Egenskap
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.
Sammendrag
- Også kalt
- NDD
- Kroppssystem
- Abnormality of the nervous system
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Få mitt Genome Test206 gener knyttet til Neurodevelopmental delay
Endringer i disse genene forårsaker sjeldne tilstander der Neurodevelopmental delay forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ARID2AT-rich interaction domain 2 | Alltid | I 1 tilstand |
| DRG1developmentally regulated GTP binding protein 1 | Alltid | I 1 tilstand |
| IL6STinterleukin 6 cytokine family signal transducer | Alltid | I 1 tilstand |
| TRIM71tripartite motif containing 71 | Alltid | I 1 tilstand |
| ARL6ARF like GTPase 6 | Svært ofte (80–99 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Svært ofte (80–99 %) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Svært ofte (80–99 %) | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Svært ofte (80–99 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Svært ofte (80–99 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Svært ofte (80–99 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Svært ofte (80–99 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Svært ofte (80–99 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Svært ofte (80–99 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Svært ofte (80–99 %) | I 1 tilstand |
| CEP19centrosomal protein 19 | Svært ofte (80–99 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Svært ofte (80–99 %) | I 1 tilstand |
| CEP85Lcentrosomal protein 85L | Svært ofte (80–99 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Svært ofte (80–99 %) | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Svært ofte (80–99 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Svært ofte (80–99 %) | I 1 tilstand |
| DLDdihydrolipoamide dehydrogenase | Svært ofte (80–99 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Svært ofte (80–99 %) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Svært ofte (80–99 %) | I 2 tilstander |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Svært ofte (80–99 %) | I 2 tilstander |
| FBXO22F-box protein 22 | Svært ofte (80–99 %) | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Svært ofte (80–99 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Svært ofte (80–99 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Svært ofte (80–99 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Svært ofte (80–99 %) | I 1 tilstand |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Svært ofte (80–99 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Svært ofte (80–99 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MACF1microtubule actin crosslinking factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Svært ofte (80–99 %) | I 1 tilstand |
Vis 166 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| MIR17HGmiR-17-92a-1 cluster host gene | Svært ofte (80–99 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Svært ofte (80–99 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Svært ofte (80–99 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Svært ofte (80–99 %) | I 1 tilstand |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Svært ofte (80–99 %) | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Svært ofte (80–99 %) | I 1 tilstand |
| PLCB1phospholipase C beta 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Svært ofte (80–99 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Svært ofte (80–99 %) | I 2 tilstander |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Svært ofte (80–99 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC12A5solute carrier family 12 member 5 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC25A15solute carrier family 25 member 15 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Svært ofte (80–99 %) | I 1 tilstand |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Svært ofte (80–99 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Svært ofte (80–99 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Svært ofte (80–99 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Svært ofte (80–99 %) | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Svært ofte (80–99 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Svært ofte (80–99 %) | I 1 tilstand |
| AASSaminoadipate-semialdehyde synthase | Ofte (30–79 %) | I 2 tilstander |
| ABCC8ATP binding cassette subfamily C member 8 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 | Noen ganger (5–29 %) | I 1 tilstand |
| ALKALK receptor tyrosine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| CBScystathionine beta-synthase | Noen ganger (5–29 %) | I 1 tilstand |
| COQ8Acoenzyme Q8A | Noen ganger (5–29 %) | I 1 tilstand |
| DPYSdihydropyrimidinase | Noen ganger (5–29 %) | I 1 tilstand |
| FOCADfocadhesin | Noen ganger (5–29 %) | I 1 tilstand |
| FOXP2forkhead box P2 | Noen ganger (5–29 %) | I 1 tilstand |
| FTCDformimidoyltransferase cyclodeaminase | Noen ganger (5–29 %) | I 1 tilstand |
| GATA1GATA binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GJB2gap junction protein beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GJB6gap junction protein beta 6 | Noen ganger (5–29 %) | I 1 tilstand |
| HEATR3HEAT repeat containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| HYMAIhydatidiform mole associated and imprinted | Noen ganger (5–29 %) | I 1 tilstand |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| LEMD3LEM domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Noen ganger (5–29 %) | I 1 tilstand |
| PAX2paired box 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PBX1PBX homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PCK1phosphoenolpyruvate carboxykinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PCK2phosphoenolpyruvate carboxykinase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| PLAGL1PLAG1 like zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL11ribosomal protein L11 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL15ribosomal protein L15 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL18ribosomal protein L18 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL26ribosomal protein L26 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL27ribosomal protein L27 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL31ribosomal protein L31 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL35ribosomal protein L35 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL35Aribosomal protein L35a | Noen ganger (5–29 %) | I 1 tilstand |
| RPL5ribosomal protein L5 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL8ribosomal protein L8 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL9ribosomal protein L9 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS10ribosomal protein S10 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS15Aribosomal protein S15a | Noen ganger (5–29 %) | I 1 tilstand |
| RPS17ribosomal protein S17 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS19ribosomal protein S19 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS20ribosomal protein S20 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS24ribosomal protein S24 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS26ribosomal protein S26 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS27ribosomal protein S27 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS28ribosomal protein S28 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS29ribosomal protein S29 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS7ribosomal protein S7 | Noen ganger (5–29 %) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX5SRY-box transcription factor 5 | Noen ganger (5–29 %) | I 1 tilstand |
| THRBthyroid hormone receptor beta | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM185Atransmembrane protein 185A | Noen ganger (5–29 %) | I 1 tilstand |
| TSR2TSR2 ribosome maturation factor | Noen ganger (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZFP57ZFP57 zinc finger protein | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| SMAD6SMAD family member 6 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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- Datautgave 2026.10.16-c6eea6bf.
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