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:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | ABCC8 CL E G H | 6833 | 79134 | | | | ORPHA | 1 | | 1892 | 59 | 600509 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | ABCC8 CL E G H | 6833 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 1892 | 59 | 600509 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 1122 | 225 | 146920 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 653 | 236 | 600293 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | AIMP1 CL E G H | 9255 | 260600 | Leukodystrophy, hypomyelinating 3 | 260600 | C1850053 | OMIM | 1 | | 117 | 10648 | 603605 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | ALG3 CL E G H | 10195 | 601110 | Congenital disorder of glycosylation type 1D | 601110 | C1832736 | OMIM | 1 | | 219 | 23056 | 608750 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | ALG6 CL E G H | 29929 | 603147 | Congenital disorder of glycosylation type 1C | 603147 | C2930997 | OMIM | 1 | | 655 | 23157 | 604566 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | AMPD2 CL E G H | 271 | 615809 | Pontocerebellar hypoplasia, type 9 | 615809 | C4014354 | OMIM | 1 | | 392 | 469 | 102771 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 893 | 568 | 607246 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | AP4S1 CL E G H | 11154 | 614067 | Spastic paraplegia 52, autosomal recessive | 614067 | C3279743 | OMIM | 1 | | 148 | 575 | 607243 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 810 | 18060 | 300382 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 586 | 753 | 108370 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | ATAD3A CL E G H | 55210 | 496790 | | | | ORPHA | 1 | | 399 | 25567 | 612316 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 399 | 25567 | 612316 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 1583 | 1392 | 601013 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | CASK CL E G H | 8573 | 300749 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | 300749 | C2677903 | OMIM | 1 | | 844 | 1497 | 300172 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | CHMP1A CL E G H | 5119 | 614961 | Pontocerebellar hypoplasia type 8 | 614961 | C3554209 | OMIM | 1 | | 248 | 8740 | 164010 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 339 | 18620 | 606976 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 1 | | 339 | 18620 | 606976 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | COL11A2 CL E G H | 1302 | 3450 | Mehta Lewis Patton syndrome | | | ORPHA | 1 | | 1759 | 2187 | 120290 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | COL2A1 CL E G H | 1280 | 3450 | Mehta Lewis Patton syndrome | | | ORPHA | 1 | | 2380 | 2200 | 120140 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | COL4A3BP CL E G H | 10087 | 616351 | Mental retardation, autosomal dominant 34 | 616351 | C4225156 | OMIM | 1 | | | 2205 | 604677 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | DARS CL E G H | 1615 | 615281 | Hypomyelination with brainstem and spinal cord involvement and leg spasticity | 615281 | C3809008 | OMIM | 1 | | | 2678 | 603084 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | DCX CL E G H | 1641 | 300067 | Lissencephaly, X-linked | 300067 | C1848199 | OMIM | 1 | | 423 | 2714 | 300121 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | DDC CL E G H | 1644 | 608643 | Deficiency of aromatic-L-amino-acid decarboxylase | 608643 | C1291564 | OMIM | 1 | | 503 | 2719 | 107930 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | EXOSC3 CL E G H | 51010 | 614678 | Pontocerebellar hypoplasia, type 1b | 614678 | C3553449 | OMIM | 1 | | 227 | 17944 | 606489 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | FAM126A CL E G H | 84668 | 610532 | Hypomyelination and Congenital Cataract | 610532 | C1864663 | OMIM | 1 | | | 24587 | 610531 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | FGF12 CL E G H | 2257 | 617166 | Epileptic encephalopathy, early infantile, 47 | 617166 | C4310685 | OMIM | 1 | | 259 | 3668 | 601513 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | GCK CL E G H | 2645 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 947 | 4195 | 138079 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | GFM1 CL E G H | 85476 | 609060 | Combined oxidative phosphorylation deficiency 1 | 609060 | C1836797 | OMIM | 1 | | 650 | 13780 | 606639 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 323 | 17494 | 608803 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | GM2A CL E G H | 2760 | 272750 | Tay-Sachs disease, variant AB | 272750 | C0268275 | OMIM | 1 | | 212 | 4367 | 613109 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | GPHN CL E G H | 10243 | 615501 | Molybdenum cofactor deficiency, complementation group C | 615501 | C1854990 | OMIM | 1 | | 1473 | 15465 | 603930 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | GRIN2D CL E G H | 2906 | 617162 | Epileptic encephalopathy, early infantile, 46 | 617162 | C4310687 | OMIM | 1 | | 823 | 4588 | 602717 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | HACE1 CL E G H | 57531 | 464282 | | | | ORPHA | 1 | | 227 | 21033 | 610876 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | HTT CL E G H | 3064 | 617435 | Lopes-Maciel-Rodan syndrome | 617435 | C4479491 | OMIM | 1 | | 760 | 4851 | 613004 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | IER3IP1 CL E G H | 51124 | 614231 | Microcephaly, epilepsy, and diabetes syndrome | 614231 | C3280240 | OMIM | 1 | | 140 | 18550 | 609382 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 1 | | 1170 | 18873 | 606951 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | IFIH1 CL E G H | 64135 | 615846 | Aicardi-Goutieres syndrome 7 | 615846 | C3888244 | OMIM | 1 | | 1170 | 18873 | 606951 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | INS CL E G H | 3630 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 185 | 6081 | 176730 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | KCNJ11 CL E G H | 3767 | 79134 | | | | ORPHA | 1 | | 435 | 6257 | 600937 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | KCNJ11 CL E G H | 3767 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 435 | 6257 | 600937 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | KIDINS220 CL E G H | 57498 | 617296 | Spastic paraplegia, intellectual disability, nystagmus, and obesity | 617296 | C4284592 | OMIM | 1 | | 617 | 29508 | 615759 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | LIPT1 CL E G H | 51601 | 616299 | Lipoyltransferase 1 deficiency | 616299 | C4225379 | OMIM | 1 | | 124 | 29569 | 610284 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | MBOAT7 CL E G H | 79143 | 617188 | Mental retardation, autosomal recessive 57 | 617188 | C4310673 | OMIM | 1 | | 113 | 15505 | 606048 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | MRPS22 CL E G H | 56945 | 611719 | Combined oxidative phosphorylation deficiency 5 | 611719 | C2673642 | OMIM | 1 | | 188 | 14508 | 605810 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | NALCN CL E G H | 259232 | 615419 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 615419 | C3809454 | OMIM | 1 | | 877 | 19082 | 611549 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | NDUFB11 CL E G H | 54539 | 300952 | Linear skin defects with multiple congenital anomalies 3 | 300952 | C4225421 | OMIM | 1 | | 209 | 20372 | 300403 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | NDUFS2 CL E G H | 4720 | 618228 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 | 618228 | | OMIM | 1 | | 247 | 7708 | 602985 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | NECAP1 CL E G H | 25977 | 615833 | Early infantile epileptic encephalopathy 21 | 615833 | C4014430 | OMIM | 1 | | 221 | 24539 | 611623 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | NEDD4L CL E G H | 23327 | 617201 | Periventricular nodular heterotopia 7 | 617201 | C4310669 | OMIM | 1 | | 882 | 7728 | 606384 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | NEXMIF CL E G H | 340533 | 300912 | Mental retardation, X-linked 98 | 300912 | C3806730 | OMIM | 1 | | 990 | 29433 | 300524 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | NHLRC2 CL E G H | 374354 | 618278 | 618278 | 618278 | | OMIM | 1 | | 67 | 24731 | 0 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | NSMCE3 CL E G H | 56160 | 617241 | Lung disease, immunodeficiency, and chromosome breakage syndrome | 617241 | C4310653 | OMIM | 1 | | 272 | 7677 | 608243 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | NSUN2 CL E G H | 54888 | 611091 | Mental retardation, autosomal recessive 5 | 611091 | C1970199 | OMIM | 1 | | 566 | 25994 | 610916 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | OCLN CL E G H | 100506658 | 251290 | Band-like calcification with simplified gyration and polymicrogyria | 251290 | C3489725 | OMIM | 1 | | 138 | 8104 | 602876 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | OPA1 CL E G H | 4976 | 616896 | Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | 616896 | C4225163 | OMIM | 1 | | 1224 | 8140 | 605290 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | OSTM1 CL E G H | 28962 | 259720 | Osteopetrosis, autosomal recessive 5 | 259720 | C1968603 | OMIM | 1 | | 271 | 21652 | 607649 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | PAFAH1B1 CL E G H | 5048 | 607432 | Lissencephaly 1 | 607432 | C0431375 | OMIM | 1 | | 538 | 8574 | 601545 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | PAM16 CL E G H | 51025 | 613320 | Spondylometaphyseal dysplasia, megarbane-dagher-melki type | 613320 | C2750075 | OMIM | 1 | | 107 | 29679 | 614336 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | PCCA CL E G H | 5095 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 1189 | 8653 | 232000 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | PCCB CL E G H | 5096 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 971 | 8654 | 232050 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | PCDH12 CL E G H | 51294 | 251280 | Microcephaly with spastic quadriplegia | 251280 | C1855055 | OMIM | 1 | | 373 | 8657 | 605622 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | PCLO CL E G H | 27445 | 608027 | Pontocerebellar hypoplasia type 3 | 608027 | C1842687 | OMIM | 1 | | 2430 | 13406 | 604918 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | PDE10A CL E G H | 10846 | 494526 | | | | ORPHA | 1 | | 222 | 8772 | 610652 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | PDE10A CL E G H | 10846 | 616921 | Dyskinesia, limb and orofacial, infantile-onset | 616921 | C4310792 | OMIM | 1 | | 222 | 8772 | 610652 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | PDX1 CL E G H | 3651 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 170 | 6107 | 600733 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 1 | | 483 | 8957 | 311770 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | PIGY CL E G H | 84992 | 616809 | Hyperphosphatasia with mental retardation syndrome 6 | 616809 | C4225201 | OMIM | 1 | | 40 | 28213 | 610662 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | PIK3R2 CL E G H | 5296 | 603387 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 603387 | C1863924 | OMIM | 1 | | 355 | 8980 | 603157 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | PLCB1 CL E G H | 23236 | 613722 | Early infantile epileptic encephalopathy 12 | 613722 | C3150988 | OMIM | 1 | | 1107 | 15917 | 607120 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | PNPO CL E G H | 55163 | 79096 | | | | ORPHA | 1 | | 317 | 30260 | 603287 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | PTS CL E G H | 5805 | 261640 | 6-pyruvoyl-tetrahydropterin synthase deficiency | 261640 | C0878676 | OMIM | 1 | | 263 | 9689 | 612719 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | PYCR2 CL E G H | 29920 | 616420 | Leukodystrophy, hypomyelinating, 10 | 616420 | C4225332 | OMIM | 1 | | 143 | 30262 | 616406 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | RAB18 CL E G H | 22931 | 614222 | Warburg micro syndrome 3 | 614222 | C3280203 | OMIM | 1 | | 191 | 14244 | 602207 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | RAB3GAP2 CL E G H | 25782 | 614225 | Warburg micro syndrome 2 | 614225 | C3280214 | OMIM | 1 | | 671 | 17168 | 609275 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 1 | | 404 | 18518 | 606034 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 1 | | 426 | 25671 | 610326 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 1 | | 307 | 24116 | 610330 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | RUSC2 CL E G H | 9853 | 617773 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 | 617773 | C4540424 | OMIM | 1 | | 824 | 23625 | 611053 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 1 | | 746 | 15925 | 606754 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | SAMHD1 CL E G H | 25939 | 612952 | Aicardi Goutieres syndrome 5 | 612952 | C2749659 | OMIM | 1 | | 746 | 15925 | 606754 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | SLC18A2 CL E G H | 6571 | 352649 | | | | ORPHA | 1 | | 183 | 10935 | 193001 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | SLC18A2 CL E G H | 6571 | 618049 | PARKINSONISM-DYSTONIA, INFANTILE, 2 | 618049 | CN248785 | OMIM | 1 | | 183 | 10935 | 193001 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | SLC25A19 CL E G H | 60386 | 607196 | Amish lethal microcephaly | 607196 | C1846648 | OMIM | 1 | | 182 | 14409 | 606521 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | SLC30A9 CL E G H | 10463 | 617595 | Birk-Landau-Perez syndrome | 617595 | C4539828 | OMIM | 1 | | 45 | 1329 | 604604 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | SLC39A14 CL E G H | 23516 | 617013 | Hypermanganesemia with dystonia 2 | 617013 | C4310765 | OMIM | 1 | | 270 | 20858 | 608736 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | SLC6A3 CL E G H | 6531 | 238455 | | | | ORPHA | 1 | | 583 | 11049 | 126455 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 583 | 11049 | 126455 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | SLC6A9 CL E G H | 6536 | 617301 | Glycine encephalopathy with normal serum glycine | 617301 | C4310943 | OMIM | 1 | | 269 | 11056 | 601019 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | SMG9 CL E G H | 56006 | 616920 | Heart and brain malformation syndrome | 616920 | C4310793 | OMIM | 1 | | 65 | 25763 | 613176 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | SOX10 CL E G H | 6663 | 611584 | Waardenburg syndrome type 2E | 611584 | C2700405 | OMIM | 1 | | 378 | 11190 | 602229 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | SPATA5 CL E G H | 166378 | 616577 | Epilepsy, hearing loss, and mental retardation syndrome | 616577 | C4225276 | OMIM | 1 | | | 18119 | 613940 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | SPR CL E G H | 6697 | 70594 | | | | ORPHA | 1 | | 198 | 11257 | 182125 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | SPR CL E G H | 6697 | 612716 | Sepiapterin reductase deficiency | 612716 | C0268468 | OMIM | 1 | | 198 | 11257 | 182125 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | TARS2 CL E G H | 80222 | 615918 | Combined oxidative phosphorylation deficiency 21 | 615918 | C4014668 | OMIM | 1 | | 241 | 30740 | 612805 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | TH CL E G H | 7054 | 605407 | Segawa syndrome, autosomal recessive | 605407 | C1854299 | OMIM | 1 | | 967 | 11782 | 191290 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | TMTC3 CL E G H | 160418 | 617255 | Lissencephaly 8 | 617255 | C4310646 | OMIM | 1 | | 192 | 26899 | 617218 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | TREX1 CL E G H | 11277 | 225750 | Aicardi Goutieres syndrome 1 | 225750 | C0796126 | OMIM | 1 | | 418 | 12269 | 606609 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | TSEN2 CL E G H | 80746 | 612389 | Pontocerebellar hypoplasia type 2B | 612389 | C2676466 | OMIM | 1 | | 280 | 28422 | 608753 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | TUBB3 CL E G H | 10381 | 614039 | Cortical dysplasia, complex, with other brain malformations 1 | 614039 | C3808397 | OMIM | 1 | | 320 | 20772 | 602661 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | TUBB4A CL E G H | 10382 | 612438 | Leukodystrophy, hypomyelinating, 6 | 612438 | C2676244 | OMIM | 1 | | 272 | 20774 | 602662 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | VPS11 CL E G H | 55823 | 616683 | Leukodystrophy, hypomyelinating, 12 | 616683 | C4225247 | OMIM | 1 | | 228 | 14583 | 608549 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | WARS2 CL E G H | 10352 | 617710 | NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES | 617710 | C4540192 | OMIM | 1 | | 144 | 12730 | 604733 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | WWOX CL E G H | 51741 | 616211 | Epileptic encephalopathy, early infantile, 28 | 616211 | C4015519 | OMIM | 1 | | 1102 | 12799 | 605131 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | ABCC8 CL E G H | 6833 | 79134 | | | | ORPHA | 1 | | 1892 | 59 | 600509 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | ABCC8 CL E G H | 6833 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 1892 | 59 | 600509 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 1122 | 225 | 146920 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 653 | 236 | 600293 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | AIMP1 CL E G H | 9255 | 260600 | Leukodystrophy, hypomyelinating 3 | 260600 | C1850053 | OMIM | 1 | | 117 | 10648 | 603605 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | ALG3 CL E G H | 10195 | 601110 | Congenital disorder of glycosylation type 1D | 601110 | C1832736 | OMIM | 1 | | 219 | 23056 | 608750 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | ALG6 CL E G H | 29929 | 603147 | Congenital disorder of glycosylation type 1C | 603147 | C2930997 | OMIM | 1 | | 655 | 23157 | 604566 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | AMPD2 CL E G H | 271 | 615809 | Pontocerebellar hypoplasia, type 9 | 615809 | C4014354 | OMIM | 1 | | 392 | 469 | 102771 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 893 | 568 | 607246 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | AP4S1 CL E G H | 11154 | 614067 | Spastic paraplegia 52, autosomal recessive | 614067 | C3279743 | OMIM | 1 | | 148 | 575 | 607243 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 810 | 18060 | 300382 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 586 | 753 | 108370 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | ATAD3A CL E G H | 55210 | 496790 | | | | ORPHA | 1 | | 399 | 25567 | 612316 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 399 | 25567 | 612316 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 1583 | 1392 | 601013 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | CASK CL E G H | 8573 | 300749 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | 300749 | C2677903 | OMIM | 1 | | 844 | 1497 | 300172 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | CHMP1A CL E G H | 5119 | 614961 | Pontocerebellar hypoplasia type 8 | 614961 | C3554209 | OMIM | 1 | | 248 | 8740 | 164010 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 339 | 18620 | 606976 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 1 | | 339 | 18620 | 606976 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | COL11A2 CL E G H | 1302 | 3450 | Mehta Lewis Patton syndrome | | | ORPHA | 1 | | 1759 | 2187 | 120290 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | COL2A1 CL E G H | 1280 | 3450 | Mehta Lewis Patton syndrome | | | ORPHA | 1 | | 2380 | 2200 | 120140 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | COL4A3BP CL E G H | 10087 | 616351 | Mental retardation, autosomal dominant 34 | 616351 | C4225156 | OMIM | 1 | | | 2205 | 604677 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | DARS CL E G H | 1615 | 615281 | Hypomyelination with brainstem and spinal cord involvement and leg spasticity | 615281 | C3809008 | OMIM | 1 | | | 2678 | 603084 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | DCX CL E G H | 1641 | 300067 | Lissencephaly, X-linked | 300067 | C1848199 | OMIM | 1 | | 423 | 2714 | 300121 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | DDC CL E G H | 1644 | 608643 | Deficiency of aromatic-L-amino-acid decarboxylase | 608643 | C1291564 | OMIM | 1 | | 503 | 2719 | 107930 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | EXOSC3 CL E G H | 51010 | 614678 | Pontocerebellar hypoplasia, type 1b | 614678 | C3553449 | OMIM | 1 | | 227 | 17944 | 606489 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | FAM126A CL E G H | 84668 | 610532 | Hypomyelination and Congenital Cataract | 610532 | C1864663 | OMIM | 1 | | | 24587 | 610531 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | FGF12 CL E G H | 2257 | 617166 | Epileptic encephalopathy, early infantile, 47 | 617166 | C4310685 | OMIM | 1 | | 259 | 3668 | 601513 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | GCK CL E G H | 2645 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 947 | 4195 | 138079 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | GFM1 CL E G H | 85476 | 609060 | Combined oxidative phosphorylation deficiency 1 | 609060 | C1836797 | OMIM | 1 | | 650 | 13780 | 606639 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 323 | 17494 | 608803 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | GM2A CL E G H | 2760 | 272750 | Tay-Sachs disease, variant AB | 272750 | C0268275 | OMIM | 1 | | 212 | 4367 | 613109 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | GPHN CL E G H | 10243 | 615501 | Molybdenum cofactor deficiency, complementation group C | 615501 | C1854990 | OMIM | 1 | | 1473 | 15465 | 603930 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | GRIN2D CL E G H | 2906 | 617162 | Epileptic encephalopathy, early infantile, 46 | 617162 | C4310687 | OMIM | 1 | | 823 | 4588 | 602717 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | HACE1 CL E G H | 57531 | 464282 | | | | ORPHA | 1 | | 227 | 21033 | 610876 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | HTT CL E G H | 3064 | 617435 | Lopes-Maciel-Rodan syndrome | 617435 | C4479491 | OMIM | 1 | | 760 | 4851 | 613004 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | IER3IP1 CL E G H | 51124 | 614231 | Microcephaly, epilepsy, and diabetes syndrome | 614231 | C3280240 | OMIM | 1 | | 140 | 18550 | 609382 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 1 | | 1170 | 18873 | 606951 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | IFIH1 CL E G H | 64135 | 615846 | Aicardi-Goutieres syndrome 7 | 615846 | C3888244 | OMIM | 1 | | 1170 | 18873 | 606951 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | INS CL E G H | 3630 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 185 | 6081 | 176730 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | KCNJ11 CL E G H | 3767 | 79134 | | | | ORPHA | 1 | | 435 | 6257 | 600937 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | KCNJ11 CL E G H | 3767 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 435 | 6257 | 600937 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | KIDINS220 CL E G H | 57498 | 617296 | Spastic paraplegia, intellectual disability, nystagmus, and obesity | 617296 | C4284592 | OMIM | 1 | | 617 | 29508 | 615759 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | LIPT1 CL E G H | 51601 | 616299 | Lipoyltransferase 1 deficiency | 616299 | C4225379 | OMIM | 1 | | 124 | 29569 | 610284 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | MBOAT7 CL E G H | 79143 | 617188 | Mental retardation, autosomal recessive 57 | 617188 | C4310673 | OMIM | 1 | | 113 | 15505 | 606048 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | MRPS22 CL E G H | 56945 | 611719 | Combined oxidative phosphorylation deficiency 5 | 611719 | C2673642 | OMIM | 1 | | 188 | 14508 | 605810 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | NALCN CL E G H | 259232 | 615419 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 615419 | C3809454 | OMIM | 1 | | 877 | 19082 | 611549 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | NDUFB11 CL E G H | 54539 | 300952 | Linear skin defects with multiple congenital anomalies 3 | 300952 | C4225421 | OMIM | 1 | | 209 | 20372 | 300403 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | NDUFS2 CL E G H | 4720 | 618228 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 | 618228 | | OMIM | 1 | | 247 | 7708 | 602985 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | NECAP1 CL E G H | 25977 | 615833 | Early infantile epileptic encephalopathy 21 | 615833 | C4014430 | OMIM | 1 | | 221 | 24539 | 611623 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | NEDD4L CL E G H | 23327 | 617201 | Periventricular nodular heterotopia 7 | 617201 | C4310669 | OMIM | 1 | | 882 | 7728 | 606384 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | NEXMIF CL E G H | 340533 | 300912 | Mental retardation, X-linked 98 | 300912 | C3806730 | OMIM | 1 | | 990 | 29433 | 300524 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | NHLRC2 CL E G H | 374354 | 618278 | 618278 | 618278 | | OMIM | 1 | | 67 | 24731 | 0 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | NSMCE3 CL E G H | 56160 | 617241 | Lung disease, immunodeficiency, and chromosome breakage syndrome | 617241 | C4310653 | OMIM | 1 | | 272 | 7677 | 608243 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | NSUN2 CL E G H | 54888 | 611091 | Mental retardation, autosomal recessive 5 | 611091 | C1970199 | OMIM | 1 | | 566 | 25994 | 610916 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | OCLN CL E G H | 100506658 | 251290 | Band-like calcification with simplified gyration and polymicrogyria | 251290 | C3489725 | OMIM | 1 | | 138 | 8104 | 602876 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | OPA1 CL E G H | 4976 | 616896 | Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | 616896 | C4225163 | OMIM | 1 | | 1224 | 8140 | 605290 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | OSTM1 CL E G H | 28962 | 259720 | Osteopetrosis, autosomal recessive 5 | 259720 | C1968603 | OMIM | 1 | | 271 | 21652 | 607649 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | PAFAH1B1 CL E G H | 5048 | 607432 | Lissencephaly 1 | 607432 | C0431375 | OMIM | 1 | | 538 | 8574 | 601545 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | PAM16 CL E G H | 51025 | 613320 | Spondylometaphyseal dysplasia, megarbane-dagher-melki type | 613320 | C2750075 | OMIM | 1 | | 107 | 29679 | 614336 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | PCCA CL E G H | 5095 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 1189 | 8653 | 232000 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | PCCB CL E G H | 5096 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 971 | 8654 | 232050 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | PCDH12 CL E G H | 51294 | 251280 | Microcephaly with spastic quadriplegia | 251280 | C1855055 | OMIM | 1 | | 373 | 8657 | 605622 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | PCLO CL E G H | 27445 | 608027 | Pontocerebellar hypoplasia type 3 | 608027 | C1842687 | OMIM | 1 | | 2430 | 13406 | 604918 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | PDE10A CL E G H | 10846 | 494526 | | | | ORPHA | 1 | | 222 | 8772 | 610652 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | PDE10A CL E G H | 10846 | 616921 | Dyskinesia, limb and orofacial, infantile-onset | 616921 | C4310792 | OMIM | 1 | | 222 | 8772 | 610652 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | PDX1 CL E G H | 3651 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 170 | 6107 | 600733 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 1 | | 483 | 8957 | 311770 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | PIGY CL E G H | 84992 | 616809 | Hyperphosphatasia with mental retardation syndrome 6 | 616809 | C4225201 | OMIM | 1 | | 40 | 28213 | 610662 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | PIK3R2 CL E G H | 5296 | 603387 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 603387 | C1863924 | OMIM | 1 | | 355 | 8980 | 603157 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | PLCB1 CL E G H | 23236 | 613722 | Early infantile epileptic encephalopathy 12 | 613722 | C3150988 | OMIM | 1 | | 1107 | 15917 | 607120 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | PNPO CL E G H | 55163 | 79096 | | | | ORPHA | 1 | | 317 | 30260 | 603287 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | PTS CL E G H | 5805 | 261640 | 6-pyruvoyl-tetrahydropterin synthase deficiency | 261640 | C0878676 | OMIM | 1 | | 263 | 9689 | 612719 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | PYCR2 CL E G H | 29920 | 616420 | Leukodystrophy, hypomyelinating, 10 | 616420 | C4225332 | OMIM | 1 | | 143 | 30262 | 616406 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | RAB18 CL E G H | 22931 | 614222 | Warburg micro syndrome 3 | 614222 | C3280203 | OMIM | 1 | | 191 | 14244 | 602207 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | RAB3GAP2 CL E G H | 25782 | 614225 | Warburg micro syndrome 2 | 614225 | C3280214 | OMIM | 1 | | 671 | 17168 | 609275 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 1 | | 404 | 18518 | 606034 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 1 | | 426 | 25671 | 610326 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 1 | | 307 | 24116 | 610330 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | RUSC2 CL E G H | 9853 | 617773 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 | 617773 | C4540424 | OMIM | 1 | | 824 | 23625 | 611053 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 1 | | 746 | 15925 | 606754 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | SAMHD1 CL E G H | 25939 | 612952 | Aicardi Goutieres syndrome 5 | 612952 | C2749659 | OMIM | 1 | | 746 | 15925 | 606754 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | SLC18A2 CL E G H | 6571 | 352649 | | | | ORPHA | 1 | | 183 | 10935 | 193001 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | SLC18A2 CL E G H | 6571 | 618049 | PARKINSONISM-DYSTONIA, INFANTILE, 2 | 618049 | CN248785 | OMIM | 1 | | 183 | 10935 | 193001 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | SLC25A19 CL E G H | 60386 | 607196 | Amish lethal microcephaly | 607196 | C1846648 | OMIM | 1 | | 182 | 14409 | 606521 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | SLC30A9 CL E G H | 10463 | 617595 | Birk-Landau-Perez syndrome | 617595 | C4539828 | OMIM | 1 | | 45 | 1329 | 604604 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | SLC39A14 CL E G H | 23516 | 617013 | Hypermanganesemia with dystonia 2 | 617013 | C4310765 | OMIM | 1 | | 270 | 20858 | 608736 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | SLC6A3 CL E G H | 6531 | 238455 | | | | ORPHA | 1 | | 583 | 11049 | 126455 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 583 | 11049 | 126455 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | SLC6A9 CL E G H | 6536 | 617301 | Glycine encephalopathy with normal serum glycine | 617301 | C4310943 | OMIM | 1 | | 269 | 11056 | 601019 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | SMG9 CL E G H | 56006 | 616920 | Heart and brain malformation syndrome | 616920 | C4310793 | OMIM | 1 | | 65 | 25763 | 613176 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | SOX10 CL E G H | 6663 | 611584 | Waardenburg syndrome type 2E | 611584 | C2700405 | OMIM | 1 | | 378 | 11190 | 602229 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | SPATA5 CL E G H | 166378 | 616577 | Epilepsy, hearing loss, and mental retardation syndrome | 616577 | C4225276 | OMIM | 1 | | | 18119 | 613940 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | SPR CL E G H | 6697 | 70594 | | | | ORPHA | 1 | | 198 | 11257 | 182125 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | SPR CL E G H | 6697 | 612716 | Sepiapterin reductase deficiency | 612716 | C0268468 | OMIM | 1 | | 198 | 11257 | 182125 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | TARS2 CL E G H | 80222 | 615918 | Combined oxidative phosphorylation deficiency 21 | 615918 | C4014668 | OMIM | 1 | | 241 | 30740 | 612805 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | TH CL E G H | 7054 | 605407 | Segawa syndrome, autosomal recessive | 605407 | C1854299 | OMIM | 1 | | 967 | 11782 | 191290 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | TMTC3 CL E G H | 160418 | 617255 | Lissencephaly 8 | 617255 | C4310646 | OMIM | 1 | | 192 | 26899 | 617218 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | TREX1 CL E G H | 11277 | 225750 | Aicardi Goutieres syndrome 1 | 225750 | C0796126 | OMIM | 1 | | 418 | 12269 | 606609 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | TSEN2 CL E G H | 80746 | 612389 | Pontocerebellar hypoplasia type 2B | 612389 | C2676466 | OMIM | 1 | | 280 | 28422 | 608753 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | TUBB3 CL E G H | 10381 | 614039 | Cortical dysplasia, complex, with other brain malformations 1 | 614039 | C3808397 | OMIM | 1 | | 320 | 20772 | 602661 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | TUBB4A CL E G H | 10382 | 612438 | Leukodystrophy, hypomyelinating, 6 | 612438 | C2676244 | OMIM | 1 | | 272 | 20774 | 602662 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | VPS11 CL E G H | 55823 | 616683 | Leukodystrophy, hypomyelinating, 12 | 616683 | C4225247 | OMIM | 1 | | 228 | 14583 | 608549 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | WARS2 CL E G H | 10352 | 617710 | NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES | 617710 | C4540192 | OMIM | 1 | | 144 | 12730 | 604733 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | WWOX CL E G H | 51741 | 616211 | Epileptic encephalopathy, early infantile, 28 | 616211 | C4015519 | OMIM | 1 | | 1102 | 12799 | 605131 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 0 | | 653 | 236 | 600293 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | COG6 CL E G H | 57511 | 614576 | Congenital disorder of glycosylation type 2L | 614576 | C3553230 | OMIM | 0 | | 366 | 18621 | 606977 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | DNAJC12 CL E G H | 56521 | 617384 | Hyperphenylalaninemia, mild, non-bh4-deficient | 617384 | C4479270 | OMIM | 0 | | 115 | 28908 | 606060 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 0 | | 208 | 3267 | 300161 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | ELP2 CL E G H | 55250 | 617270 | Mental retardation, autosomal recessive 58 | 617270 | C4310641 | OMIM | 0 | | 166 | 18248 | 616054 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | EMC1 CL E G H | 23065 | 616875 | Cerebellar atrophy, visual impairment, and psychomotor retardation | 616875 | C4225172 | OMIM | 0 | | 938 | 28957 | 616846 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | EXTL3 CL E G H | 2137 | 617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | 617425 | C4479452 | OMIM | 0 | | 470 | 3518 | 605744 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | KIF1A CL E G H | 547 | 614255 | Mental retardation, autosomal dominant 9 | 614255 | C3280283 | OMIM | 0 | | 2622 | 888 | 601255 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | UBE3B CL E G H | 89910 | 244450 | Kaufman oculocerebrofacial syndrome | 244450 | C1855663 | OMIM | 0 | | 316 | 13478 | 608047 |
HP:0008936 | HP:0008936 | Muscular hypotonia of the trunk | 0 | WDR73 CL E G H | 84942 | 251300 | Galloway-Mowat syndrome 1 | 251300 | CN031715 | OMIM | 0 | | 220 | 25928 | 616144 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 0 | | 653 | 236 | 600293 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | COG6 CL E G H | 57511 | 614576 | Congenital disorder of glycosylation type 2L | 614576 | C3553230 | OMIM | 0 | | 366 | 18621 | 606977 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | DNAJC12 CL E G H | 56521 | 617384 | Hyperphenylalaninemia, mild, non-bh4-deficient | 617384 | C4479270 | OMIM | 0 | | 115 | 28908 | 606060 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 0 | | 208 | 3267 | 300161 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | ELP2 CL E G H | 55250 | 617270 | Mental retardation, autosomal recessive 58 | 617270 | C4310641 | OMIM | 0 | | 166 | 18248 | 616054 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | EMC1 CL E G H | 23065 | 616875 | Cerebellar atrophy, visual impairment, and psychomotor retardation | 616875 | C4225172 | OMIM | 0 | | 938 | 28957 | 616846 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | EXTL3 CL E G H | 2137 | 617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | 617425 | C4479452 | OMIM | 0 | | 470 | 3518 | 605744 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | KIF1A CL E G H | 547 | 614255 | Mental retardation, autosomal dominant 9 | 614255 | C3280283 | OMIM | 0 | | 2622 | 888 | 601255 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | UBE3B CL E G H | 89910 | 244450 | Kaufman oculocerebrofacial syndrome | 244450 | C1855663 | OMIM | 0 | | 316 | 13478 | 608047 |
HP:0008936 | HP:0009062 | Infantile axial hypotonia | 1 | WDR73 CL E G H | 84942 | 251300 | Galloway-Mowat syndrome 1 | 251300 | CN031715 | OMIM | 0 | | 220 | 25928 | 616144 |