Egenskap
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.
Sammendrag
- Også kalt
- Delay in head control, Delay in head righting, Infant head lag
- Kroppssystem
- Abnormality of the musculoskeletal system
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Få mitt Genome Test251 gener knyttet til Poor head control
Endringer i disse genene forårsaker sjeldne tilstander der Poor head control 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 |
|---|---|---|
| ACTA1actin alpha 1, skeletal muscle | Alltid | I 3 tilstander |
| ADCY5adenylate cyclase 5 | Alltid | I 1 tilstand |
| AHCYadenosylhomocysteinase | Alltid | I 2 tilstander |
| AHDC1AT-hook DNA binding motif containing 1 | Alltid | I 1 tilstand |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Alltid | I 1 tilstand |
| ARXaristaless related homeobox | Alltid | I 2 tilstander |
| ATP7AATPase copper transporting alpha | Alltid | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Alltid | I 2 tilstander |
| CAMLGcalcium modulating ligand | Alltid | I 1 tilstand |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Alltid | I 1 tilstand |
| CHRNDcholinergic receptor nicotinic delta subunit | Alltid | I 1 tilstand |
| COG8component of oligomeric golgi complex 8 | Alltid | I 2 tilstander |
| COL4A2collagen type IV alpha 2 chain | Alltid | I 1 tilstand |
| COX18cytochrome c oxidase assembly factor COX18 | Alltid | I 1 tilstand |
| DAG1dystroglycan 1 | Alltid | I 2 tilstander |
| DAGLAdiacylglycerol lipase alpha | Alltid | I 1 tilstand |
| DNM1dynamin 1 | Alltid | I 2 tilstander |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alltid | I 1 tilstand |
| ELP2elongator acetyltransferase complex subunit 2 | Alltid | I 1 tilstand |
| ESAMendothelial cell adhesion molecule | Alltid | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Alltid | I 1 tilstand |
| FDXRferredoxin reductase | Alltid | I 1 tilstand |
| FKBP14FKBP prolyl isomerase 14 | Alltid | I 2 tilstander |
| FKRPfukutin related protein | Alltid | I 1 tilstand |
| GJC2gap junction protein gamma 2 | Alltid | I 1 tilstand |
| GPHNgephyrin | Alltid | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Alltid | I 2 tilstander |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Alltid | I 1 tilstand |
| HSPD1heat shock protein family D (Hsp60) member 1 | Alltid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Alltid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alltid | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Alltid | I 1 tilstand |
| IREB2iron responsive element binding protein 2 | Alltid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alltid | I 2 tilstander |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Alltid | I 2 tilstander |
| LGI4leucine rich repeat LGI family member 4 | Alltid | I 1 tilstand |
| LMNAlamin A/C | Alltid | I 2 tilstander |
| MAN2B2mannosidase alpha class 2B member 2 | Alltid | I 1 tilstand |
| MDH2malate dehydrogenase 2 | Alltid | I 1 tilstand |
Vis 211 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| MED16mediator complex subunit 16 | Alltid | I 1 tilstand |
| MEGF10multiple EGF like domains 10 | Alltid | I 1 tilstand |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Alltid | I 1 tilstand |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Alltid | I 1 tilstand |
| MRPS25mitochondrial ribosomal protein S25 | Alltid | I 1 tilstand |
| NADK2NAD kinase 2, mitochondrial | Alltid | I 1 tilstand |
| NDE1nudE neurodevelopment protein 1 | Alltid | I 1 tilstand |
| NDUFA10NADH:ubiquinone oxidoreductase subunit A10 | Alltid | I 1 tilstand |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Alltid | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Alltid | I 1 tilstand |
| PHACTR1phosphatase and actin regulator 1 | Alltid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alltid | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Alltid | I 2 tilstander |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Alltid | I 2 tilstander |
| POLR1ARNA polymerase I subunit A | Alltid | I 1 tilstand |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Alltid | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Alltid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Alltid | I 2 tilstander |
| SLC18A2solute carrier family 18 member A2 | Alltid | I 2 tilstander |
| SLC39A8solute carrier family 39 member 8 | Alltid | I 2 tilstander |
| SLC5A6solute carrier family 5 member 6 | Alltid | I 1 tilstand |
| SNAP29synaptosome associated protein 29 | Alltid | I 2 tilstander |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alltid | I 1 tilstand |
| SPTBN2spectrin beta, non-erythrocytic 2 | Alltid | I 1 tilstand |
| SPTBN4spectrin beta, non-erythrocytic 4 | Alltid | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Alltid | I 1 tilstand |
| VAMP1vesicle associated membrane protein 1 | Alltid | I 1 tilstand |
| VPS50VPS50 subunit of EARP/GARPII complex | Alltid | I 1 tilstand |
| ASPAaspartoacylase | Svært ofte (80–99 %) | I 2 tilstander |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Svært ofte (80–99 %) | I 2 tilstander |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Svært ofte (80–99 %) | I 1 tilstand |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Svært ofte (80–99 %) | I 1 tilstand |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TMEM126Btransmembrane protein 126B | Svært ofte (80–99 %) | I 1 tilstand |
| ZNF526zinc finger protein 526 | Svært ofte (80–99 %) | I 1 tilstand |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Ofte (30–79 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofte (30–79 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Ofte (30–79 %) | I 2 tilstander |
| CELF2CUGBP Elav-like family member 2 | Ofte (30–79 %) | I 2 tilstander |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| COL13A1collagen type XIII alpha 1 chain | Ofte (30–79 %) | I 2 tilstander |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Ofte (30–79 %) | I 1 tilstand |
| COX4I1cytochrome c oxidase subunit 4I1 | Ofte (30–79 %) | I 1 tilstand |
| CPLX1complexin 1 | Ofte (30–79 %) | I 1 tilstand |
| DDCdopa decarboxylase | Ofte (30–79 %) | I 1 tilstand |
| DMXL2Dmx like 2 | Ofte (30–79 %) | I 1 tilstand |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Ofte (30–79 %) | I 1 tilstand |
| EXOSC9exosome component 9 | Ofte (30–79 %) | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Ofte (30–79 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Ofte (30–79 %) | I 2 tilstander |
| GEMIN4gem nuclear organelle associated protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Ofte (30–79 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Ofte (30–79 %) | I 3 tilstander |
| GNAO1G protein subunit alpha o1 | Ofte (30–79 %) | I 2 tilstander |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Ofte (30–79 %) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Ofte (30–79 %) | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Ofte (30–79 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| ITGA7integrin subunit alpha 7 | Ofte (30–79 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Ofte (30–79 %) | I 1 tilstand |
| LAMB2laminin subunit beta 2 | Ofte (30–79 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Ofte (30–79 %) | I 1 tilstand |
| LYRM4LYR motif containing 4 | Ofte (30–79 %) | I 1 tilstand |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Ofte (30–79 %) | I 1 tilstand |
| MYH7myosin heavy chain 7 | Ofte (30–79 %) | I 1 tilstand |
| MYL2myosin light chain 2 | Ofte (30–79 %) | I 1 tilstand |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Ofte (30–79 %) | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Ofte (30–79 %) | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Ofte (30–79 %) | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Ofte (30–79 %) | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Ofte (30–79 %) | I 2 tilstander |
| PLP1proteolipid protein 1 | Ofte (30–79 %) | I 2 tilstander |
| PNKPpolynucleotide kinase 3'-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| RARS1arginyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstander |
| RHOBTB2Rho related BTB domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| SELENONselenoprotein N | Ofte (30–79 %) | I 4 tilstander |
| SIK1salt inducible kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A12solute carrier family 25 member 12 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Ofte (30–79 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC35A2solute carrier family 35 member A2 | Ofte (30–79 %) | I 1 tilstand |
| TMEM63Atransmembrane protein 63A | Ofte (30–79 %) | I 1 tilstand |
| TNNT1troponin T1, slow skeletal type | Ofte (30–79 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Ofte (30–79 %) | I 2 tilstander |
| TPM3tropomyosin 3 | Ofte (30–79 %) | I 2 tilstander |
| TRIM8tripartite motif containing 8 | Ofte (30–79 %) | I 1 tilstand |
| TRIP4thyroid hormone receptor interactor 4 | Ofte (30–79 %) | I 1 tilstand |
| TTNtitin | Ofte (30–79 %) | I 1 tilstand |
| VARS1valyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ACTL6Bactin like 6B | Noen ganger (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Noen ganger (5–29 %) | I 1 tilstand |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Noen ganger (5–29 %) | I 1 tilstand |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Noen ganger (5–29 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Noen ganger (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Noen ganger (5–29 %) | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Noen ganger (5–29 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| DHX16DEAH-box helicase 16 | Noen ganger (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Noen ganger (5–29 %) | I 1 tilstand |
| FHfumarate hydratase | Noen ganger (5–29 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Noen ganger (5–29 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Noen ganger (5–29 %) | I 1 tilstand |
| GALCgalactosylceramidase | Noen ganger (5–29 %) | I 1 tilstand |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GNB5G protein subunit beta 5 | Noen ganger (5–29 %) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Noen ganger (5–29 %) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Noen ganger (5–29 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MYPNmyopalladin | Noen ganger (5–29 %) | I 1 tilstand |
| NACC1nucleus accumbens associated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| PET100PET100 cytochrome c oxidase chaperone | Noen ganger (5–29 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PSAPprosaposin | Noen ganger (5–29 %) | I 1 tilstand |
| PTS6-pyruvoyltetrahydropterin synthase | Noen ganger (5–29 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Noen ganger (5–29 %) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Noen ganger (5–29 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Noen ganger (5–29 %) | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Sjelden (1–4%) | I 1 tilstand |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Sjelden (1–4%) | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Sjelden (1–4%) | I 1 tilstand |
| BOLA3bolA family member 3 | Ikke registrert | I 1 tilstand |
| DHFRdihydrofolate reductase | Ikke registrert | I 1 tilstand |
| EBF3EBF transcription factor 3 | Ikke registrert | I 1 tilstand |
| EXOSC3exosome component 3 | Ikke registrert | I 1 tilstand |
| GM2Aganglioside GM2 activator | Ikke registrert | I 1 tilstand |
| HEXAhexosaminidase subunit alpha | Ikke registrert | I 1 tilstand |
| MPZmyelin protein zero | Ikke registrert | I 1 tilstand |
| PCLOpiccolo presynaptic cytomatrix protein | Ikke registrert | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ikke registrert | I 1 tilstand |
| PMPCBpeptidase, mitochondrial processing subunit beta | Ikke registrert | I 1 tilstand |
| POMKprotein O-mannose kinase | Ikke registrert | I 1 tilstand |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| SMN1survival of motor neuron 1, telomeric | Ikke registrert | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Ikke registrert | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 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.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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