Trait
Profound global developmental delay
A profound delay in the achievement of motor or mental milestones in the domains of development of a child.
Summary
- Also called
- Global developmental delay, profound
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
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Get my Genome Test83 genes linked to Profound global developmental delay
Changes in these genes cause rare conditions in which Profound global developmental 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 |
|---|---|---|
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Always | In 1 condition |
| ARV1ARV1 fatty acid homeostasis modulator | Always | In 1 condition |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Always | In 1 condition |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Always | In 1 condition |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Always | In 1 condition |
| COL4A2collagen type IV alpha 2 chain | Always | In 1 condition |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Always | In 1 condition |
| DNM1Ldynamin 1L | Always | In 1 condition |
| ELOVL4ELOVL fatty acid elongase 4 | Always | In 1 condition |
| EML1EMAP like 1 | Always | In 1 condition |
| EPG5ectopic P-granules 5 autophagy tethering factor | Always | In 1 condition |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Always | In 1 condition |
| FLVCR1FLVCR choline and heme transporter 1 | Always | In 1 condition |
| GLULglutamate-ammonia ligase | Always | In 1 condition |
| GOSR2golgi SNAP receptor complex member 2 | Always | In 1 condition |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Always | In 2 conditions |
| GUF1GTP binding elongation factor GUF1 | Always | In 1 condition |
| IREB2iron responsive element binding protein 2 | Always | In 1 condition |
| JKAMPJNK1/MAPK8 associated membrane protein | Always | In 1 condition |
| KCNT2potassium sodium-activated channel subfamily T member 2 | Always | In 1 condition |
| LIPT2lipoyl(octanoyl) transferase 2 | Always | In 1 condition |
| NECAP1NECAP endocytosis associated 1 | Always | In 1 condition |
| NEUROG1neurogenin 1 | Always | In 1 condition |
| OPA1OPA1 mitochondrial dynamin like GTPase | Always | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 1 condition |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Always | In 1 condition |
| PRUNE1prune exopolyphosphatase 1 | Always | In 1 condition |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Always | In 1 condition |
| QARS1glutaminyl-tRNA synthetase 1 | Always | In 1 condition |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| SLC12A2solute carrier family 12 member 2 | Always | In 1 condition |
| SLC9A6solute carrier family 9 member A6 | Always | In 1 condition |
| SZT2SZT2 subunit of KICSTOR complex | Always | In 1 condition |
| TBCKTBC1 domain containing kinase | Always | In 1 condition |
| TMEM63Btransmembrane protein 63B | Always | In 1 condition |
| TRA2Btransformer 2 beta homolog | Always | In 1 condition |
| UNC80unc-80 subunit of NALCN channel complex | Always | In 1 condition |
| WASHC4WASH complex subunit 4 | Always | In 1 condition |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Always | In 1 condition |
Show 43 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| ZNF526zinc finger protein 526 | Always | In 1 condition |
| ATRXATRX chromatin remodeler | Very often (80–99%) | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Very often (80–99%) | In 1 condition |
| PEX10peroxisomal biogenesis factor 10 | Very often (80–99%) | In 1 condition |
| PEX11Bperoxisomal biogenesis factor 11 beta | Very often (80–99%) | In 1 condition |
| PEX12peroxisomal biogenesis factor 12 | Very often (80–99%) | In 1 condition |
| PEX13peroxisomal biogenesis factor 13 | Very often (80–99%) | In 1 condition |
| PEX14peroxisomal biogenesis factor 14 | Very often (80–99%) | In 1 condition |
| PEX16peroxisomal biogenesis factor 16 | Very often (80–99%) | In 1 condition |
| PEX19peroxisomal biogenesis factor 19 | Very often (80–99%) | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Very often (80–99%) | In 1 condition |
| PEX26peroxisomal biogenesis factor 26 | Very often (80–99%) | In 1 condition |
| PEX3peroxisomal biogenesis factor 3 | Very often (80–99%) | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | Very often (80–99%) | In 1 condition |
| PEX6peroxisomal biogenesis factor 6 | Very often (80–99%) | In 1 condition |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Very often (80–99%) | In 1 condition |
| PSAT1phosphoserine aminotransferase 1 | Very often (80–99%) | In 1 condition |
| SETBP1SET binding protein 1 | Very often (80–99%) | In 1 condition |
| SLC39A8solute carrier family 39 member 8 | Very often (80–99%) | In 1 condition |
| ADKadenosine kinase | Often (30–79%) | In 1 condition |
| DSTdystonin | Often (30–79%) | In 1 condition |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Often (30–79%) | In 1 condition |
| GTPBP1GTP binding protein 1 | Often (30–79%) | In 1 condition |
| GTPBP2GTP binding protein 2 | Often (30–79%) | In 1 condition |
| H4C3H4 clustered histone 3 | Often (30–79%) | In 1 condition |
| ISCA2iron-sulfur cluster assembly 2 | Often (30–79%) | In 1 condition |
| KATNB1katanin regulatory subunit B1 | Often (30–79%) | In 1 condition |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Often (30–79%) | In 1 condition |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Often (30–79%) | In 1 condition |
| MFFmitochondrial fission factor | Often (30–79%) | In 1 condition |
| NDE1nudE neurodevelopment protein 1 | Often (30–79%) | In 2 conditions |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Often (30–79%) | In 1 condition |
| RELNreelin | Often (30–79%) | In 1 condition |
| STRA6signaling receptor and transporter of retinol STRA6 | Often (30–79%) | In 1 condition |
| FGF13fibroblast growth factor 13 | Sometimes (5–29%) | In 1 condition |
| GLYCTKglycerate kinase | Sometimes (5–29%) | In 1 condition |
| ARXaristaless related homeobox | Not recorded | In 1 condition |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Not recorded | In 1 condition |
| COG7component of oligomeric golgi complex 7 | Not recorded | In 1 condition |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Not recorded | In 1 condition |
| DENND5ADENN domain containing 5A | Not recorded | In 1 condition |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| PLEKHG2pleckstrin homology and RhoGEF domain containing G2 | 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.
Broader traits
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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