Kenmerk
Abnormal speech pattern
An abnormality in the sound (volume) or cadence (rate) of speech.
Samenvatting
- Ook bekend als
- Abnormal speech, Abnormal vocalisation, Abnormal vocalization, Abnormality of speech or vocalization
- Lichaamssysteem
- Abnormality of the nervous system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Abnormal speech pattern voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| MN1MN1 proto-oncogene, transcriptional regulator | Altijd | In 1 aandoening |
| ABCB7ATP binding cassette subfamily B member 7 | Heel vaak (80–99%) | In 1 aandoening |
| ACOX1acyl-CoA oxidase 1 | Heel vaak (80–99%) | In 1 aandoening |
| ADNPactivity dependent neuroprotector homeobox | Heel vaak (80–99%) | In 1 aandoening |
| AGAaspartylglucosaminidase | Heel vaak (80–99%) | In 1 aandoening |
| ARG1arginase 1 | Heel vaak (80–99%) | In 1 aandoening |
| ASXL3ASXL transcriptional regulator 3 | Heel vaak (80–99%) | In 1 aandoening |
| ATMATM serine/threonine kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Heel vaak (80–99%) | In 1 aandoening |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Heel vaak (80–99%) | In 1 aandoening |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Heel vaak (80–99%) | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Heel vaak (80–99%) | In 1 aandoening |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Heel vaak (80–99%) | In 1 aandoening |
| CASZ1castor zinc finger 1 | Heel vaak (80–99%) | In 1 aandoening |
| CBLCbl proto-oncogene | Heel vaak (80–99%) | In 1 aandoening |
| CCDC22CCC complex scaffolding subunit CCDC22 | Heel vaak (80–99%) | In 1 aandoening |
| CLIP2CAP-Gly domain containing linker protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| CPT1Acarnitine palmitoyltransferase 1A | Heel vaak (80–99%) | In 1 aandoening |
| CRPPACDP-L-ribitol pyrophosphorylase A | Heel vaak (80–99%) | In 1 aandoening |
| CUL4Bcullin 4B | Heel vaak (80–99%) | In 1 aandoening |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Heel vaak (80–99%) | In 1 aandoening |
| DPYSL5dihydropyrimidinase like 5 | Heel vaak (80–99%) | In 1 aandoening |
| EIF4Heukaryotic translation initiation factor 4H | Heel vaak (80–99%) | In 1 aandoening |
| ELNelastin | Heel vaak (80–99%) | In 1 aandoening |
| ELOVL4ELOVL fatty acid elongase 4 | Heel vaak (80–99%) | In 1 aandoening |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Heel vaak (80–99%) | In 1 aandoening |
| FKRPfukutin related protein | Heel vaak (80–99%) | In 1 aandoening |
| FKTNfukutin | Heel vaak (80–99%) | In 1 aandoening |
| FMR1fragile X messenger ribonucleoprotein 1 | Heel vaak (80–99%) | In 1 aandoening |
| FOXP2forkhead box P2 | Heel vaak (80–99%) | In 2 aandoeningen |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Heel vaak (80–99%) | In 1 aandoening |
| GATA2GATA binding protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| GDF5growth differentiation factor 5 | Heel vaak (80–99%) | In 1 aandoening |
| GMPPBGDP-mannose pyrophosphorylase B | Heel vaak (80–99%) | In 1 aandoening |
| GTF2Igeneral transcription factor IIi | Heel vaak (80–99%) | In 1 aandoening |
| GTF2IRD1GTF2I repeat domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| GTF2IRD2GTF2I repeat domain containing 2 | Heel vaak (80–99%) | In 1 aandoening |
| HBA1hemoglobin subunit alpha 1 | Heel vaak (80–99%) | In 1 aandoening |
Toon nog 211 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| HBA2hemoglobin subunit alpha 2 | Heel vaak (80–99%) | In 1 aandoening |
| HSPG2heparan sulfate proteoglycan 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 4 aandoeningen |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| LIMK1LIM domain kinase 1 | Heel vaak (80–99%) | In 1 aandoening |
| LUZP1leucine zipper protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| LZTR1leucine zipper like post translational regulator 1 | Heel vaak (80–99%) | In 1 aandoening |
| MAP2K1mitogen-activated protein kinase kinase 1 | Heel vaak (80–99%) | In 1 aandoening |
| MAP2K2mitogen-activated protein kinase kinase 2 | Heel vaak (80–99%) | In 1 aandoening |
| MAPTmicrotubule associated protein tau | Heel vaak (80–99%) | In 3 aandoeningen |
| MECP2methyl-CpG binding protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| MED12mediator complex subunit 12 | Heel vaak (80–99%) | In 1 aandoening |
| METTL27methyltransferase like 27 | Heel vaak (80–99%) | In 1 aandoening |
| MMP23Bmatrix metallopeptidase 23B | Heel vaak (80–99%) | In 1 aandoening |
| MRASmuscle RAS oncogene homolog | Heel vaak (80–99%) | In 1 aandoening |
| NCF1neutrophil cytosolic factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| NEU1neuraminidase 1 | Heel vaak (80–99%) | In 1 aandoening |
| NOTCH2NLCnotch 2 N-terminal like C | Heel vaak (80–99%) | In 1 aandoening |
| NRASNRAS proto-oncogene, GTPase | Heel vaak (80–99%) | In 1 aandoening |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Heel vaak (80–99%) | In 1 aandoening |
| PDPNpodoplanin | Heel vaak (80–99%) | In 1 aandoening |
| PNPLA6patatin like domain 6, lysophospholipase | Heel vaak (80–99%) | In 1 aandoening |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Heel vaak (80–99%) | In 1 aandoening |
| POMT1protein O-mannosyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| POMT2protein O-mannosyltransferase 2 | Heel vaak (80–99%) | In 1 aandoening |
| PRDM16PR/SET domain 16 | Heel vaak (80–99%) | In 1 aandoening |
| PRKCZprotein kinase C zeta | Heel vaak (80–99%) | In 1 aandoening |
| PRRT2proline rich transmembrane protein 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Heel vaak (80–99%) | In 1 aandoening |
| RAB39BRAB39B, member RAS oncogene family | Heel vaak (80–99%) | In 1 aandoening |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Heel vaak (80–99%) | In 1 aandoening |
| RAI1retinoic acid induced 1 | Heel vaak (80–99%) | In 1 aandoening |
| RASA2RAS p21 protein activator 2 | Heel vaak (80–99%) | In 1 aandoening |
| REREarginine-glutamic acid dipeptide repeats | Heel vaak (80–99%) | In 1 aandoening |
| RFC2replication factor C subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| RIT1Ras like without CAAX 1 | Heel vaak (80–99%) | In 1 aandoening |
| RNF216ring finger protein 216 | Heel vaak (80–99%) | In 1 aandoening |
| RPS6KA3ribosomal protein S6 kinase A3 | Heel vaak (80–99%) | In 1 aandoening |
| RRASRAS related | Heel vaak (80–99%) | In 1 aandoening |
| RRAS2RAS related 2 | Heel vaak (80–99%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| SIL1SIL1 nucleotide exchange factor | Heel vaak (80–99%) | In 1 aandoening |
| SKISKI proto-oncogene | Heel vaak (80–99%) | In 1 aandoening |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| SPENspen family transcriptional repressor | Heel vaak (80–99%) | In 1 aandoening |
| SPRED2sprouty related EVH1 domain containing 2 | Heel vaak (80–99%) | In 1 aandoening |
| STIM1stromal interaction molecule 1 | Heel vaak (80–99%) | In 1 aandoening |
| STX1Asyntaxin 1A | Heel vaak (80–99%) | In 1 aandoening |
| TBL2transducin beta like 2 | Heel vaak (80–99%) | In 1 aandoening |
| TIMM50translocase of inner mitochondrial membrane 50 | Heel vaak (80–99%) | In 1 aandoening |
| TMEM270transmembrane protein 270 | Heel vaak (80–99%) | In 1 aandoening |
| UBE4Bubiquitination factor E4B | Heel vaak (80–99%) | In 1 aandoening |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Heel vaak (80–99%) | In 1 aandoening |
| VPS13Bvacuolar protein sorting 13 homolog B | Heel vaak (80–99%) | In 1 aandoening |
| VPS35LVPS35 endosomal protein sorting factor like | Heel vaak (80–99%) | In 1 aandoening |
| VPS37DVPS37D subunit of ESCRT-I | Heel vaak (80–99%) | In 1 aandoening |
| WASHC5WASH complex subunit 5 | Heel vaak (80–99%) | In 1 aandoening |
| ZC4H2zinc finger C4H2-type containing | Heel vaak (80–99%) | In 1 aandoening |
| ZDHHC9zDHHC palmitoyltransferase 9 | Heel vaak (80–99%) | In 1 aandoening |
| ADARadenosine deaminase RNA specific | Vaak (30–79%) | In 1 aandoening |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Vaak (30–79%) | In 2 aandoeningen |
| ATP13A2ATPase cation transporting 13A2 | Vaak (30–79%) | In 1 aandoening |
| BRD4bromodomain containing 4 | Vaak (30–79%) | In 1 aandoening |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Vaak (30–79%) | In 1 aandoening |
| CHMP2Bcharged multivesicular body protein 2B | Vaak (30–79%) | In 1 aandoening |
| CLN8CLN8 transmembrane ER and ERGIC protein | Vaak (30–79%) | In 1 aandoening |
| DAB1DAB adaptor protein 1 | Vaak (30–79%) | In 1 aandoening |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| ERLIN1ER lipid raft associated 1 | Vaak (30–79%) | In 1 aandoening |
| FGFR1fibroblast growth factor receptor 1 | Vaak (30–79%) | In 1 aandoening |
| FUSFUS RNA binding protein | Vaak (30–79%) | In 1 aandoening |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Vaak (30–79%) | In 1 aandoening |
| GPC3glypican 3 | Vaak (30–79%) | In 1 aandoening |
| GPC4glypican 4 | Vaak (30–79%) | In 1 aandoening |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Vaak (30–79%) | In 1 aandoening |
| GRM1glutamate metabotropic receptor 1 | Vaak (30–79%) | In 1 aandoening |
| GRNgranulin precursor | Vaak (30–79%) | In 1 aandoening |
| HDAC8histone deacetylase 8 | Vaak (30–79%) | In 1 aandoening |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Vaak (30–79%) | In 1 aandoening |
| MAU2MAU2 sister chromatid cohesion factor | Vaak (30–79%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Vaak (30–79%) | In 1 aandoening |
| MTORmechanistic target of rapamycin kinase | Vaak (30–79%) | In 1 aandoening |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Vaak (30–79%) | In 1 aandoening |
| MYH3myosin heavy chain 3 | Vaak (30–79%) | In 1 aandoening |
| NALCNsodium leak channel, non-selective | Vaak (30–79%) | In 1 aandoening |
| NECTIN1nectin cell adhesion molecule 1 | Vaak (30–79%) | In 1 aandoening |
| NIPBLNIPBL cohesin loading factor | Vaak (30–79%) | In 1 aandoening |
| NUP54nucleoporin 54 | Vaak (30–79%) | In 1 aandoening |
| NUP62nucleoporin 62 | Vaak (30–79%) | In 1 aandoening |
| OCA2OCA2 melanosomal transmembrane protein | Vaak (30–79%) | In 1 aandoening |
| OPHN1oligophrenin 1 | Vaak (30–79%) | In 1 aandoening |
| PAX6paired box 6 | Vaak (30–79%) | In 1 aandoening |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Vaak (30–79%) | In 1 aandoening |
| PLP1proteolipid protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| PSEN1presenilin 1 | Vaak (30–79%) | In 1 aandoening |
| RAD21RAD21 cohesin complex component | Vaak (30–79%) | In 1 aandoening |
| SAMD9Lsterile alpha motif domain containing 9 like | Vaak (30–79%) | In 1 aandoening |
| SIGMAR1sigma receptor chaperone 1 | Vaak (30–79%) | In 1 aandoening |
| SMC1Astructural maintenance of chromosomes 1A | Vaak (30–79%) | In 1 aandoening |
| SMC3structural maintenance of chromosomes 3 | Vaak (30–79%) | In 1 aandoening |
| SORDsorbitol dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Vaak (30–79%) | In 1 aandoening |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Vaak (30–79%) | In 1 aandoening |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Vaak (30–79%) | In 1 aandoening |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Vaak (30–79%) | In 1 aandoening |
| TARDBPTAR DNA binding protein | Vaak (30–79%) | In 1 aandoening |
| TBK1TANK binding kinase 1 | Vaak (30–79%) | In 1 aandoening |
| TBX1T-box transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| TFAP2Atranscription factor AP-2 alpha | Vaak (30–79%) | In 1 aandoening |
| TICAM1TIR domain containing adaptor molecule 1 | Vaak (30–79%) | In 1 aandoening |
| TLR3toll like receptor 3 | Vaak (30–79%) | In 1 aandoening |
| TMEM106Btransmembrane protein 106B | Vaak (30–79%) | In 1 aandoening |
| TRAF3TNF receptor associated factor 3 | Vaak (30–79%) | In 1 aandoening |
| TRANK1tetratricopeptide repeat and ankyrin repeat containing 1 | Vaak (30–79%) | In 1 aandoening |
| TREM2triggering receptor expressed on myeloid cells 2 | Vaak (30–79%) | In 3 aandoeningen |
| TRMT2BtRNA methyltransferase 2B | Vaak (30–79%) | In 1 aandoening |
| TTPAalpha tocopherol transfer protein | Vaak (30–79%) | In 1 aandoening |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Vaak (30–79%) | In 2 aandoeningen |
| UBE3Aubiquitin protein ligase E3A | Vaak (30–79%) | In 3 aandoeningen |
| UBQLN2ubiquilin 2 | Vaak (30–79%) | In 1 aandoening |
| UNC93B1unc-93B1 regulator of TLR signaling | Vaak (30–79%) | In 1 aandoening |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 2 aandoeningen |
| ABCD1ATP binding cassette subfamily D member 1 | Soms (5–29%) | In 1 aandoening |
| ARL6ARF like GTPase 6 | Soms (5–29%) | In 2 aandoeningen |
| BBIP1BBSome interacting protein 1 | Soms (5–29%) | In 1 aandoening |
| BBS1Bardet-Biedl syndrome 1 | Soms (5–29%) | In 2 aandoeningen |
| BBS10Bardet-Biedl syndrome 10 | Soms (5–29%) | In 1 aandoening |
| BBS12Bardet-Biedl syndrome 12 | Soms (5–29%) | In 1 aandoening |
| BBS2Bardet-Biedl syndrome 2 | Soms (5–29%) | In 1 aandoening |
| BBS4Bardet-Biedl syndrome 4 | Soms (5–29%) | In 1 aandoening |
| BBS5Bardet-Biedl syndrome 5 | Soms (5–29%) | In 1 aandoening |
| BBS7Bardet-Biedl syndrome 7 | Soms (5–29%) | In 1 aandoening |
| BBS9Bardet-Biedl syndrome 9 | Soms (5–29%) | In 1 aandoening |
| BCORBCL6 corepressor | Soms (5–29%) | In 1 aandoening |
| BMPR1Abone morphogenetic protein receptor type 1A | Soms (5–29%) | In 1 aandoening |
| BRCA2BRCA2 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| CEP19centrosomal protein 19 | Soms (5–29%) | In 1 aandoening |
| CEP290centrosomal protein 290 | Soms (5–29%) | In 1 aandoening |
| CFAP418cilia and flagella associated protein 418 | Soms (5–29%) | In 1 aandoening |
| CHEK2checkpoint kinase 2 | Soms (5–29%) | In 1 aandoening |
| CXCR4C-X-C motif chemokine receptor 4 | Soms (5–29%) | In 1 aandoening |
| EPCAMepithelial cell adhesion molecule | Soms (5–29%) | In 1 aandoening |
| FLGfilaggrin | Soms (5–29%) | In 1 aandoening |
| FOXI1forkhead box I1 | Soms (5–29%) | In 1 aandoening |
| HLA-Bmajor histocompatibility complex, class I, B | Soms (5–29%) | In 1 aandoening |
| IFT172intraflagellar transport 172 | Soms (5–29%) | In 1 aandoening |
| IFT27intraflagellar transport 27 | Soms (5–29%) | In 1 aandoening |
| IFT74intraflagellar transport 74 | Soms (5–29%) | In 1 aandoening |
| IL12Binterleukin 12B | Soms (5–29%) | In 1 aandoening |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Soms (5–29%) | In 1 aandoening |
| LPIN1lipin 1 | Soms (5–29%) | In 1 aandoening |
| LZTFL1leucine zipper transcription factor like 1 | Soms (5–29%) | In 1 aandoening |
| MKKSMKKS centrosomal shuttling protein | Soms (5–29%) | In 1 aandoening |
| MKS1MKS transition zone complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| MLH1mutL homolog 1 | Soms (5–29%) | In 1 aandoening |
| MLXMAX dimerization protein MLX | Soms (5–29%) | In 1 aandoening |
| MMACHCmetabolism of cobalamin associated C | Soms (5–29%) | In 1 aandoening |
| MORC2MORC family CW-type zinc finger 2 | Soms (5–29%) | In 1 aandoening |
| MSH2mutS homolog 2 | Soms (5–29%) | In 1 aandoening |
| MSH6mutS homolog 6 | Soms (5–29%) | In 1 aandoening |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Soms (5–29%) | In 1 aandoening |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Soms (5–29%) | In 1 aandoening |
| MUTYHmutY DNA glycosylase | Soms (5–29%) | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NPATnuclear protein, coactivator of histone transcription | Soms (5–29%) | In 1 aandoening |
| NPHP1nephrocystin 1 | Soms (5–29%) | In 1 aandoening |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Soms (5–29%) | In 1 aandoening |
| PANK2pantothenate kinase 2 | Soms (5–29%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Soms (5–29%) | In 2 aandoeningen |
| PMS1PMS1 homolog 1, mismatch repair system component | Soms (5–29%) | In 1 aandoening |
| PMS2PMS1 homolog 2, mismatch repair system component | Soms (5–29%) | In 1 aandoening |
| PNKDPNKD metallo-beta-lactamase domain containing | Soms (5–29%) | In 1 aandoening |
| POLD1DNA polymerase delta 1, catalytic subunit | Soms (5–29%) | In 1 aandoening |
| POLEDNA polymerase epsilon, catalytic subunit | Soms (5–29%) | In 1 aandoening |
| PTENphosphatase and tensin homolog | Soms (5–29%) | In 1 aandoening |
| RPS20ribosomal protein S20 | Soms (5–29%) | In 1 aandoening |
| SCAPERS-phase cyclin A associated protein in the ER | Soms (5–29%) | In 1 aandoening |
| SCLT1sodium channel and clathrin linker 1 | Soms (5–29%) | In 1 aandoening |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Soms (5–29%) | In 1 aandoening |
| SEMA4Asemaphorin 4A | Soms (5–29%) | In 1 aandoening |
| SEPTIN9septin 9 | Soms (5–29%) | In 1 aandoening |
| SLC26A4solute carrier family 26 member 4 | Soms (5–29%) | In 1 aandoening |
| STSsteroid sulfatase | Soms (5–29%) | In 1 aandoening |
| STUB1STIP1 homology and U-box containing protein 1 | Soms (5–29%) | In 1 aandoening |
| TATtyrosine aminotransferase | Soms (5–29%) | In 1 aandoening |
| TBXAS1thromboxane A synthase 1 | Soms (5–29%) | In 1 aandoening |
| TGFB1transforming growth factor beta 1 | Soms (5–29%) | In 1 aandoening |
| TGFBR2transforming growth factor beta receptor 2 | Soms (5–29%) | In 1 aandoening |
| TRIM32tripartite motif containing 32 | Soms (5–29%) | In 1 aandoening |
| TTC8tetratricopeptide repeat domain 8 | Soms (5–29%) | In 1 aandoening |
| WDPCPWD repeat containing planar cell polarity effector | Soms (5–29%) | In 1 aandoening |
| AKT1AKT serine/threonine kinase 1 | Zelden (1–4%) | In 1 aandoening |
| BAP1BRCA1 associated deubiquitinase 1 | Zelden (1–4%) | In 1 aandoening |
| HALhistidine ammonia-lyase | Zelden (1–4%) | In 1 aandoening |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Zelden (1–4%) | In 1 aandoening |
| PDGFBplatelet derived growth factor subunit B | Zelden (1–4%) | In 1 aandoening |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Zelden (1–4%) | In 1 aandoening |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Zelden (1–4%) | In 1 aandoening |
| SMOsmoothened, frizzled class receptor | Zelden (1–4%) | In 1 aandoening |
| SPTBN1spectrin beta, non-erythrocytic 1 | Zelden (1–4%) | In 1 aandoening |
| SUFUSUFU negative regulator of hedgehog signaling | Zelden (1–4%) | In 1 aandoening |
| TERTtelomerase reverse transcriptase | Zelden (1–4%) | In 1 aandoening |
| TRAF7TNF receptor associated factor 7 | Zelden (1–4%) | In 1 aandoening |
| CCDC28Bcoiled-coil domain containing 28B | Niet vastgelegd | In 1 aandoening |
| DNAAF4dynein axonemal assembly factor 4 | Niet vastgelegd | In 1 aandoening |
| FHfumarate hydratase | Niet vastgelegd | In 1 aandoening |
| GBA1glucosylceramidase beta 1 | Niet vastgelegd | In 1 aandoening |
| MANBAmannosidase beta | Niet vastgelegd | In 1 aandoening |
| UPB1beta-ureidopropionase 1 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
- Delayed speech and language development983 genen
- Difficulty articulating speech601 genen
- Poor speech198 genen
- Difficulty finding words95 genen
- Dysgraphia54 genen
- Inability to speak52 genen
- Loss of speech46 genen
- Loss of articulate speech26 genen
- Stuttering25 genen
- Explosive speech16 genen
- Abnormal prosody15 genen
- Incomprehensible speech8 genen
- Text blindness7 genen
- Abnormal speech rate
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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