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Egenskap
Fewer and broader ridges in brain
Kliniskt namn: Pachygyria
Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.
Sammanfattning
- Även kallad
- Cerebral pachygyria, Macrogyria
- Kroppssystem
- Abnormality of the nervous system
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url <- "https://dantelabs.com/traits/pachygyria.json"
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page$trait$nameFewer and broader ridges in brainHP:0001302
AtlasVem vi hjälperVår vetenskapProdukterResultat
Logga inFrågaSekvensera ditt genom↗
Läs generna kopplade till Fewer and broader ridges in brain, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test69 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.
- Autosomal Recessive Primary MicrocephalyReads 15 of these genesANKLE2ASPMCDK5RAP2CEP135CEP152CITAbout this report →
- Lissencephaly Spectrum DisordersReads 16 of these genesCTNNA2MACF1TUBG1ACTBACTG1ARXAbout this report →
- Congenital Muscular DystrophiesReads 14 of these genesLARGE1B3GALNT2B4GAT1CRPPADAG1FKRPAbout this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 9 of these genesCAMSAP1CTNNA2KIF2ATUBG1TUBGCP2DYNC1H1About this report →
Show 65 more reports
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 4 of these genesAKT3MTORPIK3CAPIK3R2About this report →
- Epilepsy (Full Panel)Reads 22 of these genesARXATP6V1ACACNA1ECDKL5DMXL2FBXO28About this report →
- Congenital Disorders of GlycosylationReads 10 of these genesCRPPADAG1FKRPFKTNPOMGNT1POMGNT2About this report →
- Fatty Acid Oxidation & Carnitine Cycle DisordersReads 4 of these genesCPT2ETFAETFBETFDHAbout this report →
- Hereditary Episodic AtaxiasReads 2 of these genesKCNA1SCN2AAbout this report →
- TubulinopathiesReads 2 of these genesTUBA1ATUBB3About this report →
- Amyotrophic Lateral Sclerosis Susceptibility 24 (NEK1)Reads 1 of these genesNEK1About this report →
- COL4A1-Related DisorderReads 1 of these genesCOL4A1About this report →
- DesmosterolosisReads 1 of these genesDHCR24About this report →
- FAT4-Related Neurodevelopmental DisorderReads 1 of these genesFAT4About this report →
- KAT6B-Related DisordersReads 1 of these genesKAT6BAbout this report →
- Marshall-Smith SyndromeReads 1 of these genesNFIXAbout this report →
- MCPH1-Related Primary MicrocephalyReads 1 of these genesMCPH1About this report →
- Microcephaly and Chorioretinopathy 1 (TUBGCP6)Reads 1 of these genesTUBGCP6About this report →
- NDE1-Related MicrolissencephalyReads 1 of these genesNDE1About this report →
- Primary Microcephaly 26 (LMNB1)Reads 1 of these genesLMNB1About this report →
- RNU4ATAC Spectrum DisorderReads 1 of these genesRNU4ATACAbout this report →
- RTTN-Related Microcephalic Primordial DwarfismReads 1 of these genesRTTNAbout this report →
- Skraban-Deardorff SyndromeReads 1 of these genesWDR26About this report →
- TRIM8-Related Neurodevelopmental and Kidney DisorderReads 1 of these genesTRIM8About this report →
- Limb-Girdle Muscular DystrophyReads 5 of these genesDAG1FKRPFKTNPOMGNT1LAMA2About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 4 of these genesRAB18RAB3GAP1RAB3GAP2TBC1D20About this report →
- Congenital Cranial Dysinnervation DisordersReads 2 of these genesTUBA1ATUBB3About this report →
- Cutis LaxaReads 3 of these genesATP6V0A2ATP6V1AATP6V1E1About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 3 of these genesADAMTS3CCBE1FAT4About this report →
- Inherited Neurodegenerative DisordersReads 13 of these genesSLC30A9DYNC1H1FIG4PEX2PLP1PYCR2About this report →
- Intellectual DisabilityReads 10 of these genesDYNC1H1NSDHLCSNK2A1METTL5TAF13CASKAbout this report →
- Meckel SyndromeReads 2 of these genesTCTN2KIF14About this report →
- Rare Hereditary Peripheral NeuropathiesReads 9 of these genesDYNC1H1FIG4PEX2SARS1WARS1PDHBAbout this report →
- Hirschsprung Disease & Related Enteric NeurocristopathiesReads 1 of these genesKIFBPAbout this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRNU4ATACAbout this report →
- Monogenic Early-Onset OsteoporosisReads 1 of these genesCOPB2About this report →
- Other Inherited LeukodystrophiesReads 5 of these genesPEX2PLP1PYCR2LMNB1PEX10About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 2 of these genesPEX2PEX10About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 3 of these genesACTBVAC14PNKPAbout this report →
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)Reads 1 of these genesLMNB1About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesNFIXAbout this report →
- GPI Anchor Biosynthesis DefectsReads 2 of these genesPIGPPIGQAbout this report →
- Adams-Oliver SyndromeReads 1 of these genesARHGAP31About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 2 of these genesPLP1PYCR2About this report →
- Hypertrophic CardiomyopathyReads 3 of these genesETFAETFBETFDHAbout this report →
- Spinal Muscular AtrophyReads 2 of these genesDYNC1H1WARS1About this report →
- Classic Organic AciduriasReads 1 of these genesMLYCDAbout this report →
- Nephrotic SyndromeReads 2 of these genesNUP107NUP133About this report →
- Inherited ThrombocytopeniasReads 2 of these genesACTBFLI1About this report →
- Charcot-Marie-Tooth DiseaseReads 3 of these genesDYNC1H1FIG4WARS1About this report →
- Autism Spectrum DisorderReads 1 of these genesTBR1About this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 1 of these genesPDHBAbout this report →
- Joubert Syndrome And Related DisordersReads 2 of these genesTCTN2TCTN1About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesPNKPVLDLRAbout this report →
- Leigh SyndromeReads 2 of these genesPDHBGFM2About this report →
- Inherited IchthyosesReads 1 of these genesNSDHLAbout this report →
- VitreoretinopathyReads 1 of these genesDYNC1H1About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesFIG4About this report →
- Severe Combined ImmunodeficiencyReads 1 of these genesPRKDCAbout this report →
- Osteogenesis ImperfectaReads 1 of these genesATP6V0A2About this report →
- Primary Mitochondrial DiseaseReads 2 of these genesGFM2RMND1About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesSNAP29About this report →
- Dilated CardiomyopathyReads 1 of these genesFKTNAbout this report →
- Hypogonadotropic HypogonadismReads 1 of these genesRAB3GAP2About this report →
- Female InfertilityReads 1 of these genesNUP107About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesPLP1About this report →
- Retinitis PigmentosaReads 1 of these genesPOMGNT1About this report →
- Hearing Loss and DeafnessReads 1 of these genesACTG1About this report →
- Other Inborn Errors of ImmunityReads 1 of these genesPRKDCAbout this report →
Läs generna kopplade till Fewer and broader ridges in brain, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test166 gener kopplade till Fewer and broader ridges in brain
Förändringar i dessa gener orsakar sällsynta tillstånd där Fewer and broader ridges in brain 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 |
|---|---|---|
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Alltid | I 1 tillstånd |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Alltid | I 1 tillstånd |
| CASP2caspase 2 | Alltid | I 1 tillstånd |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Alltid | I 1 tillstånd |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Alltid | I 1 tillstånd |
| CTNNA2catenin alpha 2 | Alltid | I 1 tillstånd |
| EXOSC5exosome component 5 | Alltid | I 1 tillstånd |
| ISCA1iron-sulfur cluster assembly 1 | Alltid | I 2 tillstånd |
| KIF2Akinesin family member 2A | Alltid | I 1 tillstånd |
| LAMC3laminin subunit gamma 3 | Alltid | I 1 tillstånd |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Alltid | I 3 tillstånd |
| MACF1microtubule actin crosslinking factor 1 | Alltid | I 2 tillstånd |
| SLC30A9solute carrier family 30 member 9 | Alltid | I 1 tillstånd |
| SNAP29synaptosome associated protein 29 | Alltid | I 2 tillstånd |
| TCTN2tectonic family member 2 | Alltid | I 1 tillstånd |
| TUBG1tubulin gamma 1 | Alltid | I 1 tillstånd |
| TUBGCP2tubulin gamma complex component 2 | Alltid | I 1 tillstånd |
| WSB2WD repeat and SOCS box containing 2 | Alltid | I 1 tillstånd |
| ACTBactin beta | Mycket ofta (80–99 %) | I 2 tillstånd |
| ACTG1actin gamma 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| ARXaristaless related homeobox | Mycket ofta (80–99 %) | I 3 tillstånd |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| CEP85Lcentrosomal protein 85L | Mycket ofta (80–99 %) | I 2 tillstånd |
| COL4A1collagen type IV alpha 1 chain | Mycket ofta (80–99 %) | I 1 tillstånd |
| CRPPACDP-L-ribitol pyrophosphorylase A | Mycket ofta (80–99 %) | I 3 tillstånd |
| DAG1dystroglycan 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| FKRPfukutin related protein | Mycket ofta (80–99 %) | I 5 tillstånd |
| FKTNfukutin | Mycket ofta (80–99 %) | I 4 tillstånd |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Mycket ofta (80–99 %) | I 2 tillstånd |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Mycket ofta (80–99 %) | I 2 tillstånd |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Mycket ofta (80–99 %) | I 1 tillstånd |
| POMKprotein O-mannose kinase | Mycket ofta (80–99 %) | I 1 tillstånd |
| POMT1protein O-mannosyltransferase 1 | Mycket ofta (80–99 %) | I 3 tillstånd |
| POMT2protein O-mannosyltransferase 2 | Mycket ofta (80–99 %) | I 3 tillstånd |
| RAB18RAB18, member RAS oncogene family | Mycket ofta (80–99 %) | I 1 tillstånd |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| RXYLT1ribitol xylosyltransferase 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
Visa 126 gener till
| Gen | Hur ofta den förekommer | Tillstånd |
|---|---|---|
| TBC1D20TBC1 domain family member 20 | Mycket ofta (80–99 %) | I 1 tillstånd |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Ofta (30–79 %) | I 1 tillstånd |
| ASPMassembly factor for spindle microtubules | Ofta (30–79 %) | I 1 tillstånd |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Ofta (30–79 %) | I 2 tillstånd |
| ATP6V1AATPase H+ transporting V1 subunit A | Ofta (30–79 %) | I 1 tillstånd |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Ofta (30–79 %) | I 1 tillstånd |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Ofta (30–79 %) | I 1 tillstånd |
| CDK6cyclin dependent kinase 6 | Ofta (30–79 %) | I 1 tillstånd |
| CENPEcentromere protein E | Ofta (30–79 %) | I 1 tillstånd |
| CEP135centrosomal protein 135 | Ofta (30–79 %) | I 1 tillstånd |
| CEP152centrosomal protein 152 | Ofta (30–79 %) | I 1 tillstånd |
| CEP295centrosomal protein 295 | Ofta (30–79 %) | I 1 tillstånd |
| CITcitron rho-interacting serine/threonine kinase | Ofta (30–79 %) | I 1 tillstånd |
| COPB2coat protein complex I subunit beta 2 | Ofta (30–79 %) | I 1 tillstånd |
| CPAPcentrosome assembly and centriole elongation protein | Ofta (30–79 %) | I 1 tillstånd |
| CSNK2A1casein kinase 2 alpha 1 | Ofta (30–79 %) | I 1 tillstånd |
| DCXdoublecortin | Ofta (30–79 %) | I 2 tillstånd |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofta (30–79 %) | I 2 tillstånd |
| GON7GON7 subunit of KEOPS complex | Ofta (30–79 %) | I 1 tillstånd |
| KATNB1katanin regulatory subunit B1 | Ofta (30–79 %) | I 1 tillstånd |
| KIF14kinesin family member 14 | Ofta (30–79 %) | I 1 tillstånd |
| KNL1kinetochore scaffold 1 | Ofta (30–79 %) | I 1 tillstånd |
| LAGE3L antigen family member 3 | Ofta (30–79 %) | I 1 tillstånd |
| MCM7minichromosome maintenance complex component 7 | Ofta (30–79 %) | I 1 tillstånd |
| MCPH1microcephalin 1 | Ofta (30–79 %) | I 1 tillstånd |
| METTL5methyltransferase 5, N6-adenosine | Ofta (30–79 %) | I 1 tillstånd |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Ofta (30–79 %) | I 1 tillstånd |
| NCAPD3non-SMC condensin II complex subunit D3 | Ofta (30–79 %) | I 1 tillstånd |
| NFIXnuclear factor I X | Ofta (30–79 %) | I 1 tillstånd |
| NUP107nucleoporin 107 | Ofta (30–79 %) | I 1 tillstånd |
| NUP133nucleoporin 133 | Ofta (30–79 %) | I 1 tillstånd |
| NUP37nucleoporin 37 | Ofta (30–79 %) | I 1 tillstånd |
| OSGEPO-sialoglycoprotein endopeptidase | Ofta (30–79 %) | I 2 tillstånd |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Ofta (30–79 %) | I 2 tillstånd |
| PDCD6IPprogrammed cell death 6 interacting protein | Ofta (30–79 %) | I 1 tillstånd |
| PEX2peroxisomal biogenesis factor 2 | Ofta (30–79 %) | I 1 tillstånd |
| PHC1polyhomeotic homolog 1 | Ofta (30–79 %) | I 1 tillstånd |
| PLP1proteolipid protein 1 | Ofta (30–79 %) | I 1 tillstånd |
| PYCR2pyrroline-5-carboxylate reductase 2 | Ofta (30–79 %) | I 1 tillstånd |
| RRAGCRas related GTP binding C | Ofta (30–79 %) | I 1 tillstånd |
| SARS1seryl-tRNA synthetase 1 | Ofta (30–79 %) | I 1 tillstånd |
| SASS6SAS-6 centriolar assembly protein | Ofta (30–79 %) | I 1 tillstånd |
| STILSTIL centriolar assembly protein | Ofta (30–79 %) | I 1 tillstånd |
| TAF13TATA-box binding protein associated factor 13 | Ofta (30–79 %) | I 1 tillstånd |
| TP53RKTP53 regulating kinase | Ofta (30–79 %) | I 1 tillstånd |
| TPRKBTP53RK binding protein | Ofta (30–79 %) | I 2 tillstånd |
| TRAPPC10trafficking protein particle complex subunit 10 | Ofta (30–79 %) | I 1 tillstånd |
| TRAPPC14trafficking protein particle complex subunit 14 | Ofta (30–79 %) | I 1 tillstånd |
| TUBA1Atubulin alpha 1a | Ofta (30–79 %) | I 3 tillstånd |
| TUBB2Btubulin beta 2B class IIb | Ofta (30–79 %) | I 3 tillstånd |
| TUBB3tubulin beta 3 class III | Ofta (30–79 %) | I 1 tillstånd |
| VAC14VAC14 component of PIKFYVE complex | Ofta (30–79 %) | I 1 tillstånd |
| WARS1tryptophanyl-tRNA synthetase 1 | Ofta (30–79 %) | I 1 tillstånd |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Ofta (30–79 %) | I 1 tillstånd |
| WDR62WD repeat domain 62 | Ofta (30–79 %) | I 2 tillstånd |
| WDR73WD repeat domain 73 | Ofta (30–79 %) | I 2 tillstånd |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Ofta (30–79 %) | I 1 tillstånd |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Ibland (5–29 %) | I 1 tillstånd |
| AKT3AKT serine/threonine kinase 3 | Ibland (5–29 %) | I 1 tillstånd |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Ibland (5–29 %) | I 1 tillstånd |
| AXIN1axin 1 | Ibland (5–29 %) | I 1 tillstånd |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Ibland (5–29 %) | I 1 tillstånd |
| CASKcalcium/calmodulin dependent serine protein kinase | Ibland (5–29 %) | I 2 tillstånd |
| CCBE1collagen and calcium binding EGF domains 1 | Ibland (5–29 %) | I 2 tillstånd |
| CDKL5cyclin dependent kinase like 5 | Ibland (5–29 %) | I 1 tillstånd |
| CPT2carnitine palmitoyltransferase 2 | Ibland (5–29 %) | I 1 tillstånd |
| DHCR2424-dehydrocholesterol reductase | Ibland (5–29 %) | I 1 tillstånd |
| DMXL2Dmx like 2 | Ibland (5–29 %) | I 1 tillstånd |
| FAT4FAT atypical cadherin 4 | Ibland (5–29 %) | I 1 tillstånd |
| FBXO28F-box protein 28 | Ibland (5–29 %) | I 1 tillstånd |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Ibland (5–29 %) | I 1 tillstånd |
| FOXG1forkhead box G1 | Ibland (5–29 %) | I 1 tillstånd |
| FRMD5FERM domain containing 5 | Ibland (5–29 %) | I 1 tillstånd |
| GNAO1G protein subunit alpha o1 | Ibland (5–29 %) | I 1 tillstånd |
| GPX4glutathione peroxidase 4 | Ibland (5–29 %) | I 1 tillstånd |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Ibland (5–29 %) | I 1 tillstånd |
| GRM7glutamate metabotropic receptor 7 | Ibland (5–29 %) | I 1 tillstånd |
| KAT6Blysine acetyltransferase 6B | Ibland (5–29 %) | I 1 tillstånd |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Ibland (5–29 %) | I 1 tillstånd |
| KIFBPkinesin family binding protein | Ibland (5–29 %) | I 2 tillstånd |
| LAMA2laminin subunit alpha 2 | Ibland (5–29 %) | I 1 tillstånd |
| LGI1leucine rich glioma inactivated 1 | Ibland (5–29 %) | I 1 tillstånd |
| LMNB1lamin B1 | Ibland (5–29 %) | I 1 tillstånd |
| MLYCDmalonyl-CoA decarboxylase | Ibland (5–29 %) | I 1 tillstånd |
| MTORmechanistic target of rapamycin kinase | Ibland (5–29 %) | I 1 tillstånd |
| NARS1asparaginyl-tRNA synthetase 1 | Ibland (5–29 %) | I 1 tillstånd |
| NEK1NIMA related kinase 1 | Ibland (5–29 %) | I 1 tillstånd |
| NEUROD2neuronal differentiation 2 | Ibland (5–29 %) | I 1 tillstånd |
| PDHBpyruvate dehydrogenase E1 subunit beta | Ibland (5–29 %) | I 1 tillstånd |
| PIDD1p53-induced death domain protein 1 | Ibland (5–29 %) | I 1 tillstånd |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Ibland (5–29 %) | I 1 tillstånd |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Ibland (5–29 %) | I 1 tillstånd |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ibland (5–29 %) | I 2 tillstånd |
| PNKPpolynucleotide kinase 3'-phosphatase | Ibland (5–29 %) | I 1 tillstånd |
| PPFIBP1PPFIB scaffold protein 1 | Ibland (5–29 %) | I 1 tillstånd |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Ibland (5–29 %) | I 1 tillstånd |
| RHOBTB2Rho related BTB domain containing 2 | Ibland (5–29 %) | I 1 tillstånd |
| RNU4ATACRNA, U4atac small nuclear | Ibland (5–29 %) | I 1 tillstånd |
| RTTNrotatin | Ibland (5–29 %) | I 1 tillstånd |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Ibland (5–29 %) | I 1 tillstånd |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Ibland (5–29 %) | I 1 tillstånd |
| SIK1salt inducible kinase 1 | Ibland (5–29 %) | I 1 tillstånd |
| SLC25A22solute carrier family 25 member 22 | Ibland (5–29 %) | I 1 tillstånd |
| SLC32A1solute carrier family 32 member 1 | Ibland (5–29 %) | I 1 tillstånd |
| SNF8SNF8 subunit of ESCRT-II | Ibland (5–29 %) | I 1 tillstånd |
| TMX2thioredoxin related transmembrane protein 2 | Ibland (5–29 %) | I 1 tillstånd |
| TRIM8tripartite motif containing 8 | Ibland (5–29 %) | I 1 tillstånd |
| WDR26WD repeat domain 26 | Ibland (5–29 %) | I 1 tillstånd |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Sällan (1–4%) | I 1 tillstånd |
| TBR1T-box brain transcription factor 1 | Sällan (1–4%) | I 1 tillstånd |
| ARHGAP31Rho GTPase activating protein 31 | Inte registrerat | I 1 tillstånd |
| ATRATR checkpoint kinase | Inte registrerat | I 1 tillstånd |
| CRADDCARD and death domain containing adaptor protein | Inte registrerat | I 1 tillstånd |
| DCHS1dachsous cadherin-related 1 | Inte registrerat | I 1 tillstånd |
| ETFAelectron transfer flavoprotein subunit alpha | Inte registrerat | I 1 tillstånd |
| ETFBelectron transfer flavoprotein subunit beta | Inte registrerat | I 1 tillstånd |
| ETFDHelectron transfer flavoprotein dehydrogenase | Inte registrerat | I 1 tillstånd |
| NDE1nudE neurodevelopment protein 1 | Inte registrerat | I 1 tillstånd |
| OCLNoccludin | Inte registrerat | I 1 tillstånd |
| PEX10peroxisomal biogenesis factor 10 | Inte registrerat | I 1 tillstånd |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Inte registrerat | I 1 tillstånd |
| RMND1required for meiotic nuclear division 1 homolog | Inte registrerat | I 1 tillstånd |
| TCTN1tectonic family member 1 | Inte registrerat | I 1 tillstånd |
| TUBGCP6tubulin gamma complex component 6 | Inte registrerat | I 1 tillstånd |
| VLDLRvery low density lipoprotein receptor | Inte registrerat | I 1 tillstånd |
| ZNHIT3zinc finger HIT-type containing 3 | 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
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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 2026.10.19-9814e911.
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