Træk
Poor speech
Resumé
- Også kaldet
- Difficulty speaking, Problems speaking
- Kropssystem
- Abnormality of the nervous system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test198 gener knyttet til Poor speech
Ændringer i disse gener forårsager sjældne tilstande, hvor Poor speech 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 |
|---|---|---|
| ADKadenosine kinase | Altid | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Altid | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Altid | I 1 tilstand |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Altid | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Altid | I 1 tilstand |
| HEPHL1hephaestin like 1 | Altid | I 1 tilstand |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Altid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altid | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Altid | I 1 tilstand |
| MRPS2mitochondrial ribosomal protein S2 | Altid | I 1 tilstand |
| PIGCphosphatidylinositol glycan anchor biosynthesis class C | Altid | I 1 tilstand |
| SASS6SAS-6 centriolar assembly protein | Altid | I 1 tilstand |
| SGSM3small G protein signaling modulator 3 | Altid | I 1 tilstand |
| SNAP25synaptosome associated protein 25 | Altid | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Meget ofte (80–99 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Meget ofte (80–99 %) | I 1 tilstand |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Meget ofte (80–99 %) | I 1 tilstand |
| CASZ1castor zinc finger 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CHMP2Bcharged multivesicular body protein 2B | Meget ofte (80–99 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Meget ofte (80–99 %) | I 1 tilstand |
| FMN2formin 2 | Meget ofte (80–99 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Meget ofte (80–99 %) | I 1 tilstand |
| GRNgranulin precursor | Meget ofte (80–99 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Meget ofte (80–99 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Meget ofte (80–99 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Meget ofte (80–99 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| LAS1LLAS1 like ribosome biogenesis factor | Meget ofte (80–99 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MAPTmicrotubule associated protein tau | Meget ofte (80–99 %) | I 2 tilstande |
| MMP23Bmatrix metallopeptidase 23B | Meget ofte (80–99 %) | I 1 tilstand |
| PAK3p21 (RAC1) activated kinase 3 | Meget ofte (80–99 %) | I 1 tilstand |
| PDPNpodoplanin | Meget ofte (80–99 %) | I 1 tilstand |
| PRDM16PR/SET domain 16 | Meget ofte (80–99 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Meget ofte (80–99 %) | I 1 tilstand |
| PSEN1presenilin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Meget ofte (80–99 %) | I 1 tilstand |
| SKISKI proto-oncogene | Meget ofte (80–99 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Meget ofte (80–99 %) | I 1 tilstand |
Vis 158 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| SQSTM1sequestosome 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM106Btransmembrane protein 106B | Meget ofte (80–99 %) | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Meget ofte (80–99 %) | I 2 tilstande |
| UBE2Aubiquitin conjugating enzyme E2 A | Meget ofte (80–99 %) | I 2 tilstande |
| UBE4Bubiquitination factor E4B | Meget ofte (80–99 %) | I 1 tilstand |
| VCPvalosin containing protein | Meget ofte (80–99 %) | I 1 tilstand |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Ofte (30–79 %) | I 1 tilstand |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Ofte (30–79 %) | I 1 tilstand |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Ofte (30–79 %) | I 1 tilstand |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Ofte (30–79 %) | I 1 tilstand |
| ASPAaspartoacylase | Ofte (30–79 %) | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Ofte (30–79 %) | I 1 tilstand |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| BRF1BRF1 general transcription factor IIIB subunit | Ofte (30–79 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Ofte (30–79 %) | I 4 tilstande |
| CNTNAP2contactin associated protein 2 | Ofte (30–79 %) | I 2 tilstande |
| COG8component of oligomeric golgi complex 8 | Ofte (30–79 %) | I 1 tilstand |
| CRIPTOcripto, EGF-CFC family member | Ofte (30–79 %) | I 4 tilstande |
| DISP1dispatched RND transporter family member 1 | Ofte (30–79 %) | I 4 tilstande |
| DLL1delta like canonical Notch ligand 1 | Ofte (30–79 %) | I 4 tilstande |
| DOCK7dedicator of cytokinesis 7 | Ofte (30–79 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Ofte (30–79 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Ofte (30–79 %) | I 1 tilstand |
| FDXRferredoxin reductase | Ofte (30–79 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Ofte (30–79 %) | I 4 tilstande |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 2 tilstande |
| FOXH1forkhead box H1 | Ofte (30–79 %) | I 4 tilstande |
| FOXP2forkhead box P2 | Ofte (30–79 %) | I 1 tilstand |
| GAMTguanidinoacetate N-methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| GAS1growth arrest specific 1 | Ofte (30–79 %) | I 4 tilstande |
| GATA4GATA binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GATAD2BGATA zinc finger domain containing 2B | Ofte (30–79 %) | I 2 tilstande |
| GLI2GLI family zinc finger 2 | Ofte (30–79 %) | I 4 tilstande |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ofte (30–79 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ofte (30–79 %) | I 3 tilstande |
| INPP5Einositol polyphosphate-5-phosphatase E | Ofte (30–79 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Ofte (30–79 %) | I 1 tilstand |
| MAB21L1mab-21 like 1 | Ofte (30–79 %) | I 1 tilstand |
| MAN1B1mannosidase alpha class 1B member 1 | Ofte (30–79 %) | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Ofte (30–79 %) | I 2 tilstande |
| MED25mediator complex subunit 25 | Ofte (30–79 %) | I 1 tilstand |
| MID2midline 2 | Ofte (30–79 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Ofte (30–79 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Ofte (30–79 %) | I 4 tilstande |
| OPHN1oligophrenin 1 | Ofte (30–79 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Ofte (30–79 %) | I 1 tilstand |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Ofte (30–79 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Ofte (30–79 %) | I 1 tilstand |
| PTCH1patched 1 | Ofte (30–79 %) | I 4 tilstande |
| PUS3pseudouridine synthase 3 | Ofte (30–79 %) | I 1 tilstand |
| RAC1Rac family small GTPase 1 | Ofte (30–79 %) | I 1 tilstand |
| RILPL1Rab interacting lysosomal protein like 1 | Ofte (30–79 %) | I 1 tilstand |
| RTTNrotatin | Ofte (30–79 %) | I 2 tilstande |
| SHHsonic hedgehog signaling molecule | Ofte (30–79 %) | I 4 tilstande |
| SIX3SIX homeobox 3 | Ofte (30–79 %) | I 4 tilstande |
| SLC19A3solute carrier family 19 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Ofte (30–79 %) | I 1 tilstand |
| SLC6A17solute carrier family 6 member 17 | Ofte (30–79 %) | I 1 tilstand |
| STILSTIL centriolar assembly protein | Ofte (30–79 %) | I 4 tilstande |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TAF2TATA-box binding protein associated factor 2 | Ofte (30–79 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Ofte (30–79 %) | I 1 tilstand |
| TELO2telomere maintenance 2 | Ofte (30–79 %) | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Ofte (30–79 %) | I 4 tilstande |
| TRAPPC10trafficking protein particle complex subunit 10 | Ofte (30–79 %) | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Ofte (30–79 %) | I 1 tilstand |
| TRMT5tRNA methyltransferase 5 | Ofte (30–79 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Ofte (30–79 %) | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Ofte (30–79 %) | I 3 tilstande |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Ofte (30–79 %) | I 2 tilstande |
| WDR45WD repeat domain 45 | Ofte (30–79 %) | I 2 tilstande |
| YME1L1YME1 like 1 ATPase | Ofte (30–79 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Ofte (30–79 %) | I 4 tilstande |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP10AATPase phospholipid transporting 10A (putative) | Nogle gange (5–29 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Nogle gange (5–29 %) | I 1 tilstand |
| CDC42cell division cycle 42 | Nogle gange (5–29 %) | I 1 tilstand |
| CHSY1chondroitin sulfate synthase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CLIC2CLIC family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DAG1dystroglycan 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DYMdymeclin | Nogle gange (5–29 %) | I 1 tilstand |
| FKRPfukutin related protein | Nogle gange (5–29 %) | I 1 tilstand |
| FRMD4AFERM domain containing 4A | Nogle gange (5–29 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Nogle gange (5–29 %) | I 1 tilstand |
| IFNGinterferon gamma | Nogle gange (5–29 %) | I 1 tilstand |
| KIF15kinesin family member 15 | Nogle gange (5–29 %) | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MID1midline 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MTO1mitochondrial tRNA translation optimization 1 | Nogle gange (5–29 %) | I 2 tilstande |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NAGSN-acetylglutamate synthase | Nogle gange (5–29 %) | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Nogle gange (5–29 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Nogle gange (5–29 %) | I 1 tilstand |
| ODC1ornithine decarboxylase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PLCH1phospholipase C eta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SARDHsarcosine dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC39A8solute carrier family 39 member 8 | Nogle gange (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Nogle gange (5–29 %) | I 2 tilstande |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Nogle gange (5–29 %) | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Nogle gange (5–29 %) | I 2 tilstande |
| SYT1synaptotagmin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TSC1TSC complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TSC2TSC complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF148zinc finger protein 148 | Nogle gange (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Sjældent (1–4%) | I 2 tilstande |
| ADPRSADP-ribosylserine hydrolase | Ikke registreret | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Ikke registreret | I 1 tilstand |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Ikke registreret | I 1 tilstand |
| CHKBcholine kinase beta | Ikke registreret | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Ikke registreret | I 1 tilstand |
| CICcapicua transcriptional repressor | Ikke registreret | I 1 tilstand |
| CSF1Rcolony stimulating factor 1 receptor | Ikke registreret | I 1 tilstand |
| DIAPH1diaphanous related formin 1 | Ikke registreret | I 1 tilstand |
| DLATdihydrolipoamide S-acetyltransferase | Ikke registreret | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ikke registreret | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Ikke registreret | I 1 tilstand |
| FBXL3F-box and leucine rich repeat protein 3 | Ikke registreret | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Ikke registreret | I 1 tilstand |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Ikke registreret | I 1 tilstand |
| GJC2gap junction protein gamma 2 | Ikke registreret | I 1 tilstand |
| GPR88G protein-coupled receptor 88 | Ikke registreret | I 1 tilstand |
| GUSBglucuronidase beta | Ikke registreret | I 1 tilstand |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Ikke registreret | I 1 tilstand |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Ikke registreret | I 1 tilstand |
| KIF14kinesin family member 14 | Ikke registreret | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Ikke registreret | I 1 tilstand |
| NDST1N-deacetylase and N-sulfotransferase 1 | Ikke registreret | I 1 tilstand |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Ikke registreret | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Ikke registreret | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Ikke registreret | I 1 tilstand |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Ikke registreret | I 1 tilstand |
| PAK1p21 (RAC1) activated kinase 1 | Ikke registreret | I 1 tilstand |
| PIGHphosphatidylinositol glycan anchor biosynthesis class H | Ikke registreret | I 1 tilstand |
| PLPBPpyridoxal phosphate binding protein | Ikke registreret | I 1 tilstand |
| POMKprotein O-mannose kinase | Ikke registreret | I 1 tilstand |
| RAB39BRAB39B, member RAS oncogene family | Ikke registreret | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Ikke registreret | I 1 tilstand |
| RNASET2ribonuclease T2 | Ikke registreret | I 1 tilstand |
| SETSET nuclear proto-oncogene | Ikke registreret | I 1 tilstand |
| SLC35A1solute carrier family 35 member A1 | Ikke registreret | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Ikke registreret | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Ikke registreret | I 1 tilstand |
| SOBPsine oculis binding protein homolog | Ikke registreret | I 1 tilstand |
| TAF6TATA-box binding protein associated factor 6 | Ikke registreret | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Ikke registreret | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Ikke registreret | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Ikke registreret | I 1 tilstand |
| TUBB4Atubulin beta 4A class IVa | Ikke registreret | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registreret | I 1 tilstand |
| UQCC2ubiquinol-cytochrome c reductase complex assembly factor 2 | Ikke registreret | I 1 tilstand |
| VLDLRvery low density lipoprotein receptor | Ikke registreret | I 1 tilstand |
| WDR73WD repeat domain 73 | Ikke registreret | I 1 tilstand |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | 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.
Bredere træk
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.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger