Egenskap
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.
Sammendrag
- Også kalt
- 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
- Kroppssystem
- Abnormality of the nervous system
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Få mitt Genome Test192 gener knyttet til Delayed motor skills
Endringer i disse genene forårsaker sjeldne tilstander der Delayed motor skills 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 |
|---|---|---|
| APC2APC regulator of Wnt signaling pathway 2 | Alltid | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Alltid | I 1 tilstand |
| BCAS3BCAS3 microtubule associated cell migration factor | Alltid | I 1 tilstand |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Alltid | I 1 tilstand |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Alltid | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| CCNKcyclin K | Alltid | I 1 tilstand |
| CDC40cell division cycle 40 | Alltid | I 1 tilstand |
| CFAP20cilia and flagella associated protein 20 | Alltid | I 1 tilstand |
| CFL2cofilin 2 | Alltid | I 1 tilstand |
| CHKAcholine kinase alpha | Alltid | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Alltid | I 2 tilstander |
| CITcitron rho-interacting serine/threonine kinase | Alltid | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Alltid | I 2 tilstander |
| CLCN7Cl-/H+ antiporter 7 | Alltid | I 1 tilstand |
| CTNNA2catenin alpha 2 | Alltid | I 1 tilstand |
| DMDdystrophin | Alltid | I 1 tilstand |
| DNASE2deoxyribonuclease 2, lysosomal | Alltid | I 1 tilstand |
| DNM1Ldynamin 1L | Alltid | I 1 tilstand |
| DPH2diphthamide biosynthesis 2 | Alltid | I 1 tilstand |
| DSEdermatan sulfate epimerase | Alltid | I 2 tilstander |
| EIF4A2eukaryotic translation initiation factor 4A2 | Alltid | I 1 tilstand |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Alltid | I 1 tilstand |
| FDXRferredoxin reductase | Alltid | I 2 tilstander |
| FGF3fibroblast growth factor 3 | Alltid | I 1 tilstand |
| FNIP1folliculin interacting protein 1 | Alltid | I 1 tilstand |
| FOXP1forkhead box P1 | Alltid | I 1 tilstand |
| FRMPD4FERM and PDZ domain containing 4 | Alltid | I 1 tilstand |
| FUCA1alpha-L-fucosidase 1 | Alltid | I 1 tilstand |
| GALEUDP-galactose-4-epimerase | Alltid | I 1 tilstand |
| GLSglutaminase | Alltid | I 1 tilstand |
| HARS1histidyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Alltid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alltid | I 3 tilstander |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Alltid | I 1 tilstand |
| KAT8lysine acetyltransferase 8 | Alltid | I 1 tilstand |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Alltid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Alltid | I 1 tilstand |
| KIAA0753KIAA0753 | Alltid | I 1 tilstand |
| LIPT2lipoyl(octanoyl) transferase 2 | Alltid | I 1 tilstand |
Vis 152 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| LNPKlunapark, ER junction formation factor | Alltid | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Alltid | I 1 tilstand |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Alltid | I 1 tilstand |
| MED16mediator complex subunit 16 | Alltid | I 1 tilstand |
| MESDmesoderm development LRP chaperone | Alltid | I 1 tilstand |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Alltid | I 1 tilstand |
| MMABmetabolism of cobalamin associated B | Alltid | I 1 tilstand |
| MSL2MSL complex subunit 2 | Alltid | I 1 tilstand |
| MYT1Lmyelin transcription factor 1 like | Alltid | I 1 tilstand |
| NDST1N-deacetylase and N-sulfotransferase 1 | Alltid | I 1 tilstand |
| NFIAnuclear factor I A | Alltid | I 1 tilstand |
| NPHP1nephrocystin 1 | Alltid | I 1 tilstand |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Alltid | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Alltid | I 1 tilstand |
| PHEXphosphate regulating endopeptidase X-linked | Alltid | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Alltid | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Alltid | I 1 tilstand |
| PNPpurine nucleoside phosphorylase | Alltid | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Alltid | I 1 tilstand |
| RAB11BRAB11B, member RAS oncogene family | Alltid | I 1 tilstand |
| SELENOIselenoprotein I | Alltid | I 1 tilstand |
| SLC6A3solute carrier family 6 member 3 | Alltid | I 1 tilstand |
| SNX14sorting nexin 14 | Alltid | I 2 tilstander |
| SPTBN4spectrin beta, non-erythrocytic 4 | Alltid | I 1 tilstand |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Alltid | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Alltid | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Alltid | I 2 tilstander |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Alltid | I 1 tilstand |
| TET3tet methylcytosine dioxygenase 3 | Alltid | I 1 tilstand |
| TGthyroglobulin | Alltid | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Alltid | I 1 tilstand |
| TMEM63Ctransmembrane protein 63C | Alltid | I 1 tilstand |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Alltid | I 1 tilstand |
| TNFRSF11BTNF receptor superfamily member 11b | Alltid | I 1 tilstand |
| TNNT1troponin T1, slow skeletal type | Alltid | I 2 tilstander |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Alltid | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Alltid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alltid | I 1 tilstand |
| YARS1tyrosyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Alltid | I 1 tilstand |
| BCORL1BCL6 corepressor like 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Svært ofte (80–99 %) | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Svært ofte (80–99 %) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| POGZpogo transposable element derived with ZNF domain | Svært ofte (80–99 %) | I 1 tilstand |
| RUBCNrubicon autophagy regulator | Svært ofte (80–99 %) | I 1 tilstand |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Svært ofte (80–99 %) | I 2 tilstander |
| TIMM50translocase of inner mitochondrial membrane 50 | Svært ofte (80–99 %) | I 1 tilstand |
| UBE2Aubiquitin conjugating enzyme E2 A | Svært ofte (80–99 %) | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Svært 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| WLSWnt ligand secretion mediator | Ofte (30–79 %) | I 1 tilstand |
| ADCY5adenylate cyclase 5 | Noen ganger (5–29 %) | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CDH2cadherin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| COL25A1collagen type XXV alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| CWC27CWC27 spliceosome associated cyclophilin | Noen ganger (5–29 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GJC2gap junction protein gamma 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF21Akinesin family member 21A | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Clysine methyltransferase 2C | Noen ganger (5–29 %) | I 1 tilstand |
| LARS1leucyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LRP4LDL receptor related protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Noen ganger (5–29 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Noen ganger (5–29 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Noen ganger (5–29 %) | I 1 tilstand |
| NTNG1netrin G1 | Noen ganger (5–29 %) | I 1 tilstand |
| PAK3p21 (RAC1) activated kinase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PHKBphosphorylase kinase regulatory subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PHOX2Apaired like homeobox 2A | Noen ganger (5–29 %) | I 1 tilstand |
| PLECplectin | Noen ganger (5–29 %) | I 1 tilstand |
| PRIM1DNA primase subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Noen ganger (5–29 %) | I 1 tilstand |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Noen ganger (5–29 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Noen ganger (5–29 %) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TUBA1Atubulin alpha 1a | Noen ganger (5–29 %) | I 1 tilstand |
| TUBB2Btubulin beta 2B class IIb | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Sjelden (1–4%) | I 1 tilstand |
| TRMUtRNA mitochondrial 2-thiouridylase | Sjelden (1–4%) | I 1 tilstand |
| BMP1bone morphogenetic protein 1 | Ikke registrert | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Ikke registrert | I 1 tilstand |
| CNOT3CCR4-NOT transcription complex subunit 3 | Ikke registrert | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Ikke registrert | I 1 tilstand |
| COL1A2collagen type I alpha 2 chain | Ikke registrert | I 1 tilstand |
| DLATdihydrolipoamide S-acetyltransferase | Ikke registrert | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ikke registrert | I 1 tilstand |
| FKRPfukutin related protein | Ikke registrert | I 1 tilstand |
| MFN2mitofusin 2 | Ikke registrert | I 1 tilstand |
| PDE10Aphosphodiesterase 10A | Ikke registrert | I 1 tilstand |
| TK2thymidine kinase 2 | Ikke registrert | I 1 tilstand |
| TRNT1tRNA nucleotidyl transferase 1 | 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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- Datautgave 2026.10.16-c6eea6bf.
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