Požymis
Severe global developmental delay
A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
Santrauka
- Taip pat vadinama
- Global developmental delay, severe
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Severe global developmental delay, and the rest of your genome, with one test.
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Įsigyti savo Genome Test271 genas susijęs su Severe global developmental delay
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Severe global developmental delay. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ACO2aconitase 2 | Visada | 1 ligoje |
| ACTL6Bactin like 6B | Visada | 2 ligose |
| ADARadenosine deaminase RNA specific | Visada | 1 ligoje |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Visada | 2 ligose |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Visada | 1 ligoje |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Visada | 1 ligoje |
| ARXaristaless related homeobox | Visada | 3 ligose |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Visada | 1 ligoje |
| ASXL3ASXL transcriptional regulator 3 | Visada | 1 ligoje |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Visada | 1 ligoje |
| ATXN7L3ataxin 7 like 3 | Visada | 1 ligoje |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Visada | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Visada | 1 ligoje |
| C18orf32chromosome 18 open reading frame 32 | Visada | 1 ligoje |
| CCDC47coiled-coil domain containing 47 | Visada | 1 ligoje |
| CCT3chaperonin containing TCP1 subunit 3 | Visada | 1 ligoje |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Visada | 1 ligoje |
| CHKAcholine kinase alpha | Visada | 1 ligoje |
| COPB2coat protein complex I subunit beta 2 | Visada | 1 ligoje |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Visada | 1 ligoje |
| CTNNA2catenin alpha 2 | Visada | 1 ligoje |
| DALRD3DALR anticodon binding domain containing 3 | Visada | 1 ligoje |
| DENND5ADENN domain containing 5A | Visada | 1 ligoje |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Visada | 1 ligoje |
| DHRSXdehydrogenase/reductase X-linked | Visada | 1 ligoje |
| DNM1dynamin 1 | Visada | 1 ligoje |
| DPYSL5dihydropyrimidinase like 5 | Visada | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Visada | 1 ligoje |
| EIF4A2eukaryotic translation initiation factor 4A2 | Visada | 1 ligoje |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Visada | 1 ligoje |
| ESAMendothelial cell adhesion molecule | Visada | 1 ligoje |
| EXOC3L2exocyst complex component 3 like 2 | Visada | 1 ligoje |
| EXOC8exocyst complex component 8 | Visada | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Visada | 1 ligoje |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Visada | 1 ligoje |
| FUT8fucosyltransferase 8 | Visada | 1 ligoje |
| FZR1fizzy and cell division cycle 20 related 1 | Visada | 1 ligoje |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Visada | 1 ligoje |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Visada | 1 ligoje |
| GAMTguanidinoacetate N-methyltransferase | Visada | 2 ligose |
Rodyti dar 231 geną
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| GEMIN4gem nuclear organelle associated protein 4 | Visada | 1 ligoje |
| GLI2GLI family zinc finger 2 | Visada | 2 ligose |
| GLULglutamate-ammonia ligase | Visada | 1 ligoje |
| GPHNgephyrin | Visada | 1 ligoje |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Visada | 2 ligose |
| GRM1glutamate metabotropic receptor 1 | Visada | 1 ligoje |
| GRM7glutamate metabotropic receptor 7 | Visada | 1 ligoje |
| GSX2GS homeobox 2 | Visada | 1 ligoje |
| IFT56intraflagellar transport 56 | Visada | 1 ligoje |
| INTS1integrator complex subunit 1 | Visada | 1 ligoje |
| INTS11integrator complex subunit 11 | Visada | 1 ligoje |
| JAG1jagged canonical Notch ligand 1 | Visada | 1 ligoje |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| KARS1lysyl-tRNA synthetase 1 | Visada | 1 ligoje |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Visada | 1 ligoje |
| KMT2Blysine methyltransferase 2B | Visada | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Visada | 1 ligoje |
| LGI1leucine rich glioma inactivated 1 | Visada | 1 ligoje |
| LRRC7leucine rich repeat containing 7 | Visada | 1 ligoje |
| LSM11LSM11, U7 small nuclear RNA associated | Visada | 1 ligoje |
| MADDMAP kinase activating death domain | Visada | 2 ligose |
| MAP2K1mitogen-activated protein kinase kinase 1 | Visada | 1 ligoje |
| MAP2K2mitogen-activated protein kinase kinase 2 | Visada | 1 ligoje |
| MAPKAPK5MAPK activated protein kinase 5 | Visada | 1 ligoje |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Visada | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Visada | 4 ligose |
| MED16mediator complex subunit 16 | Visada | 1 ligoje |
| MEIS2Meis homeobox 2 | Visada | 1 ligoje |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Visada | 1 ligoje |
| MN1MN1 proto-oncogene, transcriptional regulator | Visada | 1 ligoje |
| MOCS3molybdenum cofactor synthesis 3 | Visada | 1 ligoje |
| MPDU1mannose-P-dolichol utilization defect 1 | Visada | 1 ligoje |
| MRAPmelanocortin 2 receptor accessory protein | Visada | 1 ligoje |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Visada | 1 ligoje |
| NINninein | Visada | 1 ligoje |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Visada | 1 ligoje |
| PGBD5piggyBac transposable element derived 5 | Visada | 1 ligoje |
| PHACTR1phosphatase and actin regulator 1 | Visada | 1 ligoje |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Visada | 1 ligoje |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Visada | 1 ligoje |
| POMKprotein O-mannose kinase | Visada | 1 ligoje |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Visada | 1 ligoje |
| PRMT7protein arginine methyltransferase 7 | Visada | 1 ligoje |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Visada | 1 ligoje |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Visada | 2 ligose |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Visada | 1 ligoje |
| RBL2RB transcriptional corepressor like 2 | Visada | 1 ligoje |
| RNF2ring finger protein 2 | Visada | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Visada | 1 ligoje |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Visada | 1 ligoje |
| SLC25A46solute carrier family 25 member 46 | Visada | 1 ligoje |
| SLC30A9solute carrier family 30 member 9 | Visada | 1 ligoje |
| SLC33A1solute carrier family 33 member 1 | Visada | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Visada | 2 ligose |
| SNIP1Smad nuclear interacting protein 1 | Visada | 1 ligoje |
| SPTBN4spectrin beta, non-erythrocytic 4 | Visada | 1 ligoje |
| ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Visada | 1 ligoje |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Visada | 1 ligoje |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Visada | 1 ligoje |
| TAF8TATA-box binding protein associated factor 8 | Visada | 1 ligoje |
| TM2D3TM2 domain containing 3 | Visada | 1 ligoje |
| TMEM63Btransmembrane protein 63B | Visada | 1 ligoje |
| TRA2Btransformer 2 beta homolog | Visada | 1 ligoje |
| TRAPPC12trafficking protein particle complex subunit 12 | Visada | 2 ligose |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Visada | 1 ligoje |
| TRIM8tripartite motif containing 8 | Visada | 1 ligoje |
| TUBB2Atubulin beta 2A class IIa | Visada | 1 ligoje |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Visada | 1 ligoje |
| UGP2UDP-glucose pyrophosphorylase 2 | Visada | 1 ligoje |
| VPS35LVPS35 endosomal protein sorting factor like | Visada | 1 ligoje |
| VPS4Avacuolar protein sorting 4 homolog A | Visada | 1 ligoje |
| VPS50VPS50 subunit of EARP/GARPII complex | Visada | 1 ligoje |
| VPS51VPS51 subunit of GARP complex | Visada | 1 ligoje |
| VPS53VPS53 subunit of GARP complex | Visada | 1 ligoje |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Visada | 1 ligoje |
| ZNF335zinc finger protein 335 | Visada | 1 ligoje |
| ZPR1ZPR1 zinc finger | Visada | 1 ligoje |
| ABAT4-aminobutyrate aminotransferase | Labai dažnai (80–99%) | 1 ligoje |
| ADSLadenylosuccinate lyase | Labai dažnai (80–99%) | 2 ligose |
| CASKcalcium/calmodulin dependent serine protein kinase | Labai dažnai (80–99%) | 1 ligoje |
| CTNND2catenin delta 2 | Labai dažnai (80–99%) | 1 ligoje |
| DEAF1DEAF1 transcription factor | Labai dažnai (80–99%) | 1 ligoje |
| DOT1LDOT1 like histone lysine methyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Labai dažnai (80–99%) | 1 ligoje |
| EMG1EMG1 N1-specific pseudouridine methyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Labai dažnai (80–99%) | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Labai dažnai (80–99%) | 1 ligoje |
| ERCC5ERCC excision repair 5, endonuclease | Labai dažnai (80–99%) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Labai dažnai (80–99%) | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Labai dažnai (80–99%) | 1 ligoje |
| MED25mediator complex subunit 25 | Labai dažnai (80–99%) | 1 ligoje |
| NEXMIFneurite extension and migration factor | Labai dažnai (80–99%) | 1 ligoje |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Labai dažnai (80–99%) | 1 ligoje |
| PEX1peroxisomal biogenesis factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| PEX10peroxisomal biogenesis factor 10 | Labai dažnai (80–99%) | 2 ligose |
| PEX11Bperoxisomal biogenesis factor 11 beta | Labai dažnai (80–99%) | 1 ligoje |
| PEX12peroxisomal biogenesis factor 12 | Labai dažnai (80–99%) | 1 ligoje |
| PEX13peroxisomal biogenesis factor 13 | Labai dažnai (80–99%) | 1 ligoje |
| PEX14peroxisomal biogenesis factor 14 | Labai dažnai (80–99%) | 1 ligoje |
| PEX16peroxisomal biogenesis factor 16 | Labai dažnai (80–99%) | 2 ligose |
| PEX19peroxisomal biogenesis factor 19 | Labai dažnai (80–99%) | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| PEX26peroxisomal biogenesis factor 26 | Labai dažnai (80–99%) | 1 ligoje |
| PEX3peroxisomal biogenesis factor 3 | Labai dažnai (80–99%) | 2 ligose |
| PEX5peroxisomal biogenesis factor 5 | Labai dažnai (80–99%) | 1 ligoje |
| PEX6peroxisomal biogenesis factor 6 | Labai dažnai (80–99%) | 1 ligoje |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Labai dažnai (80–99%) | 1 ligoje |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Labai dažnai (80–99%) | 2 ligose |
| PRIM1DNA primase subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| PYCR2pyrroline-5-carboxylate reductase 2 | Labai dažnai (80–99%) | 1 ligoje |
| RPS6KA3ribosomal protein S6 kinase A3 | Labai dažnai (80–99%) | 1 ligoje |
| SEMA5Asemaphorin 5A | Labai dažnai (80–99%) | 1 ligoje |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Labai dažnai (80–99%) | 1 ligoje |
| SLC25A19solute carrier family 25 member 19 | Labai dažnai (80–99%) | 1 ligoje |
| SLC9A6solute carrier family 9 member A6 | Labai dažnai (80–99%) | 1 ligoje |
| SNX14sorting nexin 14 | Labai dažnai (80–99%) | 1 ligoje |
| SYT1synaptotagmin 1 | Labai dažnai (80–99%) | 1 ligoje |
| TBR1T-box brain transcription factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| TELO2telomere maintenance 2 | Labai dažnai (80–99%) | 1 ligoje |
| TSEN15tRNA splicing endonuclease subunit 15 | Labai dažnai (80–99%) | 1 ligoje |
| TSEN2tRNA splicing endonuclease subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| TSEN34tRNA splicing endonuclease subunit 34 | Labai dažnai (80–99%) | 1 ligoje |
| TSEN54tRNA splicing endonuclease subunit 54 | Labai dažnai (80–99%) | 3 ligose |
| TUBA8tubulin alpha 8 | Labai dažnai (80–99%) | 1 ligoje |
| TXN2thioredoxin 2 | Labai dažnai (80–99%) | 2 ligose |
| ADKadenosine kinase | Dažnai (30–79%) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Dažnai (30–79%) | 1 ligoje |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Dažnai (30–79%) | 1 ligoje |
| CACNA1Icalcium voltage-gated channel subunit alpha1 I | Dažnai (30–79%) | 1 ligoje |
| CDKL5cyclin dependent kinase like 5 | Dažnai (30–79%) | 2 ligose |
| CLTCL1clathrin heavy chain like 1 | Dažnai (30–79%) | 1 ligoje |
| COG8component of oligomeric golgi complex 8 | Dažnai (30–79%) | 1 ligoje |
| DAG1dystroglycan 1 | Dažnai (30–79%) | 1 ligoje |
| DOCK6dedicator of cytokinesis 6 | Dažnai (30–79%) | 1 ligoje |
| ECHS1enoyl-CoA hydratase, short chain 1 | Dažnai (30–79%) | 1 ligoje |
| EXOC2exocyst complex component 2 | Dažnai (30–79%) | 1 ligoje |
| FGF13fibroblast growth factor 13 | Dažnai (30–79%) | 1 ligoje |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Dažnai (30–79%) | 1 ligoje |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Dažnai (30–79%) | 1 ligoje |
| GTPBP1GTP binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| GTPBP2GTP binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| INSRinsulin receptor | Dažnai (30–79%) | 1 ligoje |
| KATNB1katanin regulatory subunit B1 | Dažnai (30–79%) | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Dažnai (30–79%) | 1 ligoje |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Dažnai (30–79%) | 1 ligoje |
| KDM5Blysine demethylase 5B | Dažnai (30–79%) | 1 ligoje |
| KIF15kinesin family member 15 | Dažnai (30–79%) | 1 ligoje |
| LAMB1laminin subunit beta 1 | Dažnai (30–79%) | 2 ligose |
| MAB21L1mab-21 like 1 | Dažnai (30–79%) | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Dažnai (30–79%) | 1 ligoje |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Dažnai (30–79%) | 1 ligoje |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Dažnai (30–79%) | 1 ligoje |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Dažnai (30–79%) | 1 ligoje |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Dažnai (30–79%) | 1 ligoje |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Dažnai (30–79%) | 1 ligoje |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Dažnai (30–79%) | 1 ligoje |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Dažnai (30–79%) | 1 ligoje |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Dažnai (30–79%) | 1 ligoje |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Dažnai (30–79%) | 1 ligoje |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Dažnai (30–79%) | 1 ligoje |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Dažnai (30–79%) | 1 ligoje |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Dažnai (30–79%) | 1 ligoje |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Dažnai (30–79%) | 1 ligoje |
| NDE1nudE neurodevelopment protein 1 | Dažnai (30–79%) | 1 ligoje |
| NTNG1netrin G1 | Dažnai (30–79%) | 1 ligoje |
| PHGDHphosphoglycerate dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Dažnai (30–79%) | 1 ligoje |
| PSMC3proteasome 26S subunit, ATPase 3 | Dažnai (30–79%) | 1 ligoje |
| PURApurine rich element binding protein A | Dažnai (30–79%) | 1 ligoje |
| RELNreelin | Dažnai (30–79%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Dažnai (30–79%) | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | Dažnai (30–79%) | 1 ligoje |
| RTTNrotatin | Dažnai (30–79%) | 1 ligoje |
| SATB2SATB homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| TBCKTBC1 domain containing kinase | Dažnai (30–79%) | 1 ligoje |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Dažnai (30–79%) | 1 ligoje |
| TUBB3tubulin beta 3 class III | Dažnai (30–79%) | 1 ligoje |
| WDR26WD repeat domain 26 | Dažnai (30–79%) | 1 ligoje |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| CYB5Acytochrome b5 type A | Kartais (5–29%) | 1 ligoje |
| CYB5R3cytochrome b5 reductase 3 | Kartais (5–29%) | 1 ligoje |
| DHRS3dehydrogenase/reductase 3 | Kartais (5–29%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| DPYDdihydropyrimidine dehydrogenase | Kartais (5–29%) | 1 ligoje |
| EXTL3exostosin like glycosyltransferase 3 | Kartais (5–29%) | 1 ligoje |
| FOXP2forkhead box P2 | Kartais (5–29%) | 1 ligoje |
| GLYCTKglycerate kinase | Kartais (5–29%) | 1 ligoje |
| H4C5H4 clustered histone 5 | Kartais (5–29%) | 1 ligoje |
| KCNK3potassium two pore domain channel subfamily K member 3 | Kartais (5–29%) | 1 ligoje |
| KDM2Blysine demethylase 2B | Kartais (5–29%) | 1 ligoje |
| MEG3maternally expressed 3 | Kartais (5–29%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Kartais (5–29%) | 1 ligoje |
| NKX6-2NK6 homeobox 2 | Kartais (5–29%) | 1 ligoje |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Kartais (5–29%) | 1 ligoje |
| POLRMTRNA polymerase mitochondrial | Kartais (5–29%) | 1 ligoje |
| PRORPprotein only RNase P catalytic subunit | Kartais (5–29%) | 1 ligoje |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Kartais (5–29%) | 1 ligoje |
| RNASET2ribonuclease T2 | Kartais (5–29%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Kartais (5–29%) | 1 ligoje |
| STRADASTE20 related adaptor alpha | Kartais (5–29%) | 1 ligoje |
| TANGO2transport and golgi organization 2 homolog | Kartais (5–29%) | 1 ligoje |
| TBL1XR1TBL1X/Y related 1 | Kartais (5–29%) | 1 ligoje |
| WDR62WD repeat domain 62 | Kartais (5–29%) | 1 ligoje |
| YY1YY1 transcription factor | Kartais (5–29%) | 1 ligoje |
| ABCC6ATP binding cassette subfamily C member 6 | Retai (1–4 %) | 1 ligoje |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Retai (1–4 %) | 1 ligoje |
| FOXA2forkhead box A2 | Retai (1–4 %) | 1 ligoje |
| HESX1HESX homeobox 1 | Retai (1–4 %) | 1 ligoje |
| LHX4LIM homeobox 4 | Retai (1–4 %) | 1 ligoje |
| OTX2orthodenticle homeobox 2 | Retai (1–4 %) | 1 ligoje |
| POU1F1POU class 1 homeobox 1 | Retai (1–4 %) | 1 ligoje |
| PROP1PROP paired-like homeobox 1 | Retai (1–4 %) | 1 ligoje |
| ACOX1acyl-CoA oxidase 1 | Neužfiksuota | 1 ligoje |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Neužfiksuota | 1 ligoje |
| DEGS1delta 4-desaturase, sphingolipid 1 | Neužfiksuota | 1 ligoje |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Neužfiksuota | 1 ligoje |
| DYMdymeclin | Neužfiksuota | 1 ligoje |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Neužfiksuota | 1 ligoje |
| FBXL4F-box and leucine rich repeat protein 4 | Neužfiksuota | 1 ligoje |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Neužfiksuota | 1 ligoje |
| PLCB3phospholipase C beta 3 | Neužfiksuota | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Neužfiksuota | 1 ligoje |
| RNASEH2Aribonuclease H2 subunit A | Neužfiksuota | 1 ligoje |
| RNASEH2Cribonuclease H2 subunit C | Neužfiksuota | 1 ligoje |
| SLC16A2solute carrier family 16 member 2 | Neužfiksuota | 1 ligoje |
| STAMBPSTAM binding protein | Neužfiksuota | 1 ligoje |
| STXBP1syntaxin binding protein 1 | Neužfiksuota | 1 ligoje |
| UGDHUDP-glucose 6-dehydrogenase | Neužfiksuota | 1 ligoje |
| UNC80unc-80 subunit of NALCN channel complex | Neužfiksuota | 1 ligoje |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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