Požymis
Delayed ability to sit
A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.
Santrauka
- 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 Delayed ability to sit, and the rest of your genome, with one test.
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Įsigyti savo Genome Test109 genų susiję su Delayed ability to sit
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Delayed ability to sit. 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 |
|---|---|---|
| ACTA1actin alpha 1, skeletal muscle | Visada | 1 ligoje |
| ADCY5adenylate cyclase 5 | Visada | 2 ligose |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Visada | 1 ligoje |
| ARID2AT-rich interaction domain 2 | Visada | 1 ligoje |
| ASPNATaspartate N-acetyltransferase | Visada | 1 ligoje |
| BORCS8BLOC-1 related complex subunit 8 | Visada | 1 ligoje |
| CDK13cyclin dependent kinase 13 | Visada | 1 ligoje |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Visada | 1 ligoje |
| CHRNDcholinergic receptor nicotinic delta subunit | Visada | 1 ligoje |
| CLDN11claudin 11 | Visada | 1 ligoje |
| COL3A1collagen type III alpha 1 chain | Visada | 1 ligoje |
| COX18cytochrome c oxidase assembly factor COX18 | Visada | 1 ligoje |
| CUL3cullin 3 | Visada | 1 ligoje |
| DCPSdecapping enzyme, scavenger | Visada | 1 ligoje |
| DNM1Ldynamin 1L | Visada | 1 ligoje |
| DOT1LDOT1 like histone lysine methyltransferase | Visada | 1 ligoje |
| DPYSL5dihydropyrimidinase like 5 | Visada | 1 ligoje |
| ESAMendothelial cell adhesion molecule | Visada | 1 ligoje |
| FOXG1forkhead box G1 | Visada | 1 ligoje |
| GET4guided entry of tail-anchored proteins factor 4 | Visada | 1 ligoje |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Visada | 1 ligoje |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Visada | 1 ligoje |
| GTPBP2GTP binding protein 2 | Visada | 1 ligoje |
| IFT140intraflagellar transport 140 | Visada | 1 ligoje |
| INPP5Einositol polyphosphate-5-phosphatase E | Visada | 1 ligoje |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Visada | 2 ligose |
| JPH1junctophilin 1 | Visada | 1 ligoje |
| KAT6Alysine acetyltransferase 6A | Visada | 1 ligoje |
| KDM2Blysine demethylase 2B | Visada | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Visada | 1 ligoje |
| LGI1leucine rich glioma inactivated 1 | Visada | 1 ligoje |
| LRRC7leucine rich repeat containing 7 | Visada | 1 ligoje |
| MDH2malate dehydrogenase 2 | Visada | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Visada | 2 ligose |
| MED16mediator complex subunit 16 | Visada | 1 ligoje |
| MEF2Cmyocyte enhancer factor 2C | Visada | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Visada | 1 ligoje |
| NEUROD2neuronal differentiation 2 | Visada | 1 ligoje |
| OPA1OPA1 mitochondrial dynamin like GTPase | Visada | 1 ligoje |
| OTUD7AOTU deubiquitinase 7A | Visada | 1 ligoje |
Rodyti dar 69 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Visada | 1 ligoje |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Visada | 1 ligoje |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Visada | 1 ligoje |
| RBL2RB transcriptional corepressor like 2 | Visada | 1 ligoje |
| RFC4replication factor C subunit 4 | Visada | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | Visada | 1 ligoje |
| ROBO3roundabout guidance receptor 3 | Visada | 1 ligoje |
| SLC18A2solute carrier family 18 member A2 | Visada | 1 ligoje |
| SLC25A42solute carrier family 25 member 42 | Visada | 1 ligoje |
| SLC39A8solute carrier family 39 member 8 | Visada | 1 ligoje |
| SONSON DNA and RNA binding protein | Visada | 1 ligoje |
| TAF8TATA-box binding protein associated factor 8 | Visada | 1 ligoje |
| VAMP1vesicle associated membrane protein 1 | Visada | 1 ligoje |
| VPS35LVPS35 endosomal protein sorting factor like | Visada | 1 ligoje |
| VPS51VPS51 subunit of GARP complex | Visada | 1 ligoje |
| WDR83OSWD repeat domain 83 opposite strand | Visada | 1 ligoje |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Visada | 1 ligoje |
| AHDC1AT-hook DNA binding motif containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| FTH1ferritin heavy chain 1 | Labai dažnai (80–99%) | 1 ligoje |
| GAAalpha glucosidase | Labai dažnai (80–99%) | 1 ligoje |
| GNAI1G protein subunit alpha i1 | Labai dažnai (80–99%) | 1 ligoje |
| H3-3AH3.3 histone A | Labai dažnai (80–99%) | 1 ligoje |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Labai dažnai (80–99%) | 1 ligoje |
| NARS1asparaginyl-tRNA synthetase 1 | Labai dažnai (80–99%) | 2 ligose |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Labai dažnai (80–99%) | 1 ligoje |
| SNX14sorting nexin 14 | Labai dažnai (80–99%) | 1 ligoje |
| TAF4TATA-box binding protein associated factor 4 | Labai dažnai (80–99%) | 1 ligoje |
| TTC5tetratricopeptide repeat domain 5 | Labai dažnai (80–99%) | 1 ligoje |
| UGDHUDP-glucose 6-dehydrogenase | Labai dažnai (80–99%) | 1 ligoje |
| ADGRL1adhesion G protein-coupled receptor L1 | Dažnai (30–79%) | 1 ligoje |
| CASKcalcium/calmodulin dependent serine protein kinase | Dažnai (30–79%) | 1 ligoje |
| CELF2CUGBP Elav-like family member 2 | Dažnai (30–79%) | 1 ligoje |
| CTBP1C-terminal binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| CTNNB1catenin beta 1 | Dažnai (30–79%) | 1 ligoje |
| DAG1dystroglycan 1 | Dažnai (30–79%) | 1 ligoje |
| EIF3Feukaryotic translation initiation factor 3 subunit F | Dažnai (30–79%) | 1 ligoje |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| EXTL3exostosin like glycosyltransferase 3 | Dažnai (30–79%) | 1 ligoje |
| FEM1Bfem-1 homolog B | Dažnai (30–79%) | 1 ligoje |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| HIVEP2HIVEP zinc finger 2 | Dažnai (30–79%) | 1 ligoje |
| HK1hexokinase 1 | Dažnai (30–79%) | 1 ligoje |
| MACF1microtubule actin crosslinking factor 1 | Dažnai (30–79%) | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Dažnai (30–79%) | 1 ligoje |
| MBD5methyl-CpG binding domain protein 5 | Dažnai (30–79%) | 1 ligoje |
| NEXMIFneurite extension and migration factor | Dažnai (30–79%) | 1 ligoje |
| OPHN1oligophrenin 1 | Dažnai (30–79%) | 1 ligoje |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Dažnai (30–79%) | 1 ligoje |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Dažnai (30–79%) | 1 ligoje |
| PLP1proteolipid protein 1 | Dažnai (30–79%) | 1 ligoje |
| POLR3KRNA polymerase III subunit K | Dažnai (30–79%) | 1 ligoje |
| PPFIA3PPFI scaffold protein A3 | Dažnai (30–79%) | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Dažnai (30–79%) | 1 ligoje |
| SGSM3small G protein signaling modulator 3 | Dažnai (30–79%) | 1 ligoje |
| SIK3SIK family kinase 3 | Dažnai (30–79%) | 1 ligoje |
| TRIM8tripartite motif containing 8 | Dažnai (30–79%) | 1 ligoje |
| TUBB3tubulin beta 3 class III | Dažnai (30–79%) | 1 ligoje |
| WASF1WASP family member 1 | Dažnai (30–79%) | 1 ligoje |
| WDR26WD repeat domain 26 | Dažnai (30–79%) | 1 ligoje |
| ALMS1ALMS1 centrosome and basal body associated protein | Kartais (5–29%) | 1 ligoje |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Kartais (5–29%) | 1 ligoje |
| NGLY1N-glycanase 1 | Kartais (5–29%) | 1 ligoje |
| SATB1SATB homeobox 1 | Kartais (5–29%) | 1 ligoje |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Kartais (5–29%) | 1 ligoje |
| SLC9A7solute carrier family 9 member A7 | Kartais (5–29%) | 1 ligoje |
| TRIOtrio Rho guanine nucleotide exchange factor | Kartais (5–29%) | 1 ligoje |
| VRK1VRK serine/threonine kinase 1 | Kartais (5–29%) | 1 ligoje |
| ZNF142zinc finger protein 142 | Kartais (5–29%) | 1 ligoje |
| POLR2ARNA polymerase II subunit A | 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.
Platesni požymiai
Iš kur tai žinoma
- 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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