Kenmerk
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.
Samenvatting
- Ook bekend als
- Delay in head control, Delay in head righting, Infant head lag
- Lichaamssysteem
- Abnormality of the musculoskeletal system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Poor head control voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ACTA1actin alpha 1, skeletal muscle | Altijd | In 3 aandoeningen |
| ADCY5adenylate cyclase 5 | Altijd | In 1 aandoening |
| AHCYadenosylhomocysteinase | Altijd | In 2 aandoeningen |
| AHDC1AT-hook DNA binding motif containing 1 | Altijd | In 1 aandoening |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Altijd | In 1 aandoening |
| ARXaristaless related homeobox | Altijd | In 2 aandoeningen |
| ATP7AATPase copper transporting alpha | Altijd | In 1 aandoening |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Altijd | In 2 aandoeningen |
| CAMLGcalcium modulating ligand | Altijd | In 1 aandoening |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Altijd | In 1 aandoening |
| CHRNDcholinergic receptor nicotinic delta subunit | Altijd | In 1 aandoening |
| COG8component of oligomeric golgi complex 8 | Altijd | In 2 aandoeningen |
| COL4A2collagen type IV alpha 2 chain | Altijd | In 1 aandoening |
| COX18cytochrome c oxidase assembly factor COX18 | Altijd | In 1 aandoening |
| DAG1dystroglycan 1 | Altijd | In 2 aandoeningen |
| DAGLAdiacylglycerol lipase alpha | Altijd | In 1 aandoening |
| DNM1dynamin 1 | Altijd | In 2 aandoeningen |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altijd | In 1 aandoening |
| ELP2elongator acetyltransferase complex subunit 2 | Altijd | In 1 aandoening |
| ESAMendothelial cell adhesion molecule | Altijd | In 1 aandoening |
| FBXL4F-box and leucine rich repeat protein 4 | Altijd | In 1 aandoening |
| FDXRferredoxin reductase | Altijd | In 1 aandoening |
| FKBP14FKBP prolyl isomerase 14 | Altijd | In 2 aandoeningen |
| FKRPfukutin related protein | Altijd | In 1 aandoening |
| GJC2gap junction protein gamma 2 | Altijd | In 1 aandoening |
| GPHNgephyrin | Altijd | In 1 aandoening |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Altijd | In 2 aandoeningen |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Altijd | In 1 aandoening |
| HSPD1heat shock protein family D (Hsp60) member 1 | Altijd | In 1 aandoening |
| IFT140intraflagellar transport 140 | Altijd | In 1 aandoening |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altijd | In 1 aandoening |
| INPP5Einositol polyphosphate-5-phosphatase E | Altijd | In 1 aandoening |
| IREB2iron responsive element binding protein 2 | Altijd | In 1 aandoening |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altijd | In 2 aandoeningen |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Altijd | In 2 aandoeningen |
| LGI4leucine rich repeat LGI family member 4 | Altijd | In 1 aandoening |
| LMNAlamin A/C | Altijd | In 2 aandoeningen |
| MAN2B2mannosidase alpha class 2B member 2 | Altijd | In 1 aandoening |
| MDH2malate dehydrogenase 2 | Altijd | In 1 aandoening |
Toon nog 211 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| MED16mediator complex subunit 16 | Altijd | In 1 aandoening |
| MEGF10multiple EGF like domains 10 | Altijd | In 1 aandoening |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Altijd | In 1 aandoening |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Altijd | In 1 aandoening |
| MRPS25mitochondrial ribosomal protein S25 | Altijd | In 1 aandoening |
| NADK2NAD kinase 2, mitochondrial | Altijd | In 1 aandoening |
| NDE1nudE neurodevelopment protein 1 | Altijd | In 1 aandoening |
| NDUFA10NADH:ubiquinone oxidoreductase subunit A10 | Altijd | In 1 aandoening |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Altijd | In 1 aandoening |
| OPA1OPA1 mitochondrial dynamin like GTPase | Altijd | In 1 aandoening |
| PHACTR1phosphatase and actin regulator 1 | Altijd | In 1 aandoening |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altijd | In 1 aandoening |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Altijd | In 2 aandoeningen |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Altijd | In 2 aandoeningen |
| POLR1ARNA polymerase I subunit A | Altijd | In 1 aandoening |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Altijd | In 1 aandoening |
| RBSNrabenosyn, RAB effector | Altijd | In 1 aandoening |
| RNU2-2RNA, U2 small nuclear 2 | Altijd | In 1 aandoening |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Altijd | In 2 aandoeningen |
| SLC18A2solute carrier family 18 member A2 | Altijd | In 2 aandoeningen |
| SLC39A8solute carrier family 39 member 8 | Altijd | In 2 aandoeningen |
| SLC5A6solute carrier family 5 member 6 | Altijd | In 1 aandoening |
| SNAP29synaptosome associated protein 29 | Altijd | In 2 aandoeningen |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altijd | In 1 aandoening |
| SPTBN2spectrin beta, non-erythrocytic 2 | Altijd | In 1 aandoening |
| SPTBN4spectrin beta, non-erythrocytic 4 | Altijd | In 1 aandoening |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Altijd | In 1 aandoening |
| VAMP1vesicle associated membrane protein 1 | Altijd | In 1 aandoening |
| VPS50VPS50 subunit of EARP/GARPII complex | Altijd | In 1 aandoening |
| ASPAaspartoacylase | Heel vaak (80–99%) | In 2 aandoeningen |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Heel vaak (80–99%) | In 1 aandoening |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Heel vaak (80–99%) | In 1 aandoening |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| TMEM126Btransmembrane protein 126B | Heel vaak (80–99%) | In 1 aandoening |
| ZNF526zinc finger protein 526 | Heel vaak (80–99%) | In 1 aandoening |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Vaak (30–79%) | In 1 aandoening |
| CASKcalcium/calmodulin dependent serine protein kinase | Vaak (30–79%) | In 1 aandoening |
| CDKL5cyclin dependent kinase like 5 | Vaak (30–79%) | In 2 aandoeningen |
| CELF2CUGBP Elav-like family member 2 | Vaak (30–79%) | In 2 aandoeningen |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Vaak (30–79%) | In 1 aandoening |
| COL13A1collagen type XIII alpha 1 chain | Vaak (30–79%) | In 2 aandoeningen |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Vaak (30–79%) | In 1 aandoening |
| COX4I1cytochrome c oxidase subunit 4I1 | Vaak (30–79%) | In 1 aandoening |
| CPLX1complexin 1 | Vaak (30–79%) | In 1 aandoening |
| DDCdopa decarboxylase | Vaak (30–79%) | In 1 aandoening |
| DMXL2Dmx like 2 | Vaak (30–79%) | In 1 aandoening |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Vaak (30–79%) | In 1 aandoening |
| EXOSC9exosome component 9 | Vaak (30–79%) | In 1 aandoening |
| FHL1four and a half LIM domains 1 | Vaak (30–79%) | In 1 aandoening |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Vaak (30–79%) | In 2 aandoeningen |
| GEMIN4gem nuclear organelle associated protein 4 | Vaak (30–79%) | In 1 aandoening |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Vaak (30–79%) | In 1 aandoening |
| GMPPBGDP-mannose pyrophosphorylase B | Vaak (30–79%) | In 3 aandoeningen |
| GNAO1G protein subunit alpha o1 | Vaak (30–79%) | In 2 aandoeningen |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Vaak (30–79%) | In 1 aandoening |
| GRM7glutamate metabotropic receptor 7 | Vaak (30–79%) | In 1 aandoening |
| GTPBP2GTP binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Vaak (30–79%) | In 1 aandoening |
| HIVEP2HIVEP zinc finger 2 | Vaak (30–79%) | In 1 aandoening |
| ITGA7integrin subunit alpha 7 | Vaak (30–79%) | In 1 aandoening |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Vaak (30–79%) | In 1 aandoening |
| LAMB2laminin subunit beta 2 | Vaak (30–79%) | In 1 aandoening |
| LGI1leucine rich glioma inactivated 1 | Vaak (30–79%) | In 1 aandoening |
| LYRM4LYR motif containing 4 | Vaak (30–79%) | In 1 aandoening |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Vaak (30–79%) | In 1 aandoening |
| MYH7myosin heavy chain 7 | Vaak (30–79%) | In 1 aandoening |
| MYL2myosin light chain 2 | Vaak (30–79%) | In 1 aandoening |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Vaak (30–79%) | In 1 aandoening |
| NEUROD2neuronal differentiation 2 | Vaak (30–79%) | In 1 aandoening |
| NONOnon-POU domain containing octamer binding | Vaak (30–79%) | In 1 aandoening |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Vaak (30–79%) | In 1 aandoening |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Vaak (30–79%) | In 1 aandoening |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Vaak (30–79%) | In 1 aandoening |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Vaak (30–79%) | In 2 aandoeningen |
| PLP1proteolipid protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| PNKPpolynucleotide kinase 3'-phosphatase | Vaak (30–79%) | In 1 aandoening |
| RARS1arginyl-tRNA synthetase 1 | Vaak (30–79%) | In 2 aandoeningen |
| RHOBTB2Rho related BTB domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Vaak (30–79%) | In 1 aandoening |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Vaak (30–79%) | In 1 aandoening |
| SELENONselenoprotein N | Vaak (30–79%) | In 4 aandoeningen |
| SIK1salt inducible kinase 1 | Vaak (30–79%) | In 1 aandoening |
| SLC25A12solute carrier family 25 member 12 | Vaak (30–79%) | In 1 aandoening |
| SLC25A22solute carrier family 25 member 22 | Vaak (30–79%) | In 1 aandoening |
| SLC32A1solute carrier family 32 member 1 | Vaak (30–79%) | In 1 aandoening |
| SLC35A2solute carrier family 35 member A2 | Vaak (30–79%) | In 1 aandoening |
| TMEM63Atransmembrane protein 63A | Vaak (30–79%) | In 1 aandoening |
| TNNT1troponin T1, slow skeletal type | Vaak (30–79%) | In 1 aandoening |
| TPM2tropomyosin 2 | Vaak (30–79%) | In 2 aandoeningen |
| TPM3tropomyosin 3 | Vaak (30–79%) | In 2 aandoeningen |
| TRIM8tripartite motif containing 8 | Vaak (30–79%) | In 1 aandoening |
| TRIP4thyroid hormone receptor interactor 4 | Vaak (30–79%) | In 1 aandoening |
| TTNtitin | Vaak (30–79%) | In 1 aandoening |
| VARS1valyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| AARS1alanyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| ACTL6Bactin like 6B | Soms (5–29%) | In 1 aandoening |
| ADNPactivity dependent neuroprotector homeobox | Soms (5–29%) | In 1 aandoening |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Soms (5–29%) | In 1 aandoening |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Soms (5–29%) | In 1 aandoening |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Soms (5–29%) | In 1 aandoening |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Soms (5–29%) | In 1 aandoening |
| ATP6V1AATPase H+ transporting V1 subunit A | Soms (5–29%) | In 1 aandoening |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Soms (5–29%) | In 1 aandoening |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Soms (5–29%) | In 1 aandoening |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Soms (5–29%) | In 1 aandoening |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Soms (5–29%) | In 1 aandoening |
| CDK19cyclin dependent kinase 19 | Soms (5–29%) | In 1 aandoening |
| CLTCclathrin heavy chain | Soms (5–29%) | In 1 aandoening |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Soms (5–29%) | In 1 aandoening |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Soms (5–29%) | In 1 aandoening |
| DALRD3DALR anticodon binding domain containing 3 | Soms (5–29%) | In 1 aandoening |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Soms (5–29%) | In 1 aandoening |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Soms (5–29%) | In 1 aandoening |
| DHX16DEAH-box helicase 16 | Soms (5–29%) | In 1 aandoening |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Soms (5–29%) | In 1 aandoening |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Soms (5–29%) | In 1 aandoening |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| FBXO28F-box protein 28 | Soms (5–29%) | In 1 aandoening |
| FGF12fibroblast growth factor 12 | Soms (5–29%) | In 1 aandoening |
| FHfumarate hydratase | Soms (5–29%) | In 1 aandoening |
| FOXG1forkhead box G1 | Soms (5–29%) | In 1 aandoening |
| FZR1fizzy and cell division cycle 20 related 1 | Soms (5–29%) | In 1 aandoening |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Soms (5–29%) | In 1 aandoening |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Soms (5–29%) | In 1 aandoening |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Soms (5–29%) | In 1 aandoening |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Soms (5–29%) | In 1 aandoening |
| GALCgalactosylceramidase | Soms (5–29%) | In 1 aandoening |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Soms (5–29%) | In 1 aandoening |
| GNB5G protein subunit beta 5 | Soms (5–29%) | In 1 aandoening |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Soms (5–29%) | In 1 aandoening |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Soms (5–29%) | In 1 aandoening |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Soms (5–29%) | In 1 aandoening |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Soms (5–29%) | In 1 aandoening |
| IFIH1interferon induced with helicase C domain 1 | Soms (5–29%) | In 1 aandoening |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Soms (5–29%) | In 1 aandoening |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Soms (5–29%) | In 1 aandoening |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Soms (5–29%) | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Soms (5–29%) | In 1 aandoening |
| MYPNmyopalladin | Soms (5–29%) | In 1 aandoening |
| NACC1nucleus accumbens associated 1 | Soms (5–29%) | In 1 aandoening |
| NECAP1NECAP endocytosis associated 1 | Soms (5–29%) | In 1 aandoening |
| NGLY1N-glycanase 1 | Soms (5–29%) | In 1 aandoening |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Soms (5–29%) | In 1 aandoening |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Soms (5–29%) | In 1 aandoening |
| PACS2phosphofurin acidic cluster sorting protein 2 | Soms (5–29%) | In 1 aandoening |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| PET100PET100 cytochrome c oxidase chaperone | Soms (5–29%) | In 1 aandoening |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| PSAPprosaposin | Soms (5–29%) | In 1 aandoening |
| PTS6-pyruvoyltetrahydropterin synthase | Soms (5–29%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Soms (5–29%) | In 1 aandoening |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Soms (5–29%) | In 1 aandoening |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Soms (5–29%) | In 1 aandoening |
| SLC13A5solute carrier family 13 member 5 | Soms (5–29%) | In 1 aandoening |
| SLC16A2solute carrier family 16 member 2 | Soms (5–29%) | In 1 aandoening |
| SLC1A2solute carrier family 1 member 2 | Soms (5–29%) | In 1 aandoening |
| SLC38A3solute carrier family 38 member 3 | Soms (5–29%) | In 1 aandoening |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Soms (5–29%) | In 1 aandoening |
| SYNJ1synaptojanin 1 | Soms (5–29%) | In 1 aandoening |
| SZT2SZT2 subunit of KICSTOR complex | Soms (5–29%) | In 1 aandoening |
| TRAK1trafficking kinesin protein 1 | Soms (5–29%) | In 1 aandoening |
| UBA5ubiquitin like modifier activating enzyme 5 | Soms (5–29%) | In 1 aandoening |
| UFSP2UFM1 specific peptidase 2 | Soms (5–29%) | In 1 aandoening |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Soms (5–29%) | In 1 aandoening |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Zelden (1–4%) | In 1 aandoening |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Zelden (1–4%) | In 1 aandoening |
| SDHDsuccinate dehydrogenase complex subunit D | Zelden (1–4%) | In 1 aandoening |
| BOLA3bolA family member 3 | Niet vastgelegd | In 1 aandoening |
| DHFRdihydrofolate reductase | Niet vastgelegd | In 1 aandoening |
| EBF3EBF transcription factor 3 | Niet vastgelegd | In 1 aandoening |
| EXOSC3exosome component 3 | Niet vastgelegd | In 1 aandoening |
| GM2Aganglioside GM2 activator | Niet vastgelegd | In 1 aandoening |
| HEXAhexosaminidase subunit alpha | Niet vastgelegd | In 1 aandoening |
| MPZmyelin protein zero | Niet vastgelegd | In 1 aandoening |
| PCLOpiccolo presynaptic cytomatrix protein | Niet vastgelegd | In 1 aandoening |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Niet vastgelegd | In 1 aandoening |
| PMPCBpeptidase, mitochondrial processing subunit beta | Niet vastgelegd | In 1 aandoening |
| POMKprotein O-mannose kinase | Niet vastgelegd | In 1 aandoening |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| SMN1survival of motor neuron 1, telomeric | Niet vastgelegd | In 1 aandoening |
| TREX1three prime repair exonuclease 1 | Niet vastgelegd | In 1 aandoening |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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