Trait
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.
Summary
- Also called
- NDD
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Neurodevelopmental delay, and the rest of your genome, with one test.
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Get my Genome Test206 genes linked to Neurodevelopmental delay
Changes in these genes cause rare conditions in which Neurodevelopmental delay is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ARID2AT-rich interaction domain 2 | Always | In 1 condition |
| DRG1developmentally regulated GTP binding protein 1 | Always | In 1 condition |
| IL6STinterleukin 6 cytokine family signal transducer | Always | In 1 condition |
| TRIM71tripartite motif containing 71 | Always | In 1 condition |
| ARL6ARF like GTPase 6 | Very often (80–99%) | In 1 condition |
| ASXL1ASXL transcriptional regulator 1 | Very often (80–99%) | In 1 condition |
| BBIP1BBSome interacting protein 1 | Very often (80–99%) | In 1 condition |
| BBS1Bardet-Biedl syndrome 1 | Very often (80–99%) | In 1 condition |
| BBS10Bardet-Biedl syndrome 10 | Very often (80–99%) | In 1 condition |
| BBS12Bardet-Biedl syndrome 12 | Very often (80–99%) | In 1 condition |
| BBS2Bardet-Biedl syndrome 2 | Very often (80–99%) | In 1 condition |
| BBS4Bardet-Biedl syndrome 4 | Very often (80–99%) | In 1 condition |
| BBS5Bardet-Biedl syndrome 5 | Very often (80–99%) | In 1 condition |
| BBS7Bardet-Biedl syndrome 7 | Very often (80–99%) | In 1 condition |
| BBS9Bardet-Biedl syndrome 9 | Very often (80–99%) | In 1 condition |
| CEP19centrosomal protein 19 | Very often (80–99%) | In 1 condition |
| CEP290centrosomal protein 290 | Very often (80–99%) | In 1 condition |
| CEP85Lcentrosomal protein 85L | Very often (80–99%) | In 1 condition |
| CFAP418cilia and flagella associated protein 418 | Very often (80–99%) | In 1 condition |
| CHD8chromodomain helicase DNA binding protein 8 | Very often (80–99%) | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Very often (80–99%) | In 1 condition |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Very often (80–99%) | In 1 condition |
| DLDdihydrolipoamide dehydrogenase | Very often (80–99%) | In 1 condition |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Very often (80–99%) | In 1 condition |
| EP300EP300 lysine acetyltransferase | Very often (80–99%) | In 1 condition |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Very often (80–99%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Very often (80–99%) | In 2 conditions |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Very often (80–99%) | In 2 conditions |
| FBXO22F-box protein 22 | Very often (80–99%) | In 1 condition |
| HEXBhexosaminidase subunit beta | Very often (80–99%) | In 1 condition |
| IFT172intraflagellar transport 172 | Very often (80–99%) | In 1 condition |
| IFT27intraflagellar transport 27 | Very often (80–99%) | In 1 condition |
| IFT74intraflagellar transport 74 | Very often (80–99%) | In 1 condition |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Very often (80–99%) | In 1 condition |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Very often (80–99%) | In 1 condition |
| KDM6Alysine demethylase 6A | Very often (80–99%) | In 1 condition |
| KMT2Dlysine methyltransferase 2D | Very often (80–99%) | In 1 condition |
| LZTFL1leucine zipper transcription factor like 1 | Very often (80–99%) | In 1 condition |
| MACF1microtubule actin crosslinking factor 1 | Very often (80–99%) | In 1 condition |
| MAGEL2MAGE family member L2 | Very often (80–99%) | In 1 condition |
Show 166 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| MIR17HGmiR-17-92a-1 cluster host gene | Very often (80–99%) | In 1 condition |
| MKKSMKKS centrosomal shuttling protein | Very often (80–99%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Very often (80–99%) | In 1 condition |
| NALCNsodium leak channel, non-selective | Very often (80–99%) | In 1 condition |
| NPHP1nephrocystin 1 | Very often (80–99%) | In 1 condition |
| OCA2OCA2 melanosomal transmembrane protein | Very often (80–99%) | In 1 condition |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Very often (80–99%) | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Very often (80–99%) | In 1 condition |
| PLCB1phospholipase C beta 1 | Very often (80–99%) | In 1 condition |
| SCAPERS-phase cyclin A associated protein in the ER | Very often (80–99%) | In 1 condition |
| SCLT1sodium channel and clathrin linker 1 | Very often (80–99%) | In 1 condition |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Very often (80–99%) | In 2 conditions |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Very often (80–99%) | In 2 conditions |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Very often (80–99%) | In 1 condition |
| SETBP1SET binding protein 1 | Very often (80–99%) | In 1 condition |
| SLC12A5solute carrier family 12 member 5 | Very often (80–99%) | In 1 condition |
| SLC25A15solute carrier family 25 member 15 | Very often (80–99%) | In 1 condition |
| SLC25A22solute carrier family 25 member 22 | Very often (80–99%) | In 1 condition |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Very often (80–99%) | In 1 condition |
| TBC1D24TBC1 domain family member 24 | Very often (80–99%) | In 1 condition |
| TRIM32tripartite motif containing 32 | Very often (80–99%) | In 1 condition |
| TTC8tetratricopeptide repeat domain 8 | Very often (80–99%) | In 1 condition |
| UBE3Aubiquitin protein ligase E3A | Very often (80–99%) | In 1 condition |
| WDPCPWD repeat containing planar cell polarity effector | Very often (80–99%) | In 1 condition |
| AASSaminoadipate-semialdehyde synthase | Often (30–79%) | In 2 conditions |
| ABCC8ATP binding cassette subfamily C member 8 | Often (30–79%) | In 2 conditions |
| ACADSacyl-CoA dehydrogenase short chain | Often (30–79%) | In 1 condition |
| ADARadenosine deaminase RNA specific | Often (30–79%) | In 1 condition |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Often (30–79%) | In 1 condition |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Often (30–79%) | In 1 condition |
| ASLargininosuccinate lyase | Often (30–79%) | In 1 condition |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Often (30–79%) | In 1 condition |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Often (30–79%) | In 1 condition |
| ATP5F1AATP synthase F1 subunit alpha | Often (30–79%) | In 1 condition |
| ATP5F1DATP synthase F1 subunit delta | Often (30–79%) | In 1 condition |
| ATP5F1EATP synthase F1 subunit epsilon | Often (30–79%) | In 1 condition |
| ATP5MKATP synthase membrane subunit k | Often (30–79%) | In 1 condition |
| ATP5POATP synthase peripheral stalk subunit OSCP | Often (30–79%) | In 1 condition |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Often (30–79%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Often (30–79%) | In 2 conditions |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Often (30–79%) | In 2 conditions |
| CBLCbl proto-oncogene | Often (30–79%) | In 1 condition |
| CHD2chromodomain helicase DNA binding protein 2 | Often (30–79%) | In 1 condition |
| CTCFCCCTC-binding factor | Often (30–79%) | In 1 condition |
| CUX2cut like homeobox 2 | Often (30–79%) | In 1 condition |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Often (30–79%) | In 1 condition |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Often (30–79%) | In 1 condition |
| DNM1dynamin 1 | Often (30–79%) | In 1 condition |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Often (30–79%) | In 1 condition |
| DUOX2dual oxidase 2 | Often (30–79%) | In 1 condition |
| DUOXA2dual oxidase maturation factor 2 | Often (30–79%) | In 1 condition |
| ETHE1ETHE1 persulfide dioxygenase | Often (30–79%) | In 1 condition |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Often (30–79%) | In 1 condition |
| GCKglucokinase | Often (30–79%) | In 1 condition |
| GNAQG protein subunit alpha q | Often (30–79%) | In 1 condition |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Often (30–79%) | In 1 condition |
| HESX1HESX homeobox 1 | Often (30–79%) | In 1 condition |
| HPD4-hydroxyphenylpyruvate dioxygenase | Often (30–79%) | In 1 condition |
| IFNGinterferon gamma | Often (30–79%) | In 1 condition |
| INSinsulin | Often (30–79%) | In 1 condition |
| IYDiodotyrosine deiodinase | Often (30–79%) | In 1 condition |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Often (30–79%) | In 3 conditions |
| KMT2Blysine methyltransferase 2B | Often (30–79%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Often (30–79%) | In 1 condition |
| LHX3LIM homeobox 3 | Often (30–79%) | In 1 condition |
| LHX4LIM homeobox 4 | Often (30–79%) | In 1 condition |
| LMBRD1LMBR1 domain containing 1 | Often (30–79%) | In 1 condition |
| LZTR1leucine zipper like post translational regulator 1 | Often (30–79%) | In 1 condition |
| MAPK10mitogen-activated protein kinase 10 | Often (30–79%) | In 1 condition |
| MID1midline 1 | Often (30–79%) | In 1 condition |
| MRASmuscle RAS oncogene homolog | Often (30–79%) | In 1 condition |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Often (30–79%) | In 2 conditions |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Often (30–79%) | In 1 condition |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Often (30–79%) | In 1 condition |
| MYSM1Myb like, SWIRM and MPN domains 1 | Often (30–79%) | In 1 condition |
| NF1neurofibromin 1 | Often (30–79%) | In 1 condition |
| NRASNRAS proto-oncogene, GTPase | Often (30–79%) | In 2 conditions |
| NUP54nucleoporin 54 | Often (30–79%) | In 1 condition |
| NUP62nucleoporin 62 | Often (30–79%) | In 1 condition |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Often (30–79%) | In 1 condition |
| PDHBpyruvate dehydrogenase E1 subunit beta | Often (30–79%) | In 1 condition |
| PDX1pancreatic and duodenal homeobox 1 | Often (30–79%) | In 1 condition |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Often (30–79%) | In 1 condition |
| PLPBPpyridoxal phosphate binding protein | Often (30–79%) | In 1 condition |
| POU1F1POU class 1 homeobox 1 | Often (30–79%) | In 1 condition |
| PROP1PROP paired-like homeobox 1 | Often (30–79%) | In 1 condition |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Often (30–79%) | In 1 condition |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Often (30–79%) | In 2 conditions |
| RASA2RAS p21 protein activator 2 | Often (30–79%) | In 1 condition |
| RHOBTB2Rho related BTB domain containing 2 | Often (30–79%) | In 1 condition |
| RIT1Ras like without CAAX 1 | Often (30–79%) | In 1 condition |
| RRASRAS related | Often (30–79%) | In 1 condition |
| RRAS2RAS related 2 | Often (30–79%) | In 1 condition |
| SIM1SIM bHLH transcription factor 1 | Often (30–79%) | In 1 condition |
| SKIC3SKI3 subunit of superkiller complex | Often (30–79%) | In 1 condition |
| SLC1A3solute carrier family 1 member 3 | Often (30–79%) | In 1 condition |
| SLC2A1solute carrier family 2 member 1 | Often (30–79%) | In 1 condition |
| SLC5A5solute carrier family 5 member 5 | Often (30–79%) | In 1 condition |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Often (30–79%) | In 1 condition |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Often (30–79%) | In 1 condition |
| SPRED2sprouty related EVH1 domain containing 2 | Often (30–79%) | In 1 condition |
| STAT3signal transducer and activator of transcription 3 | Often (30–79%) | In 1 condition |
| TGthyroglobulin | Often (30–79%) | In 1 condition |
| TINF2TERF1 interacting nuclear factor 2 | Often (30–79%) | In 1 condition |
| TPOthyroid peroxidase | Often (30–79%) | In 1 condition |
| TRHRthyrotropin releasing hormone receptor | Often (30–79%) | In 1 condition |
| TSC1TSC complex subunit 1 | Often (30–79%) | In 1 condition |
| TSC2TSC complex subunit 2 | Often (30–79%) | In 1 condition |
| TSHBthyroid stimulating hormone subunit beta | Often (30–79%) | In 1 condition |
| ZNF462zinc finger protein 462 | Often (30–79%) | In 1 condition |
| ADA2adenosine deaminase 2 | Sometimes (5–29%) | In 1 condition |
| ALKALK receptor tyrosine kinase | Sometimes (5–29%) | In 1 condition |
| CBScystathionine beta-synthase | Sometimes (5–29%) | In 1 condition |
| COQ8Acoenzyme Q8A | Sometimes (5–29%) | In 1 condition |
| DPYSdihydropyrimidinase | Sometimes (5–29%) | In 1 condition |
| FOCADfocadhesin | Sometimes (5–29%) | In 1 condition |
| FOXP2forkhead box P2 | Sometimes (5–29%) | In 1 condition |
| FTCDformimidoyltransferase cyclodeaminase | Sometimes (5–29%) | In 1 condition |
| GATA1GATA binding protein 1 | Sometimes (5–29%) | In 1 condition |
| GJB2gap junction protein beta 2 | Sometimes (5–29%) | In 1 condition |
| GJB6gap junction protein beta 6 | Sometimes (5–29%) | In 1 condition |
| HEATR3HEAT repeat containing 3 | Sometimes (5–29%) | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Sometimes (5–29%) | In 1 condition |
| HYMAIhydatidiform mole associated and imprinted | Sometimes (5–29%) | In 1 condition |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Sometimes (5–29%) | In 1 condition |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Sometimes (5–29%) | In 1 condition |
| LEMD3LEM domain containing 3 | Sometimes (5–29%) | In 1 condition |
| MMACHCmetabolism of cobalamin associated C | Sometimes (5–29%) | In 1 condition |
| PAX2paired box 2 | Sometimes (5–29%) | In 1 condition |
| PBX1PBX homeobox 1 | Sometimes (5–29%) | In 1 condition |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Sometimes (5–29%) | In 1 condition |
| PCK1phosphoenolpyruvate carboxykinase 1 | Sometimes (5–29%) | In 1 condition |
| PCK2phosphoenolpyruvate carboxykinase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| PLAGL1PLAG1 like zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| PLP1proteolipid protein 1 | Sometimes (5–29%) | In 1 condition |
| RPL11ribosomal protein L11 | Sometimes (5–29%) | In 1 condition |
| RPL15ribosomal protein L15 | Sometimes (5–29%) | In 1 condition |
| RPL18ribosomal protein L18 | Sometimes (5–29%) | In 1 condition |
| RPL26ribosomal protein L26 | Sometimes (5–29%) | In 1 condition |
| RPL27ribosomal protein L27 | Sometimes (5–29%) | In 1 condition |
| RPL31ribosomal protein L31 | Sometimes (5–29%) | In 1 condition |
| RPL35ribosomal protein L35 | Sometimes (5–29%) | In 1 condition |
| RPL35Aribosomal protein L35a | Sometimes (5–29%) | In 1 condition |
| RPL5ribosomal protein L5 | Sometimes (5–29%) | In 1 condition |
| RPL8ribosomal protein L8 | Sometimes (5–29%) | In 1 condition |
| RPL9ribosomal protein L9 | Sometimes (5–29%) | In 1 condition |
| RPS10ribosomal protein S10 | Sometimes (5–29%) | In 1 condition |
| RPS15Aribosomal protein S15a | Sometimes (5–29%) | In 1 condition |
| RPS17ribosomal protein S17 | Sometimes (5–29%) | In 1 condition |
| RPS19ribosomal protein S19 | Sometimes (5–29%) | In 1 condition |
| RPS20ribosomal protein S20 | Sometimes (5–29%) | In 1 condition |
| RPS24ribosomal protein S24 | Sometimes (5–29%) | In 1 condition |
| RPS26ribosomal protein S26 | Sometimes (5–29%) | In 1 condition |
| RPS27ribosomal protein S27 | Sometimes (5–29%) | In 1 condition |
| RPS28ribosomal protein S28 | Sometimes (5–29%) | In 1 condition |
| RPS29ribosomal protein S29 | Sometimes (5–29%) | In 1 condition |
| RPS7ribosomal protein S7 | Sometimes (5–29%) | In 1 condition |
| SMPD1sphingomyelin phosphodiesterase 1 | Sometimes (5–29%) | In 1 condition |
| SOX5SRY-box transcription factor 5 | Sometimes (5–29%) | In 1 condition |
| THRBthyroid hormone receptor beta | Sometimes (5–29%) | In 1 condition |
| TMEM185Atransmembrane protein 185A | Sometimes (5–29%) | In 1 condition |
| TSR2TSR2 ribosome maturation factor | Sometimes (5–29%) | In 1 condition |
| ZEB2zinc finger E-box binding homeobox 2 | Sometimes (5–29%) | In 1 condition |
| ZFP57ZFP57 zinc finger protein | Sometimes (5–29%) | In 1 condition |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Rarely (1–4%) | In 1 condition |
| SMAD6SMAD family member 6 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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