Egenskap
Overfolded ears
Kliniskt namn: Overfolded helix
A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.
Sammanfattning
- Även kallad
- Over-folded helices, Overfolded helices
- Kroppssystem
- Abnormality of the ear
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library(jsonlite)
url <- "https://dantelabs.com/traits/overfolded-helix.json"
page <- fromJSON(url)
page$trait$nameLäs generna kopplade till Overfolded ears, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test50 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.
- 22q11.2 Deletion SyndromeReads 1 of these genesTBX1About this report →
- CHARGE SyndromeReads 1 of these genesCHD7About this report →
- Dias-Logan SyndromeReads 1 of these genesBCL11AAbout this report →
- Dyssegmental Dysplasia, Silverman-Handmaker TypeReads 1 of these genesHSPG2About this report →
Show 46 more reports
- EBF3-Related Neurodevelopmental Disorder (HADDS)Reads 1 of these genesEBF3About this report →
- FOXP2-Related Speech and Language DisorderReads 1 of these genesFOXP2About this report →
- Lessel-Kreienkamp SyndromeReads 1 of these genesAGO2About this report →
- Mandibulofacial Dysostosis with MicrocephalyReads 1 of these genesEFTUD2About this report →
- Marshall-Smith SyndromeReads 1 of these genesNFIXAbout this report →
- MEND SyndromeReads 1 of these genesEBPAbout this report →
- NFIA-Related Brain MalformationsReads 1 of these genesNFIAAbout this report →
- Scalp-Ear-Nipple SyndromeReads 1 of these genesKCTD1About this report →
- Schwartz-Jampel Syndrome Type 1Reads 1 of these genesHSPG2About this report →
- Townes-Brocks SyndromeReads 1 of these genesSALL1About this report →
- Intellectual DisabilityReads 15 of these genesCREBBPCSNK2A1JMJD1CPIGLPOGZAHDC1About this report →
- GPI Anchor Biosynthesis DefectsReads 4 of these genesPIGAPIGBPIGLPIGNAbout this report →
- Noonan SyndromeReads 4 of these genesCBLERFLZTR1PPP1CBAbout this report →
- Syndromic CraniosynostosisReads 4 of these genesRECQL4TWIST1ERFZNF462About this report →
- Kabuki SyndromeReads 1 of these genesKMT2DAbout this report →
- Syndromic Complex Neurodevelopmental DisorderReads 3 of these genesRNU4-2ZFXZMYND11About this report →
- Rothmund-Thomson SyndromeReads 1 of these genesRECQL4About this report →
- Achondrogenesis panelReads 1 of these genesSLC26A2About this report →
- NeurofibromatosisReads 1 of these genesLZTR1About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesNFIXAbout this report →
- TubulinopathiesReads 1 of these genesTUBBAbout this report →
- Cornelia de Lange SyndromeReads 1 of these genesSMC1AAbout this report →
- Loeys-Dietz SyndromeReads 1 of these genesTGFB3About this report →
- Hypertrophic CardiomyopathyReads 3 of these genesERFLZTR1PPP1CBAbout this report →
- Inherited ThrombocytopeniasReads 2 of these genesGP1BBACTBAbout this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 1 of these genesSLC26A2About this report →
- Inherited Platelet Function DisordersReads 1 of these genesGP1BBAbout this report →
- Joubert Syndrome And Related DisordersReads 2 of these genesCSPP1KIAA0586About this report →
- Agammaglobulinaemia (XLA and Autosomal Forms)Reads 1 of these genesTCF3About this report →
- Marfan Like SyndromesReads 1 of these genesTGFB3About this report →
- Congenital Disorders of GlycosylationReads 3 of these genesPIGAPIGLPIGNAbout this report →
- Epilepsy (Full Panel)Reads 4 of these genesPIGAPIGBGNB1SMC1AAbout this report →
- OsteopetrosisReads 1 of these genesAMER1About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesCSPP1KIAA0586About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 1 of these genesTUBBAbout this report →
- Fatty Acid Oxidation & Carnitine Cycle DisordersReads 1 of these genesCPT2About this report →
- Fanconi AnemiaReads 1 of these genesFANCBAbout this report →
- Lissencephaly Spectrum DisordersReads 1 of these genesACTBAbout this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesPYCR2About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesBCORAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesACTBAbout this report →
- Inherited Neurodegenerative DisordersReads 3 of these genesCSPP1KIAA0586PYCR2About this report →
- DNA Repair DiseaseReads 1 of these genesFANCBAbout this report →
- Hypogonadotropic HypogonadismReads 1 of these genesCHD7About this report →
- Other Inborn Errors of ImmunityReads 2 of these genesTCF3TBX1About this report →
- Other Inherited LeukodystrophiesReads 1 of these genesPYCR2About this report →
Läs generna kopplade till Overfolded ears, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test88 gener kopplade till Overfolded ears
Förändringar i dessa gener orsakar sällsynta tillstånd där Overfolded ears förekommer. De flesta med denna egenskap har inget av dessa tillstånd, och en gen på listan säger ingenting om någons eget genom.
| Gen | Hur ofta den förekommer | Tillstånd |
|---|---|---|
| CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex | Alltid | I 1 tillstånd |
| EBPEBP cholestenol delta-isomerase | Alltid | I 1 tillstånd |
| HOXA2homeobox A2 | Alltid | I 1 tillstånd |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tillstånd |
| NFIAnuclear factor I A | Alltid | I 1 tillstånd |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Alltid | I 1 tillstånd |
| TCF3transcription factor 3 | Alltid | I 1 tillstånd |
| TGFB3transforming growth factor beta 3 | Alltid | I 1 tillstånd |
| VPS51VPS51 subunit of GARP complex | Alltid | I 1 tillstånd |
| ZSCAN10zinc finger and SCAN domain containing 10 | Alltid | I 1 tillstånd |
| CHD7chromodomain helicase DNA binding protein 7 | Mycket ofta (80–99 %) | I 1 tillstånd |
| KCTD1potassium channel tetramerization domain containing 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| LONP1lon peptidase 1, mitochondrial | Mycket ofta (80–99 %) | I 1 tillstånd |
| SEMA3Esemaphorin 3E | Mycket ofta (80–99 %) | I 1 tillstånd |
| ARVCFARVCF delta catenin family member | Ofta (30–79 %) | I 1 tillstånd |
| CBLCbl proto-oncogene | Ofta (30–79 %) | I 1 tillstånd |
| CLIC2CLIC family member 2 | Ofta (30–79 %) | I 1 tillstånd |
| COMTcatechol-O-methyltransferase | Ofta (30–79 %) | I 1 tillstånd |
| CREBBPCREB binding lysine acetyltransferase | Ofta (30–79 %) | I 1 tillstånd |
| CSNK2A1casein kinase 2 alpha 1 | Ofta (30–79 %) | I 1 tillstånd |
| DACT1dishevelled binding antagonist of beta catenin 1 | Ofta (30–79 %) | I 2 tillstånd |
| DDX6DEAD-box helicase 6 | Ofta (30–79 %) | I 1 tillstånd |
| EBF3EBF transcription factor 3 | Ofta (30–79 %) | I 1 tillstånd |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Ofta (30–79 %) | I 2 tillstånd |
| FREM1FRAS1 related extracellular matrix 1 | Ofta (30–79 %) | I 1 tillstånd |
| FZD2frizzled class receptor 2 | Ofta (30–79 %) | I 1 tillstånd |
| GON4Lgon-4 like | Ofta (30–79 %) | I 1 tillstånd |
| GP1BBglycoprotein Ib platelet subunit beta | Ofta (30–79 %) | I 1 tillstånd |
| HIRAhistone cell cycle regulator | Ofta (30–79 %) | I 1 tillstånd |
| HSPG2heparan sulfate proteoglycan 2 | Ofta (30–79 %) | I 2 tillstånd |
| JMJD1Cjumonji domain containing 1C | Ofta (30–79 %) | I 1 tillstånd |
| MAPRE2microtubule associated protein RP/EB family member 2 | Ofta (30–79 %) | I 1 tillstånd |
| NFIXnuclear factor I X | Ofta (30–79 %) | I 1 tillstånd |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Ofta (30–79 %) | I 1 tillstånd |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Ofta (30–79 %) | I 1 tillstånd |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Ofta (30–79 %) | I 1 tillstånd |
| POGZpogo transposable element derived with ZNF domain | Ofta (30–79 %) | I 1 tillstånd |
| RECQL4RecQ like helicase 4 | Ofta (30–79 %) | I 1 tillstånd |
| RNU5B-1RNA, U5B small nuclear 1 | Ofta (30–79 %) | I 1 tillstånd |
| RPS23ribosomal protein S23 | Ofta (30–79 %) | I 1 tillstånd |
Visa 48 gener till
| Gen | Hur ofta den förekommer | Tillstånd |
|---|---|---|
| RREB1ras responsive element binding protein 1 | Ofta (30–79 %) | I 1 tillstånd |
| SALL1spalt like transcription factor 1 | Ofta (30–79 %) | I 1 tillstånd |
| SCARF2scavenger receptor class F member 2 | Ofta (30–79 %) | I 1 tillstånd |
| SEC24CSEC24 homolog C, COPII component | Ofta (30–79 %) | I 1 tillstånd |
| SLC26A2solute carrier family 26 member 2 | Ofta (30–79 %) | I 1 tillstånd |
| TASP1taspase 1 | Ofta (30–79 %) | I 1 tillstånd |
| TBX1T-box transcription factor 1 | Ofta (30–79 %) | I 1 tillstånd |
| TUBBtubulin beta class I | Ofta (30–79 %) | I 1 tillstånd |
| TWIST1twist family bHLH transcription factor 1 | Ofta (30–79 %) | I 1 tillstånd |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Ofta (30–79 %) | I 1 tillstånd |
| ACTBactin beta | Ibland (5–29 %) | I 2 tillstånd |
| AHDC1AT-hook DNA binding motif containing 1 | Ibland (5–29 %) | I 1 tillstånd |
| ASXL2ASXL transcriptional regulator 2 | Ibland (5–29 %) | I 1 tillstånd |
| BHLHA9basic helix-loop-helix family member a9 | Ibland (5–29 %) | I 1 tillstånd |
| CDK13cyclin dependent kinase 13 | Ibland (5–29 %) | I 1 tillstånd |
| CSPP1centrosome and spindle pole associated protein 1 | Ibland (5–29 %) | I 1 tillstånd |
| CTCFCCCTC-binding factor | Ibland (5–29 %) | I 1 tillstånd |
| ERFETS2 repressor factor | Ibland (5–29 %) | I 1 tillstånd |
| FANCBFA complementation group B | Ibland (5–29 %) | I 1 tillstånd |
| GNB1G protein subunit beta 1 | Ibland (5–29 %) | I 2 tillstånd |
| HYAL2hyaluronidase 2 | Ibland (5–29 %) | I 1 tillstånd |
| KDM2Blysine demethylase 2B | Ibland (5–29 %) | I 1 tillstånd |
| KIAA0586KIAA0586 | Ibland (5–29 %) | I 1 tillstånd |
| KMT2Dlysine methyltransferase 2D | Ibland (5–29 %) | I 1 tillstånd |
| LZTR1leucine zipper like post translational regulator 1 | Ibland (5–29 %) | I 1 tillstånd |
| MARK2microtubule affinity regulating kinase 2 | Ibland (5–29 %) | I 1 tillstånd |
| NARS1asparaginyl-tRNA synthetase 1 | Ibland (5–29 %) | I 1 tillstånd |
| PGM2L1phosphoglucomutase 2 like 1 | Ibland (5–29 %) | I 1 tillstånd |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ibland (5–29 %) | I 2 tillstånd |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Ibland (5–29 %) | I 1 tillstånd |
| PYCR2pyrroline-5-carboxylate reductase 2 | Ibland (5–29 %) | I 1 tillstånd |
| RNU4-2RNA, U4 small nuclear 2 | Ibland (5–29 %) | I 1 tillstånd |
| SMC1Astructural maintenance of chromosomes 1A | Ibland (5–29 %) | I 1 tillstånd |
| TBX2T-box transcription factor 2 | Ibland (5–29 %) | I 1 tillstånd |
| TRIOtrio Rho guanine nucleotide exchange factor | Ibland (5–29 %) | I 1 tillstånd |
| ZFXzinc finger protein X-linked | Ibland (5–29 %) | I 1 tillstånd |
| ZMYND11zinc finger MYND-type containing 11 | Ibland (5–29 %) | I 1 tillstånd |
| AGO2argonaute RISC catalytic component 2 | Sällan (1–4%) | I 1 tillstånd |
| FOXP2forkhead box P2 | Sällan (1–4%) | I 1 tillstånd |
| ZNF462zinc finger protein 462 | Sällan (1–4%) | I 1 tillstånd |
| AMER1APC membrane recruitment protein 1 | Inte registrerat | I 1 tillstånd |
| AMMECR1AMMECR nuclear protein 1 | Inte registrerat | I 1 tillstånd |
| BCL11ABCL11 transcription factor A | Inte registrerat | I 1 tillstånd |
| BCORBCL6 corepressor | Inte registrerat | I 1 tillstånd |
| CPT2carnitine palmitoyltransferase 2 | Inte registrerat | I 1 tillstånd |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Inte registrerat | I 1 tillstånd |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Inte registrerat | I 1 tillstånd |
| TFAP2Atranscription factor AP-2 alpha | Inte registrerat | I 1 tillstånd |
Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.
Mer specifika egenskaper
Bredare egenskaper
Varifrån informationen kommer
- Human Phenotype Ontology, version 2026-09-01: egenskapen, dess namn, definition och de gener som är kopplade till den. Läs mer på hpo.jax.org.
- Dataversion 2026.10.21-777c9289.
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Fri frakt · Resultat inom 6–8 veckor
