Kenmerk
Loss of developmental milestones
Klinische naam: Developmental regression
Loss of developmental skills, as manifested by loss of developmental milestones.
Samenvatting
- Ook bekend als
- Mental deterioration in childhood, Loss of acquired milestones, Loss of milestones, Neurodevelopmental regression, Psychomotor regression, Psychomotor regression beginning in infancy, Psychomotor regression in infants, Psychomotor regression, progressive
- Lichaamssysteem
- Abnormality of the nervous system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Loss of developmental milestones 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 |
|---|---|---|
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| ACER3alkaline ceramidase 3 | Altijd | In 1 aandoening |
| ACOX1acyl-CoA oxidase 1 | Altijd | In 2 aandoeningen |
| AHDC1AT-hook DNA binding motif containing 1 | Altijd | In 1 aandoening |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Altijd | In 3 aandoeningen |
| ARHGEF9Cdc42 guanine nucleotide exchange factor 9 | Altijd | In 2 aandoeningen |
| ARV1ARV1 fatty acid homeostasis modulator | Altijd | In 1 aandoening |
| ATP11AATPase phospholipid transporting 11A | Altijd | In 1 aandoening |
| ATP5MKATP synthase membrane subunit k | Altijd | In 1 aandoening |
| ATP6V0CATPase H+ transporting V0 subunit c | Altijd | In 1 aandoening |
| ATP7AATPase copper transporting alpha | Altijd | In 2 aandoeningen |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Altijd | In 1 aandoening |
| CAMLGcalcium modulating ligand | Altijd | In 1 aandoening |
| CASP2caspase 2 | Altijd | In 1 aandoening |
| CCT3chaperonin containing TCP1 subunit 3 | Altijd | In 1 aandoening |
| CHD2chromodomain helicase DNA binding protein 2 | Altijd | In 2 aandoeningen |
| CLN8CLN8 transmembrane ER and ERGIC protein | Altijd | In 1 aandoening |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Altijd | In 1 aandoening |
| COX15cytochrome c oxidase assembly factor COX15 | Altijd | In 1 aandoening |
| COX4I1cytochrome c oxidase subunit 4I1 | Altijd | In 1 aandoening |
| COX6B1cytochrome c oxidase subunit 6B1 | Altijd | In 1 aandoening |
| CRLS1cardiolipin synthase 1 | Altijd | In 1 aandoening |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Altijd | In 1 aandoening |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| FAR1fatty acyl-CoA reductase 1 | Altijd | In 1 aandoening |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Altijd | In 1 aandoening |
| FGF12fibroblast growth factor 12 | Altijd | In 2 aandoeningen |
| FUCA1alpha-L-fucosidase 1 | Altijd | In 1 aandoening |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Altijd | In 3 aandoeningen |
| GABRB1gamma-aminobutyric acid type A receptor subunit beta1 | Altijd | In 1 aandoening |
| HEPHL1hephaestin like 1 | Altijd | In 1 aandoening |
| HEXBhexosaminidase subunit beta | Altijd | In 2 aandoeningen |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Altijd | In 1 aandoening |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Altijd | In 1 aandoening |
| HTThuntingtin | Altijd | In 1 aandoening |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Altijd | In 2 aandoeningen |
| KARS1lysyl-tRNA synthetase 1 | Altijd | In 2 aandoeningen |
| KCTD7potassium channel tetramerization domain containing 7 | Altijd | In 2 aandoeningen |
| LIPT1lipoyltransferase 1 | Altijd | In 1 aandoening |
| LNPKlunapark, ER junction formation factor | Altijd | In 1 aandoening |
Toon nog 407 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| MECP2methyl-CpG binding protein 2 | Altijd | In 4 aandoeningen |
| MFFmitochondrial fission factor | Altijd | In 2 aandoeningen |
| MPV17mitochondrial inner membrane protein MPV17 | Altijd | In 1 aandoening |
| MSL2MSL complex subunit 2 | Altijd | In 1 aandoening |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Altijd | In 1 aandoening |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Altijd | In 1 aandoening |
| MTRFRmitochondrial translation release factor in rescue | Altijd | In 2 aandoeningen |
| NALCNsodium leak channel, non-selective | Altijd | In 1 aandoening |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Altijd | In 1 aandoening |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Altijd | In 1 aandoening |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Altijd | In 1 aandoening |
| PET117PET117 cytochrome c oxidase chaperone | Altijd | In 1 aandoening |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altijd | In 4 aandoeningen |
| PLCB1phospholipase C beta 1 | Altijd | In 3 aandoeningen |
| PMPCBpeptidase, mitochondrial processing subunit beta | Altijd | In 1 aandoening |
| POLR3ARNA polymerase III subunit A | Altijd | In 2 aandoeningen |
| POLR3BRNA polymerase III subunit B | Altijd | In 1 aandoening |
| PSAPprosaposin | Altijd | In 5 aandoeningen |
| PTCD3pentatricopeptide repeat domain 3 | Altijd | In 1 aandoening |
| REEP1receptor accessory protein 1 | Altijd | In 1 aandoening |
| SCO1synthesis of cytochrome C oxidase 1 | Altijd | In 1 aandoening |
| SCO2synthesis of cytochrome C oxidase 2 | Altijd | In 2 aandoeningen |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Altijd | In 2 aandoeningen |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Altijd | In 2 aandoeningen |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Altijd | In 2 aandoeningen |
| SDHDsuccinate dehydrogenase complex subunit D | Altijd | In 2 aandoeningen |
| SERAC1serine active site containing 1 | Altijd | In 2 aandoeningen |
| SLC19A3solute carrier family 19 member 3 | Altijd | In 1 aandoening |
| SLC30A9solute carrier family 30 member 9 | Altijd | In 1 aandoening |
| SLC32A1solute carrier family 32 member 1 | Altijd | In 3 aandoeningen |
| SMPD1sphingomyelin phosphodiesterase 1 | Altijd | In 1 aandoening |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Altijd | In 1 aandoening |
| SURF1SURF1 cytochrome c oxidase assembly factor | Altijd | In 1 aandoening |
| SV2Asynaptic vesicle glycoprotein 2A | Altijd | In 1 aandoening |
| TACO1translational activator of cytochrome c oxidase I | Altijd | In 1 aandoening |
| TANGO2transport and golgi organization 2 homolog | Altijd | In 2 aandoeningen |
| TBC1D24TBC1 domain family member 24 | Altijd | In 4 aandoeningen |
| TRAPPC12trafficking protein particle complex subunit 12 | Altijd | In 2 aandoeningen |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Altijd | In 1 aandoening |
| TUBB4Atubulin beta 4A class IVa | Altijd | In 1 aandoening |
| UBTFupstream binding transcription factor | Altijd | In 2 aandoeningen |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| ZBTB18zinc finger and BTB domain containing 18 | Altijd | In 1 aandoening |
| ARXaristaless related homeobox | Heel vaak (80–99%) | In 2 aandoeningen |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Heel vaak (80–99%) | In 2 aandoeningen |
| CD4CD4 molecule | Heel vaak (80–99%) | In 1 aandoening |
| CDKL5cyclin dependent kinase like 5 | Heel vaak (80–99%) | In 4 aandoeningen |
| CNPY3canopy FGF signaling regulator 3 | Heel vaak (80–99%) | In 1 aandoening |
| COA8cytochrome c oxidase assembly factor 8 | Heel vaak (80–99%) | In 2 aandoeningen |
| DDB2damage specific DNA binding protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Heel vaak (80–99%) | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC5ERCC excision repair 5, endonuclease | Heel vaak (80–99%) | In 1 aandoening |
| ERLIN2ER lipid raft associated 2 | Heel vaak (80–99%) | In 1 aandoening |
| FOXG1forkhead box G1 | Heel vaak (80–99%) | In 3 aandoeningen |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Heel vaak (80–99%) | In 2 aandoeningen |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Heel vaak (80–99%) | In 3 aandoeningen |
| GLB1galactosidase beta 1 | Heel vaak (80–99%) | In 1 aandoening |
| GM2Aganglioside GM2 activator | Heel vaak (80–99%) | In 1 aandoening |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Heel vaak (80–99%) | In 1 aandoening |
| GUF1GTP binding elongation factor GUF1 | Heel vaak (80–99%) | In 1 aandoening |
| IBA57iron-sulfur cluster assembly factor IBA57 | Heel vaak (80–99%) | In 2 aandoeningen |
| IRF4interferon regulatory factor 4 | Heel vaak (80–99%) | In 1 aandoening |
| ISCA2iron-sulfur cluster assembly 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Heel vaak (80–99%) | In 1 aandoening |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| NAGAalpha-N-acetylgalactosaminidase | Heel vaak (80–99%) | In 2 aandoeningen |
| NAXDNAD(P)HX dehydratase | Heel vaak (80–99%) | In 2 aandoeningen |
| NTNG1netrin G1 | Heel vaak (80–99%) | In 1 aandoening |
| NTNG2netrin G2 | Heel vaak (80–99%) | In 1 aandoening |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| PCDH19protocadherin 19 | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX1peroxisomal biogenesis factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| PEX10peroxisomal biogenesis factor 10 | Heel vaak (80–99%) | In 1 aandoening |
| PEX11Bperoxisomal biogenesis factor 11 beta | Heel vaak (80–99%) | In 1 aandoening |
| PEX12peroxisomal biogenesis factor 12 | Heel vaak (80–99%) | In 1 aandoening |
| PEX13peroxisomal biogenesis factor 13 | Heel vaak (80–99%) | In 1 aandoening |
| PEX14peroxisomal biogenesis factor 14 | Heel vaak (80–99%) | In 1 aandoening |
| PEX16peroxisomal biogenesis factor 16 | Heel vaak (80–99%) | In 1 aandoening |
| PEX19peroxisomal biogenesis factor 19 | Heel vaak (80–99%) | In 1 aandoening |
| PEX2peroxisomal biogenesis factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| PEX26peroxisomal biogenesis factor 26 | Heel vaak (80–99%) | In 1 aandoening |
| PEX3peroxisomal biogenesis factor 3 | Heel vaak (80–99%) | In 1 aandoening |
| PEX5peroxisomal biogenesis factor 5 | Heel vaak (80–99%) | In 1 aandoening |
| PEX6peroxisomal biogenesis factor 6 | Heel vaak (80–99%) | In 1 aandoening |
| PHACTR1phosphatase and actin regulator 1 | Heel vaak (80–99%) | In 1 aandoening |
| PLA2G6phospholipase A2 group VI | Heel vaak (80–99%) | In 2 aandoeningen |
| RNU2-2RNA, U2 small nuclear 2 | Heel vaak (80–99%) | In 1 aandoening |
| ROGDIrogdi atypical leucine zipper | Heel vaak (80–99%) | In 2 aandoeningen |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Heel vaak (80–99%) | In 6 aandoeningen |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Heel vaak (80–99%) | In 5 aandoeningen |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Heel vaak (80–99%) | In 2 aandoeningen |
| SIK1salt inducible kinase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC12A5solute carrier family 12 member 5 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC13A5solute carrier family 13 member 5 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC25A22solute carrier family 25 member 22 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC29A3solute carrier family 29 member 3 | Heel vaak (80–99%) | In 1 aandoening |
| SLC9A6solute carrier family 9 member A6 | Heel vaak (80–99%) | In 1 aandoening |
| SMC1Astructural maintenance of chromosomes 1A | Heel vaak (80–99%) | In 1 aandoening |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Heel vaak (80–99%) | In 1 aandoening |
| SUMF1sulfatase modifying factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Heel vaak (80–99%) | In 1 aandoening |
| TNFRSF11ATNF receptor superfamily member 11a | Heel vaak (80–99%) | In 1 aandoening |
| TREM2triggering receptor expressed on myeloid cells 2 | Heel vaak (80–99%) | In 1 aandoening |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Heel vaak (80–99%) | In 1 aandoening |
| WDR45WD repeat domain 45 | Heel vaak (80–99%) | In 1 aandoening |
| XPAXPA, DNA damage recognition and repair factor | Heel vaak (80–99%) | In 1 aandoening |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Heel vaak (80–99%) | In 1 aandoening |
| ZBTB20zinc finger and BTB domain containing 20 | Heel vaak (80–99%) | In 1 aandoening |
| AARS1alanyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| ACTL6Bactin like 6B | Vaak (30–79%) | In 1 aandoening |
| ADA2adenosine deaminase 2 | Vaak (30–79%) | In 1 aandoening |
| ADARadenosine deaminase RNA specific | Vaak (30–79%) | In 3 aandoeningen |
| ADPRSADP-ribosylserine hydrolase | Vaak (30–79%) | In 1 aandoening |
| AHCYadenosylhomocysteinase | Vaak (30–79%) | In 1 aandoening |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Vaak (30–79%) | In 1 aandoening |
| ARSAarylsulfatase A | Vaak (30–79%) | In 3 aandoeningen |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Vaak (30–79%) | In 2 aandoeningen |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Vaak (30–79%) | In 1 aandoening |
| ATP6V1AATPase H+ transporting V1 subunit A | Vaak (30–79%) | In 1 aandoening |
| BCKDKbranched chain keto acid dehydrogenase kinase | Vaak (30–79%) | In 1 aandoening |
| BOLA3bolA family member 3 | Vaak (30–79%) | In 2 aandoeningen |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Vaak (30–79%) | In 2 aandoeningen |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Vaak (30–79%) | In 2 aandoeningen |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Vaak (30–79%) | In 1 aandoening |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| CDK19cyclin dependent kinase 19 | Vaak (30–79%) | In 1 aandoening |
| CELF2CUGBP Elav-like family member 2 | Vaak (30–79%) | In 1 aandoening |
| CHD8chromodomain helicase DNA binding protein 8 | Vaak (30–79%) | In 1 aandoening |
| CLPBClpB family mitochondrial disaggregase | Vaak (30–79%) | In 2 aandoeningen |
| CLTCclathrin heavy chain | Vaak (30–79%) | In 1 aandoening |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Vaak (30–79%) | In 1 aandoening |
| COG8component of oligomeric golgi complex 8 | Vaak (30–79%) | In 2 aandoeningen |
| COQ8Acoenzyme Q8A | Vaak (30–79%) | In 1 aandoening |
| CPLX1complexin 1 | Vaak (30–79%) | In 1 aandoening |
| CTNNB1catenin beta 1 | Vaak (30–79%) | In 1 aandoening |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Vaak (30–79%) | In 1 aandoening |
| DALRD3DALR anticodon binding domain containing 3 | Vaak (30–79%) | In 1 aandoening |
| DEAF1DEAF1 transcription factor | Vaak (30–79%) | In 2 aandoeningen |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Vaak (30–79%) | In 1 aandoening |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Vaak (30–79%) | In 1 aandoening |
| DNM1dynamin 1 | Vaak (30–79%) | In 3 aandoeningen |
| DNM1Ldynamin 1L | Vaak (30–79%) | In 2 aandoeningen |
| DTYMKdeoxythymidylate kinase | Vaak (30–79%) | In 1 aandoening |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Vaak (30–79%) | In 1 aandoening |
| ETHE1ETHE1 persulfide dioxygenase | Vaak (30–79%) | In 2 aandoeningen |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Vaak (30–79%) | In 1 aandoening |
| FBXO28F-box protein 28 | Vaak (30–79%) | In 2 aandoeningen |
| FDXRferredoxin reductase | Vaak (30–79%) | In 2 aandoeningen |
| FRRS1Lferric chelate reductase 1 like | Vaak (30–79%) | In 1 aandoening |
| FZR1fizzy and cell division cycle 20 related 1 | Vaak (30–79%) | In 1 aandoening |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Vaak (30–79%) | In 1 aandoening |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Vaak (30–79%) | In 1 aandoening |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Vaak (30–79%) | In 1 aandoening |
| GALCgalactosylceramidase | Vaak (30–79%) | In 2 aandoeningen |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Vaak (30–79%) | In 3 aandoeningen |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Vaak (30–79%) | In 1 aandoening |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Vaak (30–79%) | In 2 aandoeningen |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Vaak (30–79%) | In 1 aandoening |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Vaak (30–79%) | In 1 aandoening |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Vaak (30–79%) | In 2 aandoeningen |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| IFIH1interferon induced with helicase C domain 1 | Vaak (30–79%) | In 2 aandoeningen |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Vaak (30–79%) | In 1 aandoening |
| ISCA1iron-sulfur cluster assembly 1 | Vaak (30–79%) | In 2 aandoeningen |
| JKAMPJNK1/MAPK8 associated membrane protein | Vaak (30–79%) | In 1 aandoening |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Vaak (30–79%) | In 1 aandoening |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Vaak (30–79%) | In 1 aandoening |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Vaak (30–79%) | In 1 aandoening |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Vaak (30–79%) | In 2 aandoeningen |
| KLHL20kelch like family member 20 | Vaak (30–79%) | In 1 aandoening |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Vaak (30–79%) | In 1 aandoening |
| LRPPRCleucine rich pentatricopeptide repeat containing | Vaak (30–79%) | In 1 aandoening |
| LSM11LSM11, U7 small nuclear RNA associated | Vaak (30–79%) | In 1 aandoening |
| LYRM7LYR motif containing 7 | Vaak (30–79%) | In 1 aandoening |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Vaak (30–79%) | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Vaak (30–79%) | In 2 aandoeningen |
| MED27mediator complex subunit 27 | Vaak (30–79%) | In 1 aandoening |
| MRPL39mitochondrial ribosomal protein L39 | Vaak (30–79%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Vaak (30–79%) | In 2 aandoeningen |
| NAXENAD(P)HX epimerase | Vaak (30–79%) | In 2 aandoeningen |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Vaak (30–79%) | In 1 aandoening |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Vaak (30–79%) | In 1 aandoening |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Vaak (30–79%) | In 1 aandoening |
| NECAP1NECAP endocytosis associated 1 | Vaak (30–79%) | In 1 aandoening |
| NFU1NFU1 iron-sulfur cluster scaffold | Vaak (30–79%) | In 3 aandoeningen |
| NGLY1N-glycanase 1 | Vaak (30–79%) | In 1 aandoening |
| NKX6-2NK6 homeobox 2 | Vaak (30–79%) | In 1 aandoening |
| NUP214nucleoporin 214 | Vaak (30–79%) | In 1 aandoening |
| NUP54nucleoporin 54 | Vaak (30–79%) | In 1 aandoening |
| NUP62nucleoporin 62 | Vaak (30–79%) | In 2 aandoeningen |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Vaak (30–79%) | In 1 aandoening |
| PACS2phosphofurin acidic cluster sorting protein 2 | Vaak (30–79%) | In 1 aandoening |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| PDE2Aphosphodiesterase 2A | Vaak (30–79%) | In 1 aandoening |
| PEX7peroxisomal biogenesis factor 7 | Vaak (30–79%) | In 1 aandoening |
| PGBD5piggyBac transposable element derived 5 | Vaak (30–79%) | In 1 aandoening |
| PHYHphytanoyl-CoA 2-hydroxylase | Vaak (30–79%) | In 1 aandoening |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Vaak (30–79%) | In 1 aandoening |
| POLGDNA polymerase gamma, catalytic subunit | Vaak (30–79%) | In 2 aandoeningen |
| POLR1ARNA polymerase I subunit A | Vaak (30–79%) | In 2 aandoeningen |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Vaak (30–79%) | In 2 aandoeningen |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Vaak (30–79%) | In 1 aandoening |
| PYCR2pyrroline-5-carboxylate reductase 2 | Vaak (30–79%) | In 1 aandoening |
| RANBP2RAN binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Vaak (30–79%) | In 2 aandoeningen |
| RNASEH2Aribonuclease H2 subunit A | Vaak (30–79%) | In 1 aandoening |
| RNASEH2Bribonuclease H2 subunit B | Vaak (30–79%) | In 1 aandoening |
| RNASEH2Cribonuclease H2 subunit C | Vaak (30–79%) | In 1 aandoening |
| RNU7-1RNA, U7 small nuclear 1 | Vaak (30–79%) | In 1 aandoening |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Vaak (30–79%) | In 1 aandoening |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Vaak (30–79%) | In 1 aandoening |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Vaak (30–79%) | In 3 aandoeningen |
| SLC1A2solute carrier family 1 member 2 | Vaak (30–79%) | In 2 aandoeningen |
| SLC38A3solute carrier family 38 member 3 | Vaak (30–79%) | In 1 aandoening |
| SLC39A14solute carrier family 39 member 14 | Vaak (30–79%) | In 2 aandoeningen |
| SONSON DNA and RNA binding protein | Vaak (30–79%) | In 2 aandoeningen |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Vaak (30–79%) | In 3 aandoeningen |
| SYNJ1synaptojanin 1 | Vaak (30–79%) | In 1 aandoening |
| SZT2SZT2 subunit of KICSTOR complex | Vaak (30–79%) | In 1 aandoening |
| TBC1D2BTBC1 domain family member 2B | Vaak (30–79%) | In 1 aandoening |
| TBCDtubulin folding cofactor D | Vaak (30–79%) | In 2 aandoeningen |
| TBCEtubulin folding cofactor E | Vaak (30–79%) | In 1 aandoening |
| TBCKTBC1 domain containing kinase | Vaak (30–79%) | In 2 aandoeningen |
| TRAK1trafficking kinesin protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| TREX1three prime repair exonuclease 1 | Vaak (30–79%) | In 1 aandoening |
| UBA5ubiquitin like modifier activating enzyme 5 | Vaak (30–79%) | In 1 aandoening |
| UFSP2UFM1 specific peptidase 2 | Vaak (30–79%) | In 1 aandoening |
| WASF1WASP family member 1 | Vaak (30–79%) | In 1 aandoening |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Vaak (30–79%) | In 1 aandoening |
| AAASaladin WD repeat nucleoporin | Soms (5–29%) | In 1 aandoening |
| ADGRV1adhesion G protein-coupled receptor V1 | Soms (5–29%) | In 1 aandoening |
| ADNPactivity dependent neuroprotector homeobox | Soms (5–29%) | In 1 aandoening |
| AMNamnion associated transmembrane protein | Soms (5–29%) | In 1 aandoening |
| ASAH1N-acylsphingosine amidohydrolase 1 | Soms (5–29%) | In 1 aandoening |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Soms (5–29%) | In 1 aandoening |
| ATMATM serine/threonine kinase | Soms (5–29%) | In 1 aandoening |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Soms (5–29%) | In 1 aandoening |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Soms (5–29%) | In 1 aandoening |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Soms (5–29%) | In 1 aandoening |
| BMPR1Abone morphogenetic protein receptor type 1A | Soms (5–29%) | In 1 aandoening |
| BORCS8BLOC-1 related complex subunit 8 | Soms (5–29%) | In 1 aandoening |
| BRCA2BRCA2 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Soms (5–29%) | In 1 aandoening |
| C4Acomplement C4A (Chido/Rodgers blood group) | Soms (5–29%) | In 1 aandoening |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Soms (5–29%) | In 1 aandoening |
| CASKcalcium/calmodulin dependent serine protein kinase | Soms (5–29%) | In 1 aandoening |
| CCR1C-C motif chemokine receptor 1 | Soms (5–29%) | In 1 aandoening |
| CD40LGCD40 ligand | Soms (5–29%) | In 1 aandoening |
| CHEK2checkpoint kinase 2 | Soms (5–29%) | In 1 aandoening |
| CHMP1Acharged multivesicular body protein 1A | Soms (5–29%) | In 1 aandoening |
| CICcapicua transcriptional repressor | Soms (5–29%) | In 1 aandoening |
| CISD2CDGSH iron sulfur domain 2 | Soms (5–29%) | In 1 aandoening |
| CLIP2CAP-Gly domain containing linker protein 2 | Soms (5–29%) | In 1 aandoening |
| CPA6carboxypeptidase A6 | Soms (5–29%) | In 1 aandoening |
| CUBNcubilin | Soms (5–29%) | In 1 aandoening |
| CUX2cut like homeobox 2 | Soms (5–29%) | In 2 aandoeningen |
| DMXL2Dmx like 2 | Soms (5–29%) | In 1 aandoening |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Soms (5–29%) | In 1 aandoening |
| DNMT3ADNA methyltransferase 3 alpha | Soms (5–29%) | In 1 aandoening |
| EHMT1euchromatic histone lysine methyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| EIF3Feukaryotic translation initiation factor 3 subunit F | Soms (5–29%) | In 1 aandoening |
| EIF4Heukaryotic translation initiation factor 4H | Soms (5–29%) | In 1 aandoening |
| ELNelastin | Soms (5–29%) | In 1 aandoening |
| EPCAMepithelial cell adhesion molecule | Soms (5–29%) | In 1 aandoening |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Soms (5–29%) | In 1 aandoening |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| FASFas cell surface death receptor | Soms (5–29%) | In 1 aandoening |
| FBXO11F-box protein 11 | Soms (5–29%) | In 1 aandoening |
| FBXO22F-box protein 22 | Soms (5–29%) | In 1 aandoening |
| FGF13fibroblast growth factor 13 | Soms (5–29%) | In 2 aandoeningen |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Soms (5–29%) | In 1 aandoening |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Soms (5–29%) | In 1 aandoening |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Soms (5–29%) | In 1 aandoening |
| GAMTguanidinoacetate N-methyltransferase | Soms (5–29%) | In 1 aandoening |
| GCDHglutaryl-CoA dehydrogenase | Soms (5–29%) | In 2 aandoeningen |
| GLAgalactosidase alpha | Soms (5–29%) | In 1 aandoening |
| GLRX5glutaredoxin 5 | Soms (5–29%) | In 1 aandoening |
| GMPPAGDP-mannose pyrophosphorylase A | Soms (5–29%) | In 1 aandoening |
| GNAO1G protein subunit alpha o1 | Soms (5–29%) | In 1 aandoening |
| GNB1G protein subunit beta 1 | Soms (5–29%) | In 2 aandoeningen |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Soms (5–29%) | In 2 aandoeningen |
| GRM7glutamate metabotropic receptor 7 | Soms (5–29%) | In 1 aandoening |
| GTF2Igeneral transcription factor IIi | Soms (5–29%) | In 1 aandoening |
| GTF2IRD1GTF2I repeat domain containing 1 | Soms (5–29%) | In 1 aandoening |
| GTF2IRD2GTF2I repeat domain containing 2 | Soms (5–29%) | In 1 aandoening |
| H3-3AH3.3 histone A | Soms (5–29%) | In 1 aandoening |
| HLA-Bmajor histocompatibility complex, class I, B | Soms (5–29%) | In 1 aandoening |
| IFNGR1interferon gamma receptor 1 | Soms (5–29%) | In 1 aandoening |
| IL10interleukin 10 | Soms (5–29%) | In 1 aandoening |
| IL12Ainterleukin 12A | Soms (5–29%) | In 1 aandoening |
| IL12A-AS1IL12A antisense RNA 1 | Soms (5–29%) | In 1 aandoening |
| IL23Rinterleukin 23 receptor | Soms (5–29%) | In 1 aandoening |
| IPO8importin 8 | Soms (5–29%) | In 1 aandoening |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Soms (5–29%) | In 1 aandoening |
| KDM6Blysine demethylase 6B | Soms (5–29%) | In 1 aandoening |
| KICS2KICSTOR subunit 2 | Soms (5–29%) | In 1 aandoening |
| KLRC4killer cell lectin like receptor C4 | Soms (5–29%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Soms (5–29%) | In 1 aandoening |
| LGI1leucine rich glioma inactivated 1 | Soms (5–29%) | In 1 aandoening |
| LIMK1LIM domain kinase 1 | Soms (5–29%) | In 1 aandoening |
| MAPK10mitogen-activated protein kinase 10 | Soms (5–29%) | In 1 aandoening |
| MAU2MAU2 sister chromatid cohesion factor | Soms (5–29%) | In 1 aandoening |
| MEFVMEFV innate immunity regulator, pyrin | Soms (5–29%) | In 1 aandoening |
| METTL27methyltransferase like 27 | Soms (5–29%) | In 1 aandoening |
| MLH1mutL homolog 1 | Soms (5–29%) | In 1 aandoening |
| MSH2mutS homolog 2 | Soms (5–29%) | In 1 aandoening |
| MSH6mutS homolog 6 | Soms (5–29%) | In 1 aandoening |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Soms (5–29%) | In 1 aandoening |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Soms (5–29%) | In 1 aandoening |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Soms (5–29%) | In 1 aandoening |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Soms (5–29%) | In 1 aandoening |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Soms (5–29%) | In 1 aandoening |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Soms (5–29%) | In 1 aandoening |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Soms (5–29%) | In 1 aandoening |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Soms (5–29%) | In 1 aandoening |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Soms (5–29%) | In 1 aandoening |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Soms (5–29%) | In 1 aandoening |
| MUTYHmutY DNA glycosylase | Soms (5–29%) | In 1 aandoening |
| NACC1nucleus accumbens associated 1 | Soms (5–29%) | In 1 aandoening |
| NBEAneurobeachin | Soms (5–29%) | In 1 aandoening |
| NCF1neutrophil cytosolic factor 1 | Soms (5–29%) | In 1 aandoening |
| NDPnorrin cystine knot growth factor NDP | Soms (5–29%) | In 1 aandoening |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Soms (5–29%) | In 1 aandoening |
| NEU1neuraminidase 1 | Soms (5–29%) | In 1 aandoening |
| NEUROD2neuronal differentiation 2 | Soms (5–29%) | In 1 aandoening |
| NPATnuclear protein, coactivator of histone transcription | Soms (5–29%) | In 1 aandoening |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Soms (5–29%) | In 1 aandoening |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Soms (5–29%) | In 1 aandoening |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Soms (5–29%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| PLP1proteolipid protein 1 | Soms (5–29%) | In 1 aandoening |
| PMS1PMS1 homolog 1, mismatch repair system component | Soms (5–29%) | In 1 aandoening |
| PMS2PMS1 homolog 2, mismatch repair system component | Soms (5–29%) | In 1 aandoening |
| PNKPpolynucleotide kinase 3'-phosphatase | Soms (5–29%) | In 1 aandoening |
| POC1APOC1 centriolar protein A | Soms (5–29%) | In 1 aandoening |
| POLD1DNA polymerase delta 1, catalytic subunit | Soms (5–29%) | In 1 aandoening |
| POLEDNA polymerase epsilon, catalytic subunit | Soms (5–29%) | In 1 aandoening |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| PRRT2proline rich transmembrane protein 2 | Soms (5–29%) | In 1 aandoening |
| RFC2replication factor C subunit 2 | Soms (5–29%) | In 1 aandoening |
| RPS20ribosomal protein S20 | Soms (5–29%) | In 1 aandoening |
| RPS6KC1ribosomal protein S6 kinase C1 | Soms (5–29%) | In 1 aandoening |
| SATB1SATB homeobox 1 | Soms (5–29%) | In 2 aandoeningen |
| SEMA4Asemaphorin 4A | Soms (5–29%) | In 1 aandoening |
| SGPL1sphingosine-1-phosphate lyase 1 | Soms (5–29%) | In 1 aandoening |
| SLC4A10solute carrier family 4 member 10 | Soms (5–29%) | In 1 aandoening |
| SNF8SNF8 subunit of ESCRT-II | Soms (5–29%) | In 1 aandoening |
| SPTBN1spectrin beta, non-erythrocytic 1 | Soms (5–29%) | In 1 aandoening |
| STAT4signal transducer and activator of transcription 4 | Soms (5–29%) | In 1 aandoening |
| STX1Asyntaxin 1A | Soms (5–29%) | In 1 aandoening |
| STX1Bsyntaxin 1B | Soms (5–29%) | In 1 aandoening |
| STXBP1syntaxin binding protein 1 | Soms (5–29%) | In 2 aandoeningen |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Soms (5–29%) | In 1 aandoening |
| TBL2transducin beta like 2 | Soms (5–29%) | In 1 aandoening |
| TCEAL1transcription elongation factor A like 1 | Soms (5–29%) | In 1 aandoening |
| TFE3transcription factor binding to IGHM enhancer 3 | Soms (5–29%) | In 1 aandoening |
| TGFBR2transforming growth factor beta receptor 2 | Soms (5–29%) | In 1 aandoening |
| TLR4toll like receptor 4 | Soms (5–29%) | In 1 aandoening |
| TMEM270transmembrane protein 270 | Soms (5–29%) | In 1 aandoening |
| TPK1thiamin pyrophosphokinase 1 | Soms (5–29%) | In 1 aandoening |
| TRAPPC11trafficking protein particle complex subunit 11 | Soms (5–29%) | In 1 aandoening |
| TRIM8tripartite motif containing 8 | Soms (5–29%) | In 1 aandoening |
| TTPAalpha tocopherol transfer protein | Soms (5–29%) | In 1 aandoening |
| UBAC2UBA domain containing 2 | Soms (5–29%) | In 1 aandoening |
| UBAP2Lubiquitin associated protein 2 like | Soms (5–29%) | In 1 aandoening |
| UGP2UDP-glucose pyrophosphorylase 2 | Soms (5–29%) | In 1 aandoening |
| VPS37DVPS37D subunit of ESCRT-I | Soms (5–29%) | In 1 aandoening |
| WFS1wolframin ER transmembrane glycoprotein | Soms (5–29%) | In 1 aandoening |
| WLSWnt ligand secretion mediator | Soms (5–29%) | In 1 aandoening |
| ZNF699zinc finger protein 699 | Soms (5–29%) | In 1 aandoening |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Zelden (1–4%) | In 1 aandoening |
| DPYSdihydropyrimidinase | Zelden (1–4%) | In 1 aandoening |
| FBXW7F-box and WD repeat domain containing 7 | Zelden (1–4%) | In 1 aandoening |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Zelden (1–4%) | In 1 aandoening |
| MMACHCmetabolism of cobalamin associated C | Zelden (1–4%) | In 1 aandoening |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Zelden (1–4%) | In 1 aandoening |
| AGAaspartylglucosaminidase | Niet vastgelegd | In 1 aandoening |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Niet vastgelegd | In 1 aandoening |
| ASPAaspartoacylase | Niet vastgelegd | In 1 aandoening |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Niet vastgelegd | In 1 aandoening |
| CLN5CLN5 lysosomal BMP synthase | Niet vastgelegd | In 1 aandoening |
| COASYCoenzyme A synthase | Niet vastgelegd | In 1 aandoening |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Niet vastgelegd | In 1 aandoening |
| FITM2fat storage inducing transmembrane protein 2 | Niet vastgelegd | In 1 aandoening |
| FOLR1folate receptor alpha | Niet vastgelegd | In 1 aandoening |
| GFAPglial fibrillary acidic protein | Niet vastgelegd | In 1 aandoening |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Niet vastgelegd | In 1 aandoening |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Niet vastgelegd | In 1 aandoening |
| KCNT2potassium sodium-activated channel subfamily T member 2 | Niet vastgelegd | In 1 aandoening |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Niet vastgelegd | In 1 aandoening |
| MRPS34mitochondrial ribosomal protein S34 | Niet vastgelegd | In 1 aandoening |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Niet vastgelegd | In 1 aandoening |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Niet vastgelegd | In 1 aandoening |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Niet vastgelegd | In 1 aandoening |
| NRXN1neurexin 1 | Niet vastgelegd | In 1 aandoening |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Niet vastgelegd | In 1 aandoening |
| SEMA6Bsemaphorin 6B | Niet vastgelegd | In 1 aandoening |
| SIN3ASIN3 transcription regulator family member A | Niet vastgelegd | In 1 aandoening |
| SLC25A42solute carrier family 25 member 42 | Niet vastgelegd | In 1 aandoening |
| TPP1tripeptidyl peptidase 1 | Niet vastgelegd | In 1 aandoening |
| TUFMTu translation elongation factor, mitochondrial | Niet vastgelegd | In 1 aandoening |
| VAC14VAC14 component of PIKFYVE complex | 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.
Smallere kenmerken
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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