Požymis
Delayed motor skills
Klinikinis pavadinimas: 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.
Santrauka
- Taip pat vadinama
- 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
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Delayed motor skills. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| APC2APC regulator of Wnt signaling pathway 2 | Visada | 1 ligoje |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Visada | 1 ligoje |
| BCAS3BCAS3 microtubule associated cell migration factor | Visada | 1 ligoje |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Visada | 1 ligoje |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Visada | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Visada | 1 ligoje |
| CCNKcyclin K | Visada | 1 ligoje |
| CDC40cell division cycle 40 | Visada | 1 ligoje |
| CFAP20cilia and flagella associated protein 20 | Visada | 1 ligoje |
| CFL2cofilin 2 | Visada | 1 ligoje |
| CHKAcholine kinase alpha | Visada | 1 ligoje |
| CHST14carbohydrate sulfotransferase 14 | Visada | 2 ligose |
| CITcitron rho-interacting serine/threonine kinase | Visada | 1 ligoje |
| CLCN3Cl-/H+ antiporter 3 | Visada | 2 ligose |
| CLCN7Cl-/H+ antiporter 7 | Visada | 1 ligoje |
| CTNNA2catenin alpha 2 | Visada | 1 ligoje |
| DMDdystrophin | Visada | 1 ligoje |
| DNASE2deoxyribonuclease 2, lysosomal | Visada | 1 ligoje |
| DNM1Ldynamin 1L | Visada | 1 ligoje |
| DPH2diphthamide biosynthesis 2 | Visada | 1 ligoje |
| DSEdermatan sulfate epimerase | Visada | 2 ligose |
| EIF4A2eukaryotic translation initiation factor 4A2 | Visada | 1 ligoje |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Visada | 1 ligoje |
| FDXRferredoxin reductase | Visada | 2 ligose |
| FGF3fibroblast growth factor 3 | Visada | 1 ligoje |
| FNIP1folliculin interacting protein 1 | Visada | 1 ligoje |
| FOXP1forkhead box P1 | Visada | 1 ligoje |
| FRMPD4FERM and PDZ domain containing 4 | Visada | 1 ligoje |
| FUCA1alpha-L-fucosidase 1 | Visada | 1 ligoje |
| GALEUDP-galactose-4-epimerase | Visada | 1 ligoje |
| GLSglutaminase | Visada | 1 ligoje |
| HARS1histidyl-tRNA synthetase 1 | Visada | 1 ligoje |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Visada | 1 ligoje |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Visada | 3 ligose |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Visada | 1 ligoje |
| KAT8lysine acetyltransferase 8 | Visada | 1 ligoje |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Visada | 1 ligoje |
| KDM2Blysine demethylase 2B | Visada | 1 ligoje |
| KIAA0753KIAA0753 | Visada | 1 ligoje |
| LIPT2lipoyl(octanoyl) transferase 2 | Visada | 1 ligoje |
Rodyti dar 152 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| LNPKlunapark, ER junction formation factor | Visada | 1 ligoje |
| LRRC7leucine rich repeat containing 7 | Visada | 1 ligoje |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Visada | 1 ligoje |
| MED16mediator complex subunit 16 | Visada | 1 ligoje |
| MESDmesoderm development LRP chaperone | Visada | 1 ligoje |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Visada | 1 ligoje |
| MMABmetabolism of cobalamin associated B | Visada | 1 ligoje |
| MSL2MSL complex subunit 2 | Visada | 1 ligoje |
| MYT1Lmyelin transcription factor 1 like | Visada | 1 ligoje |
| NDST1N-deacetylase and N-sulfotransferase 1 | Visada | 1 ligoje |
| NFIAnuclear factor I A | Visada | 1 ligoje |
| NPHP1nephrocystin 1 | Visada | 1 ligoje |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Visada | 1 ligoje |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Visada | 1 ligoje |
| PHEXphosphate regulating endopeptidase X-linked | Visada | 1 ligoje |
| PI4KAphosphatidylinositol 4-kinase alpha | Visada | 1 ligoje |
| PLAAphospholipase A2 activating protein | Visada | 1 ligoje |
| PNPpurine nucleoside phosphorylase | Visada | 1 ligoje |
| PPIBpeptidylprolyl isomerase B | Visada | 1 ligoje |
| RAB11BRAB11B, member RAS oncogene family | Visada | 1 ligoje |
| SELENOIselenoprotein I | Visada | 1 ligoje |
| SLC6A3solute carrier family 6 member 3 | Visada | 1 ligoje |
| SNX14sorting nexin 14 | Visada | 2 ligose |
| SPTBN4spectrin beta, non-erythrocytic 4 | Visada | 1 ligoje |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Visada | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Visada | 1 ligoje |
| TAF1TATA-box binding protein associated factor 1 | Visada | 2 ligose |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Visada | 1 ligoje |
| TET3tet methylcytosine dioxygenase 3 | Visada | 1 ligoje |
| TGthyroglobulin | Visada | 1 ligoje |
| TGFB3transforming growth factor beta 3 | Visada | 1 ligoje |
| TMEM63Ctransmembrane protein 63C | Visada | 1 ligoje |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Visada | 1 ligoje |
| TNFRSF11BTNF receptor superfamily member 11b | Visada | 1 ligoje |
| TNNT1troponin T1, slow skeletal type | Visada | 2 ligose |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Visada | 1 ligoje |
| TRRAPtransformation/transcription domain associated protein | Visada | 1 ligoje |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Visada | 1 ligoje |
| YARS1tyrosyl-tRNA synthetase 1 | Visada | 1 ligoje |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Visada | 1 ligoje |
| BCORL1BCL6 corepressor like 1 | Labai dažnai (80–99%) | 1 ligoje |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Labai dažnai (80–99%) | 1 ligoje |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| CNTNAP2contactin associated protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| CRELD1CRELD disulfide isomerase 1 | Labai dažnai (80–99%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Labai dažnai (80–99%) | 1 ligoje |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| MORC2MORC family CW-type zinc finger 2 | Labai dažnai (80–99%) | 1 ligoje |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Labai dažnai (80–99%) | 2 ligose |
| POGZpogo transposable element derived with ZNF domain | Labai dažnai (80–99%) | 1 ligoje |
| RUBCNrubicon autophagy regulator | Labai dažnai (80–99%) | 1 ligoje |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Labai dažnai (80–99%) | 2 ligose |
| TIMM50translocase of inner mitochondrial membrane 50 | Labai dažnai (80–99%) | 1 ligoje |
| UBE2Aubiquitin conjugating enzyme E2 A | Labai dažnai (80–99%) | 1 ligoje |
| WSB2WD repeat and SOCS box containing 2 | Labai dažnai (80–99%) | 1 ligoje |
| ABCB7ATP binding cassette subfamily B member 7 | Dažnai (30–79%) | 1 ligoje |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Dažnai (30–79%) | 1 ligoje |
| AMPD2adenosine monophosphate deaminase 2 | Dažnai (30–79%) | 1 ligoje |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Dažnai (30–79%) | 1 ligoje |
| BIN1bridging integrator 1 | Dažnai (30–79%) | 1 ligoje |
| CDKL5cyclin dependent kinase like 5 | Dažnai (30–79%) | 2 ligose |
| CLPBClpB family mitochondrial disaggregase | Dažnai (30–79%) | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Dažnai (30–79%) | 1 ligoje |
| DNM2dynamin 2 | Dažnai (30–79%) | 1 ligoje |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| FMR1fragile X messenger ribonucleoprotein 1 | Dažnai (30–79%) | 1 ligoje |
| FTSJ1FtsJ RNA 2'-O-methyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| GJA1gap junction protein alpha 1 | Dažnai (30–79%) | 1 ligoje |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Dažnai (30–79%) | 1 ligoje |
| HOXA1homeobox A1 | Dažnai (30–79%) | 1 ligoje |
| KCNK4potassium two pore domain channel subfamily K member 4 | Dažnai (30–79%) | 1 ligoje |
| KDM4Blysine demethylase 4B | Dažnai (30–79%) | 1 ligoje |
| KIDINS220kinase D interacting substrate 220 | Dažnai (30–79%) | 1 ligoje |
| KIF14kinesin family member 14 | Dažnai (30–79%) | 1 ligoje |
| KLC2kinesin light chain 2 | Dažnai (30–79%) | 1 ligoje |
| KMT2Alysine methyltransferase 2A | Dažnai (30–79%) | 1 ligoje |
| KYkyphoscoliosis peptidase | Dažnai (30–79%) | 1 ligoje |
| MED13mediator complex subunit 13 | Dažnai (30–79%) | 1 ligoje |
| MPV17mitochondrial inner membrane protein MPV17 | Dažnai (30–79%) | 1 ligoje |
| MTMR14myotubularin related protein 14 | Dažnai (30–79%) | 1 ligoje |
| MYF6myogenic factor 6 | Dažnai (30–79%) | 1 ligoje |
| MYH7myosin heavy chain 7 | Dažnai (30–79%) | 1 ligoje |
| NONOnon-POU domain containing octamer binding | Dažnai (30–79%) | 1 ligoje |
| OGDHoxoglutarate dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| OTUD6BOTU deubiquitinase 6B | Dažnai (30–79%) | 1 ligoje |
| POMT2protein O-mannosyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Dažnai (30–79%) | 1 ligoje |
| RFC4replication factor C subunit 4 | Dažnai (30–79%) | 1 ligoje |
| RNU12RNA, U12 small nuclear | Dažnai (30–79%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Dažnai (30–79%) | 2 ligose |
| SCO2synthesis of cytochrome C oxidase 2 | Dažnai (30–79%) | 1 ligoje |
| SELENONselenoprotein N | Dažnai (30–79%) | 1 ligoje |
| SLC9A6solute carrier family 9 member A6 | Dažnai (30–79%) | 1 ligoje |
| SMC3structural maintenance of chromosomes 3 | Dažnai (30–79%) | 1 ligoje |
| SPARCsecreted protein acidic and cysteine rich | Dažnai (30–79%) | 1 ligoje |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Dažnai (30–79%) | 1 ligoje |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Dažnai (30–79%) | 1 ligoje |
| TSEN15tRNA splicing endonuclease subunit 15 | Dažnai (30–79%) | 1 ligoje |
| TTNtitin | Dažnai (30–79%) | 1 ligoje |
| TUBB3tubulin beta 3 class III | Dažnai (30–79%) | 2 ligose |
| WLSWnt ligand secretion mediator | Dažnai (30–79%) | 1 ligoje |
| ADCY5adenylate cyclase 5 | Kartais (5–29%) | 1 ligoje |
| CCBE1collagen and calcium binding EGF domains 1 | Kartais (5–29%) | 1 ligoje |
| CDH2cadherin 2 | Kartais (5–29%) | 1 ligoje |
| COL25A1collagen type XXV alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| CWC27CWC27 spliceosome associated cyclophilin | Kartais (5–29%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| EHMT1euchromatic histone lysine methyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| FLVCR1FLVCR choline and heme transporter 1 | Kartais (5–29%) | 1 ligoje |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Kartais (5–29%) | 1 ligoje |
| GJC2gap junction protein gamma 2 | Kartais (5–29%) | 1 ligoje |
| KIF21Akinesin family member 21A | Kartais (5–29%) | 1 ligoje |
| KMT2Clysine methyltransferase 2C | Kartais (5–29%) | 1 ligoje |
| LARS1leucyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| LRP4LDL receptor related protein 4 | Kartais (5–29%) | 1 ligoje |
| LRP5LDL receptor related protein 5 | Kartais (5–29%) | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Kartais (5–29%) | 1 ligoje |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Kartais (5–29%) | 1 ligoje |
| MEG3maternally expressed 3 | Kartais (5–29%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Kartais (5–29%) | 1 ligoje |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Kartais (5–29%) | 1 ligoje |
| NTNG1netrin G1 | Kartais (5–29%) | 1 ligoje |
| PAK3p21 (RAC1) activated kinase 3 | Kartais (5–29%) | 1 ligoje |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| PHKBphosphorylase kinase regulatory subunit beta | Kartais (5–29%) | 1 ligoje |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Kartais (5–29%) | 1 ligoje |
| PHOX2Apaired like homeobox 2A | Kartais (5–29%) | 1 ligoje |
| PLECplectin | Kartais (5–29%) | 1 ligoje |
| PRIM1DNA primase subunit 1 | Kartais (5–29%) | 1 ligoje |
| PTENphosphatase and tensin homolog | Kartais (5–29%) | 1 ligoje |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Kartais (5–29%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Kartais (5–29%) | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Kartais (5–29%) | 1 ligoje |
| SMPD1sphingomyelin phosphodiesterase 1 | Kartais (5–29%) | 1 ligoje |
| TUBA1Atubulin alpha 1a | Kartais (5–29%) | 1 ligoje |
| TUBB2Btubulin beta 2B class IIb | Kartais (5–29%) | 1 ligoje |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Retai (1–4 %) | 1 ligoje |
| TRMUtRNA mitochondrial 2-thiouridylase | Retai (1–4 %) | 1 ligoje |
| BMP1bone morphogenetic protein 1 | Neužfiksuota | 1 ligoje |
| CHST3carbohydrate sulfotransferase 3 | Neužfiksuota | 1 ligoje |
| CNOT3CCR4-NOT transcription complex subunit 3 | Neužfiksuota | 1 ligoje |
| COL1A1collagen type I alpha 1 chain | Neužfiksuota | 1 ligoje |
| COL1A2collagen type I alpha 2 chain | Neužfiksuota | 1 ligoje |
| DLATdihydrolipoamide S-acetyltransferase | Neužfiksuota | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Neužfiksuota | 1 ligoje |
| FKRPfukutin related protein | Neužfiksuota | 1 ligoje |
| MFN2mitofusin 2 | Neužfiksuota | 1 ligoje |
| PDE10Aphosphodiesterase 10A | Neužfiksuota | 1 ligoje |
| TK2thymidine kinase 2 | Neužfiksuota | 1 ligoje |
| TRNT1tRNA nucleotidyl transferase 1 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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