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Træk
Delayed motor skills
Klinisk navn: Delayed gross motor development
A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.
Resumé
- Også kaldet
- Delayed attainment of gross motor milestones, Delayed attainment of gross motor skills, Delayed development of gross motor milestones, Delayed development of gross motor skills, Delayed gross motor milestones, Delayed gross motor skills, Developmental delay, gross motor, Gross motor delay, Limited gross motor development, Limited gross motor skills
- Kropssystem
- Abnormality of the nervous system
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Denne side som data
Tilføj .json til sidens adresse, eller bed om application/json, for at læse den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/delayed-gross-motor-development.json"
page <- fromJSON(url)
page$trait$nameDelayed motor skillsHP:0002194
AtlasHvem vi hjælperVores videnskabProdukterResultater
Log indSpørgSekvenér dit genom↗
Læs de gener, der er knyttet til Delayed motor skills, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test111 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.
- Congenital Cranial Dysinnervation DisordersReads 5 of these genesTUBB3COL25A1KIF21APHOX2ATUBA1AAbout this report →
- Congenital MyopathiesReads 8 of these genesCFL2TNNT1BIN1DNM2MYH7RYR1About this report →
- Intellectual DisabilityReads 24 of these genesASCC3FOXP1FRMPD4HNRNPCMYT1LNDST1About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 5 of these genesAPC2CTNNA2TUBB3TUBA1ATUBB2BAbout this report →
Show 107 more reports
- Osteogenesis ImperfectaReads 7 of these genesMESDPPIBSPARCLRP5BMP1COL1A1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 18 of these genesFDXRHARS1ITPR3NUBPLYARS1FIG4About this report →
- Charcot-Marie-Tooth DiseaseReads 10 of these genesHARS1ITPR3YARS1FIG4MORC2ATP1A1About this report →
- Ehlers-Danlos SyndromeReads 5 of these genesCHST14DSEPLOD1COL1A1COL1A2About this report →
- TubulinopathiesReads 2 of these genesTUBB3TUBA1AAbout this report →
- 3-Methylglutaconic Aciduria Type 9 (TIMM50)Reads 1 of these genesTIMM50About this report →
- Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Types A and B)Reads 1 of these genesSMPD1About this report →
- ADCY5-Related DyskinesiaReads 1 of these genesADCY5About this report →
- Beck-Fahrner SyndromeReads 1 of these genesTET3About this report →
- Caffey DiseaseReads 1 of these genesCOL1A1About this report →
- CDH2-Related ACOGSReads 1 of these genesCDH2About this report →
- Cenani-Lenz Syndactyly SyndromeReads 1 of these genesLRP4About this report →
- Christianson SyndromeReads 1 of these genesSLC9A6About this report →
- CLCN7-Related Hypopigmentation, Organomegaly and Delayed Myelination (HOD)Reads 1 of these genesCLCN7About this report →
- CWC27-Related Retinitis Pigmentosa with Skeletal AnomaliesReads 1 of these genesCWC27About this report →
- DCMA Syndrome (3-Methylglutaconic Aciduria Type 5)Reads 1 of these genesDNAJC19About this report →
- Dopamine Transporter Deficiency SyndromeReads 1 of these genesSLC6A3About this report →
- Dystrophinopathies (Duchenne and Becker Muscular Dystrophy)Reads 1 of these genesDMDAbout this report →
- FDXR-Related Mitochondrial DisorderReads 1 of these genesFDXRAbout this report →
- Fragile X SyndromeReads 1 of these genesFMR1About this report →
- Glutaminase DeficiencyReads 1 of these genesGLSAbout this report →
- KIDINS220-Related Ventriculomegaly and ArthrogryposisReads 1 of these genesKIDINS220About this report →
- Labyrinthine Aplasia, Microtia and Microdontia (LAMM)Reads 1 of these genesFGF3About this report →
- NFIA-Related Brain MalformationsReads 1 of these genesNFIAAbout this report →
- PLEC-Related Epidermolysis Bullosa and Muscular DystrophyReads 1 of these genesPLECAbout this report →
- Purine Nucleoside Phosphorylase DeficiencyReads 1 of these genesPNPAbout this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- Spondyloepiphyseal Dysplasia With Congenital Joint DislocationsReads 1 of these genesCHST3About this report →
- Spondyloepiphyseal Dysplasia, Kondo-Fu TypeReads 1 of these genesMBTPS1About this report →
- SPTBN4-Related Neurodevelopmental DisorderReads 1 of these genesSPTBN4About this report →
- TRAPPC6B-Related Neurodevelopmental DisorderReads 1 of these genesTRAPPC6BAbout this report →
- Wiedemann-Steiner SyndromeReads 1 of these genesKMT2AAbout this report →
- Inherited Neurodegenerative DisordersReads 18 of these genesCACNA1GDNM1LITPR1SELENOISNX14SYNE1About this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 4 of these genesMINPP1CLP1AMPD2TSEN15About this report →
- Lissencephaly Spectrum DisordersReads 4 of these genesAPC2CTNNA2TMTC3TUBA1AAbout this report →
- Myofibrillar MyopathiesReads 3 of these genesKYRYR1TTNAbout this report →
- Cornelia de Lange SyndromeReads 2 of these genesSMC3SMC1AAbout this report →
- Epilepsy (Full Panel)Reads 11 of these genesFRMPD4GLSGRIN1RUBCNCDKL5FTSJ1About this report →
- Glycogen Storage DiseaseReads 3 of these genesPHKA2PHKBPHKG2About this report →
- Leigh SyndromeReads 6 of these genesNUBPLSUCLA2SCO2MECRTRMUDLATAbout this report →
- Dilated CardiomyopathyReads 5 of these genesDMDSYNE1MYH7TAFAZZINTTNAbout this report →
- Hereditary Sideroblastic AnaemiasReads 2 of these genesABCB7TRNT1About this report →
- Cowden Syndrome (PTEN hamartoma tumour syndrome)Reads 1 of these genesPTENAbout this report →
- Encephalopathy due to Mitochondrial and Peroxisomal Fission DefectReads 1 of these genesDNM1LAbout this report →
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 1 of these genesCOL2A1About this report →
- Congenital Disorders of GlycosylationReads 7 of these genesCHST14DSEPGAP3ALG12GALNT2POMT2About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 4 of these genesSLC6A3TAF1MECRPDE10AAbout this report →
- Hereditary Spastic ParaplegiaReads 5 of these genesSELENOITMEM63CKIDINS220KLC2GJC2About this report →
- Monogenic Precocious PubertyReads 1 of these genesDLK1About this report →
- Congenital Muscular DystrophiesReads 3 of these genesPOMT2SELENONFKRPAbout this report →
- OsteopetrosisReads 2 of these genesCLCN7LRP5About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 4 of these genesSNX14SYNE1RUBCNFLVCR1About this report →
- Limb-Girdle Muscular DystrophyReads 3 of these genesTTNPLECFKRPAbout this report →
- Primary Mitochondrial DiseaseReads 6 of these genesNUBPLTAMM41SUCLA2MPV17SCO2TK2About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 2 of these genesCCBE1GJC2About this report →
- Achondrogenesis panelReads 1 of these genesCOL2A1About this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 1 of these genesTRRAPAbout this report →
- Familial Paget Disease of BoneReads 1 of these genesTNFRSF11BAbout this report →
- GalactosemiaReads 1 of these genesGALEAbout this report →
- Polycystic Liver Disease (1 and 2)Reads 1 of these genesLRP5About this report →
- Autosomal Recessive Primary MicrocephalyReads 2 of these genesCITKIF14About this report →
- Distal MyopathiesReads 2 of these genesMYH7TTNAbout this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesNEDD4LAbout this report →
- Sclerosing Bone Dysplasias (High Bone Mass)Reads 1 of these genesLRP5About this report →
- Adams-Oliver SyndromeReads 1 of these genesRBPJAbout this report →
- Loeys-Dietz SyndromeReads 1 of these genesTGFB3About this report →
- Congenital Myasthenic SyndromeReads 2 of these genesLRP4PLECAbout this report →
- VitreoretinopathyReads 2 of these genesCOL2A1LRP5About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 1 of these genesFUCA1About this report →
- Left Ventricular NoncompactionReads 1 of these genesMYH7About this report →
- Hereditary Rickets (Hypophosphatemic and Vitamin D-Dependent)Reads 1 of these genesPHEXAbout this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 2 of these genesCACNA1GITPR1About this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 1 of these genesITPR1About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 1 of these genesCOL2A1About this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 1 of these genesDLATAbout this report →
- Long QT SyndromeReads 1 of these genesCACNA1CAbout this report →
- Marfan Like SyndromesReads 1 of these genesTGFB3About this report →
- Meckel SyndromeReads 1 of these genesKIF14About this report →
- Arrhythmogenic CardiomyopathyReads 1 of these genesCDH2About this report →
- Familial HypomagnesemiaReads 1 of these genesATP1A1About this report →
- Usher SyndromeReads 1 of these genesHARS1About this report →
- LipodystrophyReads 1 of these genesMFN2About this report →
- Severe Congenital NeutropeniaReads 1 of these genesCLPBAbout this report →
- Hereditary Optic NeuropathyReads 1 of these genesDNM1LAbout this report →
- Methylmalonic & Propionic AcidemiaReads 1 of these genesMMABAbout this report →
- Lysosomal Storage DiseaseReads 2 of these genesFUCA1SMPD1About this report →
- Epidermolysis BullosaReads 1 of these genesPLECAbout this report →
- Congenital HypothyroidismReads 1 of these genesTGAbout this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPGAP3About this report →
- Homocystinuria & Cobalamin DisordersReads 1 of these genesMMABAbout this report →
- Nephronophthisis and Senior-Løken SyndromeReads 1 of these genesNPHP1About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 1 of these genesMYT1LAbout this report →
- Syndromic CraniosynostosisReads 1 of these genesRNU12About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesGJC2About this report →
- Spinal Muscular AtrophyReads 1 of these genesTSEN15About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesFIG4About this report →
- Thyroid CancerReads 1 of these genesTGAbout this report →
- Inherited ThrombocytopeniasReads 1 of these genesGALEAbout this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesGJA1About this report →
- Joubert Syndrome And Related DisordersReads 1 of these genesNPHP1About this report →
- Male InfertilityReads 1 of these genesBCORL1About this report →
- Female InfertilityReads 1 of these genesFMR1About this report →
- Other Inborn Errors of ImmunityReads 2 of these genesFNIP1ITPR3About this report →
- Hypertrophic CardiomyopathyReads 1 of these genesMYH7About this report →
- Other Inherited LeukodystrophiesReads 1 of these genesGJC2About this report →
- Retinitis PigmentosaReads 1 of these genesFLVCR1About this report →
Læs de gener, der er knyttet til Delayed motor skills, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test192 gener knyttet til Delayed motor skills
Ændringer i disse gener forårsager sjældne tilstande, hvor Delayed motor skills ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| APC2APC regulator of Wnt signaling pathway 2 | Altid | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Altid | I 1 tilstand |
| BCAS3BCAS3 microtubule associated cell migration factor | Altid | I 1 tilstand |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Altid | I 1 tilstand |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Altid | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| CCNKcyclin K | Altid | I 1 tilstand |
| CDC40cell division cycle 40 | Altid | I 1 tilstand |
| CFAP20cilia and flagella associated protein 20 | Altid | I 1 tilstand |
| CFL2cofilin 2 | Altid | I 1 tilstand |
| CHKAcholine kinase alpha | Altid | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Altid | I 2 tilstande |
| CITcitron rho-interacting serine/threonine kinase | Altid | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Altid | I 2 tilstande |
| CLCN7Cl-/H+ antiporter 7 | Altid | I 1 tilstand |
| CTNNA2catenin alpha 2 | Altid | I 1 tilstand |
| DMDdystrophin | Altid | I 1 tilstand |
| DNASE2deoxyribonuclease 2, lysosomal | Altid | I 1 tilstand |
| DNM1Ldynamin 1L | Altid | I 1 tilstand |
| DPH2diphthamide biosynthesis 2 | Altid | I 1 tilstand |
| DSEdermatan sulfate epimerase | Altid | I 2 tilstande |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altid | I 1 tilstand |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Altid | I 1 tilstand |
| FDXRferredoxin reductase | Altid | I 2 tilstande |
| FGF3fibroblast growth factor 3 | Altid | I 1 tilstand |
| FNIP1folliculin interacting protein 1 | Altid | I 1 tilstand |
| FOXP1forkhead box P1 | Altid | I 1 tilstand |
| FRMPD4FERM and PDZ domain containing 4 | Altid | I 1 tilstand |
| FUCA1alpha-L-fucosidase 1 | Altid | I 1 tilstand |
| GALEUDP-galactose-4-epimerase | Altid | I 1 tilstand |
| GLSglutaminase | Altid | I 1 tilstand |
| HARS1histidyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Altid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altid | I 3 tilstande |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Altid | I 1 tilstand |
| KAT8lysine acetyltransferase 8 | Altid | I 1 tilstand |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Altid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Altid | I 1 tilstand |
| KIAA0753KIAA0753 | Altid | I 1 tilstand |
| LIPT2lipoyl(octanoyl) transferase 2 | Altid | I 1 tilstand |
Vis 152 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| LNPKlunapark, ER junction formation factor | Altid | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Altid | I 1 tilstand |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Altid | I 1 tilstand |
| MED16mediator complex subunit 16 | Altid | I 1 tilstand |
| MESDmesoderm development LRP chaperone | Altid | I 1 tilstand |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Altid | I 1 tilstand |
| MMABmetabolism of cobalamin associated B | Altid | I 1 tilstand |
| MSL2MSL complex subunit 2 | Altid | I 1 tilstand |
| MYT1Lmyelin transcription factor 1 like | Altid | I 1 tilstand |
| NDST1N-deacetylase and N-sulfotransferase 1 | Altid | I 1 tilstand |
| NFIAnuclear factor I A | Altid | I 1 tilstand |
| NPHP1nephrocystin 1 | Altid | I 1 tilstand |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Altid | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Altid | I 1 tilstand |
| PHEXphosphate regulating endopeptidase X-linked | Altid | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Altid | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Altid | I 1 tilstand |
| PNPpurine nucleoside phosphorylase | Altid | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Altid | I 1 tilstand |
| RAB11BRAB11B, member RAS oncogene family | Altid | I 1 tilstand |
| SELENOIselenoprotein I | Altid | I 1 tilstand |
| SLC6A3solute carrier family 6 member 3 | Altid | I 1 tilstand |
| SNX14sorting nexin 14 | Altid | I 2 tilstande |
| SPTBN4spectrin beta, non-erythrocytic 4 | Altid | I 1 tilstand |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Altid | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Altid | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Altid | I 2 tilstande |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Altid | I 1 tilstand |
| TET3tet methylcytosine dioxygenase 3 | Altid | I 1 tilstand |
| TGthyroglobulin | Altid | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Altid | I 1 tilstand |
| TMEM63Ctransmembrane protein 63C | Altid | I 1 tilstand |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Altid | I 1 tilstand |
| TNFRSF11BTNF receptor superfamily member 11b | Altid | I 1 tilstand |
| TNNT1troponin T1, slow skeletal type | Altid | I 2 tilstande |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Altid | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Altid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Altid | I 1 tilstand |
| YARS1tyrosyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Altid | I 1 tilstand |
| BCORL1BCL6 corepressor like 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Meget ofte (80–99 %) | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Meget ofte (80–99 %) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Meget ofte (80–99 %) | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| POGZpogo transposable element derived with ZNF domain | Meget ofte (80–99 %) | I 1 tilstand |
| RUBCNrubicon autophagy regulator | Meget ofte (80–99 %) | I 1 tilstand |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Meget ofte (80–99 %) | I 2 tilstande |
| TIMM50translocase of inner mitochondrial membrane 50 | Meget ofte (80–99 %) | I 1 tilstand |
| UBE2Aubiquitin conjugating enzyme E2 A | Meget ofte (80–99 %) | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ABCB7ATP binding cassette subfamily B member 7 | Ofte (30–79 %) | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| AMPD2adenosine monophosphate deaminase 2 | Ofte (30–79 %) | I 1 tilstand |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| BIN1bridging integrator 1 | Ofte (30–79 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Ofte (30–79 %) | I 2 tilstande |
| CLPBClpB family mitochondrial disaggregase | Ofte (30–79 %) | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Ofte (30–79 %) | I 1 tilstand |
| DNM2dynamin 2 | Ofte (30–79 %) | I 1 tilstand |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| FMR1fragile X messenger ribonucleoprotein 1 | Ofte (30–79 %) | I 1 tilstand |
| FTSJ1FtsJ RNA 2'-O-methyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| HOXA1homeobox A1 | Ofte (30–79 %) | I 1 tilstand |
| KCNK4potassium two pore domain channel subfamily K member 4 | Ofte (30–79 %) | I 1 tilstand |
| KDM4Blysine demethylase 4B | Ofte (30–79 %) | I 1 tilstand |
| KIDINS220kinase D interacting substrate 220 | Ofte (30–79 %) | I 1 tilstand |
| KIF14kinesin family member 14 | Ofte (30–79 %) | I 1 tilstand |
| KLC2kinesin light chain 2 | Ofte (30–79 %) | I 1 tilstand |
| KMT2Alysine methyltransferase 2A | Ofte (30–79 %) | I 1 tilstand |
| KYkyphoscoliosis peptidase | Ofte (30–79 %) | I 1 tilstand |
| MED13mediator complex subunit 13 | Ofte (30–79 %) | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Ofte (30–79 %) | I 1 tilstand |
| MTMR14myotubularin related protein 14 | Ofte (30–79 %) | I 1 tilstand |
| MYF6myogenic factor 6 | Ofte (30–79 %) | I 1 tilstand |
| MYH7myosin heavy chain 7 | Ofte (30–79 %) | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Ofte (30–79 %) | I 1 tilstand |
| OGDHoxoglutarate dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| OTUD6BOTU deubiquitinase 6B | Ofte (30–79 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Ofte (30–79 %) | I 1 tilstand |
| RFC4replication factor C subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| RNU12RNA, U12 small nuclear | Ofte (30–79 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Ofte (30–79 %) | I 2 tilstande |
| SCO2synthesis of cytochrome C oxidase 2 | Ofte (30–79 %) | I 1 tilstand |
| SELENONselenoprotein N | Ofte (30–79 %) | I 1 tilstand |
| SLC9A6solute carrier family 9 member A6 | Ofte (30–79 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Ofte (30–79 %) | I 1 tilstand |
| SPARCsecreted protein acidic and cysteine rich | Ofte (30–79 %) | I 1 tilstand |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Ofte (30–79 %) | I 1 tilstand |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Ofte (30–79 %) | I 1 tilstand |
| TSEN15tRNA splicing endonuclease subunit 15 | Ofte (30–79 %) | I 1 tilstand |
| TTNtitin | Ofte (30–79 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Ofte (30–79 %) | I 2 tilstande |
| WLSWnt ligand secretion mediator | Ofte (30–79 %) | I 1 tilstand |
| ADCY5adenylate cyclase 5 | Nogle gange (5–29 %) | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CDH2cadherin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| COL25A1collagen type XXV alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| CWC27CWC27 spliceosome associated cyclophilin | Nogle gange (5–29 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GJC2gap junction protein gamma 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF21Akinesin family member 21A | Nogle gange (5–29 %) | I 1 tilstand |
| KMT2Clysine methyltransferase 2C | Nogle gange (5–29 %) | I 1 tilstand |
| LARS1leucyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LRP4LDL receptor related protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Nogle gange (5–29 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Nogle gange (5–29 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Nogle gange (5–29 %) | I 1 tilstand |
| NTNG1netrin G1 | Nogle gange (5–29 %) | I 1 tilstand |
| PAK3p21 (RAC1) activated kinase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PHKBphosphorylase kinase regulatory subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PHOX2Apaired like homeobox 2A | Nogle gange (5–29 %) | I 1 tilstand |
| PLECplectin | Nogle gange (5–29 %) | I 1 tilstand |
| PRIM1DNA primase subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Nogle gange (5–29 %) | I 1 tilstand |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Nogle gange (5–29 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Nogle gange (5–29 %) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TUBA1Atubulin alpha 1a | Nogle gange (5–29 %) | I 1 tilstand |
| TUBB2Btubulin beta 2B class IIb | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Sjældent (1–4%) | I 1 tilstand |
| TRMUtRNA mitochondrial 2-thiouridylase | Sjældent (1–4%) | I 1 tilstand |
| BMP1bone morphogenetic protein 1 | Ikke registreret | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Ikke registreret | I 1 tilstand |
| CNOT3CCR4-NOT transcription complex subunit 3 | Ikke registreret | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Ikke registreret | I 1 tilstand |
| COL1A2collagen type I alpha 2 chain | Ikke registreret | I 1 tilstand |
| DLATdihydrolipoamide S-acetyltransferase | Ikke registreret | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ikke registreret | I 1 tilstand |
| FKRPfukutin related protein | Ikke registreret | I 1 tilstand |
| MFN2mitofusin 2 | Ikke registreret | I 1 tilstand |
| PDE10Aphosphodiesterase 10A | Ikke registreret | I 1 tilstand |
| TK2thymidine kinase 2 | Ikke registreret | I 1 tilstand |
| TRNT1tRNA nucleotidyl transferase 1 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.19-9814e911.
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