Træk
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.
Resumé
- Også kaldet
- NDD
- Kropssystem
- Abnormality of the nervous system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test206 gener knyttet til Neurodevelopmental delay
Ændringer i disse gener forårsager sjældne tilstande, hvor Neurodevelopmental delay ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ARID2AT-rich interaction domain 2 | Altid | I 1 tilstand |
| DRG1developmentally regulated GTP binding protein 1 | Altid | I 1 tilstand |
| IL6STinterleukin 6 cytokine family signal transducer | Altid | I 1 tilstand |
| TRIM71tripartite motif containing 71 | Altid | I 1 tilstand |
| ARL6ARF like GTPase 6 | Meget ofte (80–99 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Meget ofte (80–99 %) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Meget ofte (80–99 %) | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Meget ofte (80–99 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Meget ofte (80–99 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Meget ofte (80–99 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Meget ofte (80–99 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Meget ofte (80–99 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Meget ofte (80–99 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Meget ofte (80–99 %) | I 1 tilstand |
| CEP19centrosomal protein 19 | Meget ofte (80–99 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Meget ofte (80–99 %) | I 1 tilstand |
| CEP85Lcentrosomal protein 85L | Meget ofte (80–99 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Meget ofte (80–99 %) | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Meget ofte (80–99 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| DLDdihydrolipoamide dehydrogenase | Meget ofte (80–99 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Meget ofte (80–99 %) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Meget ofte (80–99 %) | I 2 tilstande |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Meget ofte (80–99 %) | I 2 tilstande |
| FBXO22F-box protein 22 | Meget ofte (80–99 %) | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Meget ofte (80–99 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Meget ofte (80–99 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Meget ofte (80–99 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Meget ofte (80–99 %) | I 1 tilstand |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Meget ofte (80–99 %) | I 1 tilstand |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Meget ofte (80–99 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Meget ofte (80–99 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MACF1microtubule actin crosslinking factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Meget ofte (80–99 %) | I 1 tilstand |
Vis 166 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| MIR17HGmiR-17-92a-1 cluster host gene | Meget ofte (80–99 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Meget ofte (80–99 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Meget ofte (80–99 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Meget ofte (80–99 %) | I 1 tilstand |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Meget ofte (80–99 %) | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Meget ofte (80–99 %) | I 1 tilstand |
| PLCB1phospholipase C beta 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Meget ofte (80–99 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Meget ofte (80–99 %) | I 2 tilstande |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Meget ofte (80–99 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC12A5solute carrier family 12 member 5 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC25A15solute carrier family 25 member 15 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Meget ofte (80–99 %) | I 1 tilstand |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Meget ofte (80–99 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Meget ofte (80–99 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Meget ofte (80–99 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Meget ofte (80–99 %) | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Meget ofte (80–99 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Meget ofte (80–99 %) | I 1 tilstand |
| AASSaminoadipate-semialdehyde synthase | Ofte (30–79 %) | I 2 tilstande |
| ABCC8ATP binding cassette subfamily C member 8 | Ofte (30–79 %) | I 2 tilstande |
| ACADSacyl-CoA dehydrogenase short chain | Ofte (30–79 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Ofte (30–79 %) | I 1 tilstand |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Ofte (30–79 %) | I 1 tilstand |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ASLargininosuccinate lyase | Ofte (30–79 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1AATP synthase F1 subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1DATP synthase F1 subunit delta | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1EATP synthase F1 subunit epsilon | Ofte (30–79 %) | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Ofte (30–79 %) | I 1 tilstand |
| ATP5POATP synthase peripheral stalk subunit OSCP | Ofte (30–79 %) | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Ofte (30–79 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 2 tilstande |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ofte (30–79 %) | I 2 tilstande |
| CBLCbl proto-oncogene | Ofte (30–79 %) | I 1 tilstand |
| CHD2chromodomain helicase DNA binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Ofte (30–79 %) | I 1 tilstand |
| CUX2cut like homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Ofte (30–79 %) | I 1 tilstand |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Ofte (30–79 %) | I 1 tilstand |
| DNM1dynamin 1 | Ofte (30–79 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| DUOX2dual oxidase 2 | Ofte (30–79 %) | I 1 tilstand |
| DUOXA2dual oxidase maturation factor 2 | Ofte (30–79 %) | I 1 tilstand |
| ETHE1ETHE1 persulfide dioxygenase | Ofte (30–79 %) | I 1 tilstand |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Ofte (30–79 %) | I 1 tilstand |
| GCKglucokinase | Ofte (30–79 %) | I 1 tilstand |
| GNAQG protein subunit alpha q | Ofte (30–79 %) | I 1 tilstand |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Ofte (30–79 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| HPD4-hydroxyphenylpyruvate dioxygenase | Ofte (30–79 %) | I 1 tilstand |
| IFNGinterferon gamma | Ofte (30–79 %) | I 1 tilstand |
| INSinsulin | Ofte (30–79 %) | I 1 tilstand |
| IYDiodotyrosine deiodinase | Ofte (30–79 %) | I 1 tilstand |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Ofte (30–79 %) | I 3 tilstande |
| KMT2Blysine methyltransferase 2B | Ofte (30–79 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 1 tilstand |
| LHX3LIM homeobox 3 | Ofte (30–79 %) | I 1 tilstand |
| LHX4LIM homeobox 4 | Ofte (30–79 %) | I 1 tilstand |
| LMBRD1LMBR1 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| MAPK10mitogen-activated protein kinase 10 | Ofte (30–79 %) | I 1 tilstand |
| MID1midline 1 | Ofte (30–79 %) | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 2 tilstande |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ofte (30–79 %) | I 1 tilstand |
| MYSM1Myb like, SWIRM and MPN domains 1 | Ofte (30–79 %) | I 1 tilstand |
| NF1neurofibromin 1 | Ofte (30–79 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Ofte (30–79 %) | I 2 tilstande |
| NUP54nucleoporin 54 | Ofte (30–79 %) | I 1 tilstand |
| NUP62nucleoporin 62 | Ofte (30–79 %) | I 1 tilstand |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| PDHBpyruvate dehydrogenase E1 subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PDX1pancreatic and duodenal homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Ofte (30–79 %) | I 1 tilstand |
| PLPBPpyridoxal phosphate binding protein | Ofte (30–79 %) | I 1 tilstand |
| POU1F1POU class 1 homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| PROP1PROP paired-like homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Ofte (30–79 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 2 tilstande |
| RASA2RAS p21 protein activator 2 | Ofte (30–79 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Ofte (30–79 %) | I 1 tilstand |
| RRASRAS related | Ofte (30–79 %) | I 1 tilstand |
| RRAS2RAS related 2 | Ofte (30–79 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Ofte (30–79 %) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC5A5solute carrier family 5 member 5 | Ofte (30–79 %) | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Ofte (30–79 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Ofte (30–79 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| STAT3signal transducer and activator of transcription 3 | Ofte (30–79 %) | I 1 tilstand |
| TGthyroglobulin | Ofte (30–79 %) | I 1 tilstand |
| TINF2TERF1 interacting nuclear factor 2 | Ofte (30–79 %) | I 1 tilstand |
| TPOthyroid peroxidase | Ofte (30–79 %) | I 1 tilstand |
| TRHRthyrotropin releasing hormone receptor | Ofte (30–79 %) | I 1 tilstand |
| TSC1TSC complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| TSC2TSC complex subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| TSHBthyroid stimulating hormone subunit beta | Ofte (30–79 %) | I 1 tilstand |
| ZNF462zinc finger protein 462 | Ofte (30–79 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ALKALK receptor tyrosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| CBScystathionine beta-synthase | Nogle gange (5–29 %) | I 1 tilstand |
| COQ8Acoenzyme Q8A | Nogle gange (5–29 %) | I 1 tilstand |
| DPYSdihydropyrimidinase | Nogle gange (5–29 %) | I 1 tilstand |
| FOCADfocadhesin | Nogle gange (5–29 %) | I 1 tilstand |
| FOXP2forkhead box P2 | Nogle gange (5–29 %) | I 1 tilstand |
| FTCDformimidoyltransferase cyclodeaminase | Nogle gange (5–29 %) | I 1 tilstand |
| GATA1GATA binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GJB2gap junction protein beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GJB6gap junction protein beta 6 | Nogle gange (5–29 %) | I 1 tilstand |
| HEATR3HEAT repeat containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| HYMAIhydatidiform mole associated and imprinted | Nogle gange (5–29 %) | I 1 tilstand |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| LEMD3LEM domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Nogle gange (5–29 %) | I 1 tilstand |
| PAX2paired box 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PBX1PBX homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PCK1phosphoenolpyruvate carboxykinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PCK2phosphoenolpyruvate carboxykinase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| PLAGL1PLAG1 like zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL11ribosomal protein L11 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL15ribosomal protein L15 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL18ribosomal protein L18 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL26ribosomal protein L26 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL27ribosomal protein L27 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL31ribosomal protein L31 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL35ribosomal protein L35 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL35Aribosomal protein L35a | Nogle gange (5–29 %) | I 1 tilstand |
| RPL5ribosomal protein L5 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL8ribosomal protein L8 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL9ribosomal protein L9 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS10ribosomal protein S10 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS15Aribosomal protein S15a | Nogle gange (5–29 %) | I 1 tilstand |
| RPS17ribosomal protein S17 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS19ribosomal protein S19 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS20ribosomal protein S20 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS24ribosomal protein S24 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS26ribosomal protein S26 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS27ribosomal protein S27 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS28ribosomal protein S28 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS29ribosomal protein S29 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS7ribosomal protein S7 | Nogle gange (5–29 %) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX5SRY-box transcription factor 5 | Nogle gange (5–29 %) | I 1 tilstand |
| THRBthyroid hormone receptor beta | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM185Atransmembrane protein 185A | Nogle gange (5–29 %) | I 1 tilstand |
| TSR2TSR2 ribosome maturation factor | Nogle gange (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZFP57ZFP57 zinc finger protein | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| SMAD6SMAD family member 6 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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