Požymis
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.
Santrauka
- Taip pat vadinama
- Delay in head control, Delay in head righting, Infant head lag
- Kūno sistema
- Abnormality of the musculoskeletal system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Poor head control, and the rest of your genome, with one test.
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Įsigyti savo Genome Test251 genas susijęs su Poor head control
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Poor head control. 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 |
|---|---|---|
| ACTA1actin alpha 1, skeletal muscle | Visada | 3 ligose |
| ADCY5adenylate cyclase 5 | Visada | 1 ligoje |
| AHCYadenosylhomocysteinase | Visada | 2 ligose |
| AHDC1AT-hook DNA binding motif containing 1 | Visada | 1 ligoje |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Visada | 1 ligoje |
| ARXaristaless related homeobox | Visada | 2 ligose |
| ATP7AATPase copper transporting alpha | Visada | 1 ligoje |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Visada | 2 ligose |
| CAMLGcalcium modulating ligand | Visada | 1 ligoje |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Visada | 1 ligoje |
| CHRNDcholinergic receptor nicotinic delta subunit | Visada | 1 ligoje |
| COG8component of oligomeric golgi complex 8 | Visada | 2 ligose |
| COL4A2collagen type IV alpha 2 chain | Visada | 1 ligoje |
| COX18cytochrome c oxidase assembly factor COX18 | Visada | 1 ligoje |
| DAG1dystroglycan 1 | Visada | 2 ligose |
| DAGLAdiacylglycerol lipase alpha | Visada | 1 ligoje |
| DNM1dynamin 1 | Visada | 2 ligose |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Visada | 1 ligoje |
| ELP2elongator acetyltransferase complex subunit 2 | Visada | 1 ligoje |
| ESAMendothelial cell adhesion molecule | Visada | 1 ligoje |
| FBXL4F-box and leucine rich repeat protein 4 | Visada | 1 ligoje |
| FDXRferredoxin reductase | Visada | 1 ligoje |
| FKBP14FKBP prolyl isomerase 14 | Visada | 2 ligose |
| FKRPfukutin related protein | Visada | 1 ligoje |
| GJC2gap junction protein gamma 2 | Visada | 1 ligoje |
| GPHNgephyrin | Visada | 1 ligoje |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Visada | 2 ligose |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Visada | 1 ligoje |
| HSPD1heat shock protein family D (Hsp60) member 1 | Visada | 1 ligoje |
| IFT140intraflagellar transport 140 | Visada | 1 ligoje |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Visada | 1 ligoje |
| INPP5Einositol polyphosphate-5-phosphatase E | Visada | 1 ligoje |
| IREB2iron responsive element binding protein 2 | Visada | 1 ligoje |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Visada | 2 ligose |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Visada | 2 ligose |
| LGI4leucine rich repeat LGI family member 4 | Visada | 1 ligoje |
| LMNAlamin A/C | Visada | 2 ligose |
| MAN2B2mannosidase alpha class 2B member 2 | Visada | 1 ligoje |
| MDH2malate dehydrogenase 2 | Visada | 1 ligoje |
Rodyti dar 211 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| MED16mediator complex subunit 16 | Visada | 1 ligoje |
| MEGF10multiple EGF like domains 10 | Visada | 1 ligoje |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Visada | 1 ligoje |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Visada | 1 ligoje |
| MRPS25mitochondrial ribosomal protein S25 | Visada | 1 ligoje |
| NADK2NAD kinase 2, mitochondrial | Visada | 1 ligoje |
| NDE1nudE neurodevelopment protein 1 | Visada | 1 ligoje |
| NDUFA10NADH:ubiquinone oxidoreductase subunit A10 | Visada | 1 ligoje |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Visada | 1 ligoje |
| OPA1OPA1 mitochondrial dynamin like GTPase | Visada | 1 ligoje |
| PHACTR1phosphatase and actin regulator 1 | Visada | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 1 ligoje |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Visada | 2 ligose |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Visada | 2 ligose |
| POLR1ARNA polymerase I subunit A | Visada | 1 ligoje |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Visada | 1 ligoje |
| RBSNrabenosyn, RAB effector | Visada | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Visada | 2 ligose |
| SLC18A2solute carrier family 18 member A2 | Visada | 2 ligose |
| SLC39A8solute carrier family 39 member 8 | Visada | 2 ligose |
| SLC5A6solute carrier family 5 member 6 | Visada | 1 ligoje |
| SNAP29synaptosome associated protein 29 | Visada | 2 ligose |
| SPOUT1SPOUT domain containing methyltransferase 1 | Visada | 1 ligoje |
| SPTBN2spectrin beta, non-erythrocytic 2 | Visada | 1 ligoje |
| SPTBN4spectrin beta, non-erythrocytic 4 | Visada | 1 ligoje |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Visada | 1 ligoje |
| VAMP1vesicle associated membrane protein 1 | Visada | 1 ligoje |
| VPS50VPS50 subunit of EARP/GARPII complex | Visada | 1 ligoje |
| ASPAaspartoacylase | Labai dažnai (80–99%) | 2 ligose |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Labai dažnai (80–99%) | 2 ligose |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Labai dažnai (80–99%) | 1 ligoje |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Labai dažnai (80–99%) | 1 ligoje |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM126Btransmembrane protein 126B | Labai dažnai (80–99%) | 1 ligoje |
| ZNF526zinc finger protein 526 | Labai dažnai (80–99%) | 1 ligoje |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Dažnai (30–79%) | 1 ligoje |
| CASKcalcium/calmodulin dependent serine protein kinase | Dažnai (30–79%) | 1 ligoje |
| CDKL5cyclin dependent kinase like 5 | Dažnai (30–79%) | 2 ligose |
| CELF2CUGBP Elav-like family member 2 | Dažnai (30–79%) | 2 ligose |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Dažnai (30–79%) | 1 ligoje |
| COL13A1collagen type XIII alpha 1 chain | Dažnai (30–79%) | 2 ligose |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Dažnai (30–79%) | 1 ligoje |
| COX4I1cytochrome c oxidase subunit 4I1 | Dažnai (30–79%) | 1 ligoje |
| CPLX1complexin 1 | Dažnai (30–79%) | 1 ligoje |
| DDCdopa decarboxylase | Dažnai (30–79%) | 1 ligoje |
| DMXL2Dmx like 2 | Dažnai (30–79%) | 1 ligoje |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Dažnai (30–79%) | 1 ligoje |
| EXOSC9exosome component 9 | Dažnai (30–79%) | 1 ligoje |
| FHL1four and a half LIM domains 1 | Dažnai (30–79%) | 1 ligoje |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Dažnai (30–79%) | 2 ligose |
| GEMIN4gem nuclear organelle associated protein 4 | Dažnai (30–79%) | 1 ligoje |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Dažnai (30–79%) | 1 ligoje |
| GMPPBGDP-mannose pyrophosphorylase B | Dažnai (30–79%) | 3 ligose |
| GNAO1G protein subunit alpha o1 | Dažnai (30–79%) | 2 ligose |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Dažnai (30–79%) | 1 ligoje |
| GRM7glutamate metabotropic receptor 7 | Dažnai (30–79%) | 1 ligoje |
| GTPBP2GTP binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Dažnai (30–79%) | 1 ligoje |
| HIVEP2HIVEP zinc finger 2 | Dažnai (30–79%) | 1 ligoje |
| ITGA7integrin subunit alpha 7 | Dažnai (30–79%) | 1 ligoje |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Dažnai (30–79%) | 1 ligoje |
| LAMB2laminin subunit beta 2 | Dažnai (30–79%) | 1 ligoje |
| LGI1leucine rich glioma inactivated 1 | Dažnai (30–79%) | 1 ligoje |
| LYRM4LYR motif containing 4 | Dažnai (30–79%) | 1 ligoje |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Dažnai (30–79%) | 1 ligoje |
| MYH7myosin heavy chain 7 | Dažnai (30–79%) | 1 ligoje |
| MYL2myosin light chain 2 | Dažnai (30–79%) | 1 ligoje |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Dažnai (30–79%) | 1 ligoje |
| NEUROD2neuronal differentiation 2 | Dažnai (30–79%) | 1 ligoje |
| NONOnon-POU domain containing octamer binding | Dažnai (30–79%) | 1 ligoje |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Dažnai (30–79%) | 1 ligoje |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Dažnai (30–79%) | 1 ligoje |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Dažnai (30–79%) | 2 ligose |
| PLP1proteolipid protein 1 | Dažnai (30–79%) | 2 ligose |
| PNKPpolynucleotide kinase 3'-phosphatase | Dažnai (30–79%) | 1 ligoje |
| RARS1arginyl-tRNA synthetase 1 | Dažnai (30–79%) | 2 ligose |
| RHOBTB2Rho related BTB domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Dažnai (30–79%) | 1 ligoje |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Dažnai (30–79%) | 1 ligoje |
| SELENONselenoprotein N | Dažnai (30–79%) | 4 ligose |
| SIK1salt inducible kinase 1 | Dažnai (30–79%) | 1 ligoje |
| SLC25A12solute carrier family 25 member 12 | Dažnai (30–79%) | 1 ligoje |
| SLC25A22solute carrier family 25 member 22 | Dažnai (30–79%) | 1 ligoje |
| SLC32A1solute carrier family 32 member 1 | Dažnai (30–79%) | 1 ligoje |
| SLC35A2solute carrier family 35 member A2 | Dažnai (30–79%) | 1 ligoje |
| TMEM63Atransmembrane protein 63A | Dažnai (30–79%) | 1 ligoje |
| TNNT1troponin T1, slow skeletal type | Dažnai (30–79%) | 1 ligoje |
| TPM2tropomyosin 2 | Dažnai (30–79%) | 2 ligose |
| TPM3tropomyosin 3 | Dažnai (30–79%) | 2 ligose |
| TRIM8tripartite motif containing 8 | Dažnai (30–79%) | 1 ligoje |
| TRIP4thyroid hormone receptor interactor 4 | Dažnai (30–79%) | 1 ligoje |
| TTNtitin | Dažnai (30–79%) | 1 ligoje |
| VARS1valyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| ACTL6Bactin like 6B | Kartais (5–29%) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Kartais (5–29%) | 1 ligoje |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Kartais (5–29%) | 1 ligoje |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Kartais (5–29%) | 1 ligoje |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Kartais (5–29%) | 1 ligoje |
| ATP6V1AATPase H+ transporting V1 subunit A | Kartais (5–29%) | 1 ligoje |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Kartais (5–29%) | 1 ligoje |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Kartais (5–29%) | 1 ligoje |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Kartais (5–29%) | 1 ligoje |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Kartais (5–29%) | 1 ligoje |
| CDK19cyclin dependent kinase 19 | Kartais (5–29%) | 1 ligoje |
| CLTCclathrin heavy chain | Kartais (5–29%) | 1 ligoje |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Kartais (5–29%) | 1 ligoje |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Kartais (5–29%) | 1 ligoje |
| DALRD3DALR anticodon binding domain containing 3 | Kartais (5–29%) | 1 ligoje |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Kartais (5–29%) | 1 ligoje |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Kartais (5–29%) | 1 ligoje |
| DHX16DEAH-box helicase 16 | Kartais (5–29%) | 1 ligoje |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Kartais (5–29%) | 1 ligoje |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Kartais (5–29%) | 1 ligoje |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| FBXO28F-box protein 28 | Kartais (5–29%) | 1 ligoje |
| FGF12fibroblast growth factor 12 | Kartais (5–29%) | 1 ligoje |
| FHfumarate hydratase | Kartais (5–29%) | 1 ligoje |
| FOXG1forkhead box G1 | Kartais (5–29%) | 1 ligoje |
| FZR1fizzy and cell division cycle 20 related 1 | Kartais (5–29%) | 1 ligoje |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Kartais (5–29%) | 1 ligoje |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Kartais (5–29%) | 1 ligoje |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Kartais (5–29%) | 1 ligoje |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Kartais (5–29%) | 1 ligoje |
| GALCgalactosylceramidase | Kartais (5–29%) | 1 ligoje |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Kartais (5–29%) | 1 ligoje |
| GNB5G protein subunit beta 5 | Kartais (5–29%) | 1 ligoje |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Kartais (5–29%) | 1 ligoje |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Kartais (5–29%) | 1 ligoje |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Kartais (5–29%) | 1 ligoje |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Kartais (5–29%) | 1 ligoje |
| IFIH1interferon induced with helicase C domain 1 | Kartais (5–29%) | 1 ligoje |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Kartais (5–29%) | 1 ligoje |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Kartais (5–29%) | 1 ligoje |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Kartais (5–29%) | 1 ligoje |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Kartais (5–29%) | 1 ligoje |
| MYPNmyopalladin | Kartais (5–29%) | 1 ligoje |
| NACC1nucleus accumbens associated 1 | Kartais (5–29%) | 1 ligoje |
| NECAP1NECAP endocytosis associated 1 | Kartais (5–29%) | 1 ligoje |
| NGLY1N-glycanase 1 | Kartais (5–29%) | 1 ligoje |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Kartais (5–29%) | 1 ligoje |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Kartais (5–29%) | 1 ligoje |
| PACS2phosphofurin acidic cluster sorting protein 2 | Kartais (5–29%) | 1 ligoje |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| PET100PET100 cytochrome c oxidase chaperone | Kartais (5–29%) | 1 ligoje |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PSAPprosaposin | Kartais (5–29%) | 1 ligoje |
| PTS6-pyruvoyltetrahydropterin synthase | Kartais (5–29%) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Kartais (5–29%) | 1 ligoje |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Kartais (5–29%) | 1 ligoje |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Kartais (5–29%) | 1 ligoje |
| SLC13A5solute carrier family 13 member 5 | Kartais (5–29%) | 1 ligoje |
| SLC16A2solute carrier family 16 member 2 | Kartais (5–29%) | 1 ligoje |
| SLC1A2solute carrier family 1 member 2 | Kartais (5–29%) | 1 ligoje |
| SLC38A3solute carrier family 38 member 3 | Kartais (5–29%) | 1 ligoje |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Kartais (5–29%) | 1 ligoje |
| SYNJ1synaptojanin 1 | Kartais (5–29%) | 1 ligoje |
| SZT2SZT2 subunit of KICSTOR complex | Kartais (5–29%) | 1 ligoje |
| TRAK1trafficking kinesin protein 1 | Kartais (5–29%) | 1 ligoje |
| UBA5ubiquitin like modifier activating enzyme 5 | Kartais (5–29%) | 1 ligoje |
| UFSP2UFM1 specific peptidase 2 | Kartais (5–29%) | 1 ligoje |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Kartais (5–29%) | 1 ligoje |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Retai (1–4 %) | 1 ligoje |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Retai (1–4 %) | 1 ligoje |
| SDHDsuccinate dehydrogenase complex subunit D | Retai (1–4 %) | 1 ligoje |
| BOLA3bolA family member 3 | Neužfiksuota | 1 ligoje |
| DHFRdihydrofolate reductase | Neužfiksuota | 1 ligoje |
| EBF3EBF transcription factor 3 | Neužfiksuota | 1 ligoje |
| EXOSC3exosome component 3 | Neužfiksuota | 1 ligoje |
| GM2Aganglioside GM2 activator | Neužfiksuota | 1 ligoje |
| HEXAhexosaminidase subunit alpha | Neužfiksuota | 1 ligoje |
| MPZmyelin protein zero | Neužfiksuota | 1 ligoje |
| PCLOpiccolo presynaptic cytomatrix protein | Neužfiksuota | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Neužfiksuota | 1 ligoje |
| PMPCBpeptidase, mitochondrial processing subunit beta | Neužfiksuota | 1 ligoje |
| POMKprotein O-mannose kinase | Neužfiksuota | 1 ligoje |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| SMN1survival of motor neuron 1, telomeric | Neužfiksuota | 1 ligoje |
| TREX1three prime repair exonuclease 1 | Neužfiksuota | 1 ligoje |
| UFC1ubiquitin-fold modifier conjugating enzyme 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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