Merkmal
Abnormal speech pattern
An abnormality in the sound (volume) or cadence (rate) of speech.
Zusammenfassung
- Auch genannt
- Abnormal speech, Abnormal vocalisation, Abnormal vocalization, Abnormality of speech or vocalization
- Körpersystem
- Abnormality of the nervous system
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Meinen Genome Test bestellen152 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
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- Cornelia de Lange SyndromeReads 6 of these genesBRD4HDAC8NIPBLRAD21SMC1ASMC3About this report →
- Inherited Neurodegenerative DisordersReads 45 of these genesABCB7ATMCACNA1AELOVL4FMR1MAPTAbout this report →
Show 148 more reports
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- Congenital Muscular DystrophiesReads 9 of these genesB3GALNT2CRPPAFKRPFKTNGMPPBLARGE1About this report →
- NeurofibromatosisReads 3 of these genesLZTR1NF2SMARCB1About this report →
- Cowden Syndrome (PTEN hamartoma tumour syndrome)Reads 2 of these genesPTENAKT1About this report →
- Tubular Aggregate MyopathyReads 2 of these genesORAI1STIM1About this report →
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- Rhabdoid Tumour and SWI/SNF Tumour PredispositionReads 2 of these genesSMARCB1SMARCE1About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 3 of these genesAGANEU1MANBAAbout this report →
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- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 6 of these genesCACNA1AELOVL4DAB1GRM1ITPR1STUB1About this report →
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)Reads 2 of these genesTREM2TYROBPAbout this report →
- Inherited Predisposition to Myeloid Blood CancersReads 2 of these genesGATA2SAMD9LAbout this report →
- 22q11.2 Deletion SyndromeReads 1 of these genesTBX1About this report →
- 3-Methylglutaconic Aciduria Type 9 (TIMM50)Reads 1 of these genesTIMM50About this report →
- Angelman SyndromeReads 1 of these genesUBE3AAbout this report →
- Ataxia-TelangiectasiaReads 1 of these genesATMAbout this report →
- ATP1A2-Related Fetal Akinesia with PolymicrogyriaReads 1 of these genesATP1A2About this report →
- BAP1 Tumour Predisposition SyndromeReads 1 of these genesBAP1About this report →
- Beta-ureidopropionase deficiencyReads 1 of these genesUPB1About this report →
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- CEP290-Related CiliopathyReads 1 of these genesCEP290About this report →
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- Dyschromatosis Symmetrica HereditariaReads 1 of these genesADARAbout this report →
- Dyssegmental Dysplasia, Silverman-Handmaker TypeReads 1 of these genesHSPG2About this report →
- FOXP2-Related Speech and Language DisorderReads 1 of these genesFOXP2About this report →
- Fragile X SyndromeReads 1 of these genesFMR1About this report →
- Gaucher DiseaseReads 1 of these genesGBA1About this report →
- Ghosal Haematodiaphyseal DysplasiaReads 1 of these genesTBXAS1About this report →
- Hereditary Leiomyomatosis and Renal Cell CancerReads 1 of these genesFHAbout this report →
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- LPIN1-Related Recurrent RhabdomyolysisReads 1 of these genesLPIN1About this report →
- MDPL SyndromeReads 1 of these genesPOLD1About this report →
- Mitchell SyndromeReads 1 of these genesACOX1About this report →
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- PIK3R1-Related DisordersReads 1 of these genesPIK3R1About this report →
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- Limb-Girdle Muscular DystrophyReads 5 of these genesFKRPFKTNGMPPBPOMGNT1TRIM32About this report →
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- Rare Hereditary Peripheral NeuropathiesReads 12 of these genesMT-ATP6SIGMAR1SORDSPG11SPTLC1SPTLC2About this report →
- Other Inherited LeukodystrophiesReads 7 of these genesADARDARS2PLP1TMEM106BTREM2TYROBPAbout this report →
- Parkinson DiseaseReads 3 of these genesMAPTATP13A2GBA1About this report →
- DNA Repair DiseaseReads 5 of these genesBRCA2MLH1MSH2MSH6PMS2About this report →
- Inherited Predisposition to Acute Myeloid LeukaemiaReads 2 of these genesGATA2TERTAbout this report →
- PolycythemiaReads 2 of these genesHBA1HBA2About this report →
- Activated PI3K-Delta Syndrome (APDS)Reads 1 of these genesPIK3R1About this report →
- Hereditary Breast and Ovarian Cancer (BRCA1/2)Reads 1 of these genesBRCA2About this report →
- Hereditary Gingival FibromatosisReads 1 of these genesSOS1About this report →
- Hereditary Mixed Polyposis SyndromeReads 1 of these genesBMPR1AAbout this report →
- Juvenile Polyposis SyndromeReads 1 of these genesBMPR1AAbout this report →
- Nevoid Basal Cell Carcinoma (Gorlin) SyndromeReads 1 of these genesSUFUAbout this report →
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- Coffin-Siris SyndromeReads 2 of these genesSMARCB1SMARCE1About this report →
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- Multiple Synostoses Syndrome (FGF9)Reads 1 of these genesGDF5About this report →
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- Sclerosing Bone Dysplasias (High Bone Mass)Reads 1 of these genesTGFB1About this report →
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- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 2 of these genesSPTLC1SPTLC2About this report →
- Chronic Granulomatous DiseaseReads 1 of these genesNCF1About this report →
- Inflammatory Bowel Diseases (IBD)Reads 1 of these genesTGFB1About this report →
- Loeys-Dietz SyndromeReads 1 of these genesTGFBR2About this report →
- Peroxisomal Enzyme Disorders & Refsum DiseaseReads 1 of these genesACOX1About this report →
- Renal Tubular AcidosisReads 1 of these genesFOXI1About this report →
- Systemic Lupus ErythematosusReads 1 of these genesUNC93B1About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 2 of these genesPLP1TMEM106BAbout this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesKRASAbout this report →
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- Aicardi-Goutieres SyndromeReads 1 of these genesADARAbout this report →
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- Oculocutaneous AlbinismReads 1 of these genesOCA2About this report →
- Inherited ThrombocytopeniasReads 2 of these genesSTIM1GNEAbout this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 1 of these genesCACNA1AAbout this report →
- Familial Pulmonary FibrosisReads 1 of these genesTERTAbout this report →
- Agammaglobulinaemia (XLA and Autosomal Forms)Reads 1 of these genesPIK3R1About this report →
- Meckel SyndromeReads 1 of these genesMKS1About this report →
- Mendelian Susceptibility to Mycobacterial Disease (MSMD)Reads 1 of these genesIL12BAbout this report →
- Familial HypomagnesemiaReads 1 of these genesKCNJ10About this report →
- Severe Congenital NeutropeniaReads 1 of these genesCXCR4About this report →
- Urea Cycle DisorderReads 1 of these genesARG1About this report →
- Hypogonadotropic HypogonadismReads 2 of these genesRNF216FGFR1About this report →
- Aortic AneurysmReads 1 of these genesTGFBR2About this report →
- Congenital Diarrhoeas & EnteropathiesReads 1 of these genesEPCAMAbout this report →
- Inherited Congenital Heart DefectsReads 1 of these genesELNAbout this report →
- Female InfertilityReads 2 of these genesATMFMR1About this report →
- Methylmalonic & Propionic AcidemiaReads 1 of these genesMMACHCAbout this report →
- Cutis LaxaReads 1 of these genesELNAbout this report →
- Fatty Acid Oxidation & Carnitine Cycle DisordersReads 1 of these genesCPT1AAbout this report →
- Ectodermal DysplasiasReads 1 of these genesNECTIN1About this report →
- Fanconi AnemiaReads 1 of these genesBRCA2About this report →
- Distal MyopathiesReads 1 of these genesGNEAbout this report →
- Congenital HypothyroidismReads 1 of these genesSLC26A4About this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 1 of these genesCEP290About this report →
- Dyskeratosis CongenitaReads 1 of these genesTERTAbout this report →
- Syndromic Complex Neurodevelopmental DisorderReads 1 of these genesTRAF7About this report →
- Inherited IchthyosesReads 1 of these genesSTSAbout this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 1 of these genesSMOAbout this report →
- Congenital Myasthenic SyndromeReads 1 of these genesGMPPBAbout this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesBCORAbout this report →
- Spinal Muscular AtrophyReads 1 of these genesSIGMAR1About this report →
- Diabetes MellitusReads 1 of these genesPAX6About this report →
- Thyroid CancerReads 1 of these genesSLC26A4About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesADARAbout this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesTATAbout this report →
- Male InfertilityReads 1 of these genesFKBP6About this report →
- Primary Ciliary DyskinesiaReads 1 of these genesDNAAF4About this report →
- Leigh SyndromeReads 1 of these genesMT-ATP6About this report →
- Hearing Loss and DeafnessReads 1 of these genesSLC26A4About this report →
- Primary Mitochondrial DiseaseReads 1 of these genesDNAJC30About this report →
Lesen Sie die Gene aus, die mit Abnormal speech pattern zusammenhängen, und den Rest Ihres Genoms, mit einem einzigen Test.
Ab 449 $Kostenloser Versand · Ergebnisse in 6–8 Wochen
Meinen Genome Test bestellen251 Gene mit Abnormal speech pattern verknüpft
Veränderungen in diesen Genen verursachen seltene Erkrankungen, bei denen Abnormal speech pattern auftritt. Die meisten Menschen mit diesem Merkmal haben keine dieser Erkrankungen, und ein Gen auf dieser Liste sagt nichts über das eigene Genom einer Person aus.
| Gen | Wie häufig es auftritt | Erkrankungen |
|---|---|---|
| MN1MN1 proto-oncogene, transcriptional regulator | Immer | In 1 Erkrankung |
| ABCB7ATP binding cassette subfamily B member 7 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| ACOX1acyl-CoA oxidase 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| ADNPactivity dependent neuroprotector homeobox | Sehr häufig (80–99 %) | In 1 Erkrankung |
| AGAaspartylglucosaminidase | Sehr häufig (80–99 %) | In 1 Erkrankung |
| ARG1arginase 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| ASXL3ASXL transcriptional regulator 3 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| ATMATM serine/threonine kinase | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Sehr häufig (80–99 %) | In 1 Erkrankung |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Sehr häufig (80–99 %) | In 1 Erkrankung |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Sehr häufig (80–99 %) | In 1 Erkrankung |
| CASZ1castor zinc finger 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| CBLCbl proto-oncogene | Sehr häufig (80–99 %) | In 1 Erkrankung |
| CCDC22CCC complex scaffolding subunit CCDC22 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| CLIP2CAP-Gly domain containing linker protein 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| CPT1Acarnitine palmitoyltransferase 1A | Sehr häufig (80–99 %) | In 1 Erkrankung |
| CRPPACDP-L-ribitol pyrophosphorylase A | Sehr häufig (80–99 %) | In 1 Erkrankung |
| CUL4Bcullin 4B | Sehr häufig (80–99 %) | In 1 Erkrankung |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Sehr häufig (80–99 %) | In 1 Erkrankung |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| DPYSL5dihydropyrimidinase like 5 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| EIF4Heukaryotic translation initiation factor 4H | Sehr häufig (80–99 %) | In 1 Erkrankung |
| ELNelastin | Sehr häufig (80–99 %) | In 1 Erkrankung |
| ELOVL4ELOVL fatty acid elongase 4 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Sehr häufig (80–99 %) | In 1 Erkrankung |
| FKRPfukutin related protein | Sehr häufig (80–99 %) | In 1 Erkrankung |
| FKTNfukutin | Sehr häufig (80–99 %) | In 1 Erkrankung |
| FMR1fragile X messenger ribonucleoprotein 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| FOXP2forkhead box P2 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Sehr häufig (80–99 %) | In 1 Erkrankung |
| GATA2GATA binding protein 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| GDF5growth differentiation factor 5 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| GMPPBGDP-mannose pyrophosphorylase B | Sehr häufig (80–99 %) | In 1 Erkrankung |
| GTF2Igeneral transcription factor IIi | Sehr häufig (80–99 %) | In 1 Erkrankung |
| GTF2IRD1GTF2I repeat domain containing 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| GTF2IRD2GTF2I repeat domain containing 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| HBA1hemoglobin subunit alpha 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
211 weitere Gene anzeigen
| Gen | Wie häufig es auftritt | Erkrankungen |
|---|---|---|
| HBA2hemoglobin subunit alpha 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| HSPG2heparan sulfate proteoglycan 2 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| KRASKRas proto-oncogene, GTPase | Sehr häufig (80–99 %) | In 4 Erkrankungen |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| LIMK1LIM domain kinase 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| LUZP1leucine zipper protein 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| LZTR1leucine zipper like post translational regulator 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| MAP2K1mitogen-activated protein kinase kinase 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| MAP2K2mitogen-activated protein kinase kinase 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| MAPTmicrotubule associated protein tau | Sehr häufig (80–99 %) | In 3 Erkrankungen |
| MECP2methyl-CpG binding protein 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| MED12mediator complex subunit 12 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| METTL27methyltransferase like 27 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| MMP23Bmatrix metallopeptidase 23B | Sehr häufig (80–99 %) | In 1 Erkrankung |
| MRASmuscle RAS oncogene homolog | Sehr häufig (80–99 %) | In 1 Erkrankung |
| NCF1neutrophil cytosolic factor 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| NEU1neuraminidase 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| NOTCH2NLCnotch 2 N-terminal like C | Sehr häufig (80–99 %) | In 1 Erkrankung |
| NRASNRAS proto-oncogene, GTPase | Sehr häufig (80–99 %) | In 1 Erkrankung |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PDPNpodoplanin | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PNPLA6patatin like domain 6, lysophospholipase | Sehr häufig (80–99 %) | In 1 Erkrankung |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Sehr häufig (80–99 %) | In 1 Erkrankung |
| POMT1protein O-mannosyltransferase 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| POMT2protein O-mannosyltransferase 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PRDM16PR/SET domain 16 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PRKCZprotein kinase C zeta | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PRRT2proline rich transmembrane protein 2 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| RAB39BRAB39B, member RAS oncogene family | Sehr häufig (80–99 %) | In 1 Erkrankung |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Sehr häufig (80–99 %) | In 1 Erkrankung |
| RAI1retinoic acid induced 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| RASA2RAS p21 protein activator 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| REREarginine-glutamic acid dipeptide repeats | Sehr häufig (80–99 %) | In 1 Erkrankung |
| RFC2replication factor C subunit 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| RIT1Ras like without CAAX 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| RNF216ring finger protein 216 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| RPS6KA3ribosomal protein S6 kinase A3 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| RRASRAS related | Sehr häufig (80–99 %) | In 1 Erkrankung |
| RRAS2RAS related 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| SIL1SIL1 nucleotide exchange factor | Sehr häufig (80–99 %) | In 1 Erkrankung |
| SKISKI proto-oncogene | Sehr häufig (80–99 %) | In 1 Erkrankung |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| SPENspen family transcriptional repressor | Sehr häufig (80–99 %) | In 1 Erkrankung |
| SPRED2sprouty related EVH1 domain containing 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| STIM1stromal interaction molecule 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| STX1Asyntaxin 1A | Sehr häufig (80–99 %) | In 1 Erkrankung |
| TBL2transducin beta like 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| TIMM50translocase of inner mitochondrial membrane 50 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| TMEM270transmembrane protein 270 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| UBE4Bubiquitination factor E4B | Sehr häufig (80–99 %) | In 1 Erkrankung |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Sehr häufig (80–99 %) | In 1 Erkrankung |
| VPS13Bvacuolar protein sorting 13 homolog B | Sehr häufig (80–99 %) | In 1 Erkrankung |
| VPS35LVPS35 endosomal protein sorting factor like | Sehr häufig (80–99 %) | In 1 Erkrankung |
| VPS37DVPS37D subunit of ESCRT-I | Sehr häufig (80–99 %) | In 1 Erkrankung |
| WASHC5WASH complex subunit 5 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| ZC4H2zinc finger C4H2-type containing | Sehr häufig (80–99 %) | In 1 Erkrankung |
| ZDHHC9zDHHC palmitoyltransferase 9 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| ADARadenosine deaminase RNA specific | Häufig (30–79 %) | In 1 Erkrankung |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Häufig (30–79 %) | In 2 Erkrankungen |
| ATP13A2ATPase cation transporting 13A2 | Häufig (30–79 %) | In 1 Erkrankung |
| BRD4bromodomain containing 4 | Häufig (30–79 %) | In 1 Erkrankung |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Häufig (30–79 %) | In 1 Erkrankung |
| CHMP2Bcharged multivesicular body protein 2B | Häufig (30–79 %) | In 1 Erkrankung |
| CLN8CLN8 transmembrane ER and ERGIC protein | Häufig (30–79 %) | In 1 Erkrankung |
| DAB1DAB adaptor protein 1 | Häufig (30–79 %) | In 1 Erkrankung |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Häufig (30–79 %) | In 1 Erkrankung |
| ERLIN1ER lipid raft associated 1 | Häufig (30–79 %) | In 1 Erkrankung |
| FGFR1fibroblast growth factor receptor 1 | Häufig (30–79 %) | In 1 Erkrankung |
| FUSFUS RNA binding protein | Häufig (30–79 %) | In 1 Erkrankung |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Häufig (30–79 %) | In 1 Erkrankung |
| GPC3glypican 3 | Häufig (30–79 %) | In 1 Erkrankung |
| GPC4glypican 4 | Häufig (30–79 %) | In 1 Erkrankung |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Häufig (30–79 %) | In 1 Erkrankung |
| GRM1glutamate metabotropic receptor 1 | Häufig (30–79 %) | In 1 Erkrankung |
| GRNgranulin precursor | Häufig (30–79 %) | In 1 Erkrankung |
| HDAC8histone deacetylase 8 | Häufig (30–79 %) | In 1 Erkrankung |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Häufig (30–79 %) | In 1 Erkrankung |
| MAU2MAU2 sister chromatid cohesion factor | Häufig (30–79 %) | In 1 Erkrankung |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Häufig (30–79 %) | In 1 Erkrankung |
| MTORmechanistic target of rapamycin kinase | Häufig (30–79 %) | In 1 Erkrankung |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Häufig (30–79 %) | In 1 Erkrankung |
| MYH3myosin heavy chain 3 | Häufig (30–79 %) | In 1 Erkrankung |
| NALCNsodium leak channel, non-selective | Häufig (30–79 %) | In 1 Erkrankung |
| NECTIN1nectin cell adhesion molecule 1 | Häufig (30–79 %) | In 1 Erkrankung |
| NIPBLNIPBL cohesin loading factor | Häufig (30–79 %) | In 1 Erkrankung |
| NUP54nucleoporin 54 | Häufig (30–79 %) | In 1 Erkrankung |
| NUP62nucleoporin 62 | Häufig (30–79 %) | In 1 Erkrankung |
| OCA2OCA2 melanosomal transmembrane protein | Häufig (30–79 %) | In 1 Erkrankung |
| OPHN1oligophrenin 1 | Häufig (30–79 %) | In 1 Erkrankung |
| PAX6paired box 6 | Häufig (30–79 %) | In 1 Erkrankung |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Häufig (30–79 %) | In 1 Erkrankung |
| PLP1proteolipid protein 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| PSEN1presenilin 1 | Häufig (30–79 %) | In 1 Erkrankung |
| RAD21RAD21 cohesin complex component | Häufig (30–79 %) | In 1 Erkrankung |
| SAMD9Lsterile alpha motif domain containing 9 like | Häufig (30–79 %) | In 1 Erkrankung |
| SIGMAR1sigma receptor chaperone 1 | Häufig (30–79 %) | In 1 Erkrankung |
| SMC1Astructural maintenance of chromosomes 1A | Häufig (30–79 %) | In 1 Erkrankung |
| SMC3structural maintenance of chromosomes 3 | Häufig (30–79 %) | In 1 Erkrankung |
| SORDsorbitol dehydrogenase | Häufig (30–79 %) | In 1 Erkrankung |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Häufig (30–79 %) | In 1 Erkrankung |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Häufig (30–79 %) | In 1 Erkrankung |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Häufig (30–79 %) | In 1 Erkrankung |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Häufig (30–79 %) | In 1 Erkrankung |
| TARDBPTAR DNA binding protein | Häufig (30–79 %) | In 1 Erkrankung |
| TBK1TANK binding kinase 1 | Häufig (30–79 %) | In 1 Erkrankung |
| TBX1T-box transcription factor 1 | Häufig (30–79 %) | In 1 Erkrankung |
| TFAP2Atranscription factor AP-2 alpha | Häufig (30–79 %) | In 1 Erkrankung |
| TICAM1TIR domain containing adaptor molecule 1 | Häufig (30–79 %) | In 1 Erkrankung |
| TLR3toll like receptor 3 | Häufig (30–79 %) | In 1 Erkrankung |
| TMEM106Btransmembrane protein 106B | Häufig (30–79 %) | In 1 Erkrankung |
| TRAF3TNF receptor associated factor 3 | Häufig (30–79 %) | In 1 Erkrankung |
| TRANK1tetratricopeptide repeat and ankyrin repeat containing 1 | Häufig (30–79 %) | In 1 Erkrankung |
| TREM2triggering receptor expressed on myeloid cells 2 | Häufig (30–79 %) | In 3 Erkrankungen |
| TRMT2BtRNA methyltransferase 2B | Häufig (30–79 %) | In 1 Erkrankung |
| TTPAalpha tocopherol transfer protein | Häufig (30–79 %) | In 1 Erkrankung |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Häufig (30–79 %) | In 2 Erkrankungen |
| UBE3Aubiquitin protein ligase E3A | Häufig (30–79 %) | In 3 Erkrankungen |
| UBQLN2ubiquilin 2 | Häufig (30–79 %) | In 1 Erkrankung |
| UNC93B1unc-93B1 regulator of TLR signaling | Häufig (30–79 %) | In 1 Erkrankung |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Häufig (30–79 %) | In 2 Erkrankungen |
| ABCD1ATP binding cassette subfamily D member 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| ARL6ARF like GTPase 6 | Manchmal (5–29 %) | In 2 Erkrankungen |
| BBIP1BBSome interacting protein 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| BBS1Bardet-Biedl syndrome 1 | Manchmal (5–29 %) | In 2 Erkrankungen |
| BBS10Bardet-Biedl syndrome 10 | Manchmal (5–29 %) | In 1 Erkrankung |
| BBS12Bardet-Biedl syndrome 12 | Manchmal (5–29 %) | In 1 Erkrankung |
| BBS2Bardet-Biedl syndrome 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| BBS4Bardet-Biedl syndrome 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| BBS5Bardet-Biedl syndrome 5 | Manchmal (5–29 %) | In 1 Erkrankung |
| BBS7Bardet-Biedl syndrome 7 | Manchmal (5–29 %) | In 1 Erkrankung |
| BBS9Bardet-Biedl syndrome 9 | Manchmal (5–29 %) | In 1 Erkrankung |
| BCORBCL6 corepressor | Manchmal (5–29 %) | In 1 Erkrankung |
| BMPR1Abone morphogenetic protein receptor type 1A | Manchmal (5–29 %) | In 1 Erkrankung |
| BRCA2BRCA2 DNA repair associated | Manchmal (5–29 %) | In 1 Erkrankung |
| CEP19centrosomal protein 19 | Manchmal (5–29 %) | In 1 Erkrankung |
| CEP290centrosomal protein 290 | Manchmal (5–29 %) | In 1 Erkrankung |
| CFAP418cilia and flagella associated protein 418 | Manchmal (5–29 %) | In 1 Erkrankung |
| CHEK2checkpoint kinase 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| CXCR4C-X-C motif chemokine receptor 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| EPCAMepithelial cell adhesion molecule | Manchmal (5–29 %) | In 1 Erkrankung |
| FLGfilaggrin | Manchmal (5–29 %) | In 1 Erkrankung |
| FOXI1forkhead box I1 | Manchmal (5–29 %) | In 1 Erkrankung |
| HLA-Bmajor histocompatibility complex, class I, B | Manchmal (5–29 %) | In 1 Erkrankung |
| IFT172intraflagellar transport 172 | Manchmal (5–29 %) | In 1 Erkrankung |
| IFT27intraflagellar transport 27 | Manchmal (5–29 %) | In 1 Erkrankung |
| IFT74intraflagellar transport 74 | Manchmal (5–29 %) | In 1 Erkrankung |
| IL12Binterleukin 12B | Manchmal (5–29 %) | In 1 Erkrankung |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Manchmal (5–29 %) | In 1 Erkrankung |
| LPIN1lipin 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| LZTFL1leucine zipper transcription factor like 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| MKKSMKKS centrosomal shuttling protein | Manchmal (5–29 %) | In 1 Erkrankung |
| MKS1MKS transition zone complex subunit 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| MLH1mutL homolog 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| MLXMAX dimerization protein MLX | Manchmal (5–29 %) | In 1 Erkrankung |
| MMACHCmetabolism of cobalamin associated C | Manchmal (5–29 %) | In 1 Erkrankung |
| MORC2MORC family CW-type zinc finger 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| MSH2mutS homolog 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| MSH6mutS homolog 6 | Manchmal (5–29 %) | In 1 Erkrankung |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Manchmal (5–29 %) | In 1 Erkrankung |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Manchmal (5–29 %) | In 1 Erkrankung |
| MUTYHmutY DNA glycosylase | Manchmal (5–29 %) | In 1 Erkrankung |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Manchmal (5–29 %) | In 1 Erkrankung |
| NPATnuclear protein, coactivator of histone transcription | Manchmal (5–29 %) | In 1 Erkrankung |
| NPHP1nephrocystin 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Manchmal (5–29 %) | In 1 Erkrankung |
| PANK2pantothenate kinase 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Manchmal (5–29 %) | In 2 Erkrankungen |
| PMS1PMS1 homolog 1, mismatch repair system component | Manchmal (5–29 %) | In 1 Erkrankung |
| PMS2PMS1 homolog 2, mismatch repair system component | Manchmal (5–29 %) | In 1 Erkrankung |
| PNKDPNKD metallo-beta-lactamase domain containing | Manchmal (5–29 %) | In 1 Erkrankung |
| POLD1DNA polymerase delta 1, catalytic subunit | Manchmal (5–29 %) | In 1 Erkrankung |
| POLEDNA polymerase epsilon, catalytic subunit | Manchmal (5–29 %) | In 1 Erkrankung |
| PTENphosphatase and tensin homolog | Manchmal (5–29 %) | In 1 Erkrankung |
| RPS20ribosomal protein S20 | Manchmal (5–29 %) | In 1 Erkrankung |
| SCAPERS-phase cyclin A associated protein in the ER | Manchmal (5–29 %) | In 1 Erkrankung |
| SCLT1sodium channel and clathrin linker 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Manchmal (5–29 %) | In 1 Erkrankung |
| SEMA4Asemaphorin 4A | Manchmal (5–29 %) | In 1 Erkrankung |
| SEPTIN9septin 9 | Manchmal (5–29 %) | In 1 Erkrankung |
| SLC26A4solute carrier family 26 member 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| STSsteroid sulfatase | Manchmal (5–29 %) | In 1 Erkrankung |
| STUB1STIP1 homology and U-box containing protein 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| TATtyrosine aminotransferase | Manchmal (5–29 %) | In 1 Erkrankung |
| TBXAS1thromboxane A synthase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| TGFB1transforming growth factor beta 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| TGFBR2transforming growth factor beta receptor 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| TRIM32tripartite motif containing 32 | Manchmal (5–29 %) | In 1 Erkrankung |
| TTC8tetratricopeptide repeat domain 8 | Manchmal (5–29 %) | In 1 Erkrankung |
| WDPCPWD repeat containing planar cell polarity effector | Manchmal (5–29 %) | In 1 Erkrankung |
| AKT1AKT serine/threonine kinase 1 | Selten (1–4 %) | In 1 Erkrankung |
| BAP1BRCA1 associated deubiquitinase 1 | Selten (1–4 %) | In 1 Erkrankung |
| HALhistidine ammonia-lyase | Selten (1–4 %) | In 1 Erkrankung |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Selten (1–4 %) | In 1 Erkrankung |
| PDGFBplatelet derived growth factor subunit B | Selten (1–4 %) | In 1 Erkrankung |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Selten (1–4 %) | In 1 Erkrankung |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Selten (1–4 %) | In 1 Erkrankung |
| SMOsmoothened, frizzled class receptor | Selten (1–4 %) | In 1 Erkrankung |
| SPTBN1spectrin beta, non-erythrocytic 1 | Selten (1–4 %) | In 1 Erkrankung |
| SUFUSUFU negative regulator of hedgehog signaling | Selten (1–4 %) | In 1 Erkrankung |
| TERTtelomerase reverse transcriptase | Selten (1–4 %) | In 1 Erkrankung |
| TRAF7TNF receptor associated factor 7 | Selten (1–4 %) | In 1 Erkrankung |
| CCDC28Bcoiled-coil domain containing 28B | Nicht erfasst | In 1 Erkrankung |
| DNAAF4dynein axonemal assembly factor 4 | Nicht erfasst | In 1 Erkrankung |
| FHfumarate hydratase | Nicht erfasst | In 1 Erkrankung |
| GBA1glucosylceramidase beta 1 | Nicht erfasst | In 1 Erkrankung |
| MANBAmannosidase beta | Nicht erfasst | In 1 Erkrankung |
| UPB1beta-ureidopropionase 1 | Nicht erfasst | In 1 Erkrankung |
Wie häufig dieses Merkmal bei Menschen mit einer der Erkrankungen auftritt, die mit dem Gen in Verbindung stehen, und zwar der höchste Wert unter ihnen, so wie ihn die Human Phenotype Ontology erfasst. Diese Seiten beschreiben Merkmale und die dazugehörige Forschung; sie stellen keine Diagnose dar. Fragen zu Symptomen richten Sie bitte an Ihre Ärztin, Ihren Arzt oder eine genetische Beratung.
Untergeordnete Merkmale
- Delayed speech and language development983 Gene
- Difficulty articulating speech601 Gene
- Poor speech198 Gene
- Difficulty finding words95 Gene
- Dysgraphia54 Gene
- Inability to speak52 Gene
- Loss of speech46 Gene
- Loss of articulate speech26 Gene
- Stuttering25 Gene
- Explosive speech16 Gene
- Abnormal prosody15 Gene
- Incomprehensible speech8 Gene
- Text blindness7 Gene
- Abnormal speech rate
Übergeordnete Merkmale
Woher diese Angaben stammen
- Die Human Phenotype Ontology, Version 2026-09-01: das Merkmal, seine Bezeichnungen, seine Definition und die damit verknüpften Gene. Weitere Informationen finden Sie unter hpo.jax.org.
- Datenstand 2026.10.18-8b139e39.
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