Tunnus
Abnormal pyramidal sign
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Kokkuvõte
- Teised nimetused
- Corticospinal signs, Pyramidal signs, Pyramidal tract signs
- Kehasüsteem
- Abnormality of the nervous system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Abnormal pyramidal sign, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test213 geeni on seotud tunnusega Abnormal pyramidal sign
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Abnormal pyramidal sign. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ABCB1ATP binding cassette subfamily B member 1 | Alati | Esineb 1 haiguses |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Alati | Esineb 1 haiguses |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Alati | Esineb 1 haiguses |
| ASPAaspartoacylase | Alati | Esineb 1 haiguses |
| BCAP31B cell receptor associated protein 31 | Alati | Esineb 2 haiguses |
| CCT3chaperonin containing TCP1 subunit 3 | Alati | Esineb 1 haiguses |
| CHP1calcineurin like EF-hand protein 1 | Alati | Esineb 1 haiguses |
| FBXO7F-box protein 7 | Alati | Esineb 1 haiguses |
| HTRA1HtrA serine peptidase 1 | Alati | Esineb 2 haiguses |
| HTThuntingtin | Alati | Esineb 1 haiguses |
| KARS1lysyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| MAGmyelin associated glycoprotein | Alati | Esineb 2 haiguses |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Alati | Esineb 1 haiguses |
| NKX6-2NK6 homeobox 2 | Alati | Esineb 2 haiguses |
| NOTCH3notch receptor 3 | Alati | Esineb 1 haiguses |
| PLAAphospholipase A2 activating protein | Alati | Esineb 1 haiguses |
| POLR3BRNA polymerase III subunit B | Alati | Esineb 1 haiguses |
| RTTNrotatin | Alati | Esineb 2 haiguses |
| SLC19A3solute carrier family 19 member 3 | Alati | Esineb 1 haiguses |
| SLC25A15solute carrier family 25 member 15 | Alati | Esineb 2 haiguses |
| SNCAsynuclein alpha | Alati | Esineb 1 haiguses |
| SOD1superoxide dismutase 1 | Alati | Esineb 1 haiguses |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Alati | Esineb 1 haiguses |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ATP13A2ATPase cation transporting 13A2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| ATXN3ataxin 3 | Väga sageli (80–99%) | Esineb 3 haiguses |
| ERLIN2ER lipid raft associated 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GBE11,4-alpha-glucan branching enzyme 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GM2Aganglioside GM2 activator | Väga sageli (80–99%) | Esineb 2 haiguses |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MAPTmicrotubule associated protein tau | Väga sageli (80–99%) | Esineb 3 haiguses |
| NAGAalpha-N-acetylgalactosaminidase | Väga sageli (80–99%) | Esineb 1 haiguses |
| PANK2pantothenate kinase 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PEX7peroxisomal biogenesis factor 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PHYHphytanoyl-CoA 2-hydroxylase | Väga sageli (80–99%) | Esineb 1 haiguses |
| PLP1proteolipid protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SOX10SRY-box transcription factor 10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SPG21SPG21 abhydrolase domain containing, maspardin | Väga sageli (80–99%) | Esineb 1 haiguses |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBC1D24TBC1 domain family member 24 | Väga sageli (80–99%) | Esineb 1 haiguses |
Näita veel 173 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| THG1LtRNA-histidine guanylyltransferase 1 like | Väga sageli (80–99%) | Esineb 1 haiguses |
| TTPAalpha tocopherol transfer protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| UBTFupstream binding transcription factor | Väga sageli (80–99%) | Esineb 2 haiguses |
| VPS13Dvacuolar protein sorting 13 homolog D | Väga sageli (80–99%) | Esineb 2 haiguses |
| VPS41VPS41 subunit of HOPS complex | Väga sageli (80–99%) | Esineb 1 haiguses |
| ACADSacyl-CoA dehydrogenase short chain | Sageli (30–79%) | Esineb 1 haiguses |
| ADD3adducin 3 | Sageli (30–79%) | Esineb 1 haiguses |
| ADGRG1adhesion G protein-coupled receptor G1 | Sageli (30–79%) | Esineb 1 haiguses |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Sageli (30–79%) | Esineb 1 haiguses |
| ARXaristaless related homeobox | Sageli (30–79%) | Esineb 1 haiguses |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Sageli (30–79%) | Esineb 2 haiguses |
| C19orf12chromosome 19 open reading frame 12 | Sageli (30–79%) | Esineb 1 haiguses |
| CLPBClpB family mitochondrial disaggregase | Sageli (30–79%) | Esineb 1 haiguses |
| COA8cytochrome c oxidase assembly factor 8 | Sageli (30–79%) | Esineb 1 haiguses |
| COQ2coenzyme Q2, polyprenyltransferase | Sageli (30–79%) | Esineb 2 haiguses |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Sageli (30–79%) | Esineb 2 haiguses |
| DMXL2Dmx like 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Sageli (30–79%) | Esineb 2 haiguses |
| ETHE1ETHE1 persulfide dioxygenase | Sageli (30–79%) | Esineb 1 haiguses |
| FKRPfukutin related protein | Sageli (30–79%) | Esineb 1 haiguses |
| GBA2glucosylceramidase beta 2 | Sageli (30–79%) | Esineb 2 haiguses |
| GFAPglial fibrillary acidic protein | Sageli (30–79%) | Esineb 1 haiguses |
| GMPPBGDP-mannose pyrophosphorylase B | Sageli (30–79%) | Esineb 1 haiguses |
| HEXBhexosaminidase subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| HSPD1heat shock protein family D (Hsp60) member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IDUAalpha-L-iduronidase | Sageli (30–79%) | Esineb 2 haiguses |
| LIG3DNA ligase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| LMNB1lamin B1 | Sageli (30–79%) | Esineb 1 haiguses |
| MDH2malate dehydrogenase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| MTRFRmitochondrial translation release factor in rescue | Sageli (30–79%) | Esineb 1 haiguses |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Sageli (30–79%) | Esineb 3 haiguses |
| PEX10peroxisomal biogenesis factor 10 | Sageli (30–79%) | Esineb 1 haiguses |
| PLA2G6phospholipase A2 group VI | Sageli (30–79%) | Esineb 2 haiguses |
| PODXLpodocalyxin like | Sageli (30–79%) | Esineb 1 haiguses |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Sageli (30–79%) | Esineb 1 haiguses |
| POMKprotein O-mannose kinase | Sageli (30–79%) | Esineb 1 haiguses |
| POMT1protein O-mannosyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| POMT2protein O-mannosyltransferase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Sageli (30–79%) | Esineb 2 haiguses |
| PRNPprion protein (Kanno blood group) | Sageli (30–79%) | Esineb 2 haiguses |
| SACSsacsin molecular chaperone | Sageli (30–79%) | Esineb 1 haiguses |
| SETXsenataxin | Sageli (30–79%) | Esineb 3 haiguses |
| SLC16A2solute carrier family 16 member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC2A1solute carrier family 2 member 1 | Sageli (30–79%) | Esineb 4 haiguses |
| SLC6A3solute carrier family 6 member 3 | Sageli (30–79%) | Esineb 2 haiguses |
| SNORD118small nucleolar RNA, C/D box 118 | Sageli (30–79%) | Esineb 2 haiguses |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Sageli (30–79%) | Esineb 1 haiguses |
| SYNJ1synaptojanin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TACO1translational activator of cytochrome c oxidase I | Sageli (30–79%) | Esineb 1 haiguses |
| TAF2TATA-box binding protein associated factor 2 | Sageli (30–79%) | Esineb 2 haiguses |
| TBPTATA-box binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Sageli (30–79%) | Esineb 1 haiguses |
| TTRtransthyretin | Sageli (30–79%) | Esineb 1 haiguses |
| VAPBVAMP associated protein B and C | Sageli (30–79%) | Esineb 1 haiguses |
| VPS13Cvacuolar protein sorting 13 homolog C | Sageli (30–79%) | Esineb 1 haiguses |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| AARS1alanyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADARadenosine deaminase RNA specific | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATMATM serine/threonine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BMPR1Abone morphogenetic protein receptor type 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRCA2BRCA2 DNA repair associated | Mõnikord (5–29%) | Esineb 1 haiguses |
| C4Acomplement C4A (Chido/Rodgers blood group) | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CARS1cysteinyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CCR1C-C motif chemokine receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CD4CD4 molecule | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHEK2checkpoint kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CMPK2cytidine/uridine monophosphate kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COQ8Acoenzyme Q8A | Mõnikord (5–29%) | Esineb 2 haiguses |
| CTDP1CTD phosphatase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DBR1debranching RNA lariats 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPYSdihydropyrimidinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| EPCAMepithelial cell adhesion molecule | Mõnikord (5–29%) | Esineb 1 haiguses |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| FASFas cell surface death receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| FUCA1alpha-L-fucosidase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2E2general transcription factor IIE subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2H5general transcription factor IIH subunit 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-Bmajor histocompatibility complex, class I, B | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFIH1interferon induced with helicase C domain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFNGR1interferon gamma receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL10interleukin 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL12Ainterleukin 12A | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL12A-AS1IL12A antisense RNA 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL23Rinterleukin 23 receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| IRF4interferon regulatory factor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| JAM2junctional adhesion molecule 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| KIF1Ckinesin family member 1C | Mõnikord (5–29%) | Esineb 1 haiguses |
| KLRC4killer cell lectin like receptor C4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KMT2Blysine methyltransferase 2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Mõnikord (5–29%) | Esineb 1 haiguses |
| LSM11LSM11, U7 small nuclear RNA associated | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEFVMEFV innate immunity regulator, pyrin | Mõnikord (5–29%) | Esineb 1 haiguses |
| MLH1mutL homolog 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MORC2MORC family CW-type zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MPLKIPM-phase specific PLK1 interacting protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| MSH2mutS homolog 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MSH6mutS homolog 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MUTYHmutY DNA glycosylase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYORGmyogenesis regulating glycosidase | Mõnikord (5–29%) | Esineb 3 haiguses |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPATnuclear protein, coactivator of histone transcription | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDGFBplatelet derived growth factor subunit B | Mõnikord (5–29%) | Esineb 2 haiguses |
| PDGFRBplatelet derived growth factor receptor beta | Mõnikord (5–29%) | Esineb 2 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PMS1PMS1 homolog 1, mismatch repair system component | Mõnikord (5–29%) | Esineb 1 haiguses |
| PMS2PMS1 homolog 2, mismatch repair system component | Mõnikord (5–29%) | Esineb 1 haiguses |
| PNKPpolynucleotide kinase 3'-phosphatase | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLD1DNA polymerase delta 1, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLEDNA polymerase epsilon, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Mõnikord (5–29%) | Esineb 1 haiguses |
| RHOBTB2Rho related BTB domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNASEH1ribonuclease H1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| RNASEH2Aribonuclease H2 subunit A | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNASEH2Bribonuclease H2 subunit B | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNASEH2Cribonuclease H2 subunit C | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNF113Aring finger protein 113A | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU7-1RNA, U7 small nuclear 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RORARAR related orphan receptor A | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS20ribosomal protein S20 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| RRP12ribosomal RNA processing 12 homolog | Mõnikord (5–29%) | Esineb 1 haiguses |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEMA4Asemaphorin 4A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC1A3solute carrier family 1 member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC20A2solute carrier family 20 member 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SQSTM1sequestosome 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STAT4signal transducer and activator of transcription 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TARS1threonyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGFBR2transforming growth factor beta receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| THAP11THAP domain containing 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TLR4toll like receptor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM106Btransmembrane protein 106B | Mõnikord (5–29%) | Esineb 1 haiguses |
| TREX1three prime repair exonuclease 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBAC2UBA domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Harva (1–4%) | Esineb 1 haiguses |
| CAMTA1calmodulin binding transcription activator 1 | Harva (1–4%) | Esineb 1 haiguses |
| CHD2chromodomain helicase DNA binding protein 2 | Harva (1–4%) | Esineb 1 haiguses |
| NEXMIFneurite extension and migration factor | Harva (1–4%) | Esineb 1 haiguses |
| POU4F1POU class 4 homeobox 1 | Harva (1–4%) | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Harva (1–4%) | Esineb 2 haiguses |
| SLC6A1solute carrier family 6 member 1 | Harva (1–4%) | Esineb 1 haiguses |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| TTBK2tau tubulin kinase 2 | Harva (1–4%) | Esineb 1 haiguses |
| ATXN10ataxin 10 | Pole registreeritud | Esineb 1 haiguses |
| ATXN8ataxin 8 | Pole registreeritud | Esineb 1 haiguses |
| ATXN8OSATXN8 opposite strand lncRNA | Pole registreeritud | Esineb 1 haiguses |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Pole registreeritud | Esineb 1 haiguses |
| CTC1CST telomere replication complex component 1 | Pole registreeritud | Esineb 1 haiguses |
| ELOVL4ELOVL fatty acid elongase 4 | Pole registreeritud | Esineb 1 haiguses |
| GANgigaxonin | Pole registreeritud | Esineb 1 haiguses |
| GLRX5glutaredoxin 5 | Pole registreeritud | Esineb 1 haiguses |
| GRM1glutamate metabotropic receptor 1 | Pole registreeritud | Esineb 1 haiguses |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Pole registreeritud | Esineb 1 haiguses |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| MAN2B1mannosidase alpha class 2B member 1 | Pole registreeritud | Esineb 1 haiguses |
| NALCNsodium leak channel, non-selective | Pole registreeritud | Esineb 1 haiguses |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Pole registreeritud | Esineb 1 haiguses |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| SLC12A5solute carrier family 12 member 5 | Pole registreeritud | Esineb 1 haiguses |
| VWA3Bvon Willebrand factor A domain containing 3B | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast