Požymis
Neurodevelopmental delay
Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.
Santrauka
- Taip pat vadinama
- NDD
- 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 Neurodevelopmental delay, and the rest of your genome, with one test.
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Įsigyti savo Genome Test206 genų susiję su Neurodevelopmental delay
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Neurodevelopmental 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 |
|---|---|---|
| ARID2AT-rich interaction domain 2 | Visada | 1 ligoje |
| DRG1developmentally regulated GTP binding protein 1 | Visada | 1 ligoje |
| IL6STinterleukin 6 cytokine family signal transducer | Visada | 1 ligoje |
| TRIM71tripartite motif containing 71 | Visada | 1 ligoje |
| ARL6ARF like GTPase 6 | Labai dažnai (80–99%) | 1 ligoje |
| ASXL1ASXL transcriptional regulator 1 | Labai dažnai (80–99%) | 1 ligoje |
| BBIP1BBSome interacting protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| BBS1Bardet-Biedl syndrome 1 | Labai dažnai (80–99%) | 1 ligoje |
| BBS10Bardet-Biedl syndrome 10 | Labai dažnai (80–99%) | 1 ligoje |
| BBS12Bardet-Biedl syndrome 12 | Labai dažnai (80–99%) | 1 ligoje |
| BBS2Bardet-Biedl syndrome 2 | Labai dažnai (80–99%) | 1 ligoje |
| BBS4Bardet-Biedl syndrome 4 | Labai dažnai (80–99%) | 1 ligoje |
| BBS5Bardet-Biedl syndrome 5 | Labai dažnai (80–99%) | 1 ligoje |
| BBS7Bardet-Biedl syndrome 7 | Labai dažnai (80–99%) | 1 ligoje |
| BBS9Bardet-Biedl syndrome 9 | Labai dažnai (80–99%) | 1 ligoje |
| CEP19centrosomal protein 19 | Labai dažnai (80–99%) | 1 ligoje |
| CEP290centrosomal protein 290 | Labai dažnai (80–99%) | 1 ligoje |
| CEP85Lcentrosomal protein 85L | Labai dažnai (80–99%) | 1 ligoje |
| CFAP418cilia and flagella associated protein 418 | Labai dažnai (80–99%) | 1 ligoje |
| CHD8chromodomain helicase DNA binding protein 8 | Labai dažnai (80–99%) | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Labai dažnai (80–99%) | 1 ligoje |
| DLDdihydrolipoamide dehydrogenase | Labai dažnai (80–99%) | 1 ligoje |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Labai dažnai (80–99%) | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Labai dažnai (80–99%) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Labai dažnai (80–99%) | 2 ligose |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Labai dažnai (80–99%) | 2 ligose |
| FBXO22F-box protein 22 | Labai dažnai (80–99%) | 1 ligoje |
| HEXBhexosaminidase subunit beta | Labai dažnai (80–99%) | 1 ligoje |
| IFT172intraflagellar transport 172 | Labai dažnai (80–99%) | 1 ligoje |
| IFT27intraflagellar transport 27 | Labai dažnai (80–99%) | 1 ligoje |
| IFT74intraflagellar transport 74 | Labai dažnai (80–99%) | 1 ligoje |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Labai dažnai (80–99%) | 1 ligoje |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Labai dažnai (80–99%) | 1 ligoje |
| KDM6Alysine demethylase 6A | Labai dažnai (80–99%) | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Labai dažnai (80–99%) | 1 ligoje |
| LZTFL1leucine zipper transcription factor like 1 | Labai dažnai (80–99%) | 1 ligoje |
| MACF1microtubule actin crosslinking factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| MAGEL2MAGE family member L2 | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 166 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| MIR17HGmiR-17-92a-1 cluster host gene | Labai dažnai (80–99%) | 1 ligoje |
| MKKSMKKS centrosomal shuttling protein | Labai dažnai (80–99%) | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| NALCNsodium leak channel, non-selective | Labai dažnai (80–99%) | 1 ligoje |
| NPHP1nephrocystin 1 | Labai dažnai (80–99%) | 1 ligoje |
| OCA2OCA2 melanosomal transmembrane protein | Labai dažnai (80–99%) | 1 ligoje |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Labai dažnai (80–99%) | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Labai dažnai (80–99%) | 1 ligoje |
| PLCB1phospholipase C beta 1 | Labai dažnai (80–99%) | 1 ligoje |
| SCAPERS-phase cyclin A associated protein in the ER | Labai dažnai (80–99%) | 1 ligoje |
| SCLT1sodium channel and clathrin linker 1 | Labai dažnai (80–99%) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Labai dažnai (80–99%) | 2 ligose |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Labai dažnai (80–99%) | 2 ligose |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Labai dažnai (80–99%) | 1 ligoje |
| SETBP1SET binding protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| SLC12A5solute carrier family 12 member 5 | Labai dažnai (80–99%) | 1 ligoje |
| SLC25A15solute carrier family 25 member 15 | Labai dažnai (80–99%) | 1 ligoje |
| SLC25A22solute carrier family 25 member 22 | Labai dažnai (80–99%) | 1 ligoje |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Labai dažnai (80–99%) | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Labai dažnai (80–99%) | 1 ligoje |
| TRIM32tripartite motif containing 32 | Labai dažnai (80–99%) | 1 ligoje |
| TTC8tetratricopeptide repeat domain 8 | Labai dažnai (80–99%) | 1 ligoje |
| UBE3Aubiquitin protein ligase E3A | Labai dažnai (80–99%) | 1 ligoje |
| WDPCPWD repeat containing planar cell polarity effector | Labai dažnai (80–99%) | 1 ligoje |
| AASSaminoadipate-semialdehyde synthase | Dažnai (30–79%) | 2 ligose |
| ABCC8ATP binding cassette subfamily C member 8 | Dažnai (30–79%) | 2 ligose |
| ACADSacyl-CoA dehydrogenase short chain | Dažnai (30–79%) | 1 ligoje |
| ADARadenosine deaminase RNA specific | Dažnai (30–79%) | 1 ligoje |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Dažnai (30–79%) | 1 ligoje |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Dažnai (30–79%) | 1 ligoje |
| ASLargininosuccinate lyase | Dažnai (30–79%) | 1 ligoje |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Dažnai (30–79%) | 1 ligoje |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Dažnai (30–79%) | 1 ligoje |
| ATP5F1AATP synthase F1 subunit alpha | Dažnai (30–79%) | 1 ligoje |
| ATP5F1DATP synthase F1 subunit delta | Dažnai (30–79%) | 1 ligoje |
| ATP5F1EATP synthase F1 subunit epsilon | Dažnai (30–79%) | 1 ligoje |
| ATP5MKATP synthase membrane subunit k | Dažnai (30–79%) | 1 ligoje |
| ATP5POATP synthase peripheral stalk subunit OSCP | Dažnai (30–79%) | 1 ligoje |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Dažnai (30–79%) | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Dažnai (30–79%) | 2 ligose |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Dažnai (30–79%) | 2 ligose |
| CBLCbl proto-oncogene | Dažnai (30–79%) | 1 ligoje |
| CHD2chromodomain helicase DNA binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| CTCFCCCTC-binding factor | Dažnai (30–79%) | 1 ligoje |
| CUX2cut like homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Dažnai (30–79%) | 1 ligoje |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Dažnai (30–79%) | 1 ligoje |
| DNM1dynamin 1 | Dažnai (30–79%) | 1 ligoje |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Dažnai (30–79%) | 1 ligoje |
| DUOX2dual oxidase 2 | Dažnai (30–79%) | 1 ligoje |
| DUOXA2dual oxidase maturation factor 2 | Dažnai (30–79%) | 1 ligoje |
| ETHE1ETHE1 persulfide dioxygenase | Dažnai (30–79%) | 1 ligoje |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Dažnai (30–79%) | 1 ligoje |
| GCKglucokinase | Dažnai (30–79%) | 1 ligoje |
| GNAQG protein subunit alpha q | Dažnai (30–79%) | 1 ligoje |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Dažnai (30–79%) | 1 ligoje |
| HESX1HESX homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| HPD4-hydroxyphenylpyruvate dioxygenase | Dažnai (30–79%) | 1 ligoje |
| IFNGinterferon gamma | Dažnai (30–79%) | 1 ligoje |
| INSinsulin | Dažnai (30–79%) | 1 ligoje |
| IYDiodotyrosine deiodinase | Dažnai (30–79%) | 1 ligoje |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Dažnai (30–79%) | 3 ligose |
| KMT2Blysine methyltransferase 2B | Dažnai (30–79%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Dažnai (30–79%) | 1 ligoje |
| LHX3LIM homeobox 3 | Dažnai (30–79%) | 1 ligoje |
| LHX4LIM homeobox 4 | Dažnai (30–79%) | 1 ligoje |
| LMBRD1LMBR1 domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| LZTR1leucine zipper like post translational regulator 1 | Dažnai (30–79%) | 1 ligoje |
| MAPK10mitogen-activated protein kinase 10 | Dažnai (30–79%) | 1 ligoje |
| MID1midline 1 | Dažnai (30–79%) | 1 ligoje |
| MRASmuscle RAS oncogene homolog | Dažnai (30–79%) | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Dažnai (30–79%) | 2 ligose |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Dažnai (30–79%) | 1 ligoje |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Dažnai (30–79%) | 1 ligoje |
| MYSM1Myb like, SWIRM and MPN domains 1 | Dažnai (30–79%) | 1 ligoje |
| NF1neurofibromin 1 | Dažnai (30–79%) | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Dažnai (30–79%) | 2 ligose |
| NUP54nucleoporin 54 | Dažnai (30–79%) | 1 ligoje |
| NUP62nucleoporin 62 | Dažnai (30–79%) | 1 ligoje |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Dažnai (30–79%) | 1 ligoje |
| PDHBpyruvate dehydrogenase E1 subunit beta | Dažnai (30–79%) | 1 ligoje |
| PDX1pancreatic and duodenal homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Dažnai (30–79%) | 1 ligoje |
| PLPBPpyridoxal phosphate binding protein | Dažnai (30–79%) | 1 ligoje |
| POU1F1POU class 1 homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| PROP1PROP paired-like homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Dažnai (30–79%) | 1 ligoje |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Dažnai (30–79%) | 2 ligose |
| RASA2RAS p21 protein activator 2 | Dažnai (30–79%) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| RIT1Ras like without CAAX 1 | Dažnai (30–79%) | 1 ligoje |
| RRASRAS related | Dažnai (30–79%) | 1 ligoje |
| RRAS2RAS related 2 | Dažnai (30–79%) | 1 ligoje |
| SIM1SIM bHLH transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| SKIC3SKI3 subunit of superkiller complex | Dažnai (30–79%) | 1 ligoje |
| SLC1A3solute carrier family 1 member 3 | Dažnai (30–79%) | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Dažnai (30–79%) | 1 ligoje |
| SLC5A5solute carrier family 5 member 5 | Dažnai (30–79%) | 1 ligoje |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Dažnai (30–79%) | 1 ligoje |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Dažnai (30–79%) | 1 ligoje |
| SPRED2sprouty related EVH1 domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| STAT3signal transducer and activator of transcription 3 | Dažnai (30–79%) | 1 ligoje |
| TGthyroglobulin | Dažnai (30–79%) | 1 ligoje |
| TINF2TERF1 interacting nuclear factor 2 | Dažnai (30–79%) | 1 ligoje |
| TPOthyroid peroxidase | Dažnai (30–79%) | 1 ligoje |
| TRHRthyrotropin releasing hormone receptor | Dažnai (30–79%) | 1 ligoje |
| TSC1TSC complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| TSC2TSC complex subunit 2 | Dažnai (30–79%) | 1 ligoje |
| TSHBthyroid stimulating hormone subunit beta | Dažnai (30–79%) | 1 ligoje |
| ZNF462zinc finger protein 462 | Dažnai (30–79%) | 1 ligoje |
| ADA2adenosine deaminase 2 | Kartais (5–29%) | 1 ligoje |
| ALKALK receptor tyrosine kinase | Kartais (5–29%) | 1 ligoje |
| CBScystathionine beta-synthase | Kartais (5–29%) | 1 ligoje |
| COQ8Acoenzyme Q8A | Kartais (5–29%) | 1 ligoje |
| DPYSdihydropyrimidinase | Kartais (5–29%) | 1 ligoje |
| FOCADfocadhesin | Kartais (5–29%) | 1 ligoje |
| FOXP2forkhead box P2 | Kartais (5–29%) | 1 ligoje |
| FTCDformimidoyltransferase cyclodeaminase | Kartais (5–29%) | 1 ligoje |
| GATA1GATA binding protein 1 | Kartais (5–29%) | 1 ligoje |
| GJB2gap junction protein beta 2 | Kartais (5–29%) | 1 ligoje |
| GJB6gap junction protein beta 6 | Kartais (5–29%) | 1 ligoje |
| HEATR3HEAT repeat containing 3 | Kartais (5–29%) | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Kartais (5–29%) | 1 ligoje |
| HYMAIhydatidiform mole associated and imprinted | Kartais (5–29%) | 1 ligoje |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Kartais (5–29%) | 1 ligoje |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Kartais (5–29%) | 1 ligoje |
| LEMD3LEM domain containing 3 | Kartais (5–29%) | 1 ligoje |
| MMACHCmetabolism of cobalamin associated C | Kartais (5–29%) | 1 ligoje |
| PAX2paired box 2 | Kartais (5–29%) | 1 ligoje |
| PBX1PBX homeobox 1 | Kartais (5–29%) | 1 ligoje |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Kartais (5–29%) | 1 ligoje |
| PCK1phosphoenolpyruvate carboxykinase 1 | Kartais (5–29%) | 1 ligoje |
| PCK2phosphoenolpyruvate carboxykinase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| PLAGL1PLAG1 like zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| PLP1proteolipid protein 1 | Kartais (5–29%) | 1 ligoje |
| RPL11ribosomal protein L11 | Kartais (5–29%) | 1 ligoje |
| RPL15ribosomal protein L15 | Kartais (5–29%) | 1 ligoje |
| RPL18ribosomal protein L18 | Kartais (5–29%) | 1 ligoje |
| RPL26ribosomal protein L26 | Kartais (5–29%) | 1 ligoje |
| RPL27ribosomal protein L27 | Kartais (5–29%) | 1 ligoje |
| RPL31ribosomal protein L31 | Kartais (5–29%) | 1 ligoje |
| RPL35ribosomal protein L35 | Kartais (5–29%) | 1 ligoje |
| RPL35Aribosomal protein L35a | Kartais (5–29%) | 1 ligoje |
| RPL5ribosomal protein L5 | Kartais (5–29%) | 1 ligoje |
| RPL8ribosomal protein L8 | Kartais (5–29%) | 1 ligoje |
| RPL9ribosomal protein L9 | Kartais (5–29%) | 1 ligoje |
| RPS10ribosomal protein S10 | Kartais (5–29%) | 1 ligoje |
| RPS15Aribosomal protein S15a | Kartais (5–29%) | 1 ligoje |
| RPS17ribosomal protein S17 | Kartais (5–29%) | 1 ligoje |
| RPS19ribosomal protein S19 | Kartais (5–29%) | 1 ligoje |
| RPS20ribosomal protein S20 | Kartais (5–29%) | 1 ligoje |
| RPS24ribosomal protein S24 | Kartais (5–29%) | 1 ligoje |
| RPS26ribosomal protein S26 | Kartais (5–29%) | 1 ligoje |
| RPS27ribosomal protein S27 | Kartais (5–29%) | 1 ligoje |
| RPS28ribosomal protein S28 | Kartais (5–29%) | 1 ligoje |
| RPS29ribosomal protein S29 | Kartais (5–29%) | 1 ligoje |
| RPS7ribosomal protein S7 | Kartais (5–29%) | 1 ligoje |
| SMPD1sphingomyelin phosphodiesterase 1 | Kartais (5–29%) | 1 ligoje |
| SOX5SRY-box transcription factor 5 | Kartais (5–29%) | 1 ligoje |
| THRBthyroid hormone receptor beta | Kartais (5–29%) | 1 ligoje |
| TMEM185Atransmembrane protein 185A | Kartais (5–29%) | 1 ligoje |
| TSR2TSR2 ribosome maturation factor | Kartais (5–29%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Kartais (5–29%) | 1 ligoje |
| ZFP57ZFP57 zinc finger protein | Kartais (5–29%) | 1 ligoje |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Retai (1–4 %) | 1 ligoje |
| SMAD6SMAD family member 6 | 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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