Egenskap
Broad head shape
Klinisk navn: 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.
Sammendrag
- Også kalt
- Broad skull shape, Short and broad skull, Wide head shape, Wide skull shape
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Få mitt Genome Test256 gener knyttet til Broad head shape
Endringer i disse genene forårsaker sjeldne tilstander der Broad head shape forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ALX1ALX homeobox 1 | Alltid | I 1 tilstand |
| ALX4ALX homeobox 4 | Alltid | I 3 tilstander |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Alltid | I 2 tilstander |
| CCDC47coiled-coil domain containing 47 | Alltid | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Alltid | I 1 tilstand |
| DHRS3dehydrogenase/reductase 3 | Alltid | I 1 tilstand |
| DRG1developmentally regulated GTP binding protein 1 | Alltid | I 1 tilstand |
| DSEdermatan sulfate epimerase | Alltid | I 1 tilstand |
| ERI1exoribonuclease 1 | Alltid | I 1 tilstand |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Alltid | I 1 tilstand |
| GET4guided entry of tail-anchored proteins factor 4 | Alltid | I 1 tilstand |
| GNB2G protein subunit beta 2 | Alltid | I 1 tilstand |
| GOLGA2golgin A2 | Alltid | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Alltid | I 2 tilstander |
| GTPBP2GTP binding protein 2 | Alltid | I 1 tilstand |
| IKZF2IKAROS family zinc finger 2 | Alltid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| KIDINS220kinase D interacting substrate 220 | Alltid | I 1 tilstand |
| LIG4DNA ligase 4 | Alltid | I 2 tilstander |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Alltid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alltid | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Alltid | I 3 tilstander |
| PRMT7protein arginine methyltransferase 7 | Alltid | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Alltid | I 1 tilstand |
| PTRH2peptidyl-tRNA hydrolase 2 | Alltid | I 2 tilstander |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Alltid | I 3 tilstander |
| SLC25A24solute carrier family 25 member 24 | Alltid | I 2 tilstander |
| SMSspermine synthase | Alltid | I 2 tilstander |
| TAF8TATA-box binding protein associated factor 8 | Alltid | I 1 tilstand |
| TECPR2tectonin beta-propeller repeat containing 2 | Alltid | I 2 tilstander |
| TGFB3transforming growth factor beta 3 | Alltid | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Alltid | I 2 tilstander |
| TTC8tetratricopeptide repeat domain 8 | Alltid | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Alltid | I 1 tilstand |
| ADSLadenylosuccinate lyase | Svært ofte (80–99 %) | I 2 tilstander |
| B3GLCTbeta 3-glucosyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Svært ofte (80–99 %) | I 1 tilstand |
| CDH11cadherin 11 | Svært ofte (80–99 %) | I 2 tilstander |
| CHD6chromodomain helicase DNA binding protein 6 | Svært ofte (80–99 %) | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Svært ofte (80–99 %) | I 1 tilstand |
Vis 216 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| EFNB1ephrin B1 | Svært ofte (80–99 %) | I 2 tilstander |
| EHMT1euchromatic histone lysine methyltransferase 1 | Svært ofte (80–99 %) | I 3 tilstander |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Svært ofte (80–99 %) | I 2 tilstander |
| EXT2exostosin glycosyltransferase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Svært ofte (80–99 %) | I 7 tilstander |
| FGFR3fibroblast growth factor receptor 3 | Svært ofte (80–99 %) | I 6 tilstander |
| FUCA1alpha-L-fucosidase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Svært ofte (80–99 %) | I 2 tilstander |
| IL11RAinterleukin 11 receptor subunit alpha | Svært ofte (80–99 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Svært ofte (80–99 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Svært ofte (80–99 %) | I 2 tilstander |
| NBASNBAS subunit of NRZ tethering complex | Svært ofte (80–99 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Svært ofte (80–99 %) | I 2 tilstander |
| PHF21APHD finger protein 21A | Svært ofte (80–99 %) | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Svært ofte (80–99 %) | I 2 tilstander |
| RAD21RAD21 cohesin complex component | Svært ofte (80–99 %) | I 2 tilstander |
| RAI1retinoic acid induced 1 | Svært ofte (80–99 %) | I 2 tilstander |
| RECQL4RecQ like helicase 4 | Svært ofte (80–99 %) | I 2 tilstander |
| RNU12RNA, U12 small nuclear | Svært ofte (80–99 %) | I 2 tilstander |
| SMC1Astructural maintenance of chromosomes 1A | Svært ofte (80–99 %) | I 2 tilstander |
| SMC3structural maintenance of chromosomes 3 | Svært ofte (80–99 %) | I 2 tilstander |
| TBCKTBC1 domain containing kinase | Svært ofte (80–99 %) | I 1 tilstand |
| TCF12transcription factor 12 | Svært ofte (80–99 %) | I 1 tilstand |
| TRAPPC9trafficking protein particle complex subunit 9 | Svært ofte (80–99 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Svært ofte (80–99 %) | I 4 tilstander |
| UBE3Bubiquitin protein ligase E3B | Svært ofte (80–99 %) | I 2 tilstander |
| ZIC1Zic family zinc finger 1 | Svært ofte (80–99 %) | I 3 tilstander |
| ZSWIM6zinc finger SWIM-type containing 6 | Svært ofte (80–99 %) | I 2 tilstander |
| ADAMTSL1ADAMTS like 1 | Ofte (30–79 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Ofte (30–79 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Ofte (30–79 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Ofte (30–79 %) | I 1 tilstand |
| BRPF1bromodomain and PHD finger containing 1 | Ofte (30–79 %) | I 1 tilstand |
| CASZ1castor zinc finger 1 | Ofte (30–79 %) | I 1 tilstand |
| CTU2cytosolic thiouridylase subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Ofte (30–79 %) | I 1 tilstand |
| FKTNfukutin | Ofte (30–79 %) | I 1 tilstand |
| FREM1FRAS1 related extracellular matrix 1 | Ofte (30–79 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Ofte (30–79 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Ofte (30–79 %) | I 1 tilstand |
| HSPA9heat shock protein family A (Hsp70) member 9 | Ofte (30–79 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Ofte (30–79 %) | I 1 tilstand |
| IRX5iroquois homeobox 5 | Ofte (30–79 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| KDM1Alysine demethylase 1A | Ofte (30–79 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Ofte (30–79 %) | I 1 tilstand |
| MAFMAF bZIP transcription factor | Ofte (30–79 %) | I 2 tilstander |
| MBD5methyl-CpG binding domain protein 5 | Ofte (30–79 %) | I 2 tilstander |
| MMP14matrix metallopeptidase 14 | Ofte (30–79 %) | I 1 tilstand |
| MMP2matrix metallopeptidase 2 | Ofte (30–79 %) | I 2 tilstander |
| MMP23Bmatrix metallopeptidase 23B | Ofte (30–79 %) | I 1 tilstand |
| OTUD6BOTU deubiquitinase 6B | Ofte (30–79 %) | I 2 tilstander |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Ofte (30–79 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Ofte (30–79 %) | I 2 tilstander |
| PDPNpodoplanin | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 2 tilstander |
| POLR2ARNA polymerase II subunit A | Ofte (30–79 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 1 tilstand |
| PQBP1polyglutamine binding protein 1 | Ofte (30–79 %) | I 2 tilstander |
| PRDM16PR/SET domain 16 | Ofte (30–79 %) | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ofte (30–79 %) | I 2 tilstander |
| PRKCZprotein kinase C zeta | Ofte (30–79 %) | I 1 tilstand |
| PRKD1protein kinase D1 | Ofte (30–79 %) | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| RELREL proto-oncogene, NF-kB subunit | Ofte (30–79 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Ofte (30–79 %) | I 1 tilstand |
| SETD5SET domain containing 5 | Ofte (30–79 %) | I 2 tilstander |
| SH3PXD2BSH3 and PX domains 2B | Ofte (30–79 %) | I 1 tilstand |
| SKISKI proto-oncogene | Ofte (30–79 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Ofte (30–79 %) | I 1 tilstand |
| SPOPspeckle type BTB/POZ protein | Ofte (30–79 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Ofte (30–79 %) | I 2 tilstander |
| TET3tet methylcytosine dioxygenase 3 | Ofte (30–79 %) | I 1 tilstand |
| TUBBtubulin beta class I | Ofte (30–79 %) | I 1 tilstand |
| UBE4Bubiquitination factor E4B | Ofte (30–79 %) | I 1 tilstand |
| XPO1exportin 1 | Ofte (30–79 %) | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | Ofte (30–79 %) | I 1 tilstand |
| ADARB1adenosine deaminase RNA specific B1 | Noen ganger (5–29 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Noen ganger (5–29 %) | I 3 tilstander |
| AMER1APC membrane recruitment protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ANKRD17ankyrin repeat domain 17 | Noen ganger (5–29 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Noen ganger (5–29 %) | I 1 tilstand |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Noen ganger (5–29 %) | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Noen ganger (5–29 %) | I 1 tilstand |
| CDK10cyclin dependent kinase 10 | Noen ganger (5–29 %) | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CNOT3CCR4-NOT transcription complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Noen ganger (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DEAF1DEAF1 transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| DPH1diphthamide biosynthesis 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DPH2diphthamide biosynthesis 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Noen ganger (5–29 %) | I 1 tilstand |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Noen ganger (5–29 %) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Noen ganger (5–29 %) | I 1 tilstand |
| H3-3BH3.3 histone B | Noen ganger (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Noen ganger (5–29 %) | I 1 tilstand |
| IPO8importin 8 | Noen ganger (5–29 %) | I 1 tilstand |
| KLHL20kelch like family member 20 | Noen ganger (5–29 %) | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Noen ganger (5–29 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Noen ganger (5–29 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Noen ganger (5–29 %) | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Noen ganger (5–29 %) | I 2 tilstander |
| MED16mediator complex subunit 16 | Noen ganger (5–29 %) | I 1 tilstand |
| MEGF8multiple EGF like domains 8 | Noen ganger (5–29 %) | I 1 tilstand |
| MESDmesoderm development LRP chaperone | Noen ganger (5–29 %) | I 1 tilstand |
| MSX2msh homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MTX2metaxin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Noen ganger (5–29 %) | I 2 tilstander |
| NEK1NIMA related kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NOVA2NOVA alternative splicing regulator 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Noen ganger (5–29 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Noen ganger (5–29 %) | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Noen ganger (5–29 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Noen ganger (5–29 %) | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Noen ganger (5–29 %) | I 2 tilstander |
| POLR1BRNA polymerase I subunit B | Noen ganger (5–29 %) | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Noen ganger (5–29 %) | I 1 tilstand |
| POLR1DRNA polymerase I and III subunit D | Noen ganger (5–29 %) | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Noen ganger (5–29 %) | I 3 tilstander |
| PTCH1patched 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PTCH2patched 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Noen ganger (5–29 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Noen ganger (5–29 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Noen ganger (5–29 %) | I 2 tilstander |
| RNF216ring finger protein 216 | Noen ganger (5–29 %) | I 1 tilstand |
| RUNX2RUNX family transcription factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC6A11solute carrier family 6 member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| SMG9SMG9 nonsense mediated mRNA decay factor | Noen ganger (5–29 %) | I 1 tilstand |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Noen ganger (5–29 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX2T-box transcription factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TCOF1treacle ribosome biogenesis factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TDP2tyrosyl-DNA phosphodiesterase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIP12thyroid hormone receptor interactor 12 | Noen ganger (5–29 %) | I 1 tilstand |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Noen ganger (5–29 %) | I 1 tilstand |
| TTC5tetratricopeptide repeat domain 5 | Noen ganger (5–29 %) | I 1 tilstand |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Noen ganger (5–29 %) | I 1 tilstand |
| USP7ubiquitin specific peptidase 7 | Noen ganger (5–29 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Noen ganger (5–29 %) | I 2 tilstander |
| WDR26WD repeat domain 26 | Noen ganger (5–29 %) | I 1 tilstand |
| ZDHHC9zDHHC palmitoyltransferase 9 | Noen ganger (5–29 %) | I 1 tilstand |
| ZMYND11zinc finger MYND-type containing 11 | Noen ganger (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Sjelden (1–4%) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Sjelden (1–4%) | I 1 tilstand |
| FOXF1forkhead box F1 | Sjelden (1–4%) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Sjelden (1–4%) | I 1 tilstand |
| KMT2Clysine methyltransferase 2C | Sjelden (1–4%) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Sjelden (1–4%) | I 1 tilstand |
| ACOX1acyl-CoA oxidase 1 | Ikke registrert | I 1 tilstand |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Ikke registrert | I 1 tilstand |
| AGAaspartylglucosaminidase | Ikke registrert | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ikke registrert | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Ikke registrert | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Ikke registrert | I 1 tilstand |
| BMP4bone morphogenetic protein 4 | Ikke registrert | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Ikke registrert | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Ikke registrert | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Ikke registrert | I 1 tilstand |
| CYP26B1cytochrome P450 family 26 subfamily B member 1 | Ikke registrert | I 1 tilstand |
| FAM20CFAM20C golgi associated secretory pathway kinase | Ikke registrert | I 1 tilstand |
| FBN1fibrillin 1 | Ikke registrert | I 1 tilstand |
| FBN2fibrillin 2 | Ikke registrert | I 1 tilstand |
| FKBP10FKBP prolyl isomerase 10 | Ikke registrert | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ikke registrert | I 1 tilstand |
| HCFC1host cell factor C1 | Ikke registrert | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ikke registrert | I 1 tilstand |
| INTUinturned planar cell polarity protein | Ikke registrert | I 1 tilstand |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Ikke registrert | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Ikke registrert | I 1 tilstand |
| MN1MN1 proto-oncogene, transcriptional regulator | Ikke registrert | I 1 tilstand |
| NANSN-acetylneuraminate synthase | Ikke registrert | I 1 tilstand |
| NGLY1N-glycanase 1 | Ikke registrert | I 1 tilstand |
| PCGF2polycomb group ring finger 2 | Ikke registrert | I 1 tilstand |
| PCLOpiccolo presynaptic cytomatrix protein | Ikke registrert | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Ikke registrert | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Ikke registrert | I 1 tilstand |
| RAB18RAB18, member RAS oncogene family | Ikke registrert | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Ikke registrert | I 1 tilstand |
| RAC3Rac family small GTPase 3 | Ikke registrert | I 1 tilstand |
| RBM8ARNA binding motif protein 8A | Ikke registrert | I 1 tilstand |
| SLC12A6solute carrier family 12 member 6 | Ikke registrert | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Ikke registrert | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Ikke registrert | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registrert | I 1 tilstand |
| TCF20transcription factor 20 | Ikke registrert | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Ikke registrert | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registrert | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Ikke registrert | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Ikke registrert | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
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Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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