Piirre
Abnormal speech pattern
An abnormality in the sound (volume) or cadence (rate) of speech.
Yhteenveto
- Tunnetaan myös nimellä
- Abnormal speech, Abnormal vocalisation, Abnormal vocalization, Abnormality of speech or vocalization
- Elimistön järjestelmä
- Abnormality of the nervous system
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
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Tilaa Genome Test251 geeniä, jotka liittyvät piirteeseen Abnormal speech pattern
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Abnormal speech pattern esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| MN1MN1 proto-oncogene, transcriptional regulator | Aina | 1 sairaudessa |
| ABCB7ATP binding cassette subfamily B member 7 | Hyvin usein (80–99%) | 1 sairaudessa |
| ACOX1acyl-CoA oxidase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| ADNPactivity dependent neuroprotector homeobox | Hyvin usein (80–99%) | 1 sairaudessa |
| AGAaspartylglucosaminidase | Hyvin usein (80–99%) | 1 sairaudessa |
| ARG1arginase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| ASXL3ASXL transcriptional regulator 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| ATMATM serine/threonine kinase | Hyvin usein (80–99%) | 2 sairaudessa |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Hyvin usein (80–99%) | 1 sairaudessa |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Hyvin usein (80–99%) | 2 sairaudessa |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Hyvin usein (80–99%) | 1 sairaudessa |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Hyvin usein (80–99%) | 1 sairaudessa |
| CASZ1castor zinc finger 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CBLCbl proto-oncogene | Hyvin usein (80–99%) | 1 sairaudessa |
| CCDC22CCC complex scaffolding subunit CCDC22 | Hyvin usein (80–99%) | 1 sairaudessa |
| CLIP2CAP-Gly domain containing linker protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| CPT1Acarnitine palmitoyltransferase 1A | Hyvin usein (80–99%) | 1 sairaudessa |
| CRPPACDP-L-ribitol pyrophosphorylase A | Hyvin usein (80–99%) | 1 sairaudessa |
| CUL4Bcullin 4B | Hyvin usein (80–99%) | 1 sairaudessa |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Hyvin usein (80–99%) | 1 sairaudessa |
| DPYSL5dihydropyrimidinase like 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| EIF4Heukaryotic translation initiation factor 4H | Hyvin usein (80–99%) | 1 sairaudessa |
| ELNelastin | Hyvin usein (80–99%) | 1 sairaudessa |
| ELOVL4ELOVL fatty acid elongase 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Hyvin usein (80–99%) | 1 sairaudessa |
| FKRPfukutin related protein | Hyvin usein (80–99%) | 1 sairaudessa |
| FKTNfukutin | Hyvin usein (80–99%) | 1 sairaudessa |
| FMR1fragile X messenger ribonucleoprotein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| FOXP2forkhead box P2 | Hyvin usein (80–99%) | 2 sairaudessa |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Hyvin usein (80–99%) | 1 sairaudessa |
| GATA2GATA binding protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| GDF5growth differentiation factor 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| GMPPBGDP-mannose pyrophosphorylase B | Hyvin usein (80–99%) | 1 sairaudessa |
| GTF2Igeneral transcription factor IIi | Hyvin usein (80–99%) | 1 sairaudessa |
| GTF2IRD1GTF2I repeat domain containing 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| GTF2IRD2GTF2I repeat domain containing 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| HBA1hemoglobin subunit alpha 1 | Hyvin usein (80–99%) | 1 sairaudessa |
Näytä 211 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| HBA2hemoglobin subunit alpha 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| HSPG2heparan sulfate proteoglycan 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| KRASKRas proto-oncogene, GTPase | Hyvin usein (80–99%) | 4 sairaudessa |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| LIMK1LIM domain kinase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| LUZP1leucine zipper protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| LZTR1leucine zipper like post translational regulator 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| MAP2K1mitogen-activated protein kinase kinase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| MAP2K2mitogen-activated protein kinase kinase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| MAPTmicrotubule associated protein tau | Hyvin usein (80–99%) | 3 sairaudessa |
| MECP2methyl-CpG binding protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| MED12mediator complex subunit 12 | Hyvin usein (80–99%) | 1 sairaudessa |
| METTL27methyltransferase like 27 | Hyvin usein (80–99%) | 1 sairaudessa |
| MMP23Bmatrix metallopeptidase 23B | Hyvin usein (80–99%) | 1 sairaudessa |
| MRASmuscle RAS oncogene homolog | Hyvin usein (80–99%) | 1 sairaudessa |
| NCF1neutrophil cytosolic factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NEU1neuraminidase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NOTCH2NLCnotch 2 N-terminal like C | Hyvin usein (80–99%) | 1 sairaudessa |
| NRASNRAS proto-oncogene, GTPase | Hyvin usein (80–99%) | 1 sairaudessa |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| PDPNpodoplanin | Hyvin usein (80–99%) | 1 sairaudessa |
| PNPLA6patatin like domain 6, lysophospholipase | Hyvin usein (80–99%) | 1 sairaudessa |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Hyvin usein (80–99%) | 1 sairaudessa |
| POMT1protein O-mannosyltransferase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| POMT2protein O-mannosyltransferase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRDM16PR/SET domain 16 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRKCZprotein kinase C zeta | Hyvin usein (80–99%) | 1 sairaudessa |
| PRRT2proline rich transmembrane protein 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Hyvin usein (80–99%) | 1 sairaudessa |
| RAB39BRAB39B, member RAS oncogene family | Hyvin usein (80–99%) | 1 sairaudessa |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Hyvin usein (80–99%) | 1 sairaudessa |
| RAI1retinoic acid induced 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RASA2RAS p21 protein activator 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| REREarginine-glutamic acid dipeptide repeats | Hyvin usein (80–99%) | 1 sairaudessa |
| RFC2replication factor C subunit 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| RIT1Ras like without CAAX 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNF216ring finger protein 216 | Hyvin usein (80–99%) | 1 sairaudessa |
| RPS6KA3ribosomal protein S6 kinase A3 | Hyvin usein (80–99%) | 1 sairaudessa |
| RRASRAS related | Hyvin usein (80–99%) | 1 sairaudessa |
| RRAS2RAS related 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SIL1SIL1 nucleotide exchange factor | Hyvin usein (80–99%) | 1 sairaudessa |
| SKISKI proto-oncogene | Hyvin usein (80–99%) | 1 sairaudessa |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| SPENspen family transcriptional repressor | Hyvin usein (80–99%) | 1 sairaudessa |
| SPRED2sprouty related EVH1 domain containing 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| STIM1stromal interaction molecule 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| STX1Asyntaxin 1A | Hyvin usein (80–99%) | 1 sairaudessa |
| TBL2transducin beta like 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| TIMM50translocase of inner mitochondrial membrane 50 | Hyvin usein (80–99%) | 1 sairaudessa |
| TMEM270transmembrane protein 270 | Hyvin usein (80–99%) | 1 sairaudessa |
| UBE4Bubiquitination factor E4B | Hyvin usein (80–99%) | 1 sairaudessa |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Hyvin usein (80–99%) | 1 sairaudessa |
| VPS13Bvacuolar protein sorting 13 homolog B | Hyvin usein (80–99%) | 1 sairaudessa |
| VPS35LVPS35 endosomal protein sorting factor like | Hyvin usein (80–99%) | 1 sairaudessa |
| VPS37DVPS37D subunit of ESCRT-I | Hyvin usein (80–99%) | 1 sairaudessa |
| WASHC5WASH complex subunit 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| ZC4H2zinc finger C4H2-type containing | Hyvin usein (80–99%) | 1 sairaudessa |
| ZDHHC9zDHHC palmitoyltransferase 9 | Hyvin usein (80–99%) | 1 sairaudessa |
| ADARadenosine deaminase RNA specific | Usein (30–79%) | 1 sairaudessa |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Usein (30–79%) | 2 sairaudessa |
| ATP13A2ATPase cation transporting 13A2 | Usein (30–79%) | 1 sairaudessa |
| BRD4bromodomain containing 4 | Usein (30–79%) | 1 sairaudessa |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Usein (30–79%) | 1 sairaudessa |
| CHMP2Bcharged multivesicular body protein 2B | Usein (30–79%) | 1 sairaudessa |
| CLN8CLN8 transmembrane ER and ERGIC protein | Usein (30–79%) | 1 sairaudessa |
| DAB1DAB adaptor protein 1 | Usein (30–79%) | 1 sairaudessa |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Usein (30–79%) | 1 sairaudessa |
| ERLIN1ER lipid raft associated 1 | Usein (30–79%) | 1 sairaudessa |
| FGFR1fibroblast growth factor receptor 1 | Usein (30–79%) | 1 sairaudessa |
| FUSFUS RNA binding protein | Usein (30–79%) | 1 sairaudessa |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Usein (30–79%) | 1 sairaudessa |
| GPC3glypican 3 | Usein (30–79%) | 1 sairaudessa |
| GPC4glypican 4 | Usein (30–79%) | 1 sairaudessa |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Usein (30–79%) | 1 sairaudessa |
| GRM1glutamate metabotropic receptor 1 | Usein (30–79%) | 1 sairaudessa |
| GRNgranulin precursor | Usein (30–79%) | 1 sairaudessa |
| HDAC8histone deacetylase 8 | Usein (30–79%) | 1 sairaudessa |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Usein (30–79%) | 1 sairaudessa |
| MAU2MAU2 sister chromatid cohesion factor | Usein (30–79%) | 1 sairaudessa |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Usein (30–79%) | 1 sairaudessa |
| MTORmechanistic target of rapamycin kinase | Usein (30–79%) | 1 sairaudessa |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Usein (30–79%) | 1 sairaudessa |
| MYH3myosin heavy chain 3 | Usein (30–79%) | 1 sairaudessa |
| NALCNsodium leak channel, non-selective | Usein (30–79%) | 1 sairaudessa |
| NECTIN1nectin cell adhesion molecule 1 | Usein (30–79%) | 1 sairaudessa |
| NIPBLNIPBL cohesin loading factor | Usein (30–79%) | 1 sairaudessa |
| NUP54nucleoporin 54 | Usein (30–79%) | 1 sairaudessa |
| NUP62nucleoporin 62 | Usein (30–79%) | 1 sairaudessa |
| OCA2OCA2 melanosomal transmembrane protein | Usein (30–79%) | 1 sairaudessa |
| OPHN1oligophrenin 1 | Usein (30–79%) | 1 sairaudessa |
| PAX6paired box 6 | Usein (30–79%) | 1 sairaudessa |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Usein (30–79%) | 1 sairaudessa |
| PLP1proteolipid protein 1 | Usein (30–79%) | 2 sairaudessa |
| PSEN1presenilin 1 | Usein (30–79%) | 1 sairaudessa |
| RAD21RAD21 cohesin complex component | Usein (30–79%) | 1 sairaudessa |
| SAMD9Lsterile alpha motif domain containing 9 like | Usein (30–79%) | 1 sairaudessa |
| SIGMAR1sigma receptor chaperone 1 | Usein (30–79%) | 1 sairaudessa |
| SMC1Astructural maintenance of chromosomes 1A | Usein (30–79%) | 1 sairaudessa |
| SMC3structural maintenance of chromosomes 3 | Usein (30–79%) | 1 sairaudessa |
| SORDsorbitol dehydrogenase | Usein (30–79%) | 1 sairaudessa |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Usein (30–79%) | 1 sairaudessa |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Usein (30–79%) | 1 sairaudessa |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Usein (30–79%) | 1 sairaudessa |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Usein (30–79%) | 1 sairaudessa |
| TARDBPTAR DNA binding protein | Usein (30–79%) | 1 sairaudessa |
| TBK1TANK binding kinase 1 | Usein (30–79%) | 1 sairaudessa |
| TBX1T-box transcription factor 1 | Usein (30–79%) | 1 sairaudessa |
| TFAP2Atranscription factor AP-2 alpha | Usein (30–79%) | 1 sairaudessa |
| TICAM1TIR domain containing adaptor molecule 1 | Usein (30–79%) | 1 sairaudessa |
| TLR3toll like receptor 3 | Usein (30–79%) | 1 sairaudessa |
| TMEM106Btransmembrane protein 106B | Usein (30–79%) | 1 sairaudessa |
| TRAF3TNF receptor associated factor 3 | Usein (30–79%) | 1 sairaudessa |
| TRANK1tetratricopeptide repeat and ankyrin repeat containing 1 | Usein (30–79%) | 1 sairaudessa |
| TREM2triggering receptor expressed on myeloid cells 2 | Usein (30–79%) | 3 sairaudessa |
| TRMT2BtRNA methyltransferase 2B | Usein (30–79%) | 1 sairaudessa |
| TTPAalpha tocopherol transfer protein | Usein (30–79%) | 1 sairaudessa |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Usein (30–79%) | 2 sairaudessa |
| UBE3Aubiquitin protein ligase E3A | Usein (30–79%) | 3 sairaudessa |
| UBQLN2ubiquilin 2 | Usein (30–79%) | 1 sairaudessa |
| UNC93B1unc-93B1 regulator of TLR signaling | Usein (30–79%) | 1 sairaudessa |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Usein (30–79%) | 2 sairaudessa |
| ABCD1ATP binding cassette subfamily D member 1 | Joskus (5–29%) | 1 sairaudessa |
| ARL6ARF like GTPase 6 | Joskus (5–29%) | 2 sairaudessa |
| BBIP1BBSome interacting protein 1 | Joskus (5–29%) | 1 sairaudessa |
| BBS1Bardet-Biedl syndrome 1 | Joskus (5–29%) | 2 sairaudessa |
| BBS10Bardet-Biedl syndrome 10 | Joskus (5–29%) | 1 sairaudessa |
| BBS12Bardet-Biedl syndrome 12 | Joskus (5–29%) | 1 sairaudessa |
| BBS2Bardet-Biedl syndrome 2 | Joskus (5–29%) | 1 sairaudessa |
| BBS4Bardet-Biedl syndrome 4 | Joskus (5–29%) | 1 sairaudessa |
| BBS5Bardet-Biedl syndrome 5 | Joskus (5–29%) | 1 sairaudessa |
| BBS7Bardet-Biedl syndrome 7 | Joskus (5–29%) | 1 sairaudessa |
| BBS9Bardet-Biedl syndrome 9 | Joskus (5–29%) | 1 sairaudessa |
| BCORBCL6 corepressor | Joskus (5–29%) | 1 sairaudessa |
| BMPR1Abone morphogenetic protein receptor type 1A | Joskus (5–29%) | 1 sairaudessa |
| BRCA2BRCA2 DNA repair associated | Joskus (5–29%) | 1 sairaudessa |
| CEP19centrosomal protein 19 | Joskus (5–29%) | 1 sairaudessa |
| CEP290centrosomal protein 290 | Joskus (5–29%) | 1 sairaudessa |
| CFAP418cilia and flagella associated protein 418 | Joskus (5–29%) | 1 sairaudessa |
| CHEK2checkpoint kinase 2 | Joskus (5–29%) | 1 sairaudessa |
| CXCR4C-X-C motif chemokine receptor 4 | Joskus (5–29%) | 1 sairaudessa |
| EPCAMepithelial cell adhesion molecule | Joskus (5–29%) | 1 sairaudessa |
| FLGfilaggrin | Joskus (5–29%) | 1 sairaudessa |
| FOXI1forkhead box I1 | Joskus (5–29%) | 1 sairaudessa |
| HLA-Bmajor histocompatibility complex, class I, B | Joskus (5–29%) | 1 sairaudessa |
| IFT172intraflagellar transport 172 | Joskus (5–29%) | 1 sairaudessa |
| IFT27intraflagellar transport 27 | Joskus (5–29%) | 1 sairaudessa |
| IFT74intraflagellar transport 74 | Joskus (5–29%) | 1 sairaudessa |
| IL12Binterleukin 12B | Joskus (5–29%) | 1 sairaudessa |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Joskus (5–29%) | 1 sairaudessa |
| LPIN1lipin 1 | Joskus (5–29%) | 1 sairaudessa |
| LZTFL1leucine zipper transcription factor like 1 | Joskus (5–29%) | 1 sairaudessa |
| MKKSMKKS centrosomal shuttling protein | Joskus (5–29%) | 1 sairaudessa |
| MKS1MKS transition zone complex subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| MLH1mutL homolog 1 | Joskus (5–29%) | 1 sairaudessa |
| MLXMAX dimerization protein MLX | Joskus (5–29%) | 1 sairaudessa |
| MMACHCmetabolism of cobalamin associated C | Joskus (5–29%) | 1 sairaudessa |
| MORC2MORC family CW-type zinc finger 2 | Joskus (5–29%) | 1 sairaudessa |
| MSH2mutS homolog 2 | Joskus (5–29%) | 1 sairaudessa |
| MSH6mutS homolog 6 | Joskus (5–29%) | 1 sairaudessa |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Joskus (5–29%) | 1 sairaudessa |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Joskus (5–29%) | 1 sairaudessa |
| MUTYHmutY DNA glycosylase | Joskus (5–29%) | 1 sairaudessa |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| NPATnuclear protein, coactivator of histone transcription | Joskus (5–29%) | 1 sairaudessa |
| NPHP1nephrocystin 1 | Joskus (5–29%) | 1 sairaudessa |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Joskus (5–29%) | 1 sairaudessa |
| PANK2pantothenate kinase 2 | Joskus (5–29%) | 1 sairaudessa |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Joskus (5–29%) | 2 sairaudessa |
| PMS1PMS1 homolog 1, mismatch repair system component | Joskus (5–29%) | 1 sairaudessa |
| PMS2PMS1 homolog 2, mismatch repair system component | Joskus (5–29%) | 1 sairaudessa |
| PNKDPNKD metallo-beta-lactamase domain containing | Joskus (5–29%) | 1 sairaudessa |
| POLD1DNA polymerase delta 1, catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| POLEDNA polymerase epsilon, catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| PTENphosphatase and tensin homolog | Joskus (5–29%) | 1 sairaudessa |
| RPS20ribosomal protein S20 | Joskus (5–29%) | 1 sairaudessa |
| SCAPERS-phase cyclin A associated protein in the ER | Joskus (5–29%) | 1 sairaudessa |
| SCLT1sodium channel and clathrin linker 1 | Joskus (5–29%) | 1 sairaudessa |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Joskus (5–29%) | 1 sairaudessa |
| SEMA4Asemaphorin 4A | Joskus (5–29%) | 1 sairaudessa |
| SEPTIN9septin 9 | Joskus (5–29%) | 1 sairaudessa |
| SLC26A4solute carrier family 26 member 4 | Joskus (5–29%) | 1 sairaudessa |
| STSsteroid sulfatase | Joskus (5–29%) | 1 sairaudessa |
| STUB1STIP1 homology and U-box containing protein 1 | Joskus (5–29%) | 1 sairaudessa |
| TATtyrosine aminotransferase | Joskus (5–29%) | 1 sairaudessa |
| TBXAS1thromboxane A synthase 1 | Joskus (5–29%) | 1 sairaudessa |
| TGFB1transforming growth factor beta 1 | Joskus (5–29%) | 1 sairaudessa |
| TGFBR2transforming growth factor beta receptor 2 | Joskus (5–29%) | 1 sairaudessa |
| TRIM32tripartite motif containing 32 | Joskus (5–29%) | 1 sairaudessa |
| TTC8tetratricopeptide repeat domain 8 | Joskus (5–29%) | 1 sairaudessa |
| WDPCPWD repeat containing planar cell polarity effector | Joskus (5–29%) | 1 sairaudessa |
| AKT1AKT serine/threonine kinase 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| BAP1BRCA1 associated deubiquitinase 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| HALhistidine ammonia-lyase | Harvinainen (1–4 %) | 1 sairaudessa |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Harvinainen (1–4 %) | 1 sairaudessa |
| PDGFBplatelet derived growth factor subunit B | Harvinainen (1–4 %) | 1 sairaudessa |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SMOsmoothened, frizzled class receptor | Harvinainen (1–4 %) | 1 sairaudessa |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SUFUSUFU negative regulator of hedgehog signaling | Harvinainen (1–4 %) | 1 sairaudessa |
| TERTtelomerase reverse transcriptase | Harvinainen (1–4 %) | 1 sairaudessa |
| TRAF7TNF receptor associated factor 7 | Harvinainen (1–4 %) | 1 sairaudessa |
| CCDC28Bcoiled-coil domain containing 28B | Ei kirjattu | 1 sairaudessa |
| DNAAF4dynein axonemal assembly factor 4 | Ei kirjattu | 1 sairaudessa |
| FHfumarate hydratase | Ei kirjattu | 1 sairaudessa |
| GBA1glucosylceramidase beta 1 | Ei kirjattu | 1 sairaudessa |
| MANBAmannosidase beta | Ei kirjattu | 1 sairaudessa |
| UPB1beta-ureidopropionase 1 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Tarkemmat piirteet
- Delayed speech and language development983 geeniä
- Difficulty articulating speech601 geeniä
- Poor speech198 geeniä
- Difficulty finding words95 geeniä
- Dysgraphia54 geeniä
- Inability to speak52 geeniä
- Loss of speech46 geeniä
- Loss of articulate speech26 geeniä
- Stuttering25 geeniä
- Explosive speech16 geeniä
- Abnormal prosody15 geeniä
- Incomprehensible speech8 geeniä
- Text blindness7 geeniä
- Abnormal speech rate
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
Yksi testi. Vastauksia koko elämäksi.
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