Piirre
Delayed motor skills
Kliininen nimi: 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.
Yhteenveto
- Tunnetaan myös nimellä
- 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
- Elimistön järjestelmä
- Abnormality of the nervous system
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
Read the genes linked to Delayed motor skills, and the rest of your genome, with one test.
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Tilaa Genome Test192 geeniä, jotka liittyvät piirteeseen Delayed motor skills
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Delayed motor skills esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| APC2APC regulator of Wnt signaling pathway 2 | Aina | 1 sairaudessa |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Aina | 1 sairaudessa |
| BCAS3BCAS3 microtubule associated cell migration factor | Aina | 1 sairaudessa |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Aina | 1 sairaudessa |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Aina | 1 sairaudessa |
| CARS1cysteinyl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| CCNKcyclin K | Aina | 1 sairaudessa |
| CDC40cell division cycle 40 | Aina | 1 sairaudessa |
| CFAP20cilia and flagella associated protein 20 | Aina | 1 sairaudessa |
| CFL2cofilin 2 | Aina | 1 sairaudessa |
| CHKAcholine kinase alpha | Aina | 1 sairaudessa |
| CHST14carbohydrate sulfotransferase 14 | Aina | 2 sairaudessa |
| CITcitron rho-interacting serine/threonine kinase | Aina | 1 sairaudessa |
| CLCN3Cl-/H+ antiporter 3 | Aina | 2 sairaudessa |
| CLCN7Cl-/H+ antiporter 7 | Aina | 1 sairaudessa |
| CTNNA2catenin alpha 2 | Aina | 1 sairaudessa |
| DMDdystrophin | Aina | 1 sairaudessa |
| DNASE2deoxyribonuclease 2, lysosomal | Aina | 1 sairaudessa |
| DNM1Ldynamin 1L | Aina | 1 sairaudessa |
| DPH2diphthamide biosynthesis 2 | Aina | 1 sairaudessa |
| DSEdermatan sulfate epimerase | Aina | 2 sairaudessa |
| EIF4A2eukaryotic translation initiation factor 4A2 | Aina | 1 sairaudessa |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Aina | 1 sairaudessa |
| FDXRferredoxin reductase | Aina | 2 sairaudessa |
| FGF3fibroblast growth factor 3 | Aina | 1 sairaudessa |
| FNIP1folliculin interacting protein 1 | Aina | 1 sairaudessa |
| FOXP1forkhead box P1 | Aina | 1 sairaudessa |
| FRMPD4FERM and PDZ domain containing 4 | Aina | 1 sairaudessa |
| FUCA1alpha-L-fucosidase 1 | Aina | 1 sairaudessa |
| GALEUDP-galactose-4-epimerase | Aina | 1 sairaudessa |
| GLSglutaminase | Aina | 1 sairaudessa |
| HARS1histidyl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Aina | 1 sairaudessa |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Aina | 3 sairaudessa |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Aina | 1 sairaudessa |
| KAT8lysine acetyltransferase 8 | Aina | 1 sairaudessa |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Aina | 1 sairaudessa |
| KDM2Blysine demethylase 2B | Aina | 1 sairaudessa |
| KIAA0753KIAA0753 | Aina | 1 sairaudessa |
| LIPT2lipoyl(octanoyl) transferase 2 | Aina | 1 sairaudessa |
Näytä 152 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| LNPKlunapark, ER junction formation factor | Aina | 1 sairaudessa |
| LRRC7leucine rich repeat containing 7 | Aina | 1 sairaudessa |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Aina | 1 sairaudessa |
| MED16mediator complex subunit 16 | Aina | 1 sairaudessa |
| MESDmesoderm development LRP chaperone | Aina | 1 sairaudessa |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Aina | 1 sairaudessa |
| MMABmetabolism of cobalamin associated B | Aina | 1 sairaudessa |
| MSL2MSL complex subunit 2 | Aina | 1 sairaudessa |
| MYT1Lmyelin transcription factor 1 like | Aina | 1 sairaudessa |
| NDST1N-deacetylase and N-sulfotransferase 1 | Aina | 1 sairaudessa |
| NFIAnuclear factor I A | Aina | 1 sairaudessa |
| NPHP1nephrocystin 1 | Aina | 1 sairaudessa |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Aina | 1 sairaudessa |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Aina | 1 sairaudessa |
| PHEXphosphate regulating endopeptidase X-linked | Aina | 1 sairaudessa |
| PI4KAphosphatidylinositol 4-kinase alpha | Aina | 1 sairaudessa |
| PLAAphospholipase A2 activating protein | Aina | 1 sairaudessa |
| PNPpurine nucleoside phosphorylase | Aina | 1 sairaudessa |
| PPIBpeptidylprolyl isomerase B | Aina | 1 sairaudessa |
| RAB11BRAB11B, member RAS oncogene family | Aina | 1 sairaudessa |
| SELENOIselenoprotein I | Aina | 1 sairaudessa |
| SLC6A3solute carrier family 6 member 3 | Aina | 1 sairaudessa |
| SNX14sorting nexin 14 | Aina | 2 sairaudessa |
| SPTBN4spectrin beta, non-erythrocytic 4 | Aina | 1 sairaudessa |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Aina | 1 sairaudessa |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Aina | 1 sairaudessa |
| TAF1TATA-box binding protein associated factor 1 | Aina | 2 sairaudessa |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Aina | 1 sairaudessa |
| TET3tet methylcytosine dioxygenase 3 | Aina | 1 sairaudessa |
| TGthyroglobulin | Aina | 1 sairaudessa |
| TGFB3transforming growth factor beta 3 | Aina | 1 sairaudessa |
| TMEM63Ctransmembrane protein 63C | Aina | 1 sairaudessa |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Aina | 1 sairaudessa |
| TNFRSF11BTNF receptor superfamily member 11b | Aina | 1 sairaudessa |
| TNNT1troponin T1, slow skeletal type | Aina | 2 sairaudessa |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Aina | 1 sairaudessa |
| TRRAPtransformation/transcription domain associated protein | Aina | 1 sairaudessa |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Aina | 1 sairaudessa |
| YARS1tyrosyl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Aina | 1 sairaudessa |
| BCORL1BCL6 corepressor like 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Hyvin usein (80–99%) | 1 sairaudessa |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CNTNAP2contactin associated protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| CRELD1CRELD disulfide isomerase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| FIG4FIG4 phosphoinositide 5-phosphatase | Hyvin usein (80–99%) | 1 sairaudessa |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| MORC2MORC family CW-type zinc finger 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| POGZpogo transposable element derived with ZNF domain | Hyvin usein (80–99%) | 1 sairaudessa |
| RUBCNrubicon autophagy regulator | Hyvin usein (80–99%) | 1 sairaudessa |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Hyvin usein (80–99%) | 2 sairaudessa |
| TIMM50translocase of inner mitochondrial membrane 50 | Hyvin usein (80–99%) | 1 sairaudessa |
| UBE2Aubiquitin conjugating enzyme E2 A | Hyvin usein (80–99%) | 1 sairaudessa |
| WSB2WD repeat and SOCS box containing 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| ABCB7ATP binding cassette subfamily B member 7 | Usein (30–79%) | 1 sairaudessa |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Usein (30–79%) | 1 sairaudessa |
| AMPD2adenosine monophosphate deaminase 2 | Usein (30–79%) | 1 sairaudessa |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Usein (30–79%) | 1 sairaudessa |
| BIN1bridging integrator 1 | Usein (30–79%) | 1 sairaudessa |
| CDKL5cyclin dependent kinase like 5 | Usein (30–79%) | 2 sairaudessa |
| CLPBClpB family mitochondrial disaggregase | Usein (30–79%) | 1 sairaudessa |
| COL2A1collagen type II alpha 1 chain | Usein (30–79%) | 1 sairaudessa |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Usein (30–79%) | 1 sairaudessa |
| DNM2dynamin 2 | Usein (30–79%) | 1 sairaudessa |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Usein (30–79%) | 1 sairaudessa |
| FMR1fragile X messenger ribonucleoprotein 1 | Usein (30–79%) | 1 sairaudessa |
| FTSJ1FtsJ RNA 2'-O-methyltransferase 1 | Usein (30–79%) | 1 sairaudessa |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Usein (30–79%) | 1 sairaudessa |
| GJA1gap junction protein alpha 1 | Usein (30–79%) | 1 sairaudessa |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Usein (30–79%) | 1 sairaudessa |
| HOXA1homeobox A1 | Usein (30–79%) | 1 sairaudessa |
| KCNK4potassium two pore domain channel subfamily K member 4 | Usein (30–79%) | 1 sairaudessa |
| KDM4Blysine demethylase 4B | Usein (30–79%) | 1 sairaudessa |
| KIDINS220kinase D interacting substrate 220 | Usein (30–79%) | 1 sairaudessa |
| KIF14kinesin family member 14 | Usein (30–79%) | 1 sairaudessa |
| KLC2kinesin light chain 2 | Usein (30–79%) | 1 sairaudessa |
| KMT2Alysine methyltransferase 2A | Usein (30–79%) | 1 sairaudessa |
| KYkyphoscoliosis peptidase | Usein (30–79%) | 1 sairaudessa |
| MED13mediator complex subunit 13 | Usein (30–79%) | 1 sairaudessa |
| MPV17mitochondrial inner membrane protein MPV17 | Usein (30–79%) | 1 sairaudessa |
| MTMR14myotubularin related protein 14 | Usein (30–79%) | 1 sairaudessa |
| MYF6myogenic factor 6 | Usein (30–79%) | 1 sairaudessa |
| MYH7myosin heavy chain 7 | Usein (30–79%) | 1 sairaudessa |
| NONOnon-POU domain containing octamer binding | Usein (30–79%) | 1 sairaudessa |
| OGDHoxoglutarate dehydrogenase | Usein (30–79%) | 1 sairaudessa |
| OTUD6BOTU deubiquitinase 6B | Usein (30–79%) | 1 sairaudessa |
| POMT2protein O-mannosyltransferase 2 | Usein (30–79%) | 1 sairaudessa |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Usein (30–79%) | 1 sairaudessa |
| RFC4replication factor C subunit 4 | Usein (30–79%) | 1 sairaudessa |
| RNU12RNA, U12 small nuclear | Usein (30–79%) | 1 sairaudessa |
| RYR1ryanodine receptor 1 | Usein (30–79%) | 2 sairaudessa |
| SCO2synthesis of cytochrome C oxidase 2 | Usein (30–79%) | 1 sairaudessa |
| SELENONselenoprotein N | Usein (30–79%) | 1 sairaudessa |
| SLC9A6solute carrier family 9 member A6 | Usein (30–79%) | 1 sairaudessa |
| SMC3structural maintenance of chromosomes 3 | Usein (30–79%) | 1 sairaudessa |
| SPARCsecreted protein acidic and cysteine rich | Usein (30–79%) | 1 sairaudessa |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Usein (30–79%) | 1 sairaudessa |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Usein (30–79%) | 1 sairaudessa |
| TSEN15tRNA splicing endonuclease subunit 15 | Usein (30–79%) | 1 sairaudessa |
| TTNtitin | Usein (30–79%) | 1 sairaudessa |
| TUBB3tubulin beta 3 class III | Usein (30–79%) | 2 sairaudessa |
| WLSWnt ligand secretion mediator | Usein (30–79%) | 1 sairaudessa |
| ADCY5adenylate cyclase 5 | Joskus (5–29%) | 1 sairaudessa |
| CCBE1collagen and calcium binding EGF domains 1 | Joskus (5–29%) | 1 sairaudessa |
| CDH2cadherin 2 | Joskus (5–29%) | 1 sairaudessa |
| COL25A1collagen type XXV alpha 1 chain | Joskus (5–29%) | 1 sairaudessa |
| CWC27CWC27 spliceosome associated cyclophilin | Joskus (5–29%) | 1 sairaudessa |
| DLK1delta like non-canonical Notch ligand 1 | Joskus (5–29%) | 1 sairaudessa |
| EHMT1euchromatic histone lysine methyltransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| FLVCR1FLVCR choline and heme transporter 1 | Joskus (5–29%) | 1 sairaudessa |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| GJC2gap junction protein gamma 2 | Joskus (5–29%) | 1 sairaudessa |
| KIF21Akinesin family member 21A | Joskus (5–29%) | 1 sairaudessa |
| KMT2Clysine methyltransferase 2C | Joskus (5–29%) | 1 sairaudessa |
| LARS1leucyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| LRP4LDL receptor related protein 4 | Joskus (5–29%) | 1 sairaudessa |
| LRP5LDL receptor related protein 5 | Joskus (5–29%) | 1 sairaudessa |
| MECP2methyl-CpG binding protein 2 | Joskus (5–29%) | 1 sairaudessa |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Joskus (5–29%) | 1 sairaudessa |
| MEG3maternally expressed 3 | Joskus (5–29%) | 1 sairaudessa |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Joskus (5–29%) | 1 sairaudessa |
| NTNG1netrin G1 | Joskus (5–29%) | 1 sairaudessa |
| PAK3p21 (RAC1) activated kinase 3 | Joskus (5–29%) | 1 sairaudessa |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Joskus (5–29%) | 1 sairaudessa |
| PHKBphosphorylase kinase regulatory subunit beta | Joskus (5–29%) | 1 sairaudessa |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Joskus (5–29%) | 1 sairaudessa |
| PHOX2Apaired like homeobox 2A | Joskus (5–29%) | 1 sairaudessa |
| PLECplectin | Joskus (5–29%) | 1 sairaudessa |
| PRIM1DNA primase subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| PTENphosphatase and tensin homolog | Joskus (5–29%) | 1 sairaudessa |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Joskus (5–29%) | 1 sairaudessa |
| RTL1retrotransposon Gag like 1 | Joskus (5–29%) | 1 sairaudessa |
| SMC1Astructural maintenance of chromosomes 1A | Joskus (5–29%) | 1 sairaudessa |
| SMPD1sphingomyelin phosphodiesterase 1 | Joskus (5–29%) | 1 sairaudessa |
| TUBA1Atubulin alpha 1a | Joskus (5–29%) | 1 sairaudessa |
| TUBB2Btubulin beta 2B class IIb | Joskus (5–29%) | 1 sairaudessa |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Harvinainen (1–4 %) | 1 sairaudessa |
| TRMUtRNA mitochondrial 2-thiouridylase | Harvinainen (1–4 %) | 1 sairaudessa |
| BMP1bone morphogenetic protein 1 | Ei kirjattu | 1 sairaudessa |
| CHST3carbohydrate sulfotransferase 3 | Ei kirjattu | 1 sairaudessa |
| CNOT3CCR4-NOT transcription complex subunit 3 | Ei kirjattu | 1 sairaudessa |
| COL1A1collagen type I alpha 1 chain | Ei kirjattu | 1 sairaudessa |
| COL1A2collagen type I alpha 2 chain | Ei kirjattu | 1 sairaudessa |
| DLATdihydrolipoamide S-acetyltransferase | Ei kirjattu | 1 sairaudessa |
| EP300EP300 lysine acetyltransferase | Ei kirjattu | 1 sairaudessa |
| FKRPfukutin related protein | Ei kirjattu | 1 sairaudessa |
| MFN2mitofusin 2 | Ei kirjattu | 1 sairaudessa |
| PDE10Aphosphodiesterase 10A | Ei kirjattu | 1 sairaudessa |
| TK2thymidine kinase 2 | Ei kirjattu | 1 sairaudessa |
| TRNT1tRNA nucleotidyl transferase 1 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
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Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
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Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa