Tunnus
Delayed ability to stand
A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months.
Kokkuvõte
- Kehasüsteem
- Abnormality of the nervous system
Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/delayed-ability-to-stand.json"
page <- fromJSON(url)
page$trait$nameLugege välja geenid, mis on seotud Delayed ability to stand-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test31 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.
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- KIDINS220-Related Ventriculomegaly and ArthrogryposisReads 1 of these genesKIDINS220About this report →
- Pompe DiseaseReads 1 of these genesGAAAbout this report →
- Bartter DiseaseReads 2 of these genesBSNDCLCNKBAbout this report →
Show 27 more reports
- Encephalopathy due to Mitochondrial and Peroxisomal Fission DefectReads 1 of these genesDNM1LAbout this report →
- Hereditary Episodic AtaxiasReads 1 of these genesSCN2AAbout this report →
- Hereditary Gastrointestinal Stromal TumourReads 1 of these genesSDHBAbout this report →
- Congenital Muscular DystrophiesReads 2 of these genesDPM3COL12A1About this report →
- Hereditary Rickets (Hypophosphatemic and Vitamin D-Dependent)Reads 1 of these genesPHEXAbout this report →
- Malignant Endocrine NeoplasmReads 1 of these genesSDHBAbout this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 1 of these genesITPR1About this report →
- Kidney CancerReads 1 of these genesSDHBAbout this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 1 of these genesDLATAbout this report →
- Hereditary Pheochromocytoma and ParagangliomaReads 1 of these genesSDHBAbout this report →
- Polycystic Kidney DiseaseReads 1 of these genesIFT140About this report →
- Urinary and Renal System TumourReads 1 of these genesSDHBAbout this report →
- Hereditary Optic NeuropathyReads 1 of these genesDNM1LAbout this report →
- Ehlers-Danlos SyndromeReads 1 of these genesCOL12A1About this report →
- Bardet-Biedl and Alström SyndromesReads 1 of these genesALMS1About this report →
- Congenital Disorders of GlycosylationReads 2 of these genesDPM3DOLKAbout this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 1 of these genesITPR1About this report →
- Inherited Neurodegenerative DisordersReads 3 of these genesDNM1LITPR1KIDINS220About this report →
- Dilated CardiomyopathyReads 1 of these genesDOLKAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 2 of these genesMPZDLATAbout this report →
- Intellectual DisabilityReads 2 of these genesAHDC1SCN2AAbout this report →
- Lysosomal Storage DiseaseReads 1 of these genesGAAAbout this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesKIDINS220About this report →
- Leigh SyndromeReads 1 of these genesDLATAbout this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesMPZAbout this report →
- Retinitis PigmentosaReads 1 of these genesIFT140About this report →
- Epilepsy (Full Panel)Reads 1 of these genesSCN2AAbout this report →
Lugege välja geenid, mis on seotud Delayed ability to stand-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test24 geeni on seotud tunnusega Delayed ability to stand
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Delayed ability to stand. 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 |
|---|---|---|
| AHDC1AT-hook DNA binding motif containing 1 | Alati | Esineb 1 haiguses |
| DNM1Ldynamin 1L | Alati | Esineb 1 haiguses |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Alati | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Alati | Esineb 1 haiguses |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alati | Esineb 2 haiguses |
| JKAMPJNK1/MAPK8 associated membrane protein | Alati | Esineb 1 haiguses |
| KIDINS220kinase D interacting substrate 220 | Alati | Esineb 1 haiguses |
| MED16mediator complex subunit 16 | Alati | Esineb 1 haiguses |
| MPZmyelin protein zero | Alati | Esineb 1 haiguses |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Alati | Esineb 1 haiguses |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Alati | Esineb 1 haiguses |
| GAAalpha glucosidase | Väga sageli (80–99%) | Esineb 1 haiguses |
| TTC5tetratricopeptide repeat domain 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BSNDbarttin CLCNK type accessory subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| CLCNKAchloride voltage-gated channel Ka | Sageli (30–79%) | Esineb 1 haiguses |
| CLCNKBchloride voltage-gated channel Kb | Sageli (30–79%) | Esineb 1 haiguses |
| COL12A1collagen type XII alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| DLATdihydrolipoamide S-acetyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| PHEXphosphate regulating endopeptidase X-linked | Sageli (30–79%) | Esineb 1 haiguses |
| PPFIA3PPFI scaffold protein A3 | Sageli (30–79%) | Esineb 1 haiguses |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Sageli (30–79%) | Esineb 1 haiguses |
| ZNF407zinc finger protein 407 | Sageli (30–79%) | Esineb 1 haiguses |
| ALMS1ALMS1 centrosome and basal body associated protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| DOLKdolichol kinase | Mõnikord (5–29%) | 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 2026.10.19-9814e911.
From traits to your genome
Read the genes behind these traits in your own DNA.
The Genome Test sequences nearly all of your DNA, not a preset panel, so every gene on these pages is in your data. Premium adds 810+ physician-ready reports.
Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
