Cecha
Poor head control
Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months.
Podsumowanie
- Znana także jako
- Delay in head control, Delay in head righting, Infant head lag
- Układ organizmu
- Abnormality of the musculoskeletal system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
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Zamawiam Genome Test251 genów powiązanych z Poor head control
Zmiany w tych genach powodują rzadkie choroby, w których występuje Poor head control. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ACTA1actin alpha 1, skeletal muscle | Zawsze | W 3 chorobach |
| ADCY5adenylate cyclase 5 | Zawsze | W 1 chorobie |
| AHCYadenosylhomocysteinase | Zawsze | W 2 chorobach |
| AHDC1AT-hook DNA binding motif containing 1 | Zawsze | W 1 chorobie |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Zawsze | W 1 chorobie |
| ARXaristaless related homeobox | Zawsze | W 2 chorobach |
| ATP7AATPase copper transporting alpha | Zawsze | W 1 chorobie |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Zawsze | W 2 chorobach |
| CAMLGcalcium modulating ligand | Zawsze | W 1 chorobie |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Zawsze | W 1 chorobie |
| CHRNDcholinergic receptor nicotinic delta subunit | Zawsze | W 1 chorobie |
| COG8component of oligomeric golgi complex 8 | Zawsze | W 2 chorobach |
| COL4A2collagen type IV alpha 2 chain | Zawsze | W 1 chorobie |
| COX18cytochrome c oxidase assembly factor COX18 | Zawsze | W 1 chorobie |
| DAG1dystroglycan 1 | Zawsze | W 2 chorobach |
| DAGLAdiacylglycerol lipase alpha | Zawsze | W 1 chorobie |
| DNM1dynamin 1 | Zawsze | W 2 chorobach |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Zawsze | W 1 chorobie |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Zawsze | W 1 chorobie |
| ELP2elongator acetyltransferase complex subunit 2 | Zawsze | W 1 chorobie |
| ESAMendothelial cell adhesion molecule | Zawsze | W 1 chorobie |
| FBXL4F-box and leucine rich repeat protein 4 | Zawsze | W 1 chorobie |
| FDXRferredoxin reductase | Zawsze | W 1 chorobie |
| FKBP14FKBP prolyl isomerase 14 | Zawsze | W 2 chorobach |
| FKRPfukutin related protein | Zawsze | W 1 chorobie |
| GJC2gap junction protein gamma 2 | Zawsze | W 1 chorobie |
| GPHNgephyrin | Zawsze | W 1 chorobie |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Zawsze | W 2 chorobach |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Zawsze | W 1 chorobie |
| HSPD1heat shock protein family D (Hsp60) member 1 | Zawsze | W 1 chorobie |
| IFT140intraflagellar transport 140 | Zawsze | W 1 chorobie |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Zawsze | W 1 chorobie |
| INPP5Einositol polyphosphate-5-phosphatase E | Zawsze | W 1 chorobie |
| IREB2iron responsive element binding protein 2 | Zawsze | W 1 chorobie |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Zawsze | W 2 chorobach |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Zawsze | W 2 chorobach |
| LGI4leucine rich repeat LGI family member 4 | Zawsze | W 1 chorobie |
| LMNAlamin A/C | Zawsze | W 2 chorobach |
| MAN2B2mannosidase alpha class 2B member 2 | Zawsze | W 1 chorobie |
| MDH2malate dehydrogenase 2 | Zawsze | W 1 chorobie |
Pokaż jeszcze 211 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| MED16mediator complex subunit 16 | Zawsze | W 1 chorobie |
| MEGF10multiple EGF like domains 10 | Zawsze | W 1 chorobie |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Zawsze | W 1 chorobie |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Zawsze | W 1 chorobie |
| MRPS25mitochondrial ribosomal protein S25 | Zawsze | W 1 chorobie |
| NADK2NAD kinase 2, mitochondrial | Zawsze | W 1 chorobie |
| NDE1nudE neurodevelopment protein 1 | Zawsze | W 1 chorobie |
| NDUFA10NADH:ubiquinone oxidoreductase subunit A10 | Zawsze | W 1 chorobie |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Zawsze | W 1 chorobie |
| OPA1OPA1 mitochondrial dynamin like GTPase | Zawsze | W 1 chorobie |
| PHACTR1phosphatase and actin regulator 1 | Zawsze | W 1 chorobie |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Zawsze | W 1 chorobie |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Zawsze | W 2 chorobach |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Zawsze | W 2 chorobach |
| POLR1ARNA polymerase I subunit A | Zawsze | W 1 chorobie |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Zawsze | W 1 chorobie |
| RBSNrabenosyn, RAB effector | Zawsze | W 1 chorobie |
| RNU2-2RNA, U2 small nuclear 2 | Zawsze | W 1 chorobie |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Zawsze | W 2 chorobach |
| SLC18A2solute carrier family 18 member A2 | Zawsze | W 2 chorobach |
| SLC39A8solute carrier family 39 member 8 | Zawsze | W 2 chorobach |
| SLC5A6solute carrier family 5 member 6 | Zawsze | W 1 chorobie |
| SNAP29synaptosome associated protein 29 | Zawsze | W 2 chorobach |
| SPOUT1SPOUT domain containing methyltransferase 1 | Zawsze | W 1 chorobie |
| SPTBN2spectrin beta, non-erythrocytic 2 | Zawsze | W 1 chorobie |
| SPTBN4spectrin beta, non-erythrocytic 4 | Zawsze | W 1 chorobie |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Zawsze | W 1 chorobie |
| VAMP1vesicle associated membrane protein 1 | Zawsze | W 1 chorobie |
| VPS50VPS50 subunit of EARP/GARPII complex | Zawsze | W 1 chorobie |
| ASPAaspartoacylase | Bardzo często (80–99%) | W 2 chorobach |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Bardzo często (80–99%) | W 1 chorobie |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Bardzo często (80–99%) | W 1 chorobie |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Bardzo często (80–99%) | W 1 chorobie |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Bardzo często (80–99%) | W 2 chorobach |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Bardzo często (80–99%) | W 1 chorobie |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Bardzo często (80–99%) | W 1 chorobie |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Bardzo często (80–99%) | W 1 chorobie |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Bardzo często (80–99%) | W 1 chorobie |
| TMEM126Btransmembrane protein 126B | Bardzo często (80–99%) | W 1 chorobie |
| ZNF526zinc finger protein 526 | Bardzo często (80–99%) | W 1 chorobie |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Często (30–79%) | W 1 chorobie |
| CASKcalcium/calmodulin dependent serine protein kinase | Często (30–79%) | W 1 chorobie |
| CDKL5cyclin dependent kinase like 5 | Często (30–79%) | W 2 chorobach |
| CELF2CUGBP Elav-like family member 2 | Często (30–79%) | W 2 chorobach |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Często (30–79%) | W 1 chorobie |
| COL13A1collagen type XIII alpha 1 chain | Często (30–79%) | W 2 chorobach |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Często (30–79%) | W 1 chorobie |
| COX4I1cytochrome c oxidase subunit 4I1 | Często (30–79%) | W 1 chorobie |
| CPLX1complexin 1 | Często (30–79%) | W 1 chorobie |
| DDCdopa decarboxylase | Często (30–79%) | W 1 chorobie |
| DMXL2Dmx like 2 | Często (30–79%) | W 1 chorobie |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Często (30–79%) | W 1 chorobie |
| EXOSC9exosome component 9 | Często (30–79%) | W 1 chorobie |
| FHL1four and a half LIM domains 1 | Często (30–79%) | W 1 chorobie |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Często (30–79%) | W 2 chorobach |
| GEMIN4gem nuclear organelle associated protein 4 | Często (30–79%) | W 1 chorobie |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Często (30–79%) | W 1 chorobie |
| GMPPBGDP-mannose pyrophosphorylase B | Często (30–79%) | W 3 chorobach |
| GNAO1G protein subunit alpha o1 | Często (30–79%) | W 2 chorobach |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Często (30–79%) | W 1 chorobie |
| GRM7glutamate metabotropic receptor 7 | Często (30–79%) | W 1 chorobie |
| GTPBP2GTP binding protein 2 | Często (30–79%) | W 1 chorobie |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Często (30–79%) | W 1 chorobie |
| HIVEP2HIVEP zinc finger 2 | Często (30–79%) | W 1 chorobie |
| ITGA7integrin subunit alpha 7 | Często (30–79%) | W 1 chorobie |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Często (30–79%) | W 1 chorobie |
| LAMB2laminin subunit beta 2 | Często (30–79%) | W 1 chorobie |
| LGI1leucine rich glioma inactivated 1 | Często (30–79%) | W 1 chorobie |
| LYRM4LYR motif containing 4 | Często (30–79%) | W 1 chorobie |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Często (30–79%) | W 1 chorobie |
| MYH7myosin heavy chain 7 | Często (30–79%) | W 1 chorobie |
| MYL2myosin light chain 2 | Często (30–79%) | W 1 chorobie |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Często (30–79%) | W 1 chorobie |
| NEUROD2neuronal differentiation 2 | Często (30–79%) | W 1 chorobie |
| NONOnon-POU domain containing octamer binding | Często (30–79%) | W 1 chorobie |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Często (30–79%) | W 1 chorobie |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Często (30–79%) | W 1 chorobie |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Często (30–79%) | W 1 chorobie |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Często (30–79%) | W 2 chorobach |
| PLP1proteolipid protein 1 | Często (30–79%) | W 2 chorobach |
| PNKPpolynucleotide kinase 3'-phosphatase | Często (30–79%) | W 1 chorobie |
| RARS1arginyl-tRNA synthetase 1 | Często (30–79%) | W 2 chorobach |
| RHOBTB2Rho related BTB domain containing 2 | Często (30–79%) | W 1 chorobie |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Często (30–79%) | W 1 chorobie |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Często (30–79%) | W 1 chorobie |
| SELENONselenoprotein N | Często (30–79%) | W 4 chorobach |
| SIK1salt inducible kinase 1 | Często (30–79%) | W 1 chorobie |
| SLC25A12solute carrier family 25 member 12 | Często (30–79%) | W 1 chorobie |
| SLC25A22solute carrier family 25 member 22 | Często (30–79%) | W 1 chorobie |
| SLC32A1solute carrier family 32 member 1 | Często (30–79%) | W 1 chorobie |
| SLC35A2solute carrier family 35 member A2 | Często (30–79%) | W 1 chorobie |
| TMEM63Atransmembrane protein 63A | Często (30–79%) | W 1 chorobie |
| TNNT1troponin T1, slow skeletal type | Często (30–79%) | W 1 chorobie |
| TPM2tropomyosin 2 | Często (30–79%) | W 2 chorobach |
| TPM3tropomyosin 3 | Często (30–79%) | W 2 chorobach |
| TRIM8tripartite motif containing 8 | Często (30–79%) | W 1 chorobie |
| TRIP4thyroid hormone receptor interactor 4 | Często (30–79%) | W 1 chorobie |
| TTNtitin | Często (30–79%) | W 1 chorobie |
| VARS1valyl-tRNA synthetase 1 | Często (30–79%) | W 1 chorobie |
| AARS1alanyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| ACTL6Bactin like 6B | Czasami (5–29%) | W 1 chorobie |
| ADNPactivity dependent neuroprotector homeobox | Czasami (5–29%) | W 1 chorobie |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Czasami (5–29%) | W 1 chorobie |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Czasami (5–29%) | W 1 chorobie |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Czasami (5–29%) | W 1 chorobie |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Czasami (5–29%) | W 1 chorobie |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Czasami (5–29%) | W 1 chorobie |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Czasami (5–29%) | W 1 chorobie |
| ATP6V1AATPase H+ transporting V1 subunit A | Czasami (5–29%) | W 1 chorobie |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Czasami (5–29%) | W 1 chorobie |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Czasami (5–29%) | W 1 chorobie |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Czasami (5–29%) | W 1 chorobie |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Czasami (5–29%) | W 1 chorobie |
| CDK19cyclin dependent kinase 19 | Czasami (5–29%) | W 1 chorobie |
| CLTCclathrin heavy chain | Czasami (5–29%) | W 1 chorobie |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Czasami (5–29%) | W 1 chorobie |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Czasami (5–29%) | W 1 chorobie |
| DALRD3DALR anticodon binding domain containing 3 | Czasami (5–29%) | W 1 chorobie |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Czasami (5–29%) | W 1 chorobie |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Czasami (5–29%) | W 1 chorobie |
| DHX16DEAH-box helicase 16 | Czasami (5–29%) | W 1 chorobie |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Czasami (5–29%) | W 1 chorobie |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Czasami (5–29%) | W 1 chorobie |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| FBXO28F-box protein 28 | Czasami (5–29%) | W 1 chorobie |
| FGF12fibroblast growth factor 12 | Czasami (5–29%) | W 1 chorobie |
| FHfumarate hydratase | Czasami (5–29%) | W 1 chorobie |
| FOXG1forkhead box G1 | Czasami (5–29%) | W 1 chorobie |
| FZR1fizzy and cell division cycle 20 related 1 | Czasami (5–29%) | W 1 chorobie |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Czasami (5–29%) | W 1 chorobie |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Czasami (5–29%) | W 1 chorobie |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Czasami (5–29%) | W 1 chorobie |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Czasami (5–29%) | W 1 chorobie |
| GALCgalactosylceramidase | Czasami (5–29%) | W 1 chorobie |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Czasami (5–29%) | W 1 chorobie |
| GNB5G protein subunit beta 5 | Czasami (5–29%) | W 1 chorobie |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Czasami (5–29%) | W 1 chorobie |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Czasami (5–29%) | W 1 chorobie |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Czasami (5–29%) | W 1 chorobie |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Czasami (5–29%) | W 1 chorobie |
| IFIH1interferon induced with helicase C domain 1 | Czasami (5–29%) | W 1 chorobie |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Czasami (5–29%) | W 1 chorobie |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Czasami (5–29%) | W 1 chorobie |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Czasami (5–29%) | W 1 chorobie |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Czasami (5–29%) | W 1 chorobie |
| MYPNmyopalladin | Czasami (5–29%) | W 1 chorobie |
| NACC1nucleus accumbens associated 1 | Czasami (5–29%) | W 1 chorobie |
| NECAP1NECAP endocytosis associated 1 | Czasami (5–29%) | W 1 chorobie |
| NGLY1N-glycanase 1 | Czasami (5–29%) | W 1 chorobie |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Czasami (5–29%) | W 1 chorobie |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Czasami (5–29%) | W 1 chorobie |
| PACS2phosphofurin acidic cluster sorting protein 2 | Czasami (5–29%) | W 1 chorobie |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| PET100PET100 cytochrome c oxidase chaperone | Czasami (5–29%) | W 1 chorobie |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| PSAPprosaposin | Czasami (5–29%) | W 1 chorobie |
| PTS6-pyruvoyltetrahydropterin synthase | Czasami (5–29%) | W 1 chorobie |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Czasami (5–29%) | W 1 chorobie |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Czasami (5–29%) | W 1 chorobie |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Czasami (5–29%) | W 1 chorobie |
| SLC13A5solute carrier family 13 member 5 | Czasami (5–29%) | W 1 chorobie |
| SLC16A2solute carrier family 16 member 2 | Czasami (5–29%) | W 1 chorobie |
| SLC1A2solute carrier family 1 member 2 | Czasami (5–29%) | W 1 chorobie |
| SLC38A3solute carrier family 38 member 3 | Czasami (5–29%) | W 1 chorobie |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Czasami (5–29%) | W 1 chorobie |
| SYNJ1synaptojanin 1 | Czasami (5–29%) | W 1 chorobie |
| SZT2SZT2 subunit of KICSTOR complex | Czasami (5–29%) | W 1 chorobie |
| TRAK1trafficking kinesin protein 1 | Czasami (5–29%) | W 1 chorobie |
| UBA5ubiquitin like modifier activating enzyme 5 | Czasami (5–29%) | W 1 chorobie |
| UFSP2UFM1 specific peptidase 2 | Czasami (5–29%) | W 1 chorobie |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Czasami (5–29%) | W 1 chorobie |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Rzadko (1–4%) | W 1 chorobie |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Rzadko (1–4%) | W 1 chorobie |
| SDHDsuccinate dehydrogenase complex subunit D | Rzadko (1–4%) | W 1 chorobie |
| BOLA3bolA family member 3 | Nie odnotowano | W 1 chorobie |
| DHFRdihydrofolate reductase | Nie odnotowano | W 1 chorobie |
| EBF3EBF transcription factor 3 | Nie odnotowano | W 1 chorobie |
| EXOSC3exosome component 3 | Nie odnotowano | W 1 chorobie |
| GM2Aganglioside GM2 activator | Nie odnotowano | W 1 chorobie |
| HEXAhexosaminidase subunit alpha | Nie odnotowano | W 1 chorobie |
| MPZmyelin protein zero | Nie odnotowano | W 1 chorobie |
| PCLOpiccolo presynaptic cytomatrix protein | Nie odnotowano | W 1 chorobie |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Nie odnotowano | W 1 chorobie |
| PMPCBpeptidase, mitochondrial processing subunit beta | Nie odnotowano | W 1 chorobie |
| POMKprotein O-mannose kinase | Nie odnotowano | W 1 chorobie |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Nie odnotowano | W 1 chorobie |
| SMN1survival of motor neuron 1, telomeric | Nie odnotowano | W 1 chorobie |
| TREX1three prime repair exonuclease 1 | Nie odnotowano | W 1 chorobie |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
Jeden test. Odpowiedzi na całe życie.
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