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:0002465 | HP:0002465 | Poor speech | 0 | ADD3 CL E G H | 120 | 617008 | Cerebral palsy, spastic quadriplegic, 3 | 617008 | C4310767 | OMIM | 1 | | 117 | 245 | 601568 |
HP:0002465 | HP:0002465 | Poor speech | 0 | ADK CL E G H | 132 | 614300 | Hypermethioninemia due to adenosine kinase deficiency | 614300 | C3280381 | OMIM | 1 | | 90 | 257 | 102750 |
HP:0002465 | HP:0002465 | Poor speech | 0 | ADPRHL2 CL E G H | 54936 | 618170 | NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES | 618170 | | OMIM | 1 | | | 21304 | 610624 |
HP:0002465 | HP:0002465 | Poor speech | 0 | ALG9 CL E G H | 79796 | 608776 | ALG9 congenital disorder of glycosylation | 608776 | C2931006 | OMIM | 1 | | 236 | 15672 | 606941 |
HP:0002465 | HP:0002465 | Poor speech | 0 | AP1S2 CL E G H | 8905 | 85335 | | | | ORPHA | 1 | | 218 | 560 | 300629 |
HP:0002465 | HP:0002465 | Poor speech | 0 | AP4B1 CL E G H | 10717 | 280763 | | | | ORPHA | 1 | | 300 | 572 | 607245 |
HP:0002465 | HP:0002465 | Poor speech | 0 | AP4E1 CL E G H | 23431 | 280763 | | | | ORPHA | 1 | | 377 | 573 | 607244 |
HP:0002465 | HP:0002465 | Poor speech | 0 | AP4M1 CL E G H | 9179 | 280763 | | | | ORPHA | 1 | | 311 | 574 | 602296 |
HP:0002465 | HP:0002465 | Poor speech | 0 | AP4S1 CL E G H | 11154 | 280763 | | | | ORPHA | 1 | | 122 | 575 | 607243 |
HP:0002465 | HP:0002465 | Poor speech | 0 | APC2 CL E G H | 10297 | 617169 | Sotos syndrome 3 | 617169 | C4310684 | OMIM | 1 | | 235 | 24036 | 612034 |
HP:0002465 | HP:0002465 | Poor speech | 0 | ATAD3A CL E G H | 55210 | 496790 | | | | ORPHA | 1 | | 292 | 25567 | 612316 |
HP:0002465 | HP:0002465 | Poor speech | 0 | ATP6V0A2 CL E G H | 23545 | 357074 | | | | ORPHA | 1 | | 484 | 18481 | 611716 |
HP:0002465 | HP:0002465 | Poor speech | 0 | ATP6V1A CL E G H | 523 | 357074 | | | | ORPHA | 1 | | 123 | 851 | 607027 |
HP:0002465 | HP:0002465 | Poor speech | 0 | ATP6V1E1 CL E G H | 529 | 357074 | | | | ORPHA | 1 | | 172 | 857 | 108746 |
HP:0002465 | HP:0002465 | Poor speech | 0 | C9orf72 CL E G H | 203228 | 275864 | | | | ORPHA | 1 | | 173 | 28337 | 614260 |
HP:0002465 | HP:0002465 | Poor speech | 0 | CAD CL E G H | 790 | 616457 | Epileptic encephalopathy, early infantile, 50 | 616457 | C4225320 | OMIM | 1 | | 879 | 1424 | 114010 |
HP:0002465 | HP:0002465 | Poor speech | 0 | CCDC22 CL E G H | 28952 | 300963 | Ritscher-schinzel syndrome 2 | 300963 | C4225419 | OMIM | 1 | | 252 | 28909 | 300859 |
HP:0002465 | HP:0002465 | Poor speech | 0 | CHKB CL E G H | 1120 | 602541 | Muscular dystrophy, congenital, megaconial type | 602541 | C1865233 | OMIM | 1 | | 419 | 1938 | 612395 |
HP:0002465 | HP:0002465 | Poor speech | 0 | CHMP1A CL E G H | 5119 | 614961 | Pontocerebellar hypoplasia type 8 | 614961 | C3554209 | OMIM | 1 | | 188 | 8740 | 164010 |
HP:0002465 | HP:0002465 | Poor speech | 0 | CHMP2B CL E G H | 25978 | 275864 | | | | ORPHA | 1 | | 141 | 24537 | 609512 |
HP:0002465 | HP:0002465 | Poor speech | 0 | CIC CL E G H | 23152 | 617600 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 | 617600 | C4539848 | OMIM | 1 | | 258 | 14214 | 612082 |
HP:0002465 | HP:0002465 | Poor speech | 0 | CNNM2 CL E G H | 54805 | 34527 | | | | ORPHA | 1 | | 218 | 103 | 607803 |
HP:0002465 | HP:0002465 | Poor speech | 0 | CNTNAP2 CL E G H | 26047 | 610042 | Pitt-Hopkins-like syndrome 1 | 610042 | C2750246 | OMIM | 1 | | 1634 | 13830 | 604569 |
HP:0002465 | HP:0002465 | Poor speech | 0 | DIAPH1 CL E G H | 1729 | 616632 | Seizures, cortical blindness, and microcephaly syndrome | 616632 | C4225261 | OMIM | 1 | | 939 | 2876 | 602121 |
HP:0002465 | HP:0002465 | Poor speech | 0 | DLAT CL E G H | 1737 | 245348 | Pyruvate dehydrogenase E2 deficiency | 245348 | C1855565 | OMIM | 1 | | 237 | 2896 | 608770 |
HP:0002465 | HP:0002465 | Poor speech | 0 | EGF CL E G H | 1950 | 34527 | | | | ORPHA | 1 | | 316 | 3229 | 131530 |
HP:0002465 | HP:0002465 | Poor speech | 0 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 1 | | 190 | 3267 | 300161 |
HP:0002465 | HP:0002465 | Poor speech | 0 | EXT2 CL E G H | 2132 | 616682 | Seizures, scoliosis, and macrocephaly syndrome | 616682 | C4225248 | OMIM | 1 | | 532 | 3513 | 608210 |
HP:0002465 | HP:0002465 | Poor speech | 0 | FGF12 CL E G H | 2257 | 617166 | Epileptic encephalopathy, early infantile, 47 | 617166 | C4310685 | OMIM | 1 | | 210 | 3668 | 601513 |
HP:0002465 | HP:0002465 | Poor speech | 0 | FMN2 CL E G H | 56776 | 616193 | Mental retardation, autosomal recessive 47 | 616193 | C4015444 | OMIM | 1 | | 218 | 14074 | 606373 |
HP:0002465 | HP:0002465 | Poor speech | 0 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 255 | 26927 | 613622 |
HP:0002465 | HP:0002465 | Poor speech | 0 | GABRD CL E G H | 2563 | 1606 | | | | ORPHA | 1 | | 397 | 4084 | 137163 |
HP:0002465 | HP:0002465 | Poor speech | 0 | GATA4 CL E G H | 2626 | 251071 | | | | ORPHA | 1 | | 630 | 4173 | 600576 |
HP:0002465 | HP:0002465 | Poor speech | 0 | GATAD2B CL E G H | 57459 | 615074 | Mental retardation, autosomal dominant 18 | 615074 | C3554448 | OMIM | 1 | | 291 | 30778 | 614998 |
HP:0002465 | HP:0002465 | Poor speech | 0 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0002465 | HP:0002465 | Poor speech | 0 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 353 | 4446 | 603048 |
HP:0002465 | HP:0002465 | Poor speech | 0 | GPR88 CL E G H | 54112 | 616939 | Chorea, childhood-onset, with psychomotor retardation | 616939 | C4310787 | OMIM | 1 | | 40 | 4539 | 607468 |
HP:0002465 | HP:0002465 | Poor speech | 0 | GRID2 CL E G H | 2895 | 616204 | Spinocerebellar ataxia, autosomal recessive 18 | 616204 | C4015505 | OMIM | 1 | | 158 | 4576 | 602368 |
HP:0002465 | HP:0002465 | Poor speech | 0 | GRN CL E G H | 2896 | 275864 | | | | ORPHA | 1 | | 417 | 4601 | 138945 |
HP:0002465 | HP:0002465 | Poor speech | 0 | GUSB CL E G H | 2990 | 253220 | Mucopolysaccharidosis type VII | 253220 | C0085132 | OMIM | 1 | | 277 | 4696 | 611499 |
HP:0002465 | HP:0002465 | Poor speech | 0 | HDAC8 CL E G H | 55869 | 3459 | | | | ORPHA | 1 | | 322 | 13315 | 300269 |
HP:0002465 | HP:0002465 | Poor speech | 0 | HNRNPK CL E G H | 3190 | 616580 | AU-KLINE SYNDROME | 616580 | C4225274 | OMIM | 1 | | 129 | 5044 | 600712 |
HP:0002465 | HP:0002465 | Poor speech | 0 | IQSEC2 CL E G H | 23096 | 309530 | Mental retardation, X-linked 1 | 309530 | C2931498 | OMIM | 1 | | 955 | 29059 | 300522 |
HP:0002465 | HP:0002465 | Poor speech | 0 | KANSL1 CL E G H | 284058 | 610443 | Koolen-de Vries syndrome | 610443 | C1864871 | OMIM | 1 | | 1218 | 24565 | 612452 |
HP:0002465 | HP:0002465 | Poor speech | 0 | KAT6A CL E G H | 7994 | 457193 | | | | ORPHA | 1 | | 545 | 13013 | 601408 |
HP:0002465 | HP:0002465 | Poor speech | 0 | KCNAB2 CL E G H | 8514 | 1606 | | | | ORPHA | 1 | | 91 | 6229 | 601142 |
HP:0002465 | HP:0002465 | Poor speech | 0 | KCNMA1 CL E G H | 3778 | 617643 | CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | 617643 | C4539985 | OMIM | 1 | | 868 | 6284 | 600150 |
HP:0002465 | HP:0002465 | Poor speech | 0 | KIF14 CL E G H | 9928 | 617914 | MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE | 617914 | CN895593 | OMIM | 1 | | 176 | 19181 | 611279 |
HP:0002465 | HP:0002465 | Poor speech | 0 | KIF4A CL E G H | 24137 | 300923 | Mental retardation, X-linked 100 | 300923 | C3890167 | OMIM | 1 | | 184 | 13339 | 300521 |
HP:0002465 | HP:0002465 | Poor speech | 0 | LAS1L CL E G H | 81887 | 3459 | | | | ORPHA | 1 | | 243 | 25726 | 300964 |
HP:0002465 | HP:0002465 | Poor speech | 0 | LINS1 CL E G H | 55180 | 614340 | Mental retardation, autosomal recessive 27 | 614340 | C3280538 | OMIM | 1 | | 255 | 30922 | 610350 |
HP:0002465 | HP:0002465 | Poor speech | 0 | MAPT CL E G H | 4137 | 275864 | | | | ORPHA | 1 | | 514 | 6893 | 157140 |
HP:0002465 | HP:0002465 | Poor speech | 0 | MED13L CL E G H | 23389 | 616789 | Mental retardation and distinctive facial features with or without cardiac defects | 616789 | C4225208 | OMIM | 1 | | 704 | 22962 | 608771 |
HP:0002465 | HP:0002465 | Poor speech | 0 | MID2 CL E G H | 11043 | 300928 | Mental retardation, X-linked 101 | 300928 | C3890168 | OMIM | 1 | | 195 | 7096 | 300204 |
HP:0002465 | HP:0002465 | Poor speech | 0 | MRPS2 CL E G H | 51116 | 617950 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 | 617950 | CN244569 | OMIM | 1 | | 69 | 14495 | 611971 |
HP:0002465 | HP:0002465 | Poor speech | 0 | MTO1 CL E G H | 25821 | 614702 | Combined oxidative phosphorylation deficiency 10 | 614702 | C3553529 | OMIM | 1 | | 441 | 19261 | 614667 |
HP:0002465 | HP:0002465 | Poor speech | 0 | NALCN CL E G H | 259232 | 615419 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 615419 | C3809454 | OMIM | 1 | | 653 | 19082 | 611549 |
HP:0002465 | HP:0002465 | Poor speech | 0 | NDST1 CL E G H | 3340 | 616116 | Mental retardation, autosomal recessive 46 | 616116 | C4015283 | OMIM | 1 | | 125 | 7680 | 600853 |
HP:0002465 | HP:0002465 | Poor speech | 0 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 21 | 17194 | 609435 |
HP:0002465 | HP:0002465 | Poor speech | 0 | NDUFA6 CL E G H | 4700 | 618253 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 | 618253 | | OMIM | 1 | | 56 | 7690 | 602138 |
HP:0002465 | HP:0002465 | Poor speech | 0 | NDUFS1 CL E G H | 4719 | 618226 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 | 618226 | | OMIM | 1 | | 332 | 7707 | 157655 |
HP:0002465 | HP:0002465 | Poor speech | 0 | NUBPL CL E G H | 80224 | 618242 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 | 618242 | | OMIM | 1 | | 237 | 20278 | 613621 |
HP:0002465 | HP:0002465 | Poor speech | 0 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 1 | | 43 | 8590 | 602590 |
HP:0002465 | HP:0002465 | Poor speech | 0 | PIGC CL E G H | 5279 | 617816 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 | 617816 | C4540521 | OMIM | 1 | | 52 | 8960 | 601730 |
HP:0002465 | HP:0002465 | Poor speech | 0 | PIGH CL E G H | 5283 | 618010 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 | 618010 | CN248527 | OMIM | 1 | | 18 | 8964 | 600154 |
HP:0002465 | HP:0002465 | Poor speech | 0 | PLPBP CL E G H | 11212 | 617290 | Epilepsy, early-onset, vitamin b6-dependent | 617290 | C4310632 | OMIM | 1 | | 90 | 9457 | 604436 |
HP:0002465 | HP:0002465 | Poor speech | 0 | POMK CL E G H | 84197 | 615249 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | 615249 | C3808964 | OMIM | 1 | | 244 | 26267 | 615247 |
HP:0002465 | HP:0002465 | Poor speech | 0 | PRDM16 CL E G H | 63976 | 1606 | | | | ORPHA | 1 | | 1081 | 14000 | 605557 |
HP:0002465 | HP:0002465 | Poor speech | 0 | PSEN1 CL E G H | 5663 | 275864 | | | | ORPHA | 1 | | 452 | 9508 | 104311 |
HP:0002465 | HP:0002465 | Poor speech | 0 | RAB39B CL E G H | 116442 | 311510 | Parkinsonism, early onset with mental retardation | 311510 | C0796195 | OMIM | 1 | | 307 | 16499 | 300774 |
HP:0002465 | HP:0002465 | Poor speech | 0 | RERE CL E G H | 473 | 1606 | | | | ORPHA | 1 | | 343 | 9965 | 605226 |
HP:0002465 | HP:0002465 | Poor speech | 0 | RLIM CL E G H | 51132 | 300978 | Mental retardation, X-linked 61 | 300978 | C4283894 | OMIM | 1 | | 187 | 13429 | 300379 |
HP:0002465 | HP:0002465 | Poor speech | 0 | RNASET2 CL E G H | 8635 | 612951 | Leukoencephalopathy, cystic, without megalencephaly | 612951 | C2751843 | OMIM | 1 | | 148 | 21686 | 612944 |
HP:0002465 | HP:0002465 | Poor speech | 0 | SASS6 CL E G H | 163786 | 616402 | Primary autosomal recessive microcephaly 14 | 616402 | C4225338 | OMIM | 1 | | 80 | 25403 | 609321 |
HP:0002465 | HP:0002465 | Poor speech | 0 | SET CL E G H | 6418 | 618106 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 | 618106 | CN253713 | OMIM | 1 | | 93 | 10760 | 600960 |
HP:0002465 | HP:0002465 | Poor speech | 0 | SKI CL E G H | 6497 | 1606 | | | | ORPHA | 1 | | 910 | 10896 | 164780 |
HP:0002465 | HP:0002465 | Poor speech | 0 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 108 | 11021 | 605634 |
HP:0002465 | HP:0002465 | Poor speech | 0 | SMARCA2 CL E G H | 6595 | 601358 | Nicolaides-Baraitser syndrome | 601358 | C1303073 | OMIM | 1 | | 886 | 11098 | 600014 |
HP:0002465 | HP:0002465 | Poor speech | 0 | SMC1A CL E G H | 8243 | 300590 | Congenital muscular hypertrophy-cerebral syndrome | 300590 | C1802395 | OMIM | 1 | | 798 | 11111 | 300040 |
HP:0002465 | HP:0002465 | Poor speech | 0 | SMC3 CL E G H | 9126 | 610759 | Cornelia de Lange syndrome 3 | 610759 | C1853099 | OMIM | 1 | | 358 | 2468 | 606062 |
HP:0002465 | HP:0002465 | Poor speech | 0 | SNAP25 CL E G H | 6616 | 616330 | Myasthenic syndrome, congenital, 18 | 616330 | C4225364 | OMIM | 1 | | 191 | 11132 | 600322 |
HP:0002465 | HP:0002465 | Poor speech | 0 | SOBP CL E G H | 55084 | 613671 | Mental retardation, anterior maxillary protrusion, and strabismus | 613671 | C3150924 | OMIM | 1 | | 89 | 29256 | 613667 |
HP:0002465 | HP:0002465 | Poor speech | 0 | SQSTM1 CL E G H | 8878 | 275864 | | | | ORPHA | 1 | | 542 | 11280 | 601530 |
HP:0002465 | HP:0002465 | Poor speech | 0 | TAF2 CL E G H | 6873 | 615599 | Mental retardation, autosomal recessive 40 | 615599 | C3810080 | OMIM | 1 | | 169 | 11536 | 604912 |
HP:0002465 | HP:0002465 | Poor speech | 0 | TAF6 CL E G H | 6878 | 617126 | Alazami-Yuan syndrome | 617126 | C4310702 | OMIM | 1 | | 87 | 11540 | 602955 |
HP:0002465 | HP:0002465 | Poor speech | 0 | TBCK CL E G H | 93627 | 616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 616900 | C4225161 | OMIM | 1 | | 482 | 28261 | 616899 |
HP:0002465 | HP:0002465 | Poor speech | 0 | TMEM106B CL E G H | 54664 | 275864 | | | | ORPHA | 1 | | 87 | 22407 | 613413 |
HP:0002465 | HP:0002465 | Poor speech | 0 | TRAPPC11 CL E G H | 60684 | 615356 | Limb-girdle muscular dystrophy, type 2S | 615356 | C3809236 | OMIM | 1 | | 774 | 25751 | 614138 |
HP:0002465 | HP:0002465 | Poor speech | 0 | TREM2 CL E G H | 54209 | 275864 | | | | ORPHA | 1 | | 110 | 17761 | 605086 |
HP:0002465 | HP:0002465 | Poor speech | 0 | TRIO CL E G H | 7204 | 617061 | Mental retardation, autosomal dominant 44 | 617061 | C4310740 | OMIM | 1 | | 930 | 12303 | 601893 |
HP:0002465 | HP:0002465 | Poor speech | 0 | TRMT5 CL E G H | 57570 | 616539 | Combined oxidative phosphorylation deficiency 26 | 616539 | C4225290 | OMIM | 1 | | 98 | 23141 | 611023 |
HP:0002465 | HP:0002465 | Poor speech | 0 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 1 | | 247 | 20772 | 602661 |
HP:0002465 | HP:0002465 | Poor speech | 0 | TUBB4A CL E G H | 10382 | 612438 | Leukodystrophy, hypomyelinating, 6 | 612438 | C2676244 | OMIM | 1 | | 219 | 20774 | 602662 |
HP:0002465 | HP:0002465 | Poor speech | 0 | UBE2A CL E G H | 7319 | 300860 | Syndromic mental retardation, Nascimento type, X-linked | 300860 | C3275464 | OMIM | 1 | | 207 | 12472 | 312180 |
HP:0002465 | HP:0002465 | Poor speech | 0 | UNC80 CL E G H | 285175 | 616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 616801 | C4225203 | OMIM | 1 | | 1166 | 26582 | 612636 |
HP:0002465 | HP:0002465 | Poor speech | 0 | UQCC2 CL E G H | 84300 | 615824 | Mitochondrial complex III deficiency, nuclear type 7 | 615824 | C4014408 | OMIM | 1 | | 49 | 21237 | 614461 |
HP:0002465 | HP:0002465 | Poor speech | 0 | VCP CL E G H | 7415 | 275864 | | | | ORPHA | 1 | | 473 | 12666 | 601023 |
HP:0002465 | HP:0002465 | Poor speech | 0 | VLDLR CL E G H | 7436 | 224050 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | 224050 | CN074243 | OMIM | 1 | | 507 | 12698 | 192977 |
HP:0002465 | HP:0002465 | Poor speech | 0 | VPS11 CL E G H | 55823 | 466934 | | | | ORPHA | 1 | | 139 | 14583 | 608549 |
HP:0002465 | HP:0002465 | Poor speech | 0 | VPS11 CL E G H | 55823 | 616683 | Leukodystrophy, hypomyelinating, 12 | 616683 | C4225247 | OMIM | 1 | | 139 | 14583 | 608549 |
HP:0002465 | HP:0002465 | Poor speech | 0 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 504 | 28912 | 300526 |
HP:0002465 | HP:0002465 | Poor speech | 0 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 504 | 28912 | 300526 |
HP:0002465 | HP:0002465 | Poor speech | 0 | WDR73 CL E G H | 84942 | 251300 | Galloway-Mowat syndrome 1 | 251300 | CN031715 | OMIM | 1 | | 138 | 25928 | 616144 |
HP:0002465 | HP:0002465 | Poor speech | 0 | ZNF148 CL E G H | 7707 | 617260 | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | 617260 | C4310644 | OMIM | 1 | | 63 | 12933 | 601897 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002465 | HP:0002465 | Poor speech | 0 | ATP6V1B2 CL E G H | 526 | 79499 | | | | ORPHA | 0 | | 129 | 854 | 606939 |
HP:0002465 | HP:0002465 | Poor speech | 0 | FRMD4A CL E G H | 55691 | 466688 | | | | ORPHA | 0 | | 57 | 25491 | 616305 |