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Tunnus
Profound global developmental delay
A profound delay in the achievement of motor or mental milestones in the domains of development of a child.
Kokkuvõte
- Teised nimetused
- Global developmental delay, profound
- Kehasüsteem
- Abnormality of the nervous system
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Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/profound-global-developmental-delay.json"
page <- fromJSON(url)
page$trait$nameProfound global developmental delayHP:0012736
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Lugege välja geenid, mis on seotud Profound global developmental delay-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test24 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 13 of these genesPEX1PEX10PEX11BPEX12PEX13PEX14About this report →
- Other Inherited LeukodystrophiesReads 15 of these genesAIMP2PEX1PEX10PEX11BPEX12PEX13About this report →
- Epilepsy (Full Panel)Reads 17 of these genesARV1GLULGOSR2GRIN1KCNT2NECAP1About this report →
- Rothmund-Thomson SyndromeReads 1 of these genesCRIPTAbout this report →
Show 20 more reports
- Stargardt DiseaseReads 1 of these genesELOVL4About this report →
- Hereditary Optic NeuropathyReads 2 of these genesDNM1LOPA1About this report →
- GPI Anchor Biosynthesis DefectsReads 2 of these genesPIGAPIGWAbout this report →
- Congenital Disorders of GlycosylationReads 4 of these genesPIGAPIGWSLC39A8COG7About this report →
- Intellectual DisabilityReads 6 of these genesGRIN1WASHC4ATRXSETBP1ADKFGF13About this report →
- Leigh SyndromeReads 3 of these genesFARS2OPA1MFFAbout this report →
- Disorders of Glycine & Serine MetabolismReads 1 of these genesPSAT1About this report →
- Purine & Pyrimidine Metabolism DisordersReads 1 of these genesPRPS1About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesFLVCR1PEX6About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesATRXAbout this report →
- Epidermolysis BullosaReads 1 of these genesDSTAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesDSTAbout this report →
- Hearing Loss and DeafnessReads 2 of these genesSLC12A2PRPS1About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesAIMP2About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesSTRA6About this report →
- Primary Mitochondrial DiseaseReads 2 of these genesFARS2OPA1About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 1 of these genesELOVL4About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesFARS2About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesPRPS1About this report →
- Retinitis PigmentosaReads 1 of these genesFLVCR1About this report →
Lugege välja geenid, mis on seotud Profound global developmental delay-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test83 geeni on seotud tunnusega Profound global developmental delay
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Profound global developmental delay. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Alati | Esineb 1 haiguses |
| ARV1ARV1 fatty acid homeostasis modulator | Alati | Esineb 1 haiguses |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Alati | Esineb 1 haiguses |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Alati | Esineb 1 haiguses |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Alati | Esineb 1 haiguses |
| COL4A2collagen type IV alpha 2 chain | Alati | Esineb 1 haiguses |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Alati | Esineb 1 haiguses |
| DNM1Ldynamin 1L | Alati | Esineb 1 haiguses |
| ELOVL4ELOVL fatty acid elongase 4 | Alati | Esineb 1 haiguses |
| EML1EMAP like 1 | Alati | Esineb 1 haiguses |
| EPG5ectopic P-granules 5 autophagy tethering factor | Alati | Esineb 1 haiguses |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Alati | Esineb 1 haiguses |
| FLVCR1FLVCR choline and heme transporter 1 | Alati | Esineb 1 haiguses |
| GLULglutamate-ammonia ligase | Alati | Esineb 1 haiguses |
| GOSR2golgi SNAP receptor complex member 2 | Alati | Esineb 1 haiguses |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Alati | Esineb 2 haiguses |
| GUF1GTP binding elongation factor GUF1 | Alati | Esineb 1 haiguses |
| IREB2iron responsive element binding protein 2 | Alati | Esineb 1 haiguses |
| JKAMPJNK1/MAPK8 associated membrane protein | Alati | Esineb 1 haiguses |
| KCNT2potassium sodium-activated channel subfamily T member 2 | Alati | Esineb 1 haiguses |
| LIPT2lipoyl(octanoyl) transferase 2 | Alati | Esineb 1 haiguses |
| NECAP1NECAP endocytosis associated 1 | Alati | Esineb 1 haiguses |
| NEUROG1neurogenin 1 | Alati | Esineb 1 haiguses |
| OPA1OPA1 mitochondrial dynamin like GTPase | Alati | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alati | Esineb 1 haiguses |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Alati | Esineb 1 haiguses |
| PRUNE1prune exopolyphosphatase 1 | Alati | Esineb 1 haiguses |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Alati | Esineb 1 haiguses |
| QARS1glutaminyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| SLC12A2solute carrier family 12 member 2 | Alati | Esineb 1 haiguses |
| SLC9A6solute carrier family 9 member A6 | Alati | Esineb 1 haiguses |
| SZT2SZT2 subunit of KICSTOR complex | Alati | Esineb 1 haiguses |
| TBCKTBC1 domain containing kinase | Alati | Esineb 1 haiguses |
| TMEM63Btransmembrane protein 63B | Alati | Esineb 1 haiguses |
| TRA2Btransformer 2 beta homolog | Alati | Esineb 1 haiguses |
| UNC80unc-80 subunit of NALCN channel complex | Alati | Esineb 1 haiguses |
| WASHC4WASH complex subunit 4 | Alati | Esineb 1 haiguses |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Alati | Esineb 1 haiguses |
Näita veel 43 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ZNF526zinc finger protein 526 | Alati | Esineb 1 haiguses |
| ATRXATRX chromatin remodeler | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX10peroxisomal biogenesis factor 10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX11Bperoxisomal biogenesis factor 11 beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX12peroxisomal biogenesis factor 12 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX13peroxisomal biogenesis factor 13 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX14peroxisomal biogenesis factor 14 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX16peroxisomal biogenesis factor 16 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX19peroxisomal biogenesis factor 19 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX2peroxisomal biogenesis factor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX26peroxisomal biogenesis factor 26 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX3peroxisomal biogenesis factor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX5peroxisomal biogenesis factor 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX6peroxisomal biogenesis factor 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Väga sageli (80–99%) | Esineb 1 haiguses |
| PSAT1phosphoserine aminotransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SETBP1SET binding protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC39A8solute carrier family 39 member 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ADKadenosine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| DSTdystonin | Sageli (30–79%) | Esineb 1 haiguses |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Sageli (30–79%) | Esineb 1 haiguses |
| GTPBP1GTP binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GTPBP2GTP binding protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| H4C3H4 clustered histone 3 | Sageli (30–79%) | Esineb 1 haiguses |
| ISCA2iron-sulfur cluster assembly 2 | Sageli (30–79%) | Esineb 1 haiguses |
| KATNB1katanin regulatory subunit B1 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MFFmitochondrial fission factor | Sageli (30–79%) | Esineb 1 haiguses |
| NDE1nudE neurodevelopment protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RELNreelin | Sageli (30–79%) | Esineb 1 haiguses |
| STRA6signaling receptor and transporter of retinol STRA6 | Sageli (30–79%) | Esineb 1 haiguses |
| FGF13fibroblast growth factor 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GLYCTKglycerate kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARXaristaless related homeobox | Pole registreeritud | Esineb 1 haiguses |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Pole registreeritud | Esineb 1 haiguses |
| COG7component of oligomeric golgi complex 7 | Pole registreeritud | Esineb 1 haiguses |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Pole registreeritud | Esineb 1 haiguses |
| DENND5ADENN domain containing 5A | Pole registreeritud | Esineb 1 haiguses |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| PLEKHG2pleckstrin homology and RhoGEF domain containing G2 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.17-8666dff2.
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Read the genes behind these traits in your own DNA.
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Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
