ11 CL E G H | 3767 | 99886 | | | | ORPHA | 1 | | 380 | 6257 | 600937 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNJ11 CL E G H | 3767 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 380 | 6257 | 600937 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNMA1 CL E G H | 3778 | 617643 | CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | 617643 | C4539985 | OMIM | 1 | | 868 | 6284 | 600150 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNQ2 CL E G H | 3785 | 613720 | Early infantile epileptic encephalopathy 7 | 613720 | C3150986 | OMIM | 1 | | 1689 | 6296 | 602235 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNQ5 CL E G H | 56479 | 617601 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 | 617601 | C4539851 | OMIM | 1 | | 326 | 6299 | 607357 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNT2 CL E G H | 343450 | 617771 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57 | 617771 | C4540411 | OMIM | 1 | | 83 | 18866 | 610044 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KDM5B CL E G H | 10765 | 618109 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 | 618109 | CN253823 | OMIM | 1 | | 133 | 18039 | 605393 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KDM6A CL E G H | 7403 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 678 | 12637 | 300128 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIAA0556 CL E G H | 23247 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | | 29068 | 616650 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIAA0556 CL E G H | 23247 | 616784 | Joubert syndrome 26 | 616784 | C4084843 | OMIM | 1 | | | 29068 | 616650 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIAA0586 CL E G H | 9786 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 828 | 19960 | 610178 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 828 | 19960 | 610178 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIAA0753 CL E G H | 9851 | 2754 | | | | ORPHA | 1 | | 217 | 29110 | 617112 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIAA1109 CL E G H | 84162 | 617822 | ALKURAYA-KUCINSKAS SYNDROME | 617822 | CN737163 | OMIM | 1 | | | 26953 | 611565 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIDINS220 CL E G H | 57498 | 617296 | Spastic paraplegia, intellectual disability, nystagmus, and obesity | 617296 | C4284592 | OMIM | 1 | | 311 | 29508 | 615759 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIF11 CL E G H | 3832 | 2526 | | | | ORPHA | 1 | | 605 | 6388 | 148760 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIF14 CL E G H | 9928 | 2512 | | | | ORPHA | 1 | | 176 | 19181 | 611279 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 2132 | 888 | 601255 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIF1A CL E G H | 547 | 614255 | Mental retardation, autosomal dominant 9 | 614255 | C3280283 | OMIM | 1 | | 2132 | 888 | 601255 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIF1BP CL E G H | 26128 | 609460 | Goldberg-Shprintzen megacolon syndrome | 609460 | C1836123 | OMIM | 1 | | | 23419 | 609367 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIF22 CL E G H | 3835 | 93360 | | | | ORPHA | 1 | | 411 | 6391 | 603213 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIF2A CL E G H | 3796 | 615411 | Cortical dysplasia, complex, with other brain malformations 3 | 615411 | C3809414 | OMIM | 1 | | 319 | 6318 | 602591 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIF5C CL E G H | 3800 | 615282 | Cortical dysplasia, complex, with other brain malformations 2 | 615282 | C3809013 | OMIM | 1 | | 185 | 6325 | 604593 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIF7 CL E G H | 374654 | 2754 | | | | ORPHA | 1 | | 977 | 30497 | 611254 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KLHL15 CL E G H | 80311 | 300982 | Mental retardation, X-linked 103 | 300982 | C4310818 | OMIM | 1 | | 181 | 29347 | 300980 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KLHL7 CL E G H | 55975 | 97297 | | | | ORPHA | 1 | | 258 | 15646 | 611119 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KLLN CL E G H | 100144748 | 201 | | | | ORPHA | 1 | | 316 | 37212 | 612105 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KMT2A CL E G H | 4297 | 605130 | Wiedemann-Steiner syndrome | 605130 | C1854630 | OMIM | 1 | | 1317 | 7132 | 159555 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KMT2C CL E G H | 58508 | 617768 | KLEEFSTRA SYNDROME 2 | 617768 | C4540395 | OMIM | 1 | | 851 | 13726 | 606833 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KMT2D CL E G H | 8085 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 2939 | 7133 | 602113 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KMT5B CL E G H | 51111 | 617788 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 | 617788 | C4540474 | OMIM | 1 | | 110 | 24283 | 610881 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KNL1 CL E G H | 57082 | 2512 | | | | ORPHA | 1 | | 319 | 24054 | 609173 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KPTN CL E G H | 11133 | 615637 | Mental retardation, autosomal recessive 41 | 615637 | C3810225 | OMIM | 1 | | 117 | 6404 | 615620 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KRAS CL E G H | 3845 | 2396 | | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KRAS CL E G H | 3845 | 615278 | Cardiofaciocutaneous syndrome 2 | 615278 | C3809005 | OMIM | 1 | | 440 | 6407 | 190070 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KRAS CL E G H | 3845 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KRAS CL E G H | 3845 | 609942 | Noonan syndrome 3 | 609942 | C1860991 | OMIM | 1 | | 440 | 6407 | 190070 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KYNU CL E G H | 8942 | 79155 | | | | ORPHA | 1 | | 62 | 6469 | 605197 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KYNU CL E G H | 8942 | 236800 | Hydroxykynureninuria | 236800 | C0268474 | OMIM | 1 | | 62 | 6469 | 605197 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LAGE3 CL E G H | 8270 | 2065 | | | | ORPHA | 1 | | 233 | 26058 | 300060 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LAGE3 CL E G H | 8270 | 301006 | GALLOWAY-MOWAT SYNDROME 2, X-LINKED | 301006 | C4538784 | OMIM | 1 | | 233 | 26058 | 300060 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LAMB2 CL E G H | 3913 | 98915 | | | | ORPHA | 1 | | 677 | 6487 | 150325 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LAMP2 CL E G H | 3920 | 300257 | Danon disease | 300257 | C0878677 | OMIM | 1 | | 759 | 6501 | 309060 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LARGE1 CL E G H | 9215 | 899 | | | | ORPHA | 1 | | 658 | 6511 | 603590 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LARGE1 CL E G H | 9215 | 608840 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | 608840 | C1837229 | OMIM | 1 | | 658 | 6511 | 603590 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LARGE1 CL E G H | 9215 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 658 | 6511 | 603590 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LARP7 CL E G H | 51574 | 615071 | Alazami syndrome | 615071 | C3554439 | OMIM | 1 | | 162 | 24912 | 612026 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LARS CL E G H | 51520 | 615438 | Infantile liver failure syndrome 1 | 615438 | C3809522 | OMIM | 1 | | | 6512 | 151350 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LAS1L CL E G H | 81887 | 3459 | | | | ORPHA | 1 | | 243 | 25726 | 300964 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LAS1L CL E G H | 81887 | 309585 | Wilson-Turner X-linked mental retardation syndrome | 309585 | C1839736 | OMIM | 1 | | 243 | 25726 | 300964 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LBR CL E G H | 3930 | 169400 | Pelger-Huët anomaly | 169400 | C0030779 | OMIM | 1 | | 285 | 6518 | 600024 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LEMD3 CL E G H | 23592 | 94063 | | | | ORPHA | 1 | | 299 | 28887 | 607844 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LETM1 CL E G H | 3954 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 263 | 6556 | 604407 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LETM1 CL E G H | 3954 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 263 | 6556 | 604407 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LHX3 CL E G H | 8022 | 226307 | | | | ORPHA | 1 | | 379 | 6595 | 600577 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LHX4 CL E G H | 89884 | 226307 | | | | ORPHA | 1 | | 144 | 21734 | 602146 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LIG4 CL E G H | 3981 | 99812 | | | | ORPHA | 1 | | 510 | 6601 | 601837 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LIG4 CL E G H | 3981 | 606593 | Lig4 syndrome | 606593 | C1847827 | OMIM | 1 | | 510 | 6601 | 601837 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LINGO1 CL E G H | 84894 | 618103 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64 | 618103 | CN253431 | OMIM | 1 | | 41 | 21205 | 609791 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LINS1 CL E G H | 55180 | 614340 | Mental retardation, autosomal recessive 27 | 614340 | C3280538 | OMIM | 1 | | 255 | 30922 | 610350 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LIPA CL E G H | 3988 | 75233 | | | | ORPHA | 1 | | 461 | 6617 | 613497 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LIPT1 CL E G H | 51601 | 255241 | | | | ORPHA | 1 | | 98 | 29569 | 610284 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LIPT1 CL E G H | 51601 | 616299 | Lipoyltransferase 1 deficiency | 616299 | C4225379 | OMIM | 1 | | 98 | 29569 | 610284 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LMAN2L CL E G H | 81562 | 616887 | Mental retardation, autosomal recessive 52 | 616887 | C4225168 | OMIM | 1 | | 73 | 19263 | 609552 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LMBRD1 CL E G H | 55788 | 277380 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE | 277380 | C1848578 | OMIM | 1 | | 216 | 23038 | 612625 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LMNA CL E G H | 4000 | 157973 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LMNB2 CL E G H | 84823 | 616540 | Epilepsy, progressive myoclonic, 9 | 616540 | C4225289 | OMIM | 1 | | 466 | 6638 | 150341 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LNPK CL E G H | 80856 | 618090 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM | 618090 | CN252703 | OMIM | 1 | | 44 | 21610 | 610236 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LONP1 CL E G H | 9361 | 1458 | | | | ORPHA | 1 | | 501 | 9479 | 605490 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LONP1 CL E G H | 9361 | 600373 | CODAS syndrome | 600373 | C1838180 | OMIM | 1 | | 501 | 9479 | 605490 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LRP2 CL E G H | 4036 | 2143 | Junctional epidermolysis bullosa inversa | | | ORPHA | 1 | | 2105 | 6694 | 600073 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LRPPRC CL E G H | 10128 | 220111 | Leigh syndrome, French Canadian type | 220111 | C1857355 | OMIM | 1 | | 1154 | 15714 | 607544 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LTBP4 CL E G H | 8425 | 98896 | | | | ORPHA | 1 | | 540 | 6717 | 604710 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LTC4S CL E G H | 4056 | 614037 | Leukotriene c4 synthase deficiency | 614037 | C3279662 | OMIM | 1 | | 47 | 6719 | 246530 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 77 | 28072 | 615831 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LYST CL E G H | 1130 | 167 | | | | ORPHA | 1 | | 1754 | 1968 | 606897 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LZTFL1 CL E G H | 54585 | 615994 | Bardet-Biedl syndrome 17 | 615994 | C3714980 | OMIM | 1 | | 110 | 6741 | 606568 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAD2L2 CL E G H | 10459 | 84 | | | | ORPHA | 1 | | 57 | 6764 | 604094 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAG CL E G H | 4099 | 459056 | | | | ORPHA | 1 | | 171 | 6783 | 159460 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAG CL E G H | 4099 | 616680 | Spastic paraplegia 75, autosomal recessive | 616680 | C4225250 | OMIM | 1 | | 171 | 6783 | 159460 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAGEL2 CL E G H | 54551 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 620 | 6814 | 605283 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAGEL2 CL E G H | 54551 | 615547 | Schaaf-yang syndrome | 615547 | C3809877 | OMIM | 1 | | 620 | 6814 | 605283 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAN1B1 CL E G H | 11253 | 614202 | Mental retardation, autosomal recessive 15 | 614202 | C3280127 | OMIM | 1 | | 398 | 6823 | 604346 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAN2B1 CL E G H | 4125 | 248500 | Deficiency of alpha-mannosidase | 248500 | C0024748 | OMIM | 1 | | 1015 | 6826 | 609458 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAP2K1 CL E G H | 5604 | 615279 | Cardiofaciocutaneous syndrome 3 | 615279 | C3809006 | OMIM | 1 | | 398 | 6840 | 176872 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAP2K1 CL E G H | 5604 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 398 | 6840 | 176872 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAP2K2 CL E G H | 5605 | 615280 | Cardiofaciocutaneous syndrome 4 | 615280 | C3809007 | OMIM | 1 | | 599 | 6842 | 601263 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAP2K2 CL E G H | 5605 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 599 | 6842 | 601263 |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAPK1 CL E G H | 5594 | 261330 | |