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Egenskap
Severe global developmental delay
A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
Sammendrag
- Også kalt
- Global developmental delay, severe
- Kroppssystem
- Abnormality of the nervous system
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Denne siden som data
Legg til .json etter adressen til siden, eller be om application/json, for å lese den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/severe-global-developmental-delay.json"
page <- fromJSON(url)
page$trait$nameSevere global developmental delayHP:0011344
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Les genene knyttet til Severe global developmental delay, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test271 gener knyttet til Severe global developmental delay
Endringer i disse genene forårsaker sjeldne tilstander der Severe global developmental delay forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ACO2aconitase 2 | Alltid | I 1 tilstand |
| ACTL6Bactin like 6B | Alltid | I 2 tilstander |
| ADARadenosine deaminase RNA specific | Alltid | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Alltid | I 2 tilstander |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Alltid | I 1 tilstand |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Alltid | I 1 tilstand |
| ARXaristaless related homeobox | Alltid | I 3 tilstander |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Alltid | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Alltid | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Alltid | I 1 tilstand |
| ATXN7L3ataxin 7 like 3 | Alltid | I 1 tilstand |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Alltid | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Alltid | I 1 tilstand |
| C18orf32chromosome 18 open reading frame 32 | Alltid | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Alltid | I 1 tilstand |
| CCT3chaperonin containing TCP1 subunit 3 | Alltid | I 1 tilstand |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Alltid | I 1 tilstand |
| CHKAcholine kinase alpha | Alltid | I 1 tilstand |
| COPB2coat protein complex I subunit beta 2 | Alltid | I 1 tilstand |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Alltid | I 1 tilstand |
| CTNNA2catenin alpha 2 | Alltid | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Alltid | I 1 tilstand |
| DENND5ADENN domain containing 5A | Alltid | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Alltid | I 1 tilstand |
| DHRSXdehydrogenase/reductase X-linked | Alltid | I 1 tilstand |
| DNM1dynamin 1 | Alltid | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Alltid | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Alltid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Alltid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alltid | I 1 tilstand |
| ESAMendothelial cell adhesion molecule | Alltid | I 1 tilstand |
| EXOC3L2exocyst complex component 3 like 2 | Alltid | I 1 tilstand |
| EXOC8exocyst complex component 8 | Alltid | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Alltid | I 1 tilstand |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Alltid | I 1 tilstand |
| FUT8fucosyltransferase 8 | Alltid | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Alltid | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Alltid | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Alltid | I 1 tilstand |
| GAMTguanidinoacetate N-methyltransferase | Alltid | I 2 tilstander |
Vis 231 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| GEMIN4gem nuclear organelle associated protein 4 | Alltid | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Alltid | I 2 tilstander |
| GLULglutamate-ammonia ligase | Alltid | I 1 tilstand |
| GPHNgephyrin | Alltid | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Alltid | I 2 tilstander |
| GRM1glutamate metabotropic receptor 1 | Alltid | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Alltid | I 1 tilstand |
| GSX2GS homeobox 2 | Alltid | I 1 tilstand |
| IFT56intraflagellar transport 56 | Alltid | I 1 tilstand |
| INTS1integrator complex subunit 1 | Alltid | I 1 tilstand |
| INTS11integrator complex subunit 11 | Alltid | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Alltid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Alltid | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Alltid | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Alltid | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Alltid | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Alltid | I 1 tilstand |
| LSM11LSM11, U7 small nuclear RNA associated | Alltid | I 1 tilstand |
| MADDMAP kinase activating death domain | Alltid | I 2 tilstander |
| MAP2K1mitogen-activated protein kinase kinase 1 | Alltid | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Alltid | I 1 tilstand |
| MAPKAPK5MAPK activated protein kinase 5 | Alltid | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Alltid | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Alltid | I 4 tilstander |
| MED16mediator complex subunit 16 | Alltid | I 1 tilstand |
| MEIS2Meis homeobox 2 | Alltid | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Alltid | I 1 tilstand |
| MN1MN1 proto-oncogene, transcriptional regulator | Alltid | I 1 tilstand |
| MOCS3molybdenum cofactor synthesis 3 | Alltid | I 1 tilstand |
| MPDU1mannose-P-dolichol utilization defect 1 | Alltid | I 1 tilstand |
| MRAPmelanocortin 2 receptor accessory protein | Alltid | I 1 tilstand |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Alltid | I 1 tilstand |
| NINninein | Alltid | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Alltid | I 1 tilstand |
| PGBD5piggyBac transposable element derived 5 | Alltid | I 1 tilstand |
| PHACTR1phosphatase and actin regulator 1 | Alltid | I 1 tilstand |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Alltid | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Alltid | I 1 tilstand |
| POMKprotein O-mannose kinase | Alltid | I 1 tilstand |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Alltid | I 1 tilstand |
| PRMT7protein arginine methyltransferase 7 | Alltid | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Alltid | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Alltid | I 2 tilstander |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Alltid | I 1 tilstand |
| RBL2RB transcriptional corepressor like 2 | Alltid | I 1 tilstand |
| RNF2ring finger protein 2 | Alltid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Alltid | I 1 tilstand |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Alltid | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Alltid | I 1 tilstand |
| SLC30A9solute carrier family 30 member 9 | Alltid | I 1 tilstand |
| SLC33A1solute carrier family 33 member 1 | Alltid | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Alltid | I 2 tilstander |
| SNIP1Smad nuclear interacting protein 1 | Alltid | I 1 tilstand |
| SPTBN4spectrin beta, non-erythrocytic 4 | Alltid | I 1 tilstand |
| ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Alltid | I 1 tilstand |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Alltid | I 1 tilstand |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Alltid | I 1 tilstand |
| TAF8TATA-box binding protein associated factor 8 | Alltid | I 1 tilstand |
| TM2D3TM2 domain containing 3 | Alltid | I 1 tilstand |
| TMEM63Btransmembrane protein 63B | Alltid | I 1 tilstand |
| TRA2Btransformer 2 beta homolog | Alltid | I 1 tilstand |
| TRAPPC12trafficking protein particle complex subunit 12 | Alltid | I 2 tilstander |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Alltid | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Alltid | I 1 tilstand |
| TUBB2Atubulin beta 2A class IIa | Alltid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alltid | I 1 tilstand |
| UGP2UDP-glucose pyrophosphorylase 2 | Alltid | I 1 tilstand |
| VPS35LVPS35 endosomal protein sorting factor like | Alltid | I 1 tilstand |
| VPS4Avacuolar protein sorting 4 homolog A | Alltid | I 1 tilstand |
| VPS50VPS50 subunit of EARP/GARPII complex | Alltid | I 1 tilstand |
| VPS51VPS51 subunit of GARP complex | Alltid | I 1 tilstand |
| VPS53VPS53 subunit of GARP complex | Alltid | I 1 tilstand |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Alltid | I 1 tilstand |
| ZNF335zinc finger protein 335 | Alltid | I 1 tilstand |
| ZPR1ZPR1 zinc finger | Alltid | I 1 tilstand |
| ABAT4-aminobutyrate aminotransferase | Svært ofte (80–99 %) | I 1 tilstand |
| ADSLadenylosuccinate lyase | Svært ofte (80–99 %) | I 2 tilstander |
| CASKcalcium/calmodulin dependent serine protein kinase | Svært ofte (80–99 %) | I 1 tilstand |
| CTNND2catenin delta 2 | Svært ofte (80–99 %) | I 1 tilstand |
| DEAF1DEAF1 transcription factor | Svært ofte (80–99 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Svært ofte (80–99 %) | I 1 tilstand |
| EMG1EMG1 N1-specific pseudouridine methyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC5ERCC excision repair 5, endonuclease | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Svært ofte (80–99 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| MED25mediator complex subunit 25 | Svært ofte (80–99 %) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Svært ofte (80–99 %) | I 1 tilstand |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Svært ofte (80–99 %) | I 2 tilstander |
| PEX11Bperoxisomal biogenesis factor 11 beta | Svært ofte (80–99 %) | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX14peroxisomal biogenesis factor 14 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Svært ofte (80–99 %) | I 2 tilstander |
| PEX19peroxisomal biogenesis factor 19 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX26peroxisomal biogenesis factor 26 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Svært ofte (80–99 %) | I 2 tilstander |
| PEX5peroxisomal biogenesis factor 5 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Svært ofte (80–99 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Svært ofte (80–99 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Svært ofte (80–99 %) | I 2 tilstander |
| PRIM1DNA primase subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RPS6KA3ribosomal protein S6 kinase A3 | Svært ofte (80–99 %) | I 1 tilstand |
| SEMA5Asemaphorin 5A | Svært ofte (80–99 %) | I 1 tilstand |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Svært ofte (80–99 %) | I 1 tilstand |
| SLC25A19solute carrier family 25 member 19 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC9A6solute carrier family 9 member A6 | Svært ofte (80–99 %) | I 1 tilstand |
| SNX14sorting nexin 14 | Svært ofte (80–99 %) | I 1 tilstand |
| SYT1synaptotagmin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TBR1T-box brain transcription factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TELO2telomere maintenance 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TSEN15tRNA splicing endonuclease subunit 15 | Svært ofte (80–99 %) | I 1 tilstand |
| TSEN2tRNA splicing endonuclease subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TSEN34tRNA splicing endonuclease subunit 34 | Svært ofte (80–99 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Svært ofte (80–99 %) | I 3 tilstander |
| TUBA8tubulin alpha 8 | Svært ofte (80–99 %) | I 1 tilstand |
| TXN2thioredoxin 2 | Svært ofte (80–99 %) | I 2 tilstander |
| ADKadenosine kinase | Ofte (30–79 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Ofte (30–79 %) | I 1 tilstand |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Icalcium voltage-gated channel subunit alpha1 I | Ofte (30–79 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Ofte (30–79 %) | I 2 tilstander |
| CLTCL1clathrin heavy chain like 1 | Ofte (30–79 %) | I 1 tilstand |
| COG8component of oligomeric golgi complex 8 | Ofte (30–79 %) | I 1 tilstand |
| DAG1dystroglycan 1 | Ofte (30–79 %) | I 1 tilstand |
| DOCK6dedicator of cytokinesis 6 | Ofte (30–79 %) | I 1 tilstand |
| ECHS1enoyl-CoA hydratase, short chain 1 | Ofte (30–79 %) | I 1 tilstand |
| EXOC2exocyst complex component 2 | Ofte (30–79 %) | I 1 tilstand |
| FGF13fibroblast growth factor 13 | Ofte (30–79 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Ofte (30–79 %) | I 1 tilstand |
| GTPBP1GTP binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| INSRinsulin receptor | Ofte (30–79 %) | I 1 tilstand |
| KATNB1katanin regulatory subunit B1 | Ofte (30–79 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Ofte (30–79 %) | I 1 tilstand |
| KDM5Blysine demethylase 5B | Ofte (30–79 %) | I 1 tilstand |
| KIF15kinesin family member 15 | Ofte (30–79 %) | I 1 tilstand |
| LAMB1laminin subunit beta 1 | Ofte (30–79 %) | I 2 tilstander |
| MAB21L1mab-21 like 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Ofte (30–79 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Ofte (30–79 %) | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Ofte (30–79 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Ofte (30–79 %) | I 1 tilstand |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Ofte (30–79 %) | I 1 tilstand |
| NDE1nudE neurodevelopment protein 1 | Ofte (30–79 %) | I 1 tilstand |
| NTNG1netrin G1 | Ofte (30–79 %) | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Ofte (30–79 %) | I 1 tilstand |
| PSMC3proteasome 26S subunit, ATPase 3 | Ofte (30–79 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Ofte (30–79 %) | I 1 tilstand |
| RELNreelin | Ofte (30–79 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Ofte (30–79 %) | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Ofte (30–79 %) | I 1 tilstand |
| RTTNrotatin | Ofte (30–79 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Ofte (30–79 %) | I 1 tilstand |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Ofte (30–79 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Ofte (30–79 %) | I 1 tilstand |
| WDR26WD repeat domain 26 | Ofte (30–79 %) | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| CYB5Acytochrome b5 type A | Noen ganger (5–29 %) | I 1 tilstand |
| CYB5R3cytochrome b5 reductase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DHRS3dehydrogenase/reductase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXP2forkhead box P2 | Noen ganger (5–29 %) | I 1 tilstand |
| GLYCTKglycerate kinase | Noen ganger (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNK3potassium two pore domain channel subfamily K member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NKX6-2NK6 homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Noen ganger (5–29 %) | I 1 tilstand |
| POLRMTRNA polymerase mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| PRORPprotein only RNase P catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RNASET2ribonuclease T2 | Noen ganger (5–29 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| STRADASTE20 related adaptor alpha | Noen ganger (5–29 %) | I 1 tilstand |
| TANGO2transport and golgi organization 2 homolog | Noen ganger (5–29 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR62WD repeat domain 62 | Noen ganger (5–29 %) | I 1 tilstand |
| YY1YY1 transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| ABCC6ATP binding cassette subfamily C member 6 | Sjelden (1–4%) | I 1 tilstand |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Sjelden (1–4%) | I 1 tilstand |
| FOXA2forkhead box A2 | Sjelden (1–4%) | I 1 tilstand |
| HESX1HESX homeobox 1 | Sjelden (1–4%) | I 1 tilstand |
| LHX4LIM homeobox 4 | Sjelden (1–4%) | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Sjelden (1–4%) | I 1 tilstand |
| POU1F1POU class 1 homeobox 1 | Sjelden (1–4%) | I 1 tilstand |
| PROP1PROP paired-like homeobox 1 | Sjelden (1–4%) | I 1 tilstand |
| ACOX1acyl-CoA oxidase 1 | Ikke registrert | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Ikke registrert | I 1 tilstand |
| DEGS1delta 4-desaturase, sphingolipid 1 | Ikke registrert | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Ikke registrert | I 1 tilstand |
| DYMdymeclin | Ikke registrert | I 1 tilstand |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Ikke registrert | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Ikke registrert | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ikke registrert | I 1 tilstand |
| PLCB3phospholipase C beta 3 | Ikke registrert | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Ikke registrert | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Ikke registrert | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Ikke registrert | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Ikke registrert | I 1 tilstand |
| STAMBPSTAM binding protein | Ikke registrert | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Ikke registrert | I 1 tilstand |
| UGDHUDP-glucose 6-dehydrogenase | Ikke registrert | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registrert | I 1 tilstand |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.17-8666dff2.
AtlasHvem vi hjelperVår vitenskapProdukterResultater
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