Požymis
Broad head shape
Klinikinis pavadinimas: Brachycephaly
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Santrauka
- Taip pat vadinama
- Broad skull shape, Short and broad skull, Wide head shape, Wide skull shape
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Broad head shape, and the rest of your genome, with one test.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test256 genų susiję su Broad head shape
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Broad head shape. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ALX1ALX homeobox 1 | Visada | 1 ligoje |
| ALX4ALX homeobox 4 | Visada | 3 ligose |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Visada | 2 ligose |
| CCDC47coiled-coil domain containing 47 | Visada | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Visada | 1 ligoje |
| DHRS3dehydrogenase/reductase 3 | Visada | 1 ligoje |
| DRG1developmentally regulated GTP binding protein 1 | Visada | 1 ligoje |
| DSEdermatan sulfate epimerase | Visada | 1 ligoje |
| ERI1exoribonuclease 1 | Visada | 1 ligoje |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Visada | 1 ligoje |
| GET4guided entry of tail-anchored proteins factor 4 | Visada | 1 ligoje |
| GNB2G protein subunit beta 2 | Visada | 1 ligoje |
| GOLGA2golgin A2 | Visada | 1 ligoje |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Visada | 2 ligose |
| GTPBP2GTP binding protein 2 | Visada | 1 ligoje |
| IKZF2IKAROS family zinc finger 2 | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| KIDINS220kinase D interacting substrate 220 | Visada | 1 ligoje |
| LIG4DNA ligase 4 | Visada | 2 ligose |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Visada | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Visada | 3 ligose |
| PRMT7protein arginine methyltransferase 7 | Visada | 1 ligoje |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Visada | 1 ligoje |
| PTRH2peptidyl-tRNA hydrolase 2 | Visada | 2 ligose |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Visada | 3 ligose |
| SLC25A24solute carrier family 25 member 24 | Visada | 2 ligose |
| SMSspermine synthase | Visada | 2 ligose |
| TAF8TATA-box binding protein associated factor 8 | Visada | 1 ligoje |
| TECPR2tectonin beta-propeller repeat containing 2 | Visada | 2 ligose |
| TGFB3transforming growth factor beta 3 | Visada | 1 ligoje |
| TMCO1transmembrane and coiled-coil domains 1 | Visada | 2 ligose |
| TTC8tetratricopeptide repeat domain 8 | Visada | 1 ligoje |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Visada | 1 ligoje |
| ADSLadenylosuccinate lyase | Labai dažnai (80–99%) | 2 ligose |
| B3GLCTbeta 3-glucosyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| BRD4bromodomain containing 4 | Labai dažnai (80–99%) | 1 ligoje |
| CDH11cadherin 11 | Labai dažnai (80–99%) | 2 ligose |
| CHD6chromodomain helicase DNA binding protein 6 | Labai dažnai (80–99%) | 1 ligoje |
| COL11A1collagen type XI alpha 1 chain | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 216 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| EFNB1ephrin B1 | Labai dažnai (80–99%) | 2 ligose |
| EHMT1euchromatic histone lysine methyltransferase 1 | Labai dažnai (80–99%) | 3 ligose |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Labai dažnai (80–99%) | 2 ligose |
| EXT2exostosin glycosyltransferase 2 | Labai dažnai (80–99%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Labai dažnai (80–99%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Labai dažnai (80–99%) | 7 ligose |
| FGFR3fibroblast growth factor receptor 3 | Labai dažnai (80–99%) | 6 ligose |
| FUCA1alpha-L-fucosidase 1 | Labai dažnai (80–99%) | 1 ligoje |
| HDAC8histone deacetylase 8 | Labai dažnai (80–99%) | 2 ligose |
| IL11RAinterleukin 11 receptor subunit alpha | Labai dažnai (80–99%) | 1 ligoje |
| LRP5LDL receptor related protein 5 | Labai dažnai (80–99%) | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Labai dažnai (80–99%) | 2 ligose |
| NBASNBAS subunit of NRZ tethering complex | Labai dažnai (80–99%) | 1 ligoje |
| NIPBLNIPBL cohesin loading factor | Labai dažnai (80–99%) | 2 ligose |
| PHF21APHD finger protein 21A | Labai dažnai (80–99%) | 1 ligoje |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Labai dažnai (80–99%) | 2 ligose |
| RAD21RAD21 cohesin complex component | Labai dažnai (80–99%) | 2 ligose |
| RAI1retinoic acid induced 1 | Labai dažnai (80–99%) | 2 ligose |
| RECQL4RecQ like helicase 4 | Labai dažnai (80–99%) | 2 ligose |
| RNU12RNA, U12 small nuclear | Labai dažnai (80–99%) | 2 ligose |
| SMC1Astructural maintenance of chromosomes 1A | Labai dažnai (80–99%) | 2 ligose |
| SMC3structural maintenance of chromosomes 3 | Labai dažnai (80–99%) | 2 ligose |
| TBCKTBC1 domain containing kinase | Labai dažnai (80–99%) | 1 ligoje |
| TCF12transcription factor 12 | Labai dažnai (80–99%) | 1 ligoje |
| TRAPPC9trafficking protein particle complex subunit 9 | Labai dažnai (80–99%) | 1 ligoje |
| TWIST1twist family bHLH transcription factor 1 | Labai dažnai (80–99%) | 4 ligose |
| UBE3Bubiquitin protein ligase E3B | Labai dažnai (80–99%) | 2 ligose |
| ZIC1Zic family zinc finger 1 | Labai dažnai (80–99%) | 3 ligose |
| ZSWIM6zinc finger SWIM-type containing 6 | Labai dažnai (80–99%) | 2 ligose |
| ADAMTSL1ADAMTS like 1 | Dažnai (30–79%) | 1 ligoje |
| ANKRD11ankyrin repeat domain 11 | Dažnai (30–79%) | 1 ligoje |
| AUTS2activator of transcription and developmental regulator AUTS2 | Dažnai (30–79%) | 1 ligoje |
| BCL11ABCL11 transcription factor A | Dažnai (30–79%) | 1 ligoje |
| BRPF1bromodomain and PHD finger containing 1 | Dažnai (30–79%) | 1 ligoje |
| CASZ1castor zinc finger 1 | Dažnai (30–79%) | 1 ligoje |
| CTU2cytosolic thiouridylase subunit 2 | Dažnai (30–79%) | 1 ligoje |
| DDX3XDEAD-box helicase 3 X-linked | Dažnai (30–79%) | 1 ligoje |
| FKTNfukutin | Dažnai (30–79%) | 1 ligoje |
| FREM1FRAS1 related extracellular matrix 1 | Dažnai (30–79%) | 1 ligoje |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Dažnai (30–79%) | 1 ligoje |
| HDAC4histone deacetylase 4 | Dažnai (30–79%) | 1 ligoje |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Dažnai (30–79%) | 1 ligoje |
| HSPA9heat shock protein family A (Hsp70) member 9 | Dažnai (30–79%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Dažnai (30–79%) | 1 ligoje |
| IRX5iroquois homeobox 5 | Dažnai (30–79%) | 1 ligoje |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Dažnai (30–79%) | 1 ligoje |
| KDM1Alysine demethylase 1A | Dažnai (30–79%) | 1 ligoje |
| LUZP1leucine zipper protein 1 | Dažnai (30–79%) | 1 ligoje |
| MAFMAF bZIP transcription factor | Dažnai (30–79%) | 2 ligose |
| MBD5methyl-CpG binding domain protein 5 | Dažnai (30–79%) | 2 ligose |
| MMP14matrix metallopeptidase 14 | Dažnai (30–79%) | 1 ligoje |
| MMP2matrix metallopeptidase 2 | Dažnai (30–79%) | 2 ligose |
| MMP23Bmatrix metallopeptidase 23B | Dažnai (30–79%) | 1 ligoje |
| OTUD6BOTU deubiquitinase 6B | Dažnai (30–79%) | 2 ligose |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Dažnai (30–79%) | 1 ligoje |
| PDE4Dphosphodiesterase 4D | Dažnai (30–79%) | 2 ligose |
| PDPNpodoplanin | Dažnai (30–79%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Dažnai (30–79%) | 2 ligose |
| POLR2ARNA polymerase II subunit A | Dažnai (30–79%) | 1 ligoje |
| POLR3ARNA polymerase III subunit A | Dažnai (30–79%) | 1 ligoje |
| PQBP1polyglutamine binding protein 1 | Dažnai (30–79%) | 2 ligose |
| PRDM16PR/SET domain 16 | Dažnai (30–79%) | 1 ligoje |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Dažnai (30–79%) | 2 ligose |
| PRKCZprotein kinase C zeta | Dažnai (30–79%) | 1 ligoje |
| PRKD1protein kinase D1 | Dažnai (30–79%) | 1 ligoje |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Dažnai (30–79%) | 1 ligoje |
| RELREL proto-oncogene, NF-kB subunit | Dažnai (30–79%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Dažnai (30–79%) | 1 ligoje |
| SETD5SET domain containing 5 | Dažnai (30–79%) | 2 ligose |
| SH3PXD2BSH3 and PX domains 2B | Dažnai (30–79%) | 1 ligoje |
| SKISKI proto-oncogene | Dažnai (30–79%) | 1 ligoje |
| SPENspen family transcriptional repressor | Dažnai (30–79%) | 1 ligoje |
| SPOPspeckle type BTB/POZ protein | Dažnai (30–79%) | 1 ligoje |
| TBL1XR1TBL1X/Y related 1 | Dažnai (30–79%) | 2 ligose |
| TET3tet methylcytosine dioxygenase 3 | Dažnai (30–79%) | 1 ligoje |
| TUBBtubulin beta class I | Dažnai (30–79%) | 1 ligoje |
| UBE4Bubiquitination factor E4B | Dažnai (30–79%) | 1 ligoje |
| XPO1exportin 1 | Dažnai (30–79%) | 1 ligoje |
| ZBTB20zinc finger and BTB domain containing 20 | Dažnai (30–79%) | 1 ligoje |
| ADARB1adenosine deaminase RNA specific B1 | Kartais (5–29%) | 1 ligoje |
| AHDC1AT-hook DNA binding motif containing 1 | Kartais (5–29%) | 1 ligoje |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Kartais (5–29%) | 3 ligose |
| AMER1APC membrane recruitment protein 1 | Kartais (5–29%) | 1 ligoje |
| ANKRD17ankyrin repeat domain 17 | Kartais (5–29%) | 1 ligoje |
| ARID1BAT-rich interaction domain 1B | Kartais (5–29%) | 1 ligoje |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Kartais (5–29%) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Kartais (5–29%) | 1 ligoje |
| BAP1BRCA1 associated deubiquitinase 1 | Kartais (5–29%) | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Kartais (5–29%) | 1 ligoje |
| CA2carbonic anhydrase 2 | Kartais (5–29%) | 1 ligoje |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Kartais (5–29%) | 1 ligoje |
| CDK10cyclin dependent kinase 10 | Kartais (5–29%) | 1 ligoje |
| CLCN3Cl-/H+ antiporter 3 | Kartais (5–29%) | 1 ligoje |
| CNOT3CCR4-NOT transcription complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| CRELD1CRELD disulfide isomerase 1 | Kartais (5–29%) | 1 ligoje |
| CTCFCCCTC-binding factor | Kartais (5–29%) | 1 ligoje |
| CTNNB1catenin beta 1 | Kartais (5–29%) | 1 ligoje |
| DEAF1DEAF1 transcription factor | Kartais (5–29%) | 1 ligoje |
| DOT1LDOT1 like histone lysine methyltransferase | Kartais (5–29%) | 1 ligoje |
| DPH1diphthamide biosynthesis 1 | Kartais (5–29%) | 1 ligoje |
| DPH2diphthamide biosynthesis 2 | Kartais (5–29%) | 1 ligoje |
| DPYSL5dihydropyrimidinase like 5 | Kartais (5–29%) | 1 ligoje |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| GJA5gap junction protein alpha 5 | Kartais (5–29%) | 1 ligoje |
| GJA8gap junction protein alpha 8 | Kartais (5–29%) | 1 ligoje |
| H3-3BH3.3 histone B | Kartais (5–29%) | 1 ligoje |
| H4C5H4 clustered histone 5 | Kartais (5–29%) | 1 ligoje |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Kartais (5–29%) | 1 ligoje |
| IPO8importin 8 | Kartais (5–29%) | 1 ligoje |
| KLHL20kelch like family member 20 | Kartais (5–29%) | 1 ligoje |
| LMX1BLIM homeobox transcription factor 1 beta | Kartais (5–29%) | 1 ligoje |
| LRPPRCleucine rich pentatricopeptide repeat containing | Kartais (5–29%) | 1 ligoje |
| MAN2B1mannosidase alpha class 2B member 1 | Kartais (5–29%) | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Kartais (5–29%) | 1 ligoje |
| MED12mediator complex subunit 12 | Kartais (5–29%) | 1 ligoje |
| MED13Lmediator complex subunit 13L | Kartais (5–29%) | 2 ligose |
| MED16mediator complex subunit 16 | Kartais (5–29%) | 1 ligoje |
| MEGF8multiple EGF like domains 8 | Kartais (5–29%) | 1 ligoje |
| MESDmesoderm development LRP chaperone | Kartais (5–29%) | 1 ligoje |
| MSX2msh homeobox 2 | Kartais (5–29%) | 1 ligoje |
| MTX2metaxin 2 | Kartais (5–29%) | 1 ligoje |
| NALCNsodium leak channel, non-selective | Kartais (5–29%) | 2 ligose |
| NEK1NIMA related kinase 1 | Kartais (5–29%) | 1 ligoje |
| NOVA2NOVA alternative splicing regulator 2 | Kartais (5–29%) | 1 ligoje |
| PGAP2post-GPI attachment to proteins 2 | Kartais (5–29%) | 1 ligoje |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Kartais (5–29%) | 1 ligoje |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Kartais (5–29%) | 1 ligoje |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Kartais (5–29%) | 1 ligoje |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Kartais (5–29%) | 1 ligoje |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Kartais (5–29%) | 1 ligoje |
| PNPLA6patatin like domain 6, lysophospholipase | Kartais (5–29%) | 2 ligose |
| POLR1BRNA polymerase I subunit B | Kartais (5–29%) | 1 ligoje |
| POLR1CRNA polymerase I and III subunit C | Kartais (5–29%) | 1 ligoje |
| POLR1DRNA polymerase I and III subunit D | Kartais (5–29%) | 1 ligoje |
| PORcytochrome p450 oxidoreductase | Kartais (5–29%) | 3 ligose |
| PTCH1patched 1 | Kartais (5–29%) | 1 ligoje |
| PTCH2patched 2 | Kartais (5–29%) | 1 ligoje |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Kartais (5–29%) | 1 ligoje |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Kartais (5–29%) | 1 ligoje |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Kartais (5–29%) | 1 ligoje |
| RFX7regulatory factor X7 | Kartais (5–29%) | 1 ligoje |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Kartais (5–29%) | 2 ligose |
| RNF216ring finger protein 216 | Kartais (5–29%) | 1 ligoje |
| RUNX2RUNX family transcription factor 2 | Kartais (5–29%) | 1 ligoje |
| SATB1SATB homeobox 1 | Kartais (5–29%) | 1 ligoje |
| SATB2SATB homeobox 2 | Kartais (5–29%) | 1 ligoje |
| SETBP1SET binding protein 1 | Kartais (5–29%) | 1 ligoje |
| SLC6A1solute carrier family 6 member 1 | Kartais (5–29%) | 1 ligoje |
| SLC6A11solute carrier family 6 member 11 | Kartais (5–29%) | 1 ligoje |
| SMG9SMG9 nonsense mediated mRNA decay factor | Kartais (5–29%) | 1 ligoje |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Kartais (5–29%) | 1 ligoje |
| STXBP1syntaxin binding protein 1 | Kartais (5–29%) | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Kartais (5–29%) | 1 ligoje |
| TBC1D20TBC1 domain family member 20 | Kartais (5–29%) | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Kartais (5–29%) | 1 ligoje |
| TBX2T-box transcription factor 2 | Kartais (5–29%) | 1 ligoje |
| TCOF1treacle ribosome biogenesis factor 1 | Kartais (5–29%) | 1 ligoje |
| TDP2tyrosyl-DNA phosphodiesterase 2 | Kartais (5–29%) | 1 ligoje |
| TRIP12thyroid hormone receptor interactor 12 | Kartais (5–29%) | 1 ligoje |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Kartais (5–29%) | 1 ligoje |
| TTC5tetratricopeptide repeat domain 5 | Kartais (5–29%) | 1 ligoje |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Kartais (5–29%) | 1 ligoje |
| USP7ubiquitin specific peptidase 7 | Kartais (5–29%) | 1 ligoje |
| USP9Xubiquitin specific peptidase 9 X-linked | Kartais (5–29%) | 2 ligose |
| WDR26WD repeat domain 26 | Kartais (5–29%) | 1 ligoje |
| ZDHHC9zDHHC palmitoyltransferase 9 | Kartais (5–29%) | 1 ligoje |
| ZMYND11zinc finger MYND-type containing 11 | Kartais (5–29%) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Retai (1–4 %) | 1 ligoje |
| EBF3EBF transcription factor 3 | Retai (1–4 %) | 1 ligoje |
| FOXF1forkhead box F1 | Retai (1–4 %) | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Retai (1–4 %) | 1 ligoje |
| KMT2Clysine methyltransferase 2C | Retai (1–4 %) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Retai (1–4 %) | 1 ligoje |
| ACOX1acyl-CoA oxidase 1 | Neužfiksuota | 1 ligoje |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Neužfiksuota | 1 ligoje |
| AGAaspartylglucosaminidase | Neužfiksuota | 1 ligoje |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Neužfiksuota | 1 ligoje |
| ATP7AATPase copper transporting alpha | Neužfiksuota | 1 ligoje |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Neužfiksuota | 1 ligoje |
| BMP4bone morphogenetic protein 4 | Neužfiksuota | 1 ligoje |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Neužfiksuota | 1 ligoje |
| CHST14carbohydrate sulfotransferase 14 | Neužfiksuota | 1 ligoje |
| CHST3carbohydrate sulfotransferase 3 | Neužfiksuota | 1 ligoje |
| CYP26B1cytochrome P450 family 26 subfamily B member 1 | Neužfiksuota | 1 ligoje |
| FAM20CFAM20C golgi associated secretory pathway kinase | Neužfiksuota | 1 ligoje |
| FBN1fibrillin 1 | Neužfiksuota | 1 ligoje |
| FBN2fibrillin 2 | Neužfiksuota | 1 ligoje |
| FKBP10FKBP prolyl isomerase 10 | Neužfiksuota | 1 ligoje |
| GJA1gap junction protein alpha 1 | Neužfiksuota | 1 ligoje |
| HCFC1host cell factor C1 | Neužfiksuota | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Neužfiksuota | 1 ligoje |
| INTUinturned planar cell polarity protein | Neužfiksuota | 1 ligoje |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Neužfiksuota | 1 ligoje |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Neužfiksuota | 1 ligoje |
| MN1MN1 proto-oncogene, transcriptional regulator | Neužfiksuota | 1 ligoje |
| NANSN-acetylneuraminate synthase | Neužfiksuota | 1 ligoje |
| NGLY1N-glycanase 1 | Neužfiksuota | 1 ligoje |
| PCGF2polycomb group ring finger 2 | Neužfiksuota | 1 ligoje |
| PCLOpiccolo presynaptic cytomatrix protein | Neužfiksuota | 1 ligoje |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Neužfiksuota | 1 ligoje |
| PTH1Rparathyroid hormone 1 receptor | Neužfiksuota | 1 ligoje |
| RAB18RAB18, member RAS oncogene family | Neužfiksuota | 1 ligoje |
| RAB23RAB23, member RAS oncogene family | Neužfiksuota | 1 ligoje |
| RAC3Rac family small GTPase 3 | Neužfiksuota | 1 ligoje |
| RBM8ARNA binding motif protein 8A | Neužfiksuota | 1 ligoje |
| SLC12A6solute carrier family 12 member 6 | Neužfiksuota | 1 ligoje |
| SRD5A3steroid 5 alpha-reductase 3 | Neužfiksuota | 1 ligoje |
| STAC3SH3 and cysteine rich domain 3 | Neužfiksuota | 1 ligoje |
| TAPT1transmembrane anterior posterior transformation 1 | Neužfiksuota | 1 ligoje |
| TCF20transcription factor 20 | Neužfiksuota | 1 ligoje |
| UBE3Aubiquitin protein ligase E3A | Neužfiksuota | 1 ligoje |
| UNC80unc-80 subunit of NALCN channel complex | Neužfiksuota | 1 ligoje |
| WACWW domain containing adaptor with coiled-coil | Neužfiksuota | 1 ligoje |
| WASHC5WASH complex subunit 5 | Neužfiksuota | 1 ligoje |
| ZC4H2zinc finger C4H2-type containing | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Siauresni požymiai
Platesni požymiai
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
Vienas testas. Atsakymai visam gyvenimui.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites