Kenmerk
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.
Samenvatting
- Ook bekend als
- NDD
- Lichaamssysteem
- Abnormality of the nervous system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Neurodevelopmental delay voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ARID2AT-rich interaction domain 2 | Altijd | In 1 aandoening |
| DRG1developmentally regulated GTP binding protein 1 | Altijd | In 1 aandoening |
| IL6STinterleukin 6 cytokine family signal transducer | Altijd | In 1 aandoening |
| TRIM71tripartite motif containing 71 | Altijd | In 1 aandoening |
| ARL6ARF like GTPase 6 | Heel vaak (80–99%) | In 1 aandoening |
| ASXL1ASXL transcriptional regulator 1 | Heel vaak (80–99%) | In 1 aandoening |
| BBIP1BBSome interacting protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| BBS1Bardet-Biedl syndrome 1 | Heel vaak (80–99%) | In 1 aandoening |
| BBS10Bardet-Biedl syndrome 10 | Heel vaak (80–99%) | In 1 aandoening |
| BBS12Bardet-Biedl syndrome 12 | Heel vaak (80–99%) | In 1 aandoening |
| BBS2Bardet-Biedl syndrome 2 | Heel vaak (80–99%) | In 1 aandoening |
| BBS4Bardet-Biedl syndrome 4 | Heel vaak (80–99%) | In 1 aandoening |
| BBS5Bardet-Biedl syndrome 5 | Heel vaak (80–99%) | In 1 aandoening |
| BBS7Bardet-Biedl syndrome 7 | Heel vaak (80–99%) | In 1 aandoening |
| BBS9Bardet-Biedl syndrome 9 | Heel vaak (80–99%) | In 1 aandoening |
| CEP19centrosomal protein 19 | Heel vaak (80–99%) | In 1 aandoening |
| CEP290centrosomal protein 290 | Heel vaak (80–99%) | In 1 aandoening |
| CEP85Lcentrosomal protein 85L | Heel vaak (80–99%) | In 1 aandoening |
| CFAP418cilia and flagella associated protein 418 | Heel vaak (80–99%) | In 1 aandoening |
| CHD8chromodomain helicase DNA binding protein 8 | Heel vaak (80–99%) | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| DLDdihydrolipoamide dehydrogenase | Heel vaak (80–99%) | In 1 aandoening |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Heel vaak (80–99%) | In 1 aandoening |
| EP300EP300 lysine acetyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Heel vaak (80–99%) | In 2 aandoeningen |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Heel vaak (80–99%) | In 2 aandoeningen |
| FBXO22F-box protein 22 | Heel vaak (80–99%) | In 1 aandoening |
| HEXBhexosaminidase subunit beta | Heel vaak (80–99%) | In 1 aandoening |
| IFT172intraflagellar transport 172 | Heel vaak (80–99%) | In 1 aandoening |
| IFT27intraflagellar transport 27 | Heel vaak (80–99%) | In 1 aandoening |
| IFT74intraflagellar transport 74 | Heel vaak (80–99%) | In 1 aandoening |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Heel vaak (80–99%) | In 1 aandoening |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Heel vaak (80–99%) | In 1 aandoening |
| KDM6Alysine demethylase 6A | Heel vaak (80–99%) | In 1 aandoening |
| KMT2Dlysine methyltransferase 2D | Heel vaak (80–99%) | In 1 aandoening |
| LZTFL1leucine zipper transcription factor like 1 | Heel vaak (80–99%) | In 1 aandoening |
| MACF1microtubule actin crosslinking factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| MAGEL2MAGE family member L2 | Heel vaak (80–99%) | In 1 aandoening |
Toon nog 166 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| MIR17HGmiR-17-92a-1 cluster host gene | Heel vaak (80–99%) | In 1 aandoening |
| MKKSMKKS centrosomal shuttling protein | Heel vaak (80–99%) | In 1 aandoening |
| MKS1MKS transition zone complex subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| NALCNsodium leak channel, non-selective | Heel vaak (80–99%) | In 1 aandoening |
| NPHP1nephrocystin 1 | Heel vaak (80–99%) | In 1 aandoening |
| OCA2OCA2 melanosomal transmembrane protein | Heel vaak (80–99%) | In 1 aandoening |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Heel vaak (80–99%) | In 1 aandoening |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Heel vaak (80–99%) | In 1 aandoening |
| PLCB1phospholipase C beta 1 | Heel vaak (80–99%) | In 1 aandoening |
| SCAPERS-phase cyclin A associated protein in the ER | Heel vaak (80–99%) | In 1 aandoening |
| SCLT1sodium channel and clathrin linker 1 | Heel vaak (80–99%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Heel vaak (80–99%) | In 1 aandoening |
| SETBP1SET binding protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| SLC12A5solute carrier family 12 member 5 | Heel vaak (80–99%) | In 1 aandoening |
| SLC25A15solute carrier family 25 member 15 | Heel vaak (80–99%) | In 1 aandoening |
| SLC25A22solute carrier family 25 member 22 | Heel vaak (80–99%) | In 1 aandoening |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Heel vaak (80–99%) | In 1 aandoening |
| TBC1D24TBC1 domain family member 24 | Heel vaak (80–99%) | In 1 aandoening |
| TRIM32tripartite motif containing 32 | Heel vaak (80–99%) | In 1 aandoening |
| TTC8tetratricopeptide repeat domain 8 | Heel vaak (80–99%) | In 1 aandoening |
| UBE3Aubiquitin protein ligase E3A | Heel vaak (80–99%) | In 1 aandoening |
| WDPCPWD repeat containing planar cell polarity effector | Heel vaak (80–99%) | In 1 aandoening |
| AASSaminoadipate-semialdehyde synthase | Vaak (30–79%) | In 2 aandoeningen |
| ABCC8ATP binding cassette subfamily C member 8 | Vaak (30–79%) | In 2 aandoeningen |
| ACADSacyl-CoA dehydrogenase short chain | Vaak (30–79%) | In 1 aandoening |
| ADARadenosine deaminase RNA specific | Vaak (30–79%) | In 1 aandoening |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Vaak (30–79%) | In 1 aandoening |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Vaak (30–79%) | In 1 aandoening |
| ASLargininosuccinate lyase | Vaak (30–79%) | In 1 aandoening |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Vaak (30–79%) | In 1 aandoening |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Vaak (30–79%) | In 1 aandoening |
| ATP5F1AATP synthase F1 subunit alpha | Vaak (30–79%) | In 1 aandoening |
| ATP5F1DATP synthase F1 subunit delta | Vaak (30–79%) | In 1 aandoening |
| ATP5F1EATP synthase F1 subunit epsilon | Vaak (30–79%) | In 1 aandoening |
| ATP5MKATP synthase membrane subunit k | Vaak (30–79%) | In 1 aandoening |
| ATP5POATP synthase peripheral stalk subunit OSCP | Vaak (30–79%) | In 1 aandoening |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Vaak (30–79%) | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Vaak (30–79%) | In 2 aandoeningen |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Vaak (30–79%) | In 2 aandoeningen |
| CBLCbl proto-oncogene | Vaak (30–79%) | In 1 aandoening |
| CHD2chromodomain helicase DNA binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| CTCFCCCTC-binding factor | Vaak (30–79%) | In 1 aandoening |
| CUX2cut like homeobox 2 | Vaak (30–79%) | In 1 aandoening |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Vaak (30–79%) | In 1 aandoening |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Vaak (30–79%) | In 1 aandoening |
| DNM1dynamin 1 | Vaak (30–79%) | In 1 aandoening |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Vaak (30–79%) | In 1 aandoening |
| DUOX2dual oxidase 2 | Vaak (30–79%) | In 1 aandoening |
| DUOXA2dual oxidase maturation factor 2 | Vaak (30–79%) | In 1 aandoening |
| ETHE1ETHE1 persulfide dioxygenase | Vaak (30–79%) | In 1 aandoening |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Vaak (30–79%) | In 1 aandoening |
| GCKglucokinase | Vaak (30–79%) | In 1 aandoening |
| GNAQG protein subunit alpha q | Vaak (30–79%) | In 1 aandoening |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Vaak (30–79%) | In 1 aandoening |
| HESX1HESX homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| HPD4-hydroxyphenylpyruvate dioxygenase | Vaak (30–79%) | In 1 aandoening |
| IFNGinterferon gamma | Vaak (30–79%) | In 1 aandoening |
| INSinsulin | Vaak (30–79%) | In 1 aandoening |
| IYDiodotyrosine deiodinase | Vaak (30–79%) | In 1 aandoening |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Vaak (30–79%) | In 3 aandoeningen |
| KMT2Blysine methyltransferase 2B | Vaak (30–79%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Vaak (30–79%) | In 1 aandoening |
| LHX3LIM homeobox 3 | Vaak (30–79%) | In 1 aandoening |
| LHX4LIM homeobox 4 | Vaak (30–79%) | In 1 aandoening |
| LMBRD1LMBR1 domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| LZTR1leucine zipper like post translational regulator 1 | Vaak (30–79%) | In 1 aandoening |
| MAPK10mitogen-activated protein kinase 10 | Vaak (30–79%) | In 1 aandoening |
| MID1midline 1 | Vaak (30–79%) | In 1 aandoening |
| MRASmuscle RAS oncogene homolog | Vaak (30–79%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Vaak (30–79%) | In 2 aandoeningen |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Vaak (30–79%) | In 1 aandoening |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Vaak (30–79%) | In 1 aandoening |
| MYSM1Myb like, SWIRM and MPN domains 1 | Vaak (30–79%) | In 1 aandoening |
| NF1neurofibromin 1 | Vaak (30–79%) | In 1 aandoening |
| NRASNRAS proto-oncogene, GTPase | Vaak (30–79%) | In 2 aandoeningen |
| NUP54nucleoporin 54 | Vaak (30–79%) | In 1 aandoening |
| NUP62nucleoporin 62 | Vaak (30–79%) | In 1 aandoening |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Vaak (30–79%) | In 1 aandoening |
| PDHBpyruvate dehydrogenase E1 subunit beta | Vaak (30–79%) | In 1 aandoening |
| PDX1pancreatic and duodenal homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Vaak (30–79%) | In 1 aandoening |
| PLPBPpyridoxal phosphate binding protein | Vaak (30–79%) | In 1 aandoening |
| POU1F1POU class 1 homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| PROP1PROP paired-like homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Vaak (30–79%) | In 1 aandoening |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Vaak (30–79%) | In 2 aandoeningen |
| RASA2RAS p21 protein activator 2 | Vaak (30–79%) | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| RIT1Ras like without CAAX 1 | Vaak (30–79%) | In 1 aandoening |
| RRASRAS related | Vaak (30–79%) | In 1 aandoening |
| RRAS2RAS related 2 | Vaak (30–79%) | In 1 aandoening |
| SIM1SIM bHLH transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| SKIC3SKI3 subunit of superkiller complex | Vaak (30–79%) | In 1 aandoening |
| SLC1A3solute carrier family 1 member 3 | Vaak (30–79%) | In 1 aandoening |
| SLC2A1solute carrier family 2 member 1 | Vaak (30–79%) | In 1 aandoening |
| SLC5A5solute carrier family 5 member 5 | Vaak (30–79%) | In 1 aandoening |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Vaak (30–79%) | In 1 aandoening |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Vaak (30–79%) | In 1 aandoening |
| SPRED2sprouty related EVH1 domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| STAT3signal transducer and activator of transcription 3 | Vaak (30–79%) | In 1 aandoening |
| TGthyroglobulin | Vaak (30–79%) | In 1 aandoening |
| TINF2TERF1 interacting nuclear factor 2 | Vaak (30–79%) | In 1 aandoening |
| TPOthyroid peroxidase | Vaak (30–79%) | In 1 aandoening |
| TRHRthyrotropin releasing hormone receptor | Vaak (30–79%) | In 1 aandoening |
| TSC1TSC complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| TSC2TSC complex subunit 2 | Vaak (30–79%) | In 1 aandoening |
| TSHBthyroid stimulating hormone subunit beta | Vaak (30–79%) | In 1 aandoening |
| ZNF462zinc finger protein 462 | Vaak (30–79%) | In 1 aandoening |
| ADA2adenosine deaminase 2 | Soms (5–29%) | In 1 aandoening |
| ALKALK receptor tyrosine kinase | Soms (5–29%) | In 1 aandoening |
| CBScystathionine beta-synthase | Soms (5–29%) | In 1 aandoening |
| COQ8Acoenzyme Q8A | Soms (5–29%) | In 1 aandoening |
| DPYSdihydropyrimidinase | Soms (5–29%) | In 1 aandoening |
| FOCADfocadhesin | Soms (5–29%) | In 1 aandoening |
| FOXP2forkhead box P2 | Soms (5–29%) | In 1 aandoening |
| FTCDformimidoyltransferase cyclodeaminase | Soms (5–29%) | In 1 aandoening |
| GATA1GATA binding protein 1 | Soms (5–29%) | In 1 aandoening |
| GJB2gap junction protein beta 2 | Soms (5–29%) | In 1 aandoening |
| GJB6gap junction protein beta 6 | Soms (5–29%) | In 1 aandoening |
| HEATR3HEAT repeat containing 3 | Soms (5–29%) | In 1 aandoening |
| HRASHRas proto-oncogene, GTPase | Soms (5–29%) | In 1 aandoening |
| HYMAIhydatidiform mole associated and imprinted | Soms (5–29%) | In 1 aandoening |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Soms (5–29%) | In 1 aandoening |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Soms (5–29%) | In 1 aandoening |
| LEMD3LEM domain containing 3 | Soms (5–29%) | In 1 aandoening |
| MMACHCmetabolism of cobalamin associated C | Soms (5–29%) | In 1 aandoening |
| PAX2paired box 2 | Soms (5–29%) | In 1 aandoening |
| PBX1PBX homeobox 1 | Soms (5–29%) | In 1 aandoening |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Soms (5–29%) | In 1 aandoening |
| PCK1phosphoenolpyruvate carboxykinase 1 | Soms (5–29%) | In 1 aandoening |
| PCK2phosphoenolpyruvate carboxykinase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| PLAGL1PLAG1 like zinc finger 1 | Soms (5–29%) | In 1 aandoening |
| PLP1proteolipid protein 1 | Soms (5–29%) | In 1 aandoening |
| RPL11ribosomal protein L11 | Soms (5–29%) | In 1 aandoening |
| RPL15ribosomal protein L15 | Soms (5–29%) | In 1 aandoening |
| RPL18ribosomal protein L18 | Soms (5–29%) | In 1 aandoening |
| RPL26ribosomal protein L26 | Soms (5–29%) | In 1 aandoening |
| RPL27ribosomal protein L27 | Soms (5–29%) | In 1 aandoening |
| RPL31ribosomal protein L31 | Soms (5–29%) | In 1 aandoening |
| RPL35ribosomal protein L35 | Soms (5–29%) | In 1 aandoening |
| RPL35Aribosomal protein L35a | Soms (5–29%) | In 1 aandoening |
| RPL5ribosomal protein L5 | Soms (5–29%) | In 1 aandoening |
| RPL8ribosomal protein L8 | Soms (5–29%) | In 1 aandoening |
| RPL9ribosomal protein L9 | Soms (5–29%) | In 1 aandoening |
| RPS10ribosomal protein S10 | Soms (5–29%) | In 1 aandoening |
| RPS15Aribosomal protein S15a | Soms (5–29%) | In 1 aandoening |
| RPS17ribosomal protein S17 | Soms (5–29%) | In 1 aandoening |
| RPS19ribosomal protein S19 | Soms (5–29%) | In 1 aandoening |
| RPS20ribosomal protein S20 | Soms (5–29%) | In 1 aandoening |
| RPS24ribosomal protein S24 | Soms (5–29%) | In 1 aandoening |
| RPS26ribosomal protein S26 | Soms (5–29%) | In 1 aandoening |
| RPS27ribosomal protein S27 | Soms (5–29%) | In 1 aandoening |
| RPS28ribosomal protein S28 | Soms (5–29%) | In 1 aandoening |
| RPS29ribosomal protein S29 | Soms (5–29%) | In 1 aandoening |
| RPS7ribosomal protein S7 | Soms (5–29%) | In 1 aandoening |
| SMPD1sphingomyelin phosphodiesterase 1 | Soms (5–29%) | In 1 aandoening |
| SOX5SRY-box transcription factor 5 | Soms (5–29%) | In 1 aandoening |
| THRBthyroid hormone receptor beta | Soms (5–29%) | In 1 aandoening |
| TMEM185Atransmembrane protein 185A | Soms (5–29%) | In 1 aandoening |
| TSR2TSR2 ribosome maturation factor | Soms (5–29%) | In 1 aandoening |
| ZEB2zinc finger E-box binding homeobox 2 | Soms (5–29%) | In 1 aandoening |
| ZFP57ZFP57 zinc finger protein | Soms (5–29%) | In 1 aandoening |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Zelden (1–4%) | In 1 aandoening |
| SMAD6SMAD family member 6 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
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Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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