Tunnus
Abnormal speech pattern
An abnormality in the sound (volume) or cadence (rate) of speech.
Kokkuvõte
- Teised nimetused
- Abnormal speech, Abnormal vocalisation, Abnormal vocalization, Abnormality of speech or vocalization
- Kehasüsteem
- Abnormality of the nervous system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
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Telli oma Genome Test251 geeni on seotud tunnusega Abnormal speech pattern
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Abnormal speech pattern. 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 |
|---|---|---|
| MN1MN1 proto-oncogene, transcriptional regulator | Alati | Esineb 1 haiguses |
| ABCB7ATP binding cassette subfamily B member 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ACOX1acyl-CoA oxidase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ADNPactivity dependent neuroprotector homeobox | Väga sageli (80–99%) | Esineb 1 haiguses |
| AGAaspartylglucosaminidase | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARG1arginase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ASXL3ASXL transcriptional regulator 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATMATM serine/threonine kinase | Väga sageli (80–99%) | Esineb 2 haiguses |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Väga sageli (80–99%) | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Väga sageli (80–99%) | Esineb 2 haiguses |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Väga sageli (80–99%) | Esineb 1 haiguses |
| CASZ1castor zinc finger 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CBLCbl proto-oncogene | Väga sageli (80–99%) | Esineb 1 haiguses |
| CCDC22CCC complex scaffolding subunit CCDC22 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLIP2CAP-Gly domain containing linker protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CPT1Acarnitine palmitoyltransferase 1A | Väga sageli (80–99%) | Esineb 1 haiguses |
| CRPPACDP-L-ribitol pyrophosphorylase A | Väga sageli (80–99%) | Esineb 1 haiguses |
| CUL4Bcullin 4B | Väga sageli (80–99%) | Esineb 1 haiguses |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DPYSL5dihydropyrimidinase like 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EIF4Heukaryotic translation initiation factor 4H | Väga sageli (80–99%) | Esineb 1 haiguses |
| ELNelastin | Väga sageli (80–99%) | Esineb 1 haiguses |
| ELOVL4ELOVL fatty acid elongase 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Väga sageli (80–99%) | Esineb 1 haiguses |
| FKRPfukutin related protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| FKTNfukutin | Väga sageli (80–99%) | Esineb 1 haiguses |
| FMR1fragile X messenger ribonucleoprotein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FOXP2forkhead box P2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Väga sageli (80–99%) | Esineb 1 haiguses |
| GATA2GATA binding protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GDF5growth differentiation factor 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GMPPBGDP-mannose pyrophosphorylase B | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2Igeneral transcription factor IIi | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2IRD1GTF2I repeat domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2IRD2GTF2I repeat domain containing 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HBA1hemoglobin subunit alpha 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
Näita veel 211 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| HBA2hemoglobin subunit alpha 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 4 haiguses |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LIMK1LIM domain kinase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LUZP1leucine zipper protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LZTR1leucine zipper like post translational regulator 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MAP2K1mitogen-activated protein kinase kinase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MAP2K2mitogen-activated protein kinase kinase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MAPTmicrotubule associated protein tau | Väga sageli (80–99%) | Esineb 3 haiguses |
| MECP2methyl-CpG binding protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Väga sageli (80–99%) | Esineb 1 haiguses |
| METTL27methyltransferase like 27 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MMP23Bmatrix metallopeptidase 23B | Väga sageli (80–99%) | Esineb 1 haiguses |
| MRASmuscle RAS oncogene homolog | Väga sageli (80–99%) | Esineb 1 haiguses |
| NCF1neutrophil cytosolic factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NEU1neuraminidase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NOTCH2NLCnotch 2 N-terminal like C | Väga sageli (80–99%) | Esineb 1 haiguses |
| NRASNRAS proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 1 haiguses |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDPNpodoplanin | Väga sageli (80–99%) | Esineb 1 haiguses |
| PNPLA6patatin like domain 6, lysophospholipase | Väga sageli (80–99%) | Esineb 1 haiguses |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Väga sageli (80–99%) | Esineb 1 haiguses |
| POMT1protein O-mannosyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| POMT2protein O-mannosyltransferase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRDM16PR/SET domain 16 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRKCZprotein kinase C zeta | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRRT2proline rich transmembrane protein 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RAB39BRAB39B, member RAS oncogene family | Väga sageli (80–99%) | Esineb 1 haiguses |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| RAI1retinoic acid induced 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RASA2RAS p21 protein activator 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| REREarginine-glutamic acid dipeptide repeats | Väga sageli (80–99%) | Esineb 1 haiguses |
| RFC2replication factor C subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RIT1Ras like without CAAX 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNF216ring finger protein 216 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RPS6KA3ribosomal protein S6 kinase A3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RRASRAS related | Väga sageli (80–99%) | Esineb 1 haiguses |
| RRAS2RAS related 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SIL1SIL1 nucleotide exchange factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| SKISKI proto-oncogene | Väga sageli (80–99%) | Esineb 1 haiguses |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SPENspen family transcriptional repressor | Väga sageli (80–99%) | Esineb 1 haiguses |
| SPRED2sprouty related EVH1 domain containing 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| STIM1stromal interaction molecule 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| STX1Asyntaxin 1A | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBL2transducin beta like 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TIMM50translocase of inner mitochondrial membrane 50 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM270transmembrane protein 270 | Väga sageli (80–99%) | Esineb 1 haiguses |
| UBE4Bubiquitination factor E4B | Väga sageli (80–99%) | Esineb 1 haiguses |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Väga sageli (80–99%) | Esineb 1 haiguses |
| VPS13Bvacuolar protein sorting 13 homolog B | Väga sageli (80–99%) | Esineb 1 haiguses |
| VPS35LVPS35 endosomal protein sorting factor like | Väga sageli (80–99%) | Esineb 1 haiguses |
| VPS37DVPS37D subunit of ESCRT-I | Väga sageli (80–99%) | Esineb 1 haiguses |
| WASHC5WASH complex subunit 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZC4H2zinc finger C4H2-type containing | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZDHHC9zDHHC palmitoyltransferase 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ADARadenosine deaminase RNA specific | Sageli (30–79%) | Esineb 1 haiguses |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Sageli (30–79%) | Esineb 2 haiguses |
| ATP13A2ATPase cation transporting 13A2 | Sageli (30–79%) | Esineb 1 haiguses |
| BRD4bromodomain containing 4 | Sageli (30–79%) | Esineb 1 haiguses |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Sageli (30–79%) | Esineb 1 haiguses |
| CHMP2Bcharged multivesicular body protein 2B | Sageli (30–79%) | Esineb 1 haiguses |
| CLN8CLN8 transmembrane ER and ERGIC protein | Sageli (30–79%) | Esineb 1 haiguses |
| DAB1DAB adaptor protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| ERLIN1ER lipid raft associated 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FUSFUS RNA binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| GPC3glypican 3 | Sageli (30–79%) | Esineb 1 haiguses |
| GPC4glypican 4 | Sageli (30–79%) | Esineb 1 haiguses |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| GRM1glutamate metabotropic receptor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GRNgranulin precursor | Sageli (30–79%) | Esineb 1 haiguses |
| HDAC8histone deacetylase 8 | Sageli (30–79%) | Esineb 1 haiguses |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MAU2MAU2 sister chromatid cohesion factor | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sageli (30–79%) | Esineb 1 haiguses |
| MTORmechanistic target of rapamycin kinase | Sageli (30–79%) | Esineb 1 haiguses |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Sageli (30–79%) | Esineb 1 haiguses |
| MYH3myosin heavy chain 3 | Sageli (30–79%) | Esineb 1 haiguses |
| NALCNsodium leak channel, non-selective | Sageli (30–79%) | Esineb 1 haiguses |
| NECTIN1nectin cell adhesion molecule 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NIPBLNIPBL cohesin loading factor | Sageli (30–79%) | Esineb 1 haiguses |
| NUP54nucleoporin 54 | Sageli (30–79%) | Esineb 1 haiguses |
| NUP62nucleoporin 62 | Sageli (30–79%) | Esineb 1 haiguses |
| OCA2OCA2 melanosomal transmembrane protein | Sageli (30–79%) | Esineb 1 haiguses |
| OPHN1oligophrenin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PAX6paired box 6 | Sageli (30–79%) | Esineb 1 haiguses |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PLP1proteolipid protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| PSEN1presenilin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RAD21RAD21 cohesin complex component | Sageli (30–79%) | Esineb 1 haiguses |
| SAMD9Lsterile alpha motif domain containing 9 like | Sageli (30–79%) | Esineb 1 haiguses |
| SIGMAR1sigma receptor chaperone 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Sageli (30–79%) | Esineb 1 haiguses |
| SMC3structural maintenance of chromosomes 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SORDsorbitol dehydrogenase | Sageli (30–79%) | Esineb 1 haiguses |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Sageli (30–79%) | Esineb 1 haiguses |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TARDBPTAR DNA binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| TBK1TANK binding kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TFAP2Atranscription factor AP-2 alpha | Sageli (30–79%) | Esineb 1 haiguses |
| TICAM1TIR domain containing adaptor molecule 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TLR3toll like receptor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM106Btransmembrane protein 106B | Sageli (30–79%) | Esineb 1 haiguses |
| TRAF3TNF receptor associated factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TRANK1tetratricopeptide repeat and ankyrin repeat containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TREM2triggering receptor expressed on myeloid cells 2 | Sageli (30–79%) | Esineb 3 haiguses |
| TRMT2BtRNA methyltransferase 2B | Sageli (30–79%) | Esineb 1 haiguses |
| TTPAalpha tocopherol transfer protein | Sageli (30–79%) | Esineb 1 haiguses |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Sageli (30–79%) | Esineb 2 haiguses |
| UBE3Aubiquitin protein ligase E3A | Sageli (30–79%) | Esineb 3 haiguses |
| UBQLN2ubiquilin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| UNC93B1unc-93B1 regulator of TLR signaling | Sageli (30–79%) | Esineb 1 haiguses |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 2 haiguses |
| ABCD1ATP binding cassette subfamily D member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARL6ARF like GTPase 6 | Mõnikord (5–29%) | Esineb 2 haiguses |
| BBIP1BBSome interacting protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS1Bardet-Biedl syndrome 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| BBS10Bardet-Biedl syndrome 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS12Bardet-Biedl syndrome 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS2Bardet-Biedl syndrome 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS4Bardet-Biedl syndrome 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS5Bardet-Biedl syndrome 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS7Bardet-Biedl syndrome 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS9Bardet-Biedl syndrome 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BCORBCL6 corepressor | Mõnikord (5–29%) | Esineb 1 haiguses |
| BMPR1Abone morphogenetic protein receptor type 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRCA2BRCA2 DNA repair associated | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP19centrosomal protein 19 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP290centrosomal protein 290 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CFAP418cilia and flagella associated protein 418 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHEK2checkpoint kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CXCR4C-X-C motif chemokine receptor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EPCAMepithelial cell adhesion molecule | Mõnikord (5–29%) | Esineb 1 haiguses |
| FLGfilaggrin | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXI1forkhead box I1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-Bmajor histocompatibility complex, class I, B | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT172intraflagellar transport 172 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT27intraflagellar transport 27 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT74intraflagellar transport 74 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL12Binterleukin 12B | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LPIN1lipin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LZTFL1leucine zipper transcription factor like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MKKSMKKS centrosomal shuttling protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| MKS1MKS transition zone complex subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MLH1mutL homolog 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MLXMAX dimerization protein MLX | Mõnikord (5–29%) | Esineb 1 haiguses |
| MMACHCmetabolism of cobalamin associated C | Mõnikord (5–29%) | Esineb 1 haiguses |
| MORC2MORC family CW-type zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MSH2mutS homolog 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MSH6mutS homolog 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Mõnikord (5–29%) | Esineb 1 haiguses |
| MUTYHmutY DNA glycosylase | Mõnikord (5–29%) | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPATnuclear protein, coactivator of histone transcription | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPHP1nephrocystin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Mõnikord (5–29%) | Esineb 1 haiguses |
| PANK2pantothenate kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Mõnikord (5–29%) | Esineb 2 haiguses |
| PMS1PMS1 homolog 1, mismatch repair system component | Mõnikord (5–29%) | Esineb 1 haiguses |
| PMS2PMS1 homolog 2, mismatch repair system component | Mõnikord (5–29%) | Esineb 1 haiguses |
| PNKDPNKD metallo-beta-lactamase domain containing | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLD1DNA polymerase delta 1, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLEDNA polymerase epsilon, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTENphosphatase and tensin homolog | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS20ribosomal protein S20 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCAPERS-phase cyclin A associated protein in the ER | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCLT1sodium channel and clathrin linker 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEMA4Asemaphorin 4A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEPTIN9septin 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC26A4solute carrier family 26 member 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STSsteroid sulfatase | Mõnikord (5–29%) | Esineb 1 haiguses |
| STUB1STIP1 homology and U-box containing protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TATtyrosine aminotransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBXAS1thromboxane A synthase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGFB1transforming growth factor beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGFBR2transforming growth factor beta receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIM32tripartite motif containing 32 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTC8tetratricopeptide repeat domain 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| WDPCPWD repeat containing planar cell polarity effector | Mõnikord (5–29%) | Esineb 1 haiguses |
| AKT1AKT serine/threonine kinase 1 | Harva (1–4%) | Esineb 1 haiguses |
| BAP1BRCA1 associated deubiquitinase 1 | Harva (1–4%) | Esineb 1 haiguses |
| HALhistidine ammonia-lyase | Harva (1–4%) | Esineb 1 haiguses |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Harva (1–4%) | Esineb 1 haiguses |
| PDGFBplatelet derived growth factor subunit B | Harva (1–4%) | Esineb 1 haiguses |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Harva (1–4%) | Esineb 1 haiguses |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Harva (1–4%) | Esineb 1 haiguses |
| SMOsmoothened, frizzled class receptor | Harva (1–4%) | Esineb 1 haiguses |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harva (1–4%) | Esineb 1 haiguses |
| SUFUSUFU negative regulator of hedgehog signaling | Harva (1–4%) | Esineb 1 haiguses |
| TERTtelomerase reverse transcriptase | Harva (1–4%) | Esineb 1 haiguses |
| TRAF7TNF receptor associated factor 7 | Harva (1–4%) | Esineb 1 haiguses |
| CCDC28Bcoiled-coil domain containing 28B | Pole registreeritud | Esineb 1 haiguses |
| DNAAF4dynein axonemal assembly factor 4 | Pole registreeritud | Esineb 1 haiguses |
| FHfumarate hydratase | Pole registreeritud | Esineb 1 haiguses |
| GBA1glucosylceramidase beta 1 | Pole registreeritud | Esineb 1 haiguses |
| MANBAmannosidase beta | Pole registreeritud | Esineb 1 haiguses |
| UPB1beta-ureidopropionase 1 | 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.
Kitsamad tunnused
- Delayed speech and language development983 geeni
- Difficulty articulating speech601 geeni
- Poor speech198 geeni
- Difficulty finding words95 geeni
- Dysgraphia54 geeni
- Inability to speak52 geeni
- Loss of speech46 geeni
- Loss of articulate speech26 geeni
- Stuttering25 geeni
- Explosive speech16 geeni
- Abnormal prosody15 geeni
- Incomprehensible speech8 geeni
- Text blindness7 geeni
- Abnormal speech rate
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 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
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