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PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymis
Mild global developmental delay
A mild delay in the achievement of motor or mental milestones in the domains of development of a child.
Santrauka
- Taip pat vadinama
- Global developmental delay, mild
- Kūno sistema
- Abnormality of the nervous system
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Ši puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/mild-global-developmental-delay.json"
page <- fromJSON(url)
page$trait$nameMild global developmental delayHP:0011342
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Mild global developmental delay, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test113 genų susiję su Mild global developmental delay
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Mild 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 |
|---|---|---|
| ABCA2ATP binding cassette subfamily A member 2 | Visada | 1 ligoje |
| ACTBactin beta | Visada | 2 ligose |
| AMTaminomethyltransferase | Visada | 1 ligoje |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Visada | 1 ligoje |
| ATP5F1BATP synthase F1 subunit beta | Visada | 1 ligoje |
| CDC6cell division cycle 6 | Visada | 1 ligoje |
| CENATACcentrosomal AT-AC splicing factor | Visada | 1 ligoje |
| DHTKD1dehydrogenase E1 and transketolase domain containing 1 | 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 |
| ERMARDER membrane associated RNA degradation | Visada | 1 ligoje |
| FLVCR1FLVCR choline and heme transporter 1 | Visada | 1 ligoje |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Visada | 1 ligoje |
| GTF2H4general transcription factor IIH subunit 4 | Visada | 1 ligoje |
| LRRC7leucine rich repeat containing 7 | Visada | 1 ligoje |
| NFE2L2NFE2 like bZIP transcription factor 2 | Visada | 1 ligoje |
| NOTCH3notch receptor 3 | Visada | 1 ligoje |
| POLR1ARNA polymerase I subunit A | Visada | 1 ligoje |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Visada | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Visada | 1 ligoje |
| RAI1retinoic acid induced 1 | Visada | 1 ligoje |
| SGSM3small G protein signaling modulator 3 | Visada | 1 ligoje |
| TMEM163transmembrane protein 163 | Visada | 1 ligoje |
| ATRATR checkpoint kinase | Labai dažnai (80–99%) | 1 ligoje |
| ATRIPATR interacting protein | Labai dažnai (80–99%) | 1 ligoje |
| CENPEcentromere protein E | Labai dažnai (80–99%) | 1 ligoje |
| CEP152centrosomal protein 152 | Labai dažnai (80–99%) | 1 ligoje |
| CEP295centrosomal protein 295 | Labai dažnai (80–99%) | 1 ligoje |
| CEP63centrosomal protein 63 | Labai dažnai (80–99%) | 1 ligoje |
| CPAPcentrosome assembly and centriole elongation protein | Labai dažnai (80–99%) | 1 ligoje |
| DNA2DNA replication helicase/nuclease 2 | Labai dažnai (80–99%) | 1 ligoje |
| MCM4minichromosome maintenance complex component 4 | Labai dažnai (80–99%) | 1 ligoje |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Labai dažnai (80–99%) | 1 ligoje |
| NINninein | Labai dažnai (80–99%) | 1 ligoje |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Labai dažnai (80–99%) | 1 ligoje |
| NUP85nucleoporin 85 | Labai dažnai (80–99%) | 1 ligoje |
| PCNTpericentrin | Labai dažnai (80–99%) | 1 ligoje |
| PLK4polo like kinase 4 | Labai dažnai (80–99%) | 1 ligoje |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Labai dažnai (80–99%) | 1 ligoje |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 73 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Labai dažnai (80–99%) | 1 ligoje |
| RBBP8RB binding protein 8, endonuclease | Labai dažnai (80–99%) | 2 ligose |
| TBX4T-box transcription factor 4 | Labai dažnai (80–99%) | 1 ligoje |
| TRAIPTRAF interacting protein | Labai dažnai (80–99%) | 1 ligoje |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Labai dažnai (80–99%) | 1 ligoje |
| ABCC8ATP binding cassette subfamily C member 8 | Dažnai (30–79%) | 1 ligoje |
| ASPAaspartoacylase | Dažnai (30–79%) | 1 ligoje |
| CDH2cadherin 2 | Dažnai (30–79%) | 1 ligoje |
| DHRS3dehydrogenase/reductase 3 | Dažnai (30–79%) | 1 ligoje |
| DOLKdolichol kinase | Dažnai (30–79%) | 1 ligoje |
| GJA1gap junction protein alpha 1 | Dažnai (30–79%) | 2 ligose |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Dažnai (30–79%) | 1 ligoje |
| KCNK3potassium two pore domain channel subfamily K member 3 | Dažnai (30–79%) | 1 ligoje |
| KDM2Blysine demethylase 2B | Dažnai (30–79%) | 1 ligoje |
| MAP1Bmicrotubule associated protein 1B | Dažnai (30–79%) | 1 ligoje |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Dažnai (30–79%) | 1 ligoje |
| PEPDpeptidase D | Dažnai (30–79%) | 1 ligoje |
| RPS6KC1ribosomal protein S6 kinase C1 | Dažnai (30–79%) | 1 ligoje |
| SF3B2splicing factor 3b subunit 2 | Dažnai (30–79%) | 1 ligoje |
| SNF8SNF8 subunit of ESCRT-II | Dažnai (30–79%) | 1 ligoje |
| TOP3ADNA topoisomerase III alpha | Dažnai (30–79%) | 1 ligoje |
| TPP2tripeptidyl peptidase 2 | Dažnai (30–79%) | 1 ligoje |
| WDR26WD repeat domain 26 | Dažnai (30–79%) | 1 ligoje |
| AASSaminoadipate-semialdehyde synthase | Kartais (5–29%) | 1 ligoje |
| ACAD8acyl-CoA dehydrogenase family member 8 | Kartais (5–29%) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Kartais (5–29%) | 1 ligoje |
| ALBalbumin | Kartais (5–29%) | 1 ligoje |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Kartais (5–29%) | 1 ligoje |
| ALMS1ALMS1 centrosome and basal body associated protein | Kartais (5–29%) | 1 ligoje |
| B4GALT7beta-1,4-galactosyltransferase 7 | Kartais (5–29%) | 1 ligoje |
| CABP4calcium binding protein 4 | Kartais (5–29%) | 1 ligoje |
| COG1component of oligomeric golgi complex 1 | Kartais (5–29%) | 2 ligose |
| CTNNB1catenin beta 1 | Kartais (5–29%) | 1 ligoje |
| CTSKcathepsin K | Kartais (5–29%) | 1 ligoje |
| DBR1debranching RNA lariats 1 | Kartais (5–29%) | 1 ligoje |
| DOT1LDOT1 like histone lysine methyltransferase | Kartais (5–29%) | 1 ligoje |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Kartais (5–29%) | 1 ligoje |
| FTCDformimidoyltransferase cyclodeaminase | Kartais (5–29%) | 1 ligoje |
| FZD4frizzled class receptor 4 | Kartais (5–29%) | 1 ligoje |
| GNB2G protein subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| IARS1isoleucyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Kartais (5–29%) | 1 ligoje |
| LCA5lebercilin LCA5 | Kartais (5–29%) | 1 ligoje |
| LRATlecithin retinol acyltransferase | Kartais (5–29%) | 1 ligoje |
| LRP5LDL receptor related protein 5 | Kartais (5–29%) | 2 ligose |
| NDPnorrin cystine knot growth factor NDP | Kartais (5–29%) | 1 ligoje |
| OTX2orthodenticle homeobox 2 | Kartais (5–29%) | 1 ligoje |
| PHKBphosphorylase kinase regulatory subunit beta | Kartais (5–29%) | 1 ligoje |
| PLCB4phospholipase C beta 4 | Kartais (5–29%) | 1 ligoje |
| PLP1proteolipid protein 1 | Kartais (5–29%) | 1 ligoje |
| POLRMTRNA polymerase mitochondrial | Kartais (5–29%) | 1 ligoje |
| PRPH2peripherin 2 | Kartais (5–29%) | 1 ligoje |
| PTF1Apancreas associated transcription factor 1a | Kartais (5–29%) | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | Kartais (5–29%) | 1 ligoje |
| RPE65retinoid isomerohydrolase RPE65 | Kartais (5–29%) | 1 ligoje |
| RRAS2RAS related 2 | Kartais (5–29%) | 1 ligoje |
| SEC61A1SEC61 translocon subunit alpha 1 | Kartais (5–29%) | 1 ligoje |
| SIX1SIX homeobox 1 | Kartais (5–29%) | 1 ligoje |
| SOX3SRY-box transcription factor 3 | Kartais (5–29%) | 1 ligoje |
| SOX9SRY-box transcription factor 9 | Kartais (5–29%) | 1 ligoje |
| SPATA7spermatogenesis associated 7 | Kartais (5–29%) | 1 ligoje |
| TANGO2transport and golgi organization 2 homolog | Kartais (5–29%) | 1 ligoje |
| TBX2T-box transcription factor 2 | Kartais (5–29%) | 1 ligoje |
| TSPAN12tetraspanin 12 | Kartais (5–29%) | 1 ligoje |
| ZNF408zinc finger protein 408 | Kartais (5–29%) | 1 ligoje |
| RCC1regulator of chromosome condensation 1 | Retai (1–4 %) | 1 ligoje |
| TCF12transcription factor 12 | Retai (1–4 %) | 1 ligoje |
| NONOnon-POU domain containing octamer binding | Neužfiksuota | 1 ligoje |
| NSMCE3NSE3 component of SMC5/6 complex | Neužfiksuota | 1 ligoje |
| RNF168ring finger protein 168 | Neužfiksuota | 1 ligoje |
| ZNF462zinc finger protein 462 | 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 2026.10.17-8666dff2.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
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Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites