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:0002376 | HP:0002376 | Developmental regression | 0 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 1 | | | 20 | 601065 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 73 | 16066 | 617036 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 665 | 119 | 609751 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 665 | 119 | 609751 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ADA2 CL E G H | 51816 | 820 | | | | ORPHA | 1 | | 533 | 1839 | 607575 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 1122 | 225 | 146920 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 1122 | 225 | 146920 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ADPRHL2 CL E G H | 54936 | 618170 | NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES | 618170 | | OMIM | 1 | | | 21304 | 610624 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | AGA CL E G H | 175 | 208400 | Aspartylglucosaminuria | 208400 | C0268225 | OMIM | 1 | | 509 | 318 | 613228 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | AGTPBP1 CL E G H | 23287 | 618276 | 618276 | 618276 | | OMIM | 1 | | 105 | 17258 | 606830 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 255 | 343 | 180960 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | AIFM1 CL E G H | 9131 | 238329 | | | | ORPHA | 1 | | 575 | 8768 | 300169 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 1 | | 690 | 567 | 602166 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 197 | 20492 | 616003 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ARSA CL E G H | 410 | 309256 | | | | ORPHA | 1 | | 1140 | 713 | 607574 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ARSA CL E G H | 410 | 309263 | | | | ORPHA | 1 | | 1140 | 713 | 607574 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ARSA CL E G H | 410 | 309271 | | | | ORPHA | 1 | | 1140 | 713 | 607574 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 1 | | 89 | 29561 | 611647 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ARX CL E G H | 170302 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 810 | 18060 | 300382 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ASPA CL E G H | 443 | 271900 | Spongy degeneration of central nervous system | 271900 | C0206307 | OMIM | 1 | | 388 | 756 | 608034 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 1 | | 229 | 851 | 607027 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ATP7A CL E G H | 538 | 565 | | | | ORPHA | 1 | | 1751 | 869 | 300011 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 1 | | 102 | 24415 | 613183 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | C12orf65 CL E G H | 91574 | 613559 | Combined oxidative phosphorylation deficiency 7 | 613559 | C3150801 | OMIM | 1 | | | 26784 | 613541 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 1 | | 3248 | 1388 | 601011 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CAD CL E G H | 790 | 616457 | Epileptic encephalopathy, early infantile, 50 | 616457 | C4225320 | OMIM | 1 | | 1320 | 1424 | 114010 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CDKL5 CL E G H | 6792 | 3095 | | | | ORPHA | 1 | | 1738 | 11411 | 300203 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1738 | 11411 | 300203 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CDKL5 CL E G H | 6792 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1738 | 11411 | 300203 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CHD2 CL E G H | 1106 | 615369 | Epileptic encephalopathy, childhood-onset | 615369 | C3809278 | OMIM | 1 | | 1838 | 1917 | 602119 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CIC CL E G H | 23152 | 617600 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 | 617600 | C4539848 | OMIM | 1 | | 480 | 14214 | 612082 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CLN5 CL E G H | 1203 | 256731 | Ceroid lipofuscinosis neuronal 5 | 256731 | C1850442 | OMIM | 1 | | 702 | 2076 | 608102 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CLN8 CL E G H | 2055 | 1947 | | | | ORPHA | 1 | | 640 | 2079 | 607837 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CLN8 CL E G H | 2055 | 600143 | Ceroid lipofuscinosis neuronal 8 | 600143 | C1838570 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 1 | | 645 | 2092 | 118955 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 1 | | 306 | 19701 | 300724 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CNPY3 CL E G H | 10695 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 44 | 11968 | 610774 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 281 | 29932 | 609855 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 1 | | 699 | 16812 | 606980 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 1 | | 668 | 13760 | 606323 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 1 | | 940 | 2605 | 606530 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 142 | 2718 | 600811 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 1 | | 434 | 20603 | 608172 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | DNM1 CL E G H | 1759 | 616346 | Epileptic encephalopathy, early infantile, 31 | 616346 | C4225357 | OMIM | 1 | | 765 | 2972 | 602377 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | EARS2 CL E G H | 124454 | 614924 | Combined oxidative phosphorylation deficiency 12 | 614924 | C3554079 | OMIM | 1 | | 336 | 29419 | 612799 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 1 | | 575 | 3192 | 602959 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | EIF2B1 CL E G H | 1967 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 192 | 3257 | 606686 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | EIF2B2 CL E G H | 8892 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 190 | 3258 | 606454 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | EIF2B3 CL E G H | 8891 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 181 | 3259 | 606273 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | EIF2B4 CL E G H | 8890 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 233 | 3260 | 606687 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | EIF2B5 CL E G H | 8893 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 579 | 3261 | 603945 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | EPRS CL E G H | 2058 | 617951 | LEUKODYSTROPHY, HYPOMYELINATING, 15 | 617951 | CN244566 | OMIM | 1 | | | 3418 | 138295 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 523 | 3435 | 133510 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 726 | 3436 | 133520 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 338 | 23287 | 608451 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 1 | | 259 | 3668 | 601513 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FGF12 CL E G H | 2257 | 617166 | Epileptic encephalopathy, early infantile, 47 | 617166 | C4310685 | OMIM | 1 | | 259 | 3668 | 601513 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FOLR1 CL E G H | 2348 | 613068 | Cerebral folate deficiency | 613068 | C2751584 | OMIM | 1 | | 256 | 3791 | 136430 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FOXG1 CL E G H | 2290 | 3095 | | | | ORPHA | 1 | | 725 | 3811 | 164874 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FOXG1 CL E G H | 2290 | 261144 | | | | ORPHA | 1 | | 725 | 3811 | 164874 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FOXG1 CL E G H | 2290 | 613454 | Rett syndrome, congenital variant | 613454 | C3150705 | OMIM | 1 | | 725 | 3811 | 164874 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FRRS1L CL E G H | 23732 | 616981 | Epileptic encephalopathy, early infantile, 37 | 616981 | C4310770 | OMIM | 1 | | 402 | 1362 | 604574 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GABBR2 CL E G H | 9568 | 3095 | | | | ORPHA | 1 | | 848 | 4507 | 607340 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GABBR2 CL E G H | 9568 | 617903 | NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS | 617903 | CN870852 | OMIM | 1 | | 848 | 4507 | 607340 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GABRB1 CL E G H | 2560 | 617153 | Epileptic encephalopathy, early infantile, 45 | 617153 | C4310691 | OMIM | 1 | | 275 | 4081 | 137190 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 1 | | 494 | 4082 | 600232 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GALC CL E G H | 2581 | 245200 | Galactosylceramide beta-galactosidase deficiency | 245200 | C0023521 | OMIM | 1 | | 1185 | 4115 | 606890 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GFAP CL E G H | 2670 | 203450 | Alexander's disease | 203450 | C0270726 | OMIM | 1 | | 455 | 4235 | 137780 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GM2A CL E G H | 2760 | 309246 | | | | ORPHA | 1 | | 212 | 4367 | 613109 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GRIN2B CL E G H | 2904 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1353 | 4586 | 138252 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 1 | | 823 | 4588 | 602717 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GUF1 CL E G H | 60558 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 309 | 25799 | 617064 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | HACE1 CL E G H | 57531 | 616756 | Spastic paraplegia and psychomotor retardation with or without seizures | 616756 | C4225215 | OMIM | 1 | | 227 | 21033 | 610876 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 1 | | 796 | 4845 | 602780 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | HIBCH CL E G H | 26275 | 250620 | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 250620 | C0342738 | OMIM | 1 | | 235 | 4908 | 610690 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | HNRNPH2 CL E G H | 3188 | 300986 | Mental retardation, X-linked, syndromic, Bain type | 300986 | C4310814 | OMIM | 1 | | 196 | 5042 | 300610 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 256 | 4800 | 300256 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | HTT CL E G H | 3064 | 399 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 760 | 4851 | 613004 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | HTT CL E G H | 3064 | 617435 | Lopes-Maciel-Rodan syndrome | 617435 | C4479491 | OMIM | 1 | | 760 | 4851 | 613004 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 271 | 27302 | 615316 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 1 | | 1170 | 18873 | 606951 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | IRF2BPL CL E G H | 64207 | 618088 | NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES | 618088 | CN252701 | OMIM | 1 | | 312 | 14282 | 611720 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | IRX5 CL E G H | 10265 | 611174 | Hamamy syndrome | 611174 | C1970027 | OMIM | 1 | | 104 | 14361 | 606195 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ISCA1 CL E G H | 81689 | 617613 | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 | 617613 | C4539919 | OMIM | 1 | | 60 | 28660 | 611006 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 1 | | 401 | 6220 | 176262 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 1 | | 635 | 6231 | 600397 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | KCNT1 CL E G H | 57582 | 614959 | Early infantile epileptic encephalopathy 14 | 614959 | C3554195 | OMIM | 1 | | 2000 | 18865 | 608167 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | KCNT2 CL E G H | 343450 | 617771 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57 | 617771 | C4540411 | OMIM | 1 | | 147 | 18866 | 610044 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | KCTD7 CL E G H | 154881 | 263516 | | | | ORPHA | 1 | | 427 | 21957 | 611725 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | L2HGDH CL E G H | 79944 | 236792 | L-2-hydroxyglutaric aciduria | 236792 | C1855995 | OMIM | 1 | | 253 | 20499 | 609584 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | LMBRD1 CL E G H | 55788 | 79284 | | | | ORPHA | 1 | | 276 | 23038 | 612625 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MBTPS2 CL E G H | 51360 | 2273 | Fara Chlupackova syndrome | | | ORPHA | 1 | | 309 | 15455 | 300294 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MECP2 CL E G H | 4204 | 3095 | | | | ORPHA | 1 | | 1925 | 6990 | 300005 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MECP2 CL E G H | 4204 | 312750 | Rett syndrome | 312750 | C0035372 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MRPS34 CL E G H | 65993 | 617664 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 | 617664 | C4540029 | OMIM | 1 | | 138 | 16618 | 611994 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 1 | | | 7414 | 516060 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NAGA CL E G H | 4668 | 79279 | | | | ORPHA | 1 | | 230 | 7631 | 104170 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NAGA CL E G H | 4668 | 609241 | Schindler disease, type 1 | 609241 | C1836544 | OMIM | 1 | | 230 | 7631 | 104170 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 146 | 18453 | 608862 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NDUFS1 CL E G H | 4719 | 618226 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 | 618226 | | OMIM | 1 | | 424 | 7707 | 157655 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NDUFS2 CL E G H | 4720 | 618228 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 | 618228 | | OMIM | 1 | | 247 | 7708 | 602985 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 139 | 7711 | 602694 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NDUFS7 CL E G H | 374291 | 618224 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | 618224 | | OMIM | 1 | | 215 | 7714 | 601825 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NDUFV1 CL E G H | 4723 | 618225 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | 618225 | | OMIM | 1 | | 315 | 7716 | 161015 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NDUFV2 CL E G H | 4729 | 618229 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 | 618229 | | OMIM | 1 | | 229 | 7717 | 600532 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 1 | | 221 | 24539 | 611623 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NOTCH3 CL E G H | 4854 | 136 | | | | ORPHA | 1 | | 1343 | 7883 | 600276 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NRXN1 CL E G H | 9378 | 614325 | Pitt-Hopkins-like syndrome 2 | 614325 | C3280479 | OMIM | 1 | | 2065 | 8008 | 600565 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NTNG1 CL E G H | 22854 | 3095 | | | | ORPHA | 1 | | 57 | 23319 | 608818 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NTRK2 CL E G H | 4915 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 1 | | 161 | 8066 | 605815 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NUP62 CL E G H | 23636 | 271930 | Striatonigral degeneration infantile | 271930 | C0795996 | OMIM | 1 | | 161 | 8066 | 605815 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 1 | | 326 | 21042 | 610463 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PCDH19 CL E G H | 57526 | 300088 | Early infantile epileptic encephalopathy 9 | 300088 | C1848137 | OMIM | 1 | | 1298 | 14270 | 300460 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX1 CL E G H | 5189 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 1537 | 8850 | 602136 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX10 CL E G H | 5192 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 803 | 8851 | 602859 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX11B CL E G H | 8799 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 415 | 8853 | 603867 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX12 CL E G H | 5193 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 459 | 8854 | 601758 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX13 CL E G H | 5194 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 497 | 8855 | 601789 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX14 CL E G H | 5195 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 474 | 8856 | 601791 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX16 CL E G H | 9409 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 470 | 8857 | 603360 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX19 CL E G H | 5824 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 379 | 9713 | 600279 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX2 CL E G H | 5828 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 463 | 9717 | 170993 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX26 CL E G H | 55670 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 522 | 22965 | 608666 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX3 CL E G H | 8504 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 358 | 8858 | 603164 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX5 CL E G H | 5830 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 858 | 9719 | 600414 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX6 CL E G H | 5190 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 1458 | 8859 | 601498 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX7 CL E G H | 5191 | 773 | | | | ORPHA | 1 | | 550 | 8860 | 601757 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PHACTR1 CL E G H | 221692 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 97 | 20990 | 608723 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PHYH CL E G H | 5264 | 773 | | | | ORPHA | 1 | | 382 | 8940 | 602026 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PIGA CL E G H | 5277 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 483 | 8957 | 311770 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PIGT CL E G H | 51604 | 615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 615398 | C3809356 | OMIM | 1 | | 277 | 14938 | 610272 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PIGY CL E G H | 84992 | 616809 | Hyperphosphatasia with mental retardation syndrome 6 | 616809 | C4225201 | OMIM | 1 | | 40 | 28213 | 610662 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PLA2G6 CL E G H | 8398 | 35069 | | | | ORPHA | 1 | | 775 | 9039 | 603604 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PLCB1 CL E G H | 23236 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1107 | 15917 | 607120 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PMPCB CL E G H | 9512 | 617954 | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 | 617954 | CN244567 | OMIM | 1 | | 133 | 9119 | 603131 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | POLG CL E G H | 5428 | 726 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 1 | | 351 | 9314 | 114105 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PPP3CA CL E G H | 5530 | 617711 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 | 617711 | C4540199 | OMIM | 1 | | 351 | 9314 | 114105 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PSAP CL E G H | 5660 | 309256 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PSAP CL E G H | 5660 | 309263 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PSAP CL E G H | 5660 | 309271 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | RANBP2 CL E G H | 5903 | 88619 | | | | ORPHA | 1 | | 1372 | 9848 | 601181 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | RHOBTB2 CL E G H | 23221 | 618004 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 | 618004 | CN248512 | OMIM | 1 | | 592 | 18756 | 607352 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 1 | | 404 | 18518 | 606034 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 1 | | 426 | 25671 | 610326 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 1 | | 307 | 24116 | 610330 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ROGDI CL E G H | 79641 | 1946 | | | | ORPHA | 1 | | 560 | 29478 | 614574 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 1 | | 746 | 15925 | 606754 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SCN2A CL E G H | 6326 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 1 | | 1420 | 10590 | 182391 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SCN8A CL E G H | 6334 | 614558 | Early infantile epileptic encephalopathy 13 | 614558 | C3281191 | OMIM | 1 | | 1799 | 10596 | 600702 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SDHA CL E G H | 6389 | 3208 | | | | ORPHA | 1 | | 2503 | 10680 | 600857 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SDHA CL E G H | 6389 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SDHAF1 CL E G H | 644096 | 3208 | | | | ORPHA | 1 | | 77 | 33867 | 612848 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SDHAF1 CL E G H | 644096 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 77 | 33867 | 612848 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SDHB CL E G H | 6390 | 3208 | | | | ORPHA | 1 | | 1249 | 10681 | 185470 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SDHD CL E G H | 6392 | 3208 | | | | ORPHA | 1 | | 686 | 10683 | 602690 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SDHD CL E G H | 6392 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 686 | 10683 | 602690 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 400 | 21061 | 614725 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SGPL1 CL E G H | 8879 | 617575 | Nephrotic syndrome type 14 | 617575 | C4539778 | OMIM | 1 | | 218 | 10817 | 603729 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SIK1 CL E G H | 150094 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SIN3A CL E G H | 25942 | 613406 | Witteveen-kolk syndrome | 613406 | C3150674 | OMIM | 1 | | 400 | 19353 | 607776 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SLC12A5 CL E G H | 57468 | 616645 | Early infantile epileptic encephalopathy 34 | 616645 | C4225257 | OMIM | 1 | | 791 | 13818 | 606726 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SLC13A5 CL E G H | 284111 | 1946 | | | | ORPHA | 1 | | 685 | 23089 | 608305 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 1 | | 685 | 23089 | 608305 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 1 | | 359 | 10940 | 600300 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SLC29A3 CL E G H | 55315 | 1782 | | | | ORPHA | 1 | | 447 | 23096 | 612373 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SLC2A3 CL E G H | 6515 | 399 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 90 | 11007 | 138170 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SLC30A9 CL E G H | 10463 | 617595 | Birk-Landau-Perez syndrome | 617595 | C4539828 | OMIM | 1 | | 45 | 1329 | 604604 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SLC39A14 CL E G H | 23516 | 617013 | Hypermanganesemia with dystonia 2 | 617013 | C4310765 | OMIM | 1 | | 270 | 20858 | 608736 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 1 | | 809 | 11042 | 137165 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SLC9A6 CL E G H | 10479 | 85278 | | | | ORPHA | 1 | | 612 | 11079 | 300231 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SON CL E G H | 6651 | 617140 | ZTTK syndrome | 617140 | C4310696 | OMIM | 1 | | 1031 | 11183 | 182465 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SPTAN1 CL E G H | 6709 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2267 | 11273 | 182810 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ST3GAL3 CL E G H | 6487 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 340 | 10866 | 606494 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ST3GAL5 CL E G H | 8869 | 370938 | | | | ORPHA | 1 | | 373 | 10872 | 604402 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ST3GAL5 CL E G H | 8869 | 609056 | Amish infantile epilepsy syndrome | 609056 | C1836824 | OMIM | 1 | | 373 | 10872 | 604402 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | STXBP1 CL E G H | 6812 | 3095 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | STXBP1 CL E G H | 6812 | 612164 | Early infantile epileptic encephalopathy 4 | 612164 | C2677326 | OMIM | 1 | | 1017 | 11444 | 602926 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | STXBP1 CL E G H | 6812 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SUMF1 CL E G H | 285362 | 585 | | | | ORPHA | 1 | | 746 | 20376 | 607939 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 1 | | 1335 | 11497 | 603384 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SYNGAP1 CL E G H | 8831 | 612621 | Mental retardation, autosomal dominant 5 | 612621 | C2675473 | OMIM | 1 | | 1335 | 11497 | 603384 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 1 | | 1315 | 11503 | 604297 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 1 | | 2862 | 29040 | 615463 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TBC1D24 CL E G H | 57465 | 352596 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 893 | 29203 | 613577 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 705 | 11581 | 604649 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TBCE CL E G H | 6905 | 496756 | | | | ORPHA | 1 | | 456 | 11582 | 604934 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TK2 CL E G H | 7084 | 254875 | | | | ORPHA | 1 | | 442 | 11831 | 188250 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TPP1 CL E G H | 1200 | 204500 | Ceroid lipofuscinosis neuronal 2 | 204500 | C1876161 | OMIM | 1 | | 1023 | 2073 | 607998 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 1 | | 208 | 29947 | 608112 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TREM2 CL E G H | 54209 | 2770 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TUFM CL E G H | 7284 | 610678 | Combined oxidative phosphorylation deficiency 4 | 610678 | C1857682 | OMIM | 1 | | 323 | 12420 | 602389 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TYROBP CL E G H | 7305 | 2770 | | | | ORPHA | 1 | | 110 | 12449 | 604142 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 1 | | 223 | 23230 | 610552 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 84 | 12511 | 600673 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | VAC14 CL E G H | 55697 | 617054 | Striatonigral degeneration, childhood-onset | 617054 | C4310743 | OMIM | 1 | | 367 | 25507 | 604632 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | VPS13A CL E G H | 23230 | 2388 | | | | ORPHA | 1 | | 2362 | 1908 | 605978 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 1 | | 1102 | 12799 | 605131 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 321 | 12814 | 611153 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 788 | 12816 | 613208 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 1 | | 189 | 12852 | 605356 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ZBTB20 CL E G H | 26137 | 3042 | | | | ORPHA | 1 | | 252 | 13503 | 606025 |
HP:0002376 | HP:0033044 | Motor regression | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 1 | | | 20 | 601065 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 73 | 16066 | 617036 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 665 | 119 | 609751 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 665 | 119 | 609751 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ADA2 CL E G H | 51816 | 820 | | | | ORPHA | 1 | | 533 | 1839 | 607575 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 1122 | 225 | 146920 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 1122 | 225 | 146920 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ADPRHL2 CL E G H | 54936 | 618170 | NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES | 618170 | | OMIM | 1 | | | 21304 | 610624 |
HP:0002376 | HP:0033044 | Motor regression | 1 | AGA CL E G H | 175 | 208400 | Aspartylglucosaminuria | 208400 | C0268225 | OMIM | 1 | | 509 | 318 | 613228 |
HP:0002376 | HP:0033044 | Motor regression | 1 | AGTPBP1 CL E G H | 23287 | 618276 | 618276 | 618276 | | OMIM | 1 | | 105 | 17258 | 606830 |
HP:0002376 | HP:0033044 | Motor regression | 1 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 255 | 343 | 180960 |
HP:0002376 | HP:0033044 | Motor regression | 1 | AIFM1 CL E G H | 9131 | 238329 | | | | ORPHA | 1 | | 575 | 8768 | 300169 |
HP:0002376 | HP:0033044 | Motor regression | 1 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002376 | HP:0033044 | Motor regression | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 1 | | 690 | 567 | 602166 |
HP:0002376 | HP:0033044 | Motor regression | 1 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 197 | 20492 | 616003 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ARSA CL E G H | 410 | 309256 | | | | ORPHA | 1 | | 1140 | 713 | 607574 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ARSA CL E G H | 410 | 309263 | | | | ORPHA | 1 | | 1140 | 713 | 607574 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ARSA CL E G H | 410 | 309271 | | | | ORPHA | 1 | | 1140 | 713 | 607574 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 1 | | 89 | 29561 | 611647 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ARX CL E G H | 170302 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 810 | 18060 | 300382 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ASPA CL E G H | 443 | 271900 | Spongy degeneration of central nervous system | 271900 | C0206307 | OMIM | 1 | | 388 | 756 | 608034 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 1 | | 229 | 851 | 607027 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ATP7A CL E G H | 538 | 565 | | | | ORPHA | 1 | | 1751 | 869 | 300011 |
HP:0002376 | HP:0033044 | Motor regression | 1 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 1 | | 102 | 24415 | 613183 |
HP:0002376 | HP:0033044 | Motor regression | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0002376 | HP:0033044 | Motor regression | 1 | C12orf65 CL E G H | 91574 | 613559 | Combined oxidative phosphorylation deficiency 7 | 613559 | C3150801 | OMIM | 1 | | | 26784 | 613541 |
HP:0002376 | HP:0033044 | Motor regression | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 1 | | 3248 | 1388 | 601011 |
HP:0002376 | HP:0033044 | Motor regression | 1 | CAD CL E G H | 790 | 616457 | Epileptic encephalopathy, early infantile, 50 | 616457 | C4225320 | OMIM | 1 | | 1320 | 1424 | 114010 |
HP:0002376 | HP:0033044 | Motor regression | 1 | CDKL5 CL E G H | 6792 | 3095 | | | | ORPHA | 1 | | 1738 | 11411 | 300203 |
HP:0002376 | HP:0033044 | Motor regression | 1 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1738 | 11411 | 300203 |
HP:0002376 | HP:0033044 | Motor regression | 1 | CDKL5 CL E G H | 6792 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1738 | 11411 | 300203 |
HP:0002376 | HP:0033044 | Motor regression | 1 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0002376 | HP:0033044 | Motor regression | 1 | CHD2 CL E G H | 1106 | 615369 | Epileptic encephalopathy, childhood-onset | 615369 | C3809278 | OMIM | 1 | | 1838 | 1917 | 602119 |
HP:0002376 | HP:0033044 | Motor regression | 1 | CIC CL E G H | 23152 | 617600 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 | 617600 | C4539848 | OMIM | 1 | | 480 | 14214 | 612082 |
HP:0002376 | HP:0033044 | Motor regression | 1 | CLN5 CL E G H | 1203 | 256731 | Ceroid lipofuscinosis neuronal 5 | 256731 | C1850442 | OMIM | 1 | | 702 | 2076 | 608102 |
HP:0002376 | HP:0033044 | Motor regression | 1 | CLN8 CL E G H | 2055 | 1947 | | | | ORPHA | 1 | | 640 | 2079 | 607837 |
HP:0002376 | HP:0033044 | Motor regression | 1 | CLN8 CL E G H | 2055 | 600143 | Ceroid lipofuscinosis neuronal 8 | 600143 | C1838570 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0002376 | HP:0033044 | Motor regression | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 1 | | 645 | 2092 | 118955 |
HP:0002376 | HP:0033044 | Motor regression | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 1 | | 306 | 19701 | 300724 |
HP:0002376 | HP:0033044 | Motor regression | 1 | CNPY3 CL E G H | 10695 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 44 | 11968 | 610774 |
HP:0002376 | HP:0033044 | Motor regression | 1 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 281 | 29932 | 609855 |
HP:0002376 | HP:0033044 | Motor regression | 1 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 1 | | 699 | 16812 | 606980 |
HP:0002376 | HP:0033044 | Motor regression | 1 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0002376 | HP:0033044 | Motor regression | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 1 | | 668 | 13760 | 606323 |
HP:0002376 | HP:0033044 | Motor regression | 1 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 1 | | 940 | 2605 | 606530 |
HP:0002376 | HP:0033044 | Motor regression | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 142 | 2718 | 600811 |
HP:0002376 | HP:0033044 | Motor regression | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 1 | | 434 | 20603 | 608172 |
HP:0002376 | HP:0033044 | Motor regression | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0002376 | HP:0033044 | Motor regression | 1 | DNM1 CL E G H | 1759 | 616346 | Epileptic encephalopathy, early infantile, 31 | 616346 | C4225357 | OMIM | 1 | | 765 | 2972 | 602377 |
HP:0002376 | HP:0033044 | Motor regression | 1 | EARS2 CL E G H | 124454 | 614924 | Combined oxidative phosphorylation deficiency 12 | 614924 | C3554079 | OMIM | 1 | | 336 | 29419 | 612799 |
HP:0002376 | HP:0033044 | Motor regression | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 1 | | 575 | 3192 | 602959 |
HP:0002376 | HP:0033044 | Motor regression | 1 | EIF2B1 CL E G H | 1967 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 192 | 3257 | 606686 |
HP:0002376 | HP:0033044 | Motor regression | 1 | EIF2B2 CL E G H | 8892 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 190 | 3258 | 606454 |
HP:0002376 | HP:0033044 | Motor regression | 1 | EIF2B3 CL E G H | 8891 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 181 | 3259 | 606273 |
HP:0002376 | HP:0033044 | Motor regression | 1 | EIF2B4 CL E G H | 8890 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 233 | 3260 | 606687 |
HP:0002376 | HP:0033044 | Motor regression | 1 | EIF2B5 CL E G H | 8893 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 579 | 3261 | 603945 |
HP:0002376 | HP:0033044 | Motor regression | 1 | EPRS CL E G H | 2058 | 617951 | LEUKODYSTROPHY, HYPOMYELINATING, 15 | 617951 | CN244566 | OMIM | 1 | | | 3418 | 138295 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 523 | 3435 | 133510 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 726 | 3436 | 133520 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 338 | 23287 | 608451 |
HP:0002376 | HP:0033044 | Motor regression | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 1 | | 259 | 3668 | 601513 |
HP:0002376 | HP:0033044 | Motor regression | 1 | FGF12 CL E G H | 2257 | 617166 | Epileptic encephalopathy, early infantile, 47 | 617166 | C4310685 | OMIM | 1 | | 259 | 3668 | 601513 |
HP:0002376 | HP:0033044 | Motor regression | 1 | FOLR1 CL E G H | 2348 | 613068 | Cerebral folate deficiency | 613068 | C2751584 | OMIM | 1 | | 256 | 3791 | 136430 |
HP:0002376 | HP:0033044 | Motor regression | 1 | FOXG1 CL E G H | 2290 | 261144 | | | | ORPHA | 1 | | 725 | 3811 | 164874 |
HP:0002376 | HP:0033044 | Motor regression | 1 | FOXG1 CL E G H | 2290 | 3095 | | | | ORPHA | 1 | | 725 | 3811 | 164874 |
HP:0002376 | HP:0033044 | Motor regression | 1 | FOXG1 CL E G H | 2290 | 613454 | Rett syndrome, congenital variant | 613454 | C3150705 | OMIM | 1 | | 725 | 3811 | 164874 |
HP:0002376 | HP:0033044 | Motor regression | 1 | FRRS1L CL E G H | 23732 | 616981 | Epileptic encephalopathy, early infantile, 37 | 616981 | C4310770 | OMIM | 1 | | 402 | 1362 | 604574 |
HP:0002376 | HP:0033044 | Motor regression | 1 | GABBR2 CL E G H | 9568 | 3095 | | | | ORPHA | 1 | | 848 | 4507 | 607340 |
HP:0002376 | HP:0033044 | Motor regression | 1 | GABBR2 CL E G H | 9568 | 617903 | NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS | 617903 | CN870852 | OMIM | 1 | | 848 | 4507 | 607340 |
HP:0002376 | HP:0033044 | Motor regression | 1 | GABRB1 CL E G H | 2560 | 617153 | Epileptic encephalopathy, early infantile, 45 | 617153 | C4310691 | OMIM | 1 | | 275 | 4081 | 137190 |
HP:0002376 | HP:0033044 | Motor regression | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 1 | | 494 | 4082 | 600232 |
HP:0002376 | HP:0033044 | Motor regression | 1 | GALC CL E G H | 2581 | 245200 | Galactosylceramide beta-galactosidase deficiency | 245200 | C0023521 | OMIM | 1 | | 1185 | 4115 | 606890 |
HP:0002376 | HP:0033044 | Motor regression | 1 | GFAP CL E G H | 2670 | 203450 | Alexander's disease | 203450 | C0270726 | OMIM | 1 | | 455 | 4235 | 137780 |
HP:0002376 | HP:0033044 | Motor regression | 1 | GM2A CL E G H | 2760 | 309246 | | | | ORPHA | 1 | | 212 | 4367 | 613109 |
HP:0002376 | HP:0033044 | Motor regression | 1 | GRIN2B CL E G H | 2904 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1353 | 4586 | 138252 |
HP:0002376 | HP:0033044 | Motor regression | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 1 | | 823 | 4588 | 602717 |
HP:0002376 | HP:0033044 | Motor regression | 1 | GUF1 CL E G H | 60558 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 309 | 25799 | 617064 |
HP:0002376 | HP:0033044 | Motor regression | 1 | HACE1 CL E G H | 57531 | 616756 | Spastic paraplegia and psychomotor retardation with or without seizures | 616756 | C4225215 | OMIM | 1 | | 227 | 21033 | 610876 |
HP:0002376 | HP:0033044 | Motor regression | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 1 | | 796 | 4845 | 602780 |
HP:0002376 | HP:0033044 | Motor regression | 1 | HIBCH CL E G H | 26275 | 250620 | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 250620 | C0342738 | OMIM | 1 | | 235 | 4908 | 610690 |
HP:0002376 | HP:0033044 | Motor regression | 1 | HNRNPH2 CL E G H | 3188 | 300986 | Mental retardation, X-linked, syndromic, Bain type | 300986 | C4310814 | OMIM | 1 | | 196 | 5042 | 300610 |
HP:0002376 | HP:0033044 | Motor regression | 1 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 256 | 4800 | 300256 |
HP:0002376 | HP:0033044 | Motor regression | 1 | HTT CL E G H | 3064 | 399 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 760 | 4851 | 613004 |
HP:0002376 | HP:0033044 | Motor regression | 1 | HTT CL E G H | 3064 | 617435 | Lopes-Maciel-Rodan syndrome | 617435 | C4479491 | OMIM | 1 | | 760 | 4851 | 613004 |
HP:0002376 | HP:0033044 | Motor regression | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 271 | 27302 | 615316 |
HP:0002376 | HP:0033044 | Motor regression | 1 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 1 | | 1170 | 18873 | 606951 |
HP:0002376 | HP:0033044 | Motor regression | 1 | IRF2BPL CL E G H | 64207 | 618088 | NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES | 618088 | CN252701 | OMIM | 1 | | 312 | 14282 | 611720 |
HP:0002376 | HP:0033044 | Motor regression | 1 | IRX5 CL E G H | 10265 | 611174 | Hamamy syndrome | 611174 | C1970027 | OMIM | 1 | | 104 | 14361 | 606195 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ISCA1 CL E G H | 81689 | 617613 | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 | 617613 | C4539919 | OMIM | 1 | | 60 | 28660 | 611006 |
HP:0002376 | HP:0033044 | Motor regression | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 1 | | 401 | 6220 | 176262 |
HP:0002376 | HP:0033044 | Motor regression | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 1 | | 635 | 6231 | 600397 |
HP:0002376 | HP:0033044 | Motor regression | 1 | KCNT1 CL E G H | 57582 | 614959 | Early infantile epileptic encephalopathy 14 | 614959 | C3554195 | OMIM | 1 | | 2000 | 18865 | 608167 |
HP:0002376 | HP:0033044 | Motor regression | 1 | KCNT2 CL E G H | 343450 | 617771 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57 | 617771 | C4540411 | OMIM | 1 | | 147 | 18866 | 610044 |
HP:0002376 | HP:0033044 | Motor regression | 1 | KCTD7 CL E G H | 154881 | 263516 | | | | ORPHA | 1 | | 427 | 21957 | 611725 |
HP:0002376 | HP:0033044 | Motor regression | 1 | L2HGDH CL E G H | 79944 | 236792 | L-2-hydroxyglutaric aciduria | 236792 | C1855995 | OMIM | 1 | | 253 | 20499 | 609584 |
HP:0002376 | HP:0033044 | Motor regression | 1 | LMBRD1 CL E G H | 55788 | 79284 | | | | ORPHA | 1 | | 276 | 23038 | 612625 |
HP:0002376 | HP:0033044 | Motor regression | 1 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0002376 | HP:0033044 | Motor regression | 1 | MBTPS2 CL E G H | 51360 | 2273 | Fara Chlupackova syndrome | | | ORPHA | 1 | | 309 | 15455 | 300294 |
HP:0002376 | HP:0033044 | Motor regression | 1 | MECP2 CL E G H | 4204 | 3095 | | | | ORPHA | 1 | | 1925 | 6990 | 300005 |
HP:0002376 | HP:0033044 | Motor regression | 1 | MECP2 CL E G H | 4204 | 312750 | Rett syndrome | 312750 | C0035372 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0002376 | HP:0033044 | Motor regression | 1 | MRPS34 CL E G H | 65993 | 617664 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 | 617664 | C4540029 | OMIM | 1 | | 138 | 16618 | 611994 |
HP:0002376 | HP:0033044 | Motor regression | 1 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 1 | | | 7414 | 516060 |
HP:0002376 | HP:0033044 | Motor regression | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0002376 | HP:0033044 | Motor regression | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0002376 | HP:0033044 | Motor regression | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0002376 | HP:0033044 | Motor regression | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0002376 | HP:0033044 | Motor regression | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0002376 | HP:0033044 | Motor regression | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0002376 | HP:0033044 | Motor regression | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0002376 | HP:0033044 | Motor regression | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0002376 | HP:0033044 | Motor regression | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0002376 | HP:0033044 | Motor regression | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0002376 | HP:0033044 | Motor regression | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0002376 | HP:0033044 | Motor regression | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0002376 | HP:0033044 | Motor regression | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0002376 | HP:0033044 | Motor regression | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0002376 | HP:0033044 | Motor regression | 1 | NAGA CL E G H | 4668 | 79279 | | | | ORPHA | 1 | | 230 | 7631 | 104170 |
HP:0002376 | HP:0033044 | Motor regression | 1 | NAGA CL E G H | 4668 | 609241 | Schindler disease, type 1 | 609241 | C1836544 | OMIM | 1 | | 230 | 7631 | 104170 |
HP:0002376 | HP:0033044 | Motor regression | 1 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 146 | 18453 | 608862 |
HP:0002376 | HP:0033044 | Motor regression | 1 | NDUFS1 CL E G H | 4719 | 618226 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 | 618226 | | OMIM | 1 | | 424 | 7707 | 157655 |
HP:0002376 | HP:0033044 | Motor regression | 1 | NDUFS2 CL E G H | 4720 | 618228 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 | 618228 | | OMIM | 1 | | 247 | 7708 | 602985 |
HP:0002376 | HP:0033044 | Motor regression | 1 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 139 | 7711 | 602694 |
HP:0002376 | HP:0033044 | Motor regression | 1 | NDUFS7 CL E G H | 374291 | 618224 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | 618224 | | OMIM | 1 | | 215 | 7714 | 601825 |
HP:0002376 | HP:0033044 | Motor regression | 1 | NDUFV1 CL E G H | 4723 | 618225 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | 618225 | | OMIM | 1 | | 315 | 7716 | 161015 |
HP:0002376 | HP:0033044 | Motor regression | 1 | NDUFV2 CL E G H | 4729 | 618229 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 | 618229 | | OMIM | 1 | | 229 | 7717 | 600532 |
HP:0002376 | HP:0033044 | Motor regression | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 1 | | 221 | 24539 | 611623 |
HP:0002376 | HP:0033044 | Motor regression | 1 | NOTCH3 CL E G H | 4854 | 136 | | | | ORPHA | 1 | | 1343 | 7883 | 600276 |
HP:0002376 | HP:0033044 | Motor regression | 1 | NRXN1 CL E G H | 9378 | 614325 | Pitt-Hopkins-like syndrome 2 | 614325 | C3280479 | OMIM | 1 | | 2065 | 8008 | 600565 |
HP:0002376 | HP:0033044 | Motor regression | 1 | NTNG1 CL E G H | 22854 | 3095 | | | | ORPHA | 1 | | 57 | 23319 | 608818 |
HP:0002376 | HP:0033044 | Motor regression | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0002376 | HP:0033044 | Motor regression | 1 | NTRK2 CL E G H | 4915 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0002376 | HP:0033044 | Motor regression | 1 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 1 | | 161 | 8066 | 605815 |
HP:0002376 | HP:0033044 | Motor regression | 1 | NUP62 CL E G H | 23636 | 271930 | Striatonigral degeneration infantile | 271930 | C0795996 | OMIM | 1 | | 161 | 8066 | 605815 |
HP:0002376 | HP:0033044 | Motor regression | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 1 | | 326 | 21042 | 610463 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PCDH19 CL E G H | 57526 | 300088 | Early infantile epileptic encephalopathy 9 | 300088 | C1848137 | OMIM | 1 | | 1298 | 14270 | 300460 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PEX1 CL E G H | 5189 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 1537 | 8850 | 602136 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PEX10 CL E G H | 5192 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 803 | 8851 | 602859 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PEX11B CL E G H | 8799 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 415 | 8853 | 603867 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PEX12 CL E G H | 5193 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 459 | 8854 | 601758 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PEX13 CL E G H | 5194 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 497 | 8855 | 601789 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PEX14 CL E G H | 5195 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 474 | 8856 | 601791 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PEX16 CL E G H | 9409 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 470 | 8857 | 603360 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PEX19 CL E G H | 5824 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 379 | 9713 | 600279 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PEX2 CL E G H | 5828 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 463 | 9717 | 170993 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PEX26 CL E G H | 55670 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 522 | 22965 | 608666 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PEX3 CL E G H | 8504 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 358 | 8858 | 603164 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PEX5 CL E G H | 5830 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 858 | 9719 | 600414 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PEX6 CL E G H | 5190 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 1458 | 8859 | 601498 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PEX7 CL E G H | 5191 | 773 | | | | ORPHA | 1 | | 550 | 8860 | 601757 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PHACTR1 CL E G H | 221692 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 97 | 20990 | 608723 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PHYH CL E G H | 5264 | 773 | | | | ORPHA | 1 | | 382 | 8940 | 602026 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PIGA CL E G H | 5277 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 483 | 8957 | 311770 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PIGT CL E G H | 51604 | 615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 615398 | C3809356 | OMIM | 1 | | 277 | 14938 | 610272 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PIGY CL E G H | 84992 | 616809 | Hyperphosphatasia with mental retardation syndrome 6 | 616809 | C4225201 | OMIM | 1 | | 40 | 28213 | 610662 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PLA2G6 CL E G H | 8398 | 35069 | | | | ORPHA | 1 | | 775 | 9039 | 603604 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PLCB1 CL E G H | 23236 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1107 | 15917 | 607120 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PMPCB CL E G H | 9512 | 617954 | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 | 617954 | CN244567 | OMIM | 1 | | 133 | 9119 | 603131 |
HP:0002376 | HP:0033044 | Motor regression | 1 | POLG CL E G H | 5428 | 726 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0002376 | HP:0033044 | Motor regression | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002376 | HP:0033044 | Motor regression | 1 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 1 | | 351 | 9314 | 114105 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PPP3CA CL E G H | 5530 | 617711 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 | 617711 | C4540199 | OMIM | 1 | | 351 | 9314 | 114105 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PSAP CL E G H | 5660 | 309256 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PSAP CL E G H | 5660 | 309263 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PSAP CL E G H | 5660 | 309271 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0002376 | HP:0033044 | Motor regression | 1 | RANBP2 CL E G H | 5903 | 88619 | | | | ORPHA | 1 | | 1372 | 9848 | 601181 |
HP:0002376 | HP:0033044 | Motor regression | 1 | RHOBTB2 CL E G H | 23221 | 618004 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 | 618004 | CN248512 | OMIM | 1 | | 592 | 18756 | 607352 |
HP:0002376 | HP:0033044 | Motor regression | 1 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 1 | | 404 | 18518 | 606034 |
HP:0002376 | HP:0033044 | Motor regression | 1 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 1 | | 426 | 25671 | 610326 |
HP:0002376 | HP:0033044 | Motor regression | 1 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 1 | | 307 | 24116 | 610330 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ROGDI CL E G H | 79641 | 1946 | | | | ORPHA | 1 | | 560 | 29478 | 614574 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 1 | | 746 | 15925 | 606754 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SCN2A CL E G H | 6326 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 1 | | 1420 | 10590 | 182391 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SCN8A CL E G H | 6334 | 614558 | Early infantile epileptic encephalopathy 13 | 614558 | C3281191 | OMIM | 1 | | 1799 | 10596 | 600702 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SDHA CL E G H | 6389 | 3208 | | | | ORPHA | 1 | | 2503 | 10680 | 600857 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SDHA CL E G H | 6389 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SDHAF1 CL E G H | 644096 | 3208 | | | | ORPHA | 1 | | 77 | 33867 | 612848 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SDHAF1 CL E G H | 644096 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 77 | 33867 | 612848 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SDHB CL E G H | 6390 | 3208 | | | | ORPHA | 1 | | 1249 | 10681 | 185470 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SDHD CL E G H | 6392 | 3208 | | | | ORPHA | 1 | | 686 | 10683 | 602690 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SDHD CL E G H | 6392 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 686 | 10683 | 602690 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 400 | 21061 | 614725 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SGPL1 CL E G H | 8879 | 617575 | Nephrotic syndrome type 14 | 617575 | C4539778 | OMIM | 1 | | 218 | 10817 | 603729 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SIK1 CL E G H | 150094 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SIN3A CL E G H | 25942 | 613406 | Witteveen-kolk syndrome | 613406 | C3150674 | OMIM | 1 | | 400 | 19353 | 607776 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SLC12A5 CL E G H | 57468 | 616645 | Early infantile epileptic encephalopathy 34 | 616645 | C4225257 | OMIM | 1 | | 791 | 13818 | 606726 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 1 | | 685 | 23089 | 608305 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SLC13A5 CL E G H | 284111 | 1946 | | | | ORPHA | 1 | | 685 | 23089 | 608305 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 1 | | 359 | 10940 | 600300 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SLC29A3 CL E G H | 55315 | 1782 | | | | ORPHA | 1 | | 447 | 23096 | 612373 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SLC2A3 CL E G H | 6515 | 399 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 90 | 11007 | 138170 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SLC30A9 CL E G H | 10463 | 617595 | Birk-Landau-Perez syndrome | 617595 | C4539828 | OMIM | 1 | | 45 | 1329 | 604604 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SLC39A14 CL E G H | 23516 | 617013 | Hypermanganesemia with dystonia 2 | 617013 | C4310765 | OMIM | 1 | | 270 | 20858 | 608736 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 1 | | 809 | 11042 | 137165 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SLC9A6 CL E G H | 10479 | 85278 | | | | ORPHA | 1 | | 612 | 11079 | 300231 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SON CL E G H | 6651 | 617140 | ZTTK syndrome | 617140 | C4310696 | OMIM | 1 | | 1031 | 11183 | 182465 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SPTAN1 CL E G H | 6709 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2267 | 11273 | 182810 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ST3GAL3 CL E G H | 6487 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 340 | 10866 | 606494 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ST3GAL5 CL E G H | 8869 | 370938 | | | | ORPHA | 1 | | 373 | 10872 | 604402 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ST3GAL5 CL E G H | 8869 | 609056 | Amish infantile epilepsy syndrome | 609056 | C1836824 | OMIM | 1 | | 373 | 10872 | 604402 |
HP:0002376 | HP:0033044 | Motor regression | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0002376 | HP:0033044 | Motor regression | 1 | STXBP1 CL E G H | 6812 | 3095 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0002376 | HP:0033044 | Motor regression | 1 | STXBP1 CL E G H | 6812 | 612164 | Early infantile epileptic encephalopathy 4 | 612164 | C2677326 | OMIM | 1 | | 1017 | 11444 | 602926 |
HP:0002376 | HP:0033044 | Motor regression | 1 | STXBP1 CL E G H | 6812 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SUMF1 CL E G H | 285362 | 585 | | | | ORPHA | 1 | | 746 | 20376 | 607939 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 1 | | 1335 | 11497 | 603384 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SYNGAP1 CL E G H | 8831 | 612621 | Mental retardation, autosomal dominant 5 | 612621 | C2675473 | OMIM | 1 | | 1335 | 11497 | 603384 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 1 | | 1315 | 11503 | 604297 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 1 | | 2862 | 29040 | 615463 |
HP:0002376 | HP:0033044 | Motor regression | 1 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0002376 | HP:0033044 | Motor regression | 1 | TBC1D24 CL E G H | 57465 | 352596 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0002376 | HP:0033044 | Motor regression | 1 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 893 | 29203 | 613577 |
HP:0002376 | HP:0033044 | Motor regression | 1 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 705 | 11581 | 604649 |
HP:0002376 | HP:0033044 | Motor regression | 1 | TBCE CL E G H | 6905 | 496756 | | | | ORPHA | 1 | | 456 | 11582 | 604934 |
HP:0002376 | HP:0033044 | Motor regression | 1 | TK2 CL E G H | 7084 | 254875 | | | | ORPHA | 1 | | 442 | 11831 | 188250 |
HP:0002376 | HP:0033044 | Motor regression | 1 | TPP1 CL E G H | 1200 | 204500 | Ceroid lipofuscinosis neuronal 2 | 204500 | C1876161 | OMIM | 1 | | 1023 | 2073 | 607998 |
HP:0002376 | HP:0033044 | Motor regression | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 1 | | 208 | 29947 | 608112 |
HP:0002376 | HP:0033044 | Motor regression | 1 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0002376 | HP:0033044 | Motor regression | 1 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0002376 | HP:0033044 | Motor regression | 1 | TREM2 CL E G H | 54209 | 2770 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002376 | HP:0033044 | Motor regression | 1 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0002376 | HP:0033044 | Motor regression | 1 | TUFM CL E G H | 7284 | 610678 | Combined oxidative phosphorylation deficiency 4 | 610678 | C1857682 | OMIM | 1 | | 323 | 12420 | 602389 |
HP:0002376 | HP:0033044 | Motor regression | 1 | TYROBP CL E G H | 7305 | 2770 | | | | ORPHA | 1 | | 110 | 12449 | 604142 |
HP:0002376 | HP:0033044 | Motor regression | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 1 | | 223 | 23230 | 610552 |
HP:0002376 | HP:0033044 | Motor regression | 1 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 84 | 12511 | 600673 |
HP:0002376 | HP:0033044 | Motor regression | 1 | VAC14 CL E G H | 55697 | 617054 | Striatonigral degeneration, childhood-onset | 617054 | C4310743 | OMIM | 1 | | 367 | 25507 | 604632 |
HP:0002376 | HP:0033044 | Motor regression | 1 | VPS13A CL E G H | 23230 | 2388 | | | | ORPHA | 1 | | 2362 | 1908 | 605978 |
HP:0002376 | HP:0033044 | Motor regression | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 1 | | 1102 | 12799 | 605131 |
HP:0002376 | HP:0033044 | Motor regression | 1 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 321 | 12814 | 611153 |
HP:0002376 | HP:0033044 | Motor regression | 1 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 788 | 12816 | 613208 |
HP:0002376 | HP:0033044 | Motor regression | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 1 | | 189 | 12852 | 605356 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ZBTB20 CL E G H | 26137 | 3042 | | | | ORPHA | 1 | | 252 | 13503 | 606025 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002376 | HP:0002376 | Developmental regression | 0 | AAAS CL E G H | 8086 | 869 | | | | ORPHA | 0 | | 217 | 13666 | 605378 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 0 | | 1122 | 225 | 146920 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 249 | 961 | 605681 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | C4A CL E G H | 720 | 117 | | | | ORPHA | 0 | | 53 | 1323 | 120810 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CCR1 CL E G H | 1230 | 117 | | | | ORPHA | 0 | | 31 | 1602 | 601159 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 71 | 24212 | 611507 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CLIP2 CL E G H | 7461 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 229 | 2586 | 603432 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 0 | | 585 | 30664 | 616254 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 0 | | 142 | 30528 | 608977 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ELN CL E G H | 2006 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 966 | 3327 | 130160 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 0 | | 744 | 11529 | 185535 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ERAP1 CL E G H | 51752 | 117 | | | | ORPHA | 0 | | 175 | 18173 | 606832 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 0 | | 482 | 29170 | 613534 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FAS CL E G H | 355 | 117 | | | | ORPHA | 0 | | 387 | 11920 | 134637 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FTL CL E G H | 2512 | 157846 | | | | ORPHA | 0 | | 185 | 3999 | 134790 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GCDH CL E G H | 2639 | 25 | | | | ORPHA | 0 | | 720 | 4189 | 608801 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 0 | | 1099 | 4296 | 300644 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GLRX5 CL E G H | 51218 | 401866 | | | | ORPHA | 0 | | 111 | 20134 | 609588 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GMPPA CL E G H | 29926 | 869 | | | | ORPHA | 0 | | 150 | 22923 | 615495 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GNB1 CL E G H | 2782 | 488613 | | | | ORPHA | 0 | | 382 | 4396 | 139380 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GTF2I CL E G H | 2969 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 178 | 4659 | 601679 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GTF2IRD1 CL E G H | 9569 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 266 | 4661 | 604318 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | HLA-B CL E G H | 3106 | 117 | | | | ORPHA | 0 | | 29 | 4932 | 142830 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | IFIH1 CL E G H | 64135 | 615846 | Aicardi-Goutieres syndrome 7 | 615846 | C3888244 | OMIM | 0 | | 1170 | 18873 | 606951 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | IL10 CL E G H | 3586 | 117 | | | | ORPHA | 0 | | 123 | 5962 | 124092 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | IL12A CL E G H | 3592 | 117 | | | | ORPHA | 0 | | 34 | 5969 | 161560 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | IL12A-AS1 CL E G H | 101928376 | 117 | | | | ORPHA | 0 | | 18 | 49094 | 0 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | IL23R CL E G H | 149233 | 117 | | | | ORPHA | 0 | | 241 | 19100 | 607562 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | KLRC4 CL E G H | 8302 | 117 | | | | ORPHA | 0 | | 44 | 6377 | 602893 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | LIMK1 CL E G H | 3984 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 232 | 6613 | 601329 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | LYST CL E G H | 1130 | 167 | | | | ORPHA | 0 | | 2575 | 1968 | 606897 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MECP2 CL E G H | 4204 | 778 | | | | ORPHA | 0 | | 1925 | 6990 | 300005 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MEFV CL E G H | 4210 | 117 | | | | ORPHA | 0 | | 1083 | 6998 | 608107 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 0 | | 5122 | 7127 | 120436 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 0 | | 2210 | 7128 | 604395 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 0 | | 6856 | 7325 | 609309 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 0 | | 8438 | 7329 | 600678 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 0 | | 299 | 7678 | 300658 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NDUFAF6 CL E G H | 137682 | 618239 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 | 618239 | | OMIM | 0 | | 281 | 28625 | 612392 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 0 | | 1159 | 8975 | 171834 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 0 | | 125 | 9121 | 600258 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 0 | | 4719 | 9122 | 600259 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | POC1A CL E G H | 25886 | 614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | C3542022 | OMIM | 0 | | 156 | 24488 | 614783 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | RFC2 CL E G H | 5982 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 200 | 9970 | 600404 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ROGDI CL E G H | 79641 | 226750 | Kohlschutter's syndrome | 226750 | C0406740 | OMIM | 0 | | 560 | 29478 | 614574 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SLC1A2 CL E G H | 6506 | 617105 | Epileptic encephalopathy, early infantile, 41 | 617105 | C4310717 | OMIM | 0 | | 359 | 10940 | 600300 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SON CL E G H | 6651 | 500150 | | | | ORPHA | 0 | | 1031 | 11183 | 182465 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | STAT4 CL E G H | 6775 | 117 | | | | ORPHA | 0 | | 307 | 11365 | 600558 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TBCK CL E G H | 93627 | 616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 616900 | C4225161 | OMIM | 0 | | 722 | 28261 | 616899 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TBL2 CL E G H | 26608 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 194 | 11586 | 605842 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 0 | | 948 | 11773 | 190182 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TLR4 CL E G H | 7099 | 117 | | | | ORPHA | 0 | | 83 | 11850 | 603030 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TRAPPC11 CL E G H | 60684 | 869 | | | | ORPHA | 0 | | 983 | 25751 | 614138 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | UBAC2 CL E G H | 337867 | 117 | | | | ORPHA | 0 | | 126 | 20486 | 0 |
HP:0002376 | HP:0002376 | Developmental regression | 0 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1634 | 12762 | 606201 |
HP:0002376 | HP:0033044 | Motor regression | 1 | AAAS CL E G H | 8086 | 869 | | | | ORPHA | 0 | | 217 | 13666 | 605378 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 0 | | 1122 | 225 | 146920 |
HP:0002376 | HP:0033044 | Motor regression | 1 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 249 | 961 | 605681 |
HP:0002376 | HP:0033044 | Motor regression | 1 | C4A CL E G H | 720 | 117 | | | | ORPHA | 0 | | 53 | 1323 | 120810 |
HP:0002376 | HP:0033044 | Motor regression | 1 | CCR1 CL E G H | 1230 | 117 | | | | ORPHA | 0 | | 31 | 1602 | 601159 |
HP:0002376 | HP:0033044 | Motor regression | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 71 | 24212 | 611507 |
HP:0002376 | HP:0033044 | Motor regression | 1 | CLIP2 CL E G H | 7461 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 229 | 2586 | 603432 |
HP:0002376 | HP:0033044 | Motor regression | 1 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 0 | | 585 | 30664 | 616254 |
HP:0002376 | HP:0033044 | Motor regression | 1 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 0 | | 142 | 30528 | 608977 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ELN CL E G H | 2006 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 966 | 3327 | 130160 |
HP:0002376 | HP:0033044 | Motor regression | 1 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 0 | | 744 | 11529 | 185535 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ERAP1 CL E G H | 51752 | 117 | | | | ORPHA | 0 | | 175 | 18173 | 606832 |
HP:0002376 | HP:0033044 | Motor regression | 1 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 0 | | 482 | 29170 | 613534 |
HP:0002376 | HP:0033044 | Motor regression | 1 | FAS CL E G H | 355 | 117 | | | | ORPHA | 0 | | 387 | 11920 | 134637 |
HP:0002376 | HP:0033044 | Motor regression | 1 | FTL CL E G H | 2512 | 157846 | | | | ORPHA | 0 | | 185 | 3999 | 134790 |
HP:0002376 | HP:0033044 | Motor regression | 1 | GCDH CL E G H | 2639 | 25 | | | | ORPHA | 0 | | 720 | 4189 | 608801 |
HP:0002376 | HP:0033044 | Motor regression | 1 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 0 | | 1099 | 4296 | 300644 |
HP:0002376 | HP:0033044 | Motor regression | 1 | GLRX5 CL E G H | 51218 | 401866 | | | | ORPHA | 0 | | 111 | 20134 | 609588 |
HP:0002376 | HP:0033044 | Motor regression | 1 | GMPPA CL E G H | 29926 | 869 | | | | ORPHA | 0 | | 150 | 22923 | 615495 |
HP:0002376 | HP:0033044 | Motor regression | 1 | GNB1 CL E G H | 2782 | 488613 | | | | ORPHA | 0 | | 382 | 4396 | 139380 |
HP:0002376 | HP:0033044 | Motor regression | 1 | GTF2I CL E G H | 2969 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 178 | 4659 | 601679 |
HP:0002376 | HP:0033044 | Motor regression | 1 | GTF2IRD1 CL E G H | 9569 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 266 | 4661 | 604318 |
HP:0002376 | HP:0033044 | Motor regression | 1 | HLA-B CL E G H | 3106 | 117 | | | | ORPHA | 0 | | 29 | 4932 | 142830 |
HP:0002376 | HP:0033044 | Motor regression | 1 | IFIH1 CL E G H | 64135 | 615846 | Aicardi-Goutieres syndrome 7 | 615846 | C3888244 | OMIM | 0 | | 1170 | 18873 | 606951 |
HP:0002376 | HP:0033044 | Motor regression | 1 | IL10 CL E G H | 3586 | 117 | | | | ORPHA | 0 | | 123 | 5962 | 124092 |
HP:0002376 | HP:0033044 | Motor regression | 1 | IL12A CL E G H | 3592 | 117 | | | | ORPHA | 0 | | 34 | 5969 | 161560 |
HP:0002376 | HP:0033044 | Motor regression | 1 | IL12A-AS1 CL E G H | 101928376 | 117 | | | | ORPHA | 0 | | 18 | 49094 | 0 |
HP:0002376 | HP:0033044 | Motor regression | 1 | IL23R CL E G H | 149233 | 117 | | | | ORPHA | 0 | | 241 | 19100 | 607562 |
HP:0002376 | HP:0033044 | Motor regression | 1 | KLRC4 CL E G H | 8302 | 117 | | | | ORPHA | 0 | | 44 | 6377 | 602893 |
HP:0002376 | HP:0033044 | Motor regression | 1 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0002376 | HP:0033044 | Motor regression | 1 | LIMK1 CL E G H | 3984 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 232 | 6613 | 601329 |
HP:0002376 | HP:0033044 | Motor regression | 1 | LYST CL E G H | 1130 | 167 | | | | ORPHA | 0 | | 2575 | 1968 | 606897 |
HP:0002376 | HP:0033044 | Motor regression | 1 | MECP2 CL E G H | 4204 | 778 | | | | ORPHA | 0 | | 1925 | 6990 | 300005 |
HP:0002376 | HP:0033044 | Motor regression | 1 | MEFV CL E G H | 4210 | 117 | | | | ORPHA | 0 | | 1083 | 6998 | 608107 |
HP:0002376 | HP:0033044 | Motor regression | 1 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 0 | | 5122 | 7127 | 120436 |
HP:0002376 | HP:0033044 | Motor regression | 1 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 0 | | 2210 | 7128 | 604395 |
HP:0002376 | HP:0033044 | Motor regression | 1 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 0 | | 6856 | 7325 | 609309 |
HP:0002376 | HP:0033044 | Motor regression | 1 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 0 | | 8438 | 7329 | 600678 |
HP:0002376 | HP:0033044 | Motor regression | 1 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 0 | | 299 | 7678 | 300658 |
HP:0002376 | HP:0033044 | Motor regression | 1 | NDUFAF6 CL E G H | 137682 | 618239 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 | 618239 | | OMIM | 0 | | 281 | 28625 | 612392 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 0 | | 1159 | 8975 | 171834 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 0 | | 125 | 9121 | 600258 |
HP:0002376 | HP:0033044 | Motor regression | 1 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 0 | | 4719 | 9122 | 600259 |
HP:0002376 | HP:0033044 | Motor regression | 1 | POC1A CL E G H | 25886 | 614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | C3542022 | OMIM | 0 | | 156 | 24488 | 614783 |
HP:0002376 | HP:0033044 | Motor regression | 1 | RFC2 CL E G H | 5982 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 200 | 9970 | 600404 |
HP:0002376 | HP:0033044 | Motor regression | 1 | ROGDI CL E G H | 79641 | 226750 | Kohlschutter's syndrome | 226750 | C0406740 | OMIM | 0 | | 560 | 29478 | 614574 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SLC1A2 CL E G H | 6506 | 617105 | Epileptic encephalopathy, early infantile, 41 | 617105 | C4310717 | OMIM | 0 | | 359 | 10940 | 600300 |
HP:0002376 | HP:0033044 | Motor regression | 1 | SON CL E G H | 6651 | 500150 | | | | ORPHA | 0 | | 1031 | 11183 | 182465 |
HP:0002376 | HP:0033044 | Motor regression | 1 | STAT4 CL E G H | 6775 | 117 | | | | ORPHA | 0 | | 307 | 11365 | 600558 |
HP:0002376 | HP:0033044 | Motor regression | 1 | TBCK CL E G H | 93627 | 616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 616900 | C4225161 | OMIM | 0 | | 722 | 28261 | 616899 |
HP:0002376 | HP:0033044 | Motor regression | 1 | TBL2 CL E G H | 26608 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 194 | 11586 | 605842 |
HP:0002376 | HP:0033044 | Motor regression | 1 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 0 | | 948 | 11773 | 190182 |
HP:0002376 | HP:0033044 | Motor regression | 1 | TLR4 CL E G H | 7099 | 117 | | | | ORPHA | 0 | | 83 | 11850 | 603030 |
HP:0002376 | HP:0033044 | Motor regression | 1 | TRAPPC11 CL E G H | 60684 | 869 | | | | ORPHA | 0 | | 983 | 25751 | 614138 |
HP:0002376 | HP:0033044 | Motor regression | 1 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0002376 | HP:0033044 | Motor regression | 1 | UBAC2 CL E G H | 337867 | 117 | | | | ORPHA | 0 | | 126 | 20486 | 0 |
HP:0002376 | HP:0033044 | Motor regression | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1634 | 12762 | 606201 |