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Egenskap
Fewer and broader ridges in brain
Klinisk navn: 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.
Sammendrag
- Også kalt
- Cerebral pachygyria, Macrogyria
- Kroppssystem
- Abnormality of the nervous system
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Legg til .json etter adressen til siden, eller be om application/json, for å lese den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/pachygyria.json"
page <- fromJSON(url)
page$trait$nameFewer and broader ridges in brainHP:0001302
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Les genene knyttet til Fewer and broader ridges in brain, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få 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 →
Les genene knyttet til Fewer and broader ridges in brain, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test166 gener knyttet til Fewer and broader ridges in brain
Endringer i disse genene forårsaker sjeldne tilstander der Fewer and broader ridges in brain forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Alltid | I 1 tilstand |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Alltid | I 1 tilstand |
| CASP2caspase 2 | Alltid | I 1 tilstand |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Alltid | I 1 tilstand |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Alltid | I 1 tilstand |
| CTNNA2catenin alpha 2 | Alltid | I 1 tilstand |
| EXOSC5exosome component 5 | Alltid | I 1 tilstand |
| ISCA1iron-sulfur cluster assembly 1 | Alltid | I 2 tilstander |
| KIF2Akinesin family member 2A | Alltid | I 1 tilstand |
| LAMC3laminin subunit gamma 3 | Alltid | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Alltid | I 3 tilstander |
| MACF1microtubule actin crosslinking factor 1 | Alltid | I 2 tilstander |
| SLC30A9solute carrier family 30 member 9 | Alltid | I 1 tilstand |
| SNAP29synaptosome associated protein 29 | Alltid | I 2 tilstander |
| TCTN2tectonic family member 2 | Alltid | I 1 tilstand |
| TUBG1tubulin gamma 1 | Alltid | I 1 tilstand |
| TUBGCP2tubulin gamma complex component 2 | Alltid | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Alltid | I 1 tilstand |
| ACTBactin beta | Svært ofte (80–99 %) | I 2 tilstander |
| ACTG1actin gamma 1 | Svært ofte (80–99 %) | I 2 tilstander |
| ARXaristaless related homeobox | Svært ofte (80–99 %) | I 3 tilstander |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CEP85Lcentrosomal protein 85L | Svært ofte (80–99 %) | I 2 tilstander |
| COL4A1collagen type IV alpha 1 chain | Svært ofte (80–99 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Svært ofte (80–99 %) | I 3 tilstander |
| DAG1dystroglycan 1 | Svært ofte (80–99 %) | I 1 tilstand |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FKRPfukutin related protein | Svært ofte (80–99 %) | I 5 tilstander |
| FKTNfukutin | Svært ofte (80–99 %) | I 4 tilstander |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Svært ofte (80–99 %) | I 2 tilstander |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Svært ofte (80–99 %) | I 2 tilstander |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Svært ofte (80–99 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Svært ofte (80–99 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Svært ofte (80–99 %) | I 3 tilstander |
| POMT2protein O-mannosyltransferase 2 | Svært ofte (80–99 %) | I 3 tilstander |
| RAB18RAB18, member RAS oncogene family | Svært ofte (80–99 %) | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RXYLT1ribitol xylosyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
Vis 126 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| TBC1D20TBC1 domain family member 20 | Svært ofte (80–99 %) | I 1 tilstand |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| ASPMassembly factor for spindle microtubules | Ofte (30–79 %) | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Ofte (30–79 %) | I 2 tilstander |
| ATP6V1AATPase H+ transporting V1 subunit A | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Ofte (30–79 %) | I 1 tilstand |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Ofte (30–79 %) | I 1 tilstand |
| CDK6cyclin dependent kinase 6 | Ofte (30–79 %) | I 1 tilstand |
| CENPEcentromere protein E | Ofte (30–79 %) | I 1 tilstand |
| CEP135centrosomal protein 135 | Ofte (30–79 %) | I 1 tilstand |
| CEP152centrosomal protein 152 | Ofte (30–79 %) | I 1 tilstand |
| CEP295centrosomal protein 295 | Ofte (30–79 %) | I 1 tilstand |
| CITcitron rho-interacting serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| COPB2coat protein complex I subunit beta 2 | Ofte (30–79 %) | I 1 tilstand |
| CPAPcentrosome assembly and centriole elongation protein | Ofte (30–79 %) | I 1 tilstand |
| CSNK2A1casein kinase 2 alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| DCXdoublecortin | Ofte (30–79 %) | I 2 tilstander |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 2 tilstander |
| GON7GON7 subunit of KEOPS complex | Ofte (30–79 %) | I 1 tilstand |
| KATNB1katanin regulatory subunit B1 | Ofte (30–79 %) | I 1 tilstand |
| KIF14kinesin family member 14 | Ofte (30–79 %) | I 1 tilstand |
| KNL1kinetochore scaffold 1 | Ofte (30–79 %) | I 1 tilstand |
| LAGE3L antigen family member 3 | Ofte (30–79 %) | I 1 tilstand |
| MCM7minichromosome maintenance complex component 7 | Ofte (30–79 %) | I 1 tilstand |
| MCPH1microcephalin 1 | Ofte (30–79 %) | I 1 tilstand |
| METTL5methyltransferase 5, N6-adenosine | Ofte (30–79 %) | I 1 tilstand |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Ofte (30–79 %) | I 1 tilstand |
| NCAPD3non-SMC condensin II complex subunit D3 | Ofte (30–79 %) | I 1 tilstand |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 1 tilstand |
| NUP107nucleoporin 107 | Ofte (30–79 %) | I 1 tilstand |
| NUP133nucleoporin 133 | Ofte (30–79 %) | I 1 tilstand |
| NUP37nucleoporin 37 | Ofte (30–79 %) | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Ofte (30–79 %) | I 2 tilstander |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| PDCD6IPprogrammed cell death 6 interacting protein | Ofte (30–79 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Ofte (30–79 %) | I 1 tilstand |
| PHC1polyhomeotic homolog 1 | Ofte (30–79 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Ofte (30–79 %) | I 1 tilstand |
| RRAGCRas related GTP binding C | Ofte (30–79 %) | I 1 tilstand |
| SARS1seryl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| SASS6SAS-6 centriolar assembly protein | Ofte (30–79 %) | I 1 tilstand |
| STILSTIL centriolar assembly protein | Ofte (30–79 %) | I 1 tilstand |
| TAF13TATA-box binding protein associated factor 13 | Ofte (30–79 %) | I 1 tilstand |
| TP53RKTP53 regulating kinase | Ofte (30–79 %) | I 1 tilstand |
| TPRKBTP53RK binding protein | Ofte (30–79 %) | I 2 tilstander |
| TRAPPC10trafficking protein particle complex subunit 10 | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC14trafficking protein particle complex subunit 14 | Ofte (30–79 %) | I 1 tilstand |
| TUBA1Atubulin alpha 1a | Ofte (30–79 %) | I 3 tilstander |
| TUBB2Btubulin beta 2B class IIb | Ofte (30–79 %) | I 3 tilstander |
| TUBB3tubulin beta 3 class III | Ofte (30–79 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Ofte (30–79 %) | I 1 tilstand |
| WARS1tryptophanyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| WDR62WD repeat domain 62 | Ofte (30–79 %) | I 2 tilstander |
| WDR73WD repeat domain 73 | Ofte (30–79 %) | I 2 tilstander |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Ofte (30–79 %) | I 1 tilstand |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Noen ganger (5–29 %) | I 1 tilstand |
| AKT3AKT serine/threonine kinase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| AXIN1axin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Noen ganger (5–29 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Noen ganger (5–29 %) | I 2 tilstander |
| CCBE1collagen and calcium binding EGF domains 1 | Noen ganger (5–29 %) | I 2 tilstander |
| CDKL5cyclin dependent kinase like 5 | Noen ganger (5–29 %) | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Noen ganger (5–29 %) | I 1 tilstand |
| DMXL2Dmx like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Noen ganger (5–29 %) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Noen ganger (5–29 %) | I 1 tilstand |
| FRMD5FERM domain containing 5 | Noen ganger (5–29 %) | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Noen ganger (5–29 %) | I 1 tilstand |
| GPX4glutathione peroxidase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Noen ganger (5–29 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KIFBPkinesin family binding protein | Noen ganger (5–29 %) | I 2 tilstander |
| LAMA2laminin subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LMNB1lamin B1 | Noen ganger (5–29 %) | I 1 tilstand |
| MLYCDmalonyl-CoA decarboxylase | Noen ganger (5–29 %) | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Noen ganger (5–29 %) | I 1 tilstand |
| NARS1asparaginyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NEK1NIMA related kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PDHBpyruvate dehydrogenase E1 subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| PIDD1p53-induced death domain protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Noen ganger (5–29 %) | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Noen ganger (5–29 %) | I 2 tilstander |
| PNKPpolynucleotide kinase 3'-phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| PPFIBP1PPFIB scaffold protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Noen ganger (5–29 %) | I 1 tilstand |
| RTTNrotatin | Noen ganger (5–29 %) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SIK1salt inducible kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SNF8SNF8 subunit of ESCRT-II | Noen ganger (5–29 %) | I 1 tilstand |
| TMX2thioredoxin related transmembrane protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR26WD repeat domain 26 | Noen ganger (5–29 %) | I 1 tilstand |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Sjelden (1–4%) | I 1 tilstand |
| TBR1T-box brain transcription factor 1 | Sjelden (1–4%) | I 1 tilstand |
| ARHGAP31Rho GTPase activating protein 31 | Ikke registrert | I 1 tilstand |
| ATRATR checkpoint kinase | Ikke registrert | I 1 tilstand |
| CRADDCARD and death domain containing adaptor protein | Ikke registrert | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Ikke registrert | I 1 tilstand |
| ETFAelectron transfer flavoprotein subunit alpha | Ikke registrert | I 1 tilstand |
| ETFBelectron transfer flavoprotein subunit beta | Ikke registrert | I 1 tilstand |
| ETFDHelectron transfer flavoprotein dehydrogenase | Ikke registrert | I 1 tilstand |
| NDE1nudE neurodevelopment protein 1 | Ikke registrert | I 1 tilstand |
| OCLNoccludin | Ikke registrert | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Ikke registrert | I 1 tilstand |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Ikke registrert | I 1 tilstand |
| RMND1required for meiotic nuclear division 1 homolog | Ikke registrert | I 1 tilstand |
| TCTN1tectonic family member 1 | Ikke registrert | I 1 tilstand |
| TUBGCP6tubulin gamma complex component 6 | Ikke registrert | I 1 tilstand |
| VLDLRvery low density lipoprotein receptor | Ikke registrert | I 1 tilstand |
| ZNHIT3zinc finger HIT-type containing 3 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.19-9814e911.
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