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Træk
Low muscle tone, in neonatal onset
Klinisk navn: Neonatal hypotonia
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Resumé
- Også kaldet
- Hypotonia, in neonatal onset, Hypotonia, neonatal
- Kropssystem
- Abnormality of the musculoskeletal system
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This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/neonatal-hypotonia.json"
page <- fromJSON(url)
page$trait$nameLow muscle tone, in neonatal onsetHP:0001319
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Læs de gener, der er knyttet til Low muscle tone, in neonatal onset, og resten af dit genom, med én test.
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Bestil min Genome Test187 gener knyttet til Low muscle tone, in neonatal onset
Ændringer i disse gener forårsager sjældne tilstande, hvor Low muscle tone, in neonatal onset ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ACOX1acyl-CoA oxidase 1 | Altid | I 1 tilstand |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Altid | I 1 tilstand |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Altid | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Altid | I 1 tilstand |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Altid | I 1 tilstand |
| COA6cytochrome c oxidase assembly factor 6 | Altid | I 1 tilstand |
| COPB1coat protein complex I subunit beta 1 | Altid | I 1 tilstand |
| DSTdystonin | Altid | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Altid | I 1 tilstand |
| FKBP14FKBP prolyl isomerase 14 | Altid | I 1 tilstand |
| FKRPfukutin related protein | Altid | I 3 tilstande |
| FKTNfukutin | Altid | I 2 tilstande |
| FXR1FMR1 autosomal homolog 1 | Altid | I 2 tilstande |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Altid | I 1 tilstand |
| GOT2glutamic-oxaloacetic transaminase 2 | Altid | I 1 tilstand |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Altid | I 2 tilstande |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Altid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Altid | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Altid | I 1 tilstand |
| MAGmyelin associated glycoprotein | Altid | I 1 tilstand |
| MAGEL2MAGE family member L2 | Altid | I 4 tilstande |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Altid | I 1 tilstand |
| MKRN3makorin ring finger protein 3 | Altid | I 1 tilstand |
| MRPS16mitochondrial ribosomal protein S16 | Altid | I 1 tilstand |
| MTM1myotubularin 1 | Altid | I 2 tilstande |
| MYT1Lmyelin transcription factor 1 like | Altid | I 2 tilstande |
| NPAP1nuclear pore associated protein 1 | Altid | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Altid | I 1 tilstand |
| ODC1ornithine decarboxylase 1 | Altid | I 2 tilstande |
| PDSS2decaprenyl diphosphate synthase subunit 2 | Altid | I 1 tilstand |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Altid | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Altid | I 1 tilstand |
| PLCB3phospholipase C beta 3 | Altid | I 1 tilstand |
| POMKprotein O-mannose kinase | Altid | I 2 tilstande |
| POMT1protein O-mannosyltransferase 1 | Altid | I 3 tilstande |
| POMT2protein O-mannosyltransferase 2 | Altid | I 1 tilstand |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Altid | I 1 tilstand |
| PWAR1Prader Willi/Angelman region RNA 1 | Altid | I 1 tilstand |
Vis 147 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| PWRN1Prader-Willi region non-protein coding RNA 1 | Altid | I 1 tilstand |
| RBL2RB transcriptional corepressor like 2 | Altid | I 1 tilstand |
| RYR1ryanodine receptor 1 | Altid | I 3 tilstande |
| SLC25A22solute carrier family 25 member 22 | Altid | I 1 tilstand |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Altid | I 1 tilstand |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Altid | I 1 tilstand |
| SONSON DNA and RNA binding protein | Altid | I 1 tilstand |
| SPTBN4spectrin beta, non-erythrocytic 4 | Altid | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Altid | I 1 tilstand |
| TIMM22translocase of inner mitochondrial membrane 22 | Altid | I 1 tilstand |
| TSFMTs translation elongation factor, mitochondrial | Altid | I 1 tilstand |
| UQCC2ubiquinol-cytochrome c reductase complex assembly factor 2 | Altid | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Meget ofte (80–99 %) | I 4 tilstande |
| HADHhydroxyacyl-CoA dehydrogenase | Meget ofte (80–99 %) | I 1 tilstand |
| HNF1AHNF1 homeobox A | Meget ofte (80–99 %) | I 1 tilstand |
| HNF4Ahepatocyte nuclear factor 4 alpha | Meget ofte (80–99 %) | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Meget ofte (80–99 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Meget ofte (80–99 %) | I 2 tilstande |
| NEXMIFneurite extension and migration factor | Meget ofte (80–99 %) | I 1 tilstand |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Meget ofte (80–99 %) | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Meget ofte (80–99 %) | I 2 tilstande |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Meget ofte (80–99 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Meget ofte (80–99 %) | I 4 tilstande |
| SH2B1SH2B adaptor protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Meget ofte (80–99 %) | I 1 tilstand |
| SUMF1sulfatase modifying factor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| TBCKTBC1 domain containing kinase | Meget ofte (80–99 %) | I 1 tilstand |
| TBR1T-box brain transcription factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TUBA8tubulin alpha 8 | Meget ofte (80–99 %) | I 1 tilstand |
| ATXN7ataxin 7 | Ofte (30–79 %) | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Ofte (30–79 %) | I 1 tilstand |
| CAMTA1calmodulin binding transcription activator 1 | Ofte (30–79 %) | I 2 tilstande |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofte (30–79 %) | I 1 tilstand |
| CFL2cofilin 2 | Ofte (30–79 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Ofte (30–79 %) | I 1 tilstand |
| COL12A1collagen type XII alpha 1 chain | Ofte (30–79 %) | I 2 tilstande |
| CRPPACDP-L-ribitol pyrophosphorylase A | Ofte (30–79 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Ofte (30–79 %) | I 1 tilstand |
| DMPKDM1 protein kinase | Ofte (30–79 %) | I 1 tilstand |
| ERCC6L2ERCC excision repair 6 like 2 | Ofte (30–79 %) | I 1 tilstand |
| H1-4H1.4 linker histone, cluster member | Ofte (30–79 %) | I 1 tilstand |
| KCNK9potassium two pore domain channel subfamily K member 9 | Ofte (30–79 %) | I 1 tilstand |
| KLHL40kelch like family member 40 | Ofte (30–79 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Ofte (30–79 %) | I 2 tilstande |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Ofte (30–79 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Ofte (30–79 %) | I 2 tilstande |
| MADDMAP kinase activating death domain | Ofte (30–79 %) | I 2 tilstande |
| MEG3maternally expressed 3 | Ofte (30–79 %) | I 1 tilstand |
| NADK2NAD kinase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| NDNnecdin, MAGE family member | Ofte (30–79 %) | I 1 tilstand |
| NEBnebulin | Ofte (30–79 %) | I 3 tilstande |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Ofte (30–79 %) | I 1 tilstand |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Ofte (30–79 %) | I 1 tilstand |
| POU4F1POU class 4 homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| PTRH2peptidyl-tRNA hydrolase 2 | Ofte (30–79 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Ofte (30–79 %) | I 2 tilstande |
| RPL10ribosomal protein L10 | Ofte (30–79 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Ofte (30–79 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Ofte (30–79 %) | I 2 tilstande |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Ofte (30–79 %) | I 2 tilstande |
| SPOPspeckle type BTB/POZ protein | Ofte (30–79 %) | I 1 tilstand |
| TNNT1troponin T1, slow skeletal type | Ofte (30–79 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Ofte (30–79 %) | I 1 tilstand |
| USP7ubiquitin specific peptidase 7 | Ofte (30–79 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Ofte (30–79 %) | I 2 tilstande |
| WDR19WD repeat domain 19 | Ofte (30–79 %) | I 1 tilstand |
| ZNF148zinc finger protein 148 | Ofte (30–79 %) | I 1 tilstand |
| AFG2AAAA ATPase AFG2A | Nogle gange (5–29 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Nogle gange (5–29 %) | I 1 tilstand |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Nogle gange (5–29 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Nogle gange (5–29 %) | I 1 tilstand |
| CWC27CWC27 spliceosome associated cyclophilin | Nogle gange (5–29 %) | I 1 tilstand |
| EIF5Aeukaryotic translation initiation factor 5A | Nogle gange (5–29 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GATA6GATA binding protein 6 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMA2laminin subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NTNG1netrin G1 | Nogle gange (5–29 %) | I 1 tilstand |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Nogle gange (5–29 %) | I 1 tilstand |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Nogle gange (5–29 %) | I 1 tilstand |
| PRDM5PR/SET domain 5 | Nogle gange (5–29 %) | I 1 tilstand |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Nogle gange (5–29 %) | I 2 tilstande |
| SLF2SMC5/6 complex localization factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Nogle gange (5–29 %) | I 1 tilstand |
| STAG1STAG1 cohesin complex component | Nogle gange (5–29 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM260transmembrane protein 260 | Nogle gange (5–29 %) | I 1 tilstand |
| VMA21vacuolar ATPase assembly factor VMA21 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF469zinc finger protein 469 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Sjældent (1–4%) | I 1 tilstand |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Sjældent (1–4%) | I 1 tilstand |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Ikke registreret | I 1 tilstand |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Ikke registreret | I 1 tilstand |
| ARXaristaless related homeobox | Ikke registreret | I 1 tilstand |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Ikke registreret | I 1 tilstand |
| BIN1bridging integrator 1 | Ikke registreret | I 1 tilstand |
| CCDC174coiled-coil domain containing 174 | Ikke registreret | I 1 tilstand |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Ikke registreret | I 1 tilstand |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Ikke registreret | I 2 tilstande |
| CHRNDcholinergic receptor nicotinic delta subunit | Ikke registreret | I 1 tilstand |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Ikke registreret | I 1 tilstand |
| CNTN1contactin 1 | Ikke registreret | I 1 tilstand |
| COL6A1collagen type VI alpha 1 chain | Ikke registreret | I 2 tilstande |
| CPT2carnitine palmitoyltransferase 2 | Ikke registreret | I 1 tilstand |
| DLATdihydrolipoamide S-acetyltransferase | Ikke registreret | I 1 tilstand |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| EGR2early growth response 2 | Ikke registreret | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Ikke registreret | I 1 tilstand |
| FLNAfilamin A | Ikke registreret | I 1 tilstand |
| FOXG1forkhead box G1 | Ikke registreret | I 1 tilstand |
| GATAD2BGATA zinc finger domain containing 2B | Ikke registreret | I 1 tilstand |
| GLYCTKglycerate kinase | Ikke registreret | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ikke registreret | I 1 tilstand |
| IER3IP1immediate early response 3 interacting protein 1 | Ikke registreret | I 1 tilstand |
| LYRM4LYR motif containing 4 | Ikke registreret | I 1 tilstand |
| MED12mediator complex subunit 12 | Ikke registreret | I 1 tilstand |
| MEGF10multiple EGF like domains 10 | Ikke registreret | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Ikke registreret | I 1 tilstand |
| PCLOpiccolo presynaptic cytomatrix protein | Ikke registreret | I 1 tilstand |
| PDHXpyruvate dehydrogenase complex component X | Ikke registreret | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Ikke registreret | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Ikke registreret | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Ikke registreret | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Ikke registreret | I 1 tilstand |
| PEX26peroxisomal biogenesis factor 26 | Ikke registreret | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Ikke registreret | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Ikke registreret | I 1 tilstand |
| RAPSNreceptor associated protein of the synapse | Ikke registreret | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ikke registreret | I 1 tilstand |
| SLC12A6solute carrier family 12 member 6 | Ikke registreret | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Ikke registreret | I 1 tilstand |
| SLC6A8solute carrier family 6 member 8 | Ikke registreret | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Ikke registreret | I 1 tilstand |
| SYT1synaptotagmin 1 | Ikke registreret | I 1 tilstand |
| TAF6TATA-box binding protein associated factor 6 | Ikke registreret | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Ikke registreret | I 1 tilstand |
| TPM3tropomyosin 3 | Ikke registreret | I 1 tilstand |
| TUFMTu translation elongation factor, mitochondrial | Ikke registreret | I 1 tilstand |
| UPB1beta-ureidopropionase 1 | Ikke registreret | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Ikke registreret | I 1 tilstand |
| VPS53VPS53 subunit of GARP complex | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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Log indSpørgKom i gangfra 449 $
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger