Kenmerk
Long, narrow head
Klinische naam: Dolichocephaly
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Samenvatting
- Ook bekend als
- Narrow head shape, Narrow skull shape, Tall and narrow skull
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Long, narrow head 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 |
|---|---|---|
| AHDC1AT-hook DNA binding motif containing 1 | Altijd | In 1 aandoening |
| APC2APC regulator of Wnt signaling pathway 2 | Altijd | In 2 aandoeningen |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Altijd | In 3 aandoeningen |
| CEP57centrosomal protein 57 | Altijd | In 1 aandoening |
| CUL7cullin 7 | Altijd | In 2 aandoeningen |
| ERI1exoribonuclease 1 | Altijd | In 1 aandoening |
| GCSHglycine cleavage system protein H | Altijd | In 1 aandoening |
| GNB2G protein subunit beta 2 | Altijd | In 1 aandoening |
| IFT52intraflagellar transport 52 | Altijd | In 2 aandoeningen |
| IFT81intraflagellar transport 81 | Altijd | In 1 aandoening |
| INTS1integrator complex subunit 1 | Altijd | In 1 aandoening |
| NSD1nuclear receptor binding SET domain protein 1 | Altijd | In 2 aandoeningen |
| PEX14peroxisomal biogenesis factor 14 | Altijd | In 2 aandoeningen |
| PSMC1proteasome 26S subunit, ATPase 1 | Altijd | In 1 aandoening |
| PTBP1polypyrimidine tract binding protein 1 | Altijd | In 1 aandoening |
| PTH1Rparathyroid hormone 1 receptor | Altijd | In 1 aandoening |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altijd | In 1 aandoening |
| TBC1D7TBC1 domain family member 7 | Altijd | In 2 aandoeningen |
| TBX5T-box transcription factor 5 | Altijd | In 1 aandoening |
| WDR35WD repeat domain 35 | Altijd | In 3 aandoeningen |
| ALX4ALX homeobox 4 | Heel vaak (80–99%) | In 1 aandoening |
| CILK1ciliogenesis associated kinase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CPLX1complexin 1 | Heel vaak (80–99%) | In 1 aandoening |
| CTBP1C-terminal binding protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| FBN1fibrillin 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| FGFR2fibroblast growth factor receptor 2 | Heel vaak (80–99%) | In 3 aandoeningen |
| IFT122intraflagellar transport 122 | Heel vaak (80–99%) | In 2 aandoeningen |
| IFT43intraflagellar transport 43 | Heel vaak (80–99%) | In 3 aandoeningen |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| MN1MN1 proto-oncogene, transcriptional regulator | Heel vaak (80–99%) | In 1 aandoening |
| MVKmevalonate kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| NELFAnegative elongation factor complex member A | Heel vaak (80–99%) | In 1 aandoening |
| NOTCH3notch receptor 3 | Heel vaak (80–99%) | In 3 aandoeningen |
| NSD2nuclear receptor binding SET domain protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| OBSL1obscurin like cytoskeletal adaptor 1 | 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 |
Toon nog 169 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| 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 3 aandoeningen |
| PEX6peroxisomal biogenesis factor 6 | Heel vaak (80–99%) | In 1 aandoening |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Heel vaak (80–99%) | In 1 aandoening |
| PREPLprolyl endopeptidase like | Heel vaak (80–99%) | In 1 aandoening |
| SKISKI proto-oncogene | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC3A1solute carrier family 3 member 1 | Heel vaak (80–99%) | In 1 aandoening |
| TMEM53transmembrane protein 53 | Heel vaak (80–99%) | In 1 aandoening |
| TWIST1twist family bHLH transcription factor 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| WDR19WD repeat domain 19 | Heel vaak (80–99%) | In 1 aandoening |
| AKT1AKT serine/threonine kinase 1 | Vaak (30–79%) | In 2 aandoeningen |
| BGNbiglycan | Vaak (30–79%) | In 1 aandoening |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Vaak (30–79%) | In 2 aandoeningen |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Vaak (30–79%) | In 1 aandoening |
| COL5A1collagen type V alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| DLX3distal-less homeobox 3 | Vaak (30–79%) | In 2 aandoeningen |
| DMXL2Dmx like 2 | Vaak (30–79%) | In 1 aandoening |
| EMILIN1elastin microfibril interfacer 1 | Vaak (30–79%) | In 1 aandoening |
| FAM177A1family with sequence similarity 177 member A1 | Vaak (30–79%) | In 1 aandoening |
| FIG4FIG4 phosphoinositide 5-phosphatase | Vaak (30–79%) | In 2 aandoeningen |
| FLT4fms related receptor tyrosine kinase 4 | Vaak (30–79%) | In 1 aandoening |
| GATA4GATA binding protein 4 | Vaak (30–79%) | In 1 aandoening |
| GATA5GATA binding protein 5 | Vaak (30–79%) | In 1 aandoening |
| GATA6GATA binding protein 6 | Vaak (30–79%) | In 1 aandoening |
| GDF1growth differentiation factor 1 | Vaak (30–79%) | In 1 aandoening |
| GJA5gap junction protein alpha 5 | Vaak (30–79%) | In 1 aandoening |
| IDUAalpha-L-iduronidase | Vaak (30–79%) | In 1 aandoening |
| IFT140intraflagellar transport 140 | Vaak (30–79%) | In 1 aandoening |
| INPPL1inositol polyphosphate phosphatase like 1 | Vaak (30–79%) | In 1 aandoening |
| IPO8importin 8 | Vaak (30–79%) | In 1 aandoening |
| JAG1jagged canonical Notch ligand 1 | Vaak (30–79%) | In 1 aandoening |
| KCNK9potassium two pore domain channel subfamily K member 9 | Vaak (30–79%) | In 1 aandoening |
| KDM5Blysine demethylase 5B | Vaak (30–79%) | In 1 aandoening |
| KDRkinase insert domain receptor | Vaak (30–79%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Vaak (30–79%) | In 2 aandoeningen |
| MAN1B1mannosidase alpha class 1B member 1 | Vaak (30–79%) | In 2 aandoeningen |
| NFIXnuclear factor I X | Vaak (30–79%) | In 1 aandoening |
| NKX2-5NK2 homeobox 5 | Vaak (30–79%) | In 1 aandoening |
| NKX2-6NK2 homeobox 6 | Vaak (30–79%) | In 1 aandoening |
| NOTCH2notch receptor 2 | Vaak (30–79%) | In 1 aandoening |
| NPR2natriuretic peptide receptor 2 | Vaak (30–79%) | In 1 aandoening |
| PI4KAphosphatidylinositol 4-kinase alpha | Vaak (30–79%) | In 2 aandoeningen |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Vaak (30–79%) | In 2 aandoeningen |
| RNU4ATACRNA, U4atac small nuclear | Vaak (30–79%) | In 1 aandoening |
| RPL10ribosomal protein L10 | Vaak (30–79%) | In 2 aandoeningen |
| RUSC2RUN and SH3 domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| SCO2synthesis of cytochrome C oxidase 2 | Vaak (30–79%) | In 1 aandoening |
| SGSM3small G protein signaling modulator 3 | Vaak (30–79%) | In 1 aandoening |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Vaak (30–79%) | In 1 aandoening |
| SLC35D1solute carrier family 35 member D1 | Vaak (30–79%) | In 1 aandoening |
| SMAD3SMAD family member 3 | Vaak (30–79%) | In 1 aandoening |
| TBX1T-box transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| TFAP2Atranscription factor AP-2 alpha | Vaak (30–79%) | In 2 aandoeningen |
| TGFB2transforming growth factor beta 2 | Vaak (30–79%) | In 1 aandoening |
| TMEM216transmembrane protein 216 | Vaak (30–79%) | In 1 aandoening |
| TRAIPTRAF interacting protein | Vaak (30–79%) | In 1 aandoening |
| VAC14VAC14 component of PIKFYVE complex | Vaak (30–79%) | In 1 aandoening |
| VDRvitamin D receptor | Vaak (30–79%) | In 1 aandoening |
| ZFPM2zinc finger protein, FOG family member 2 | Vaak (30–79%) | In 1 aandoening |
| ZNF142zinc finger protein 142 | Vaak (30–79%) | In 1 aandoening |
| ADH5alcohol dehydrogenase 5 (class III), chi polypeptide | Soms (5–29%) | In 1 aandoening |
| ASH1LASH1 like histone lysine methyltransferase | Soms (5–29%) | In 1 aandoening |
| ASXL3ASXL transcriptional regulator 3 | Soms (5–29%) | In 1 aandoening |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Soms (5–29%) | In 1 aandoening |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Soms (5–29%) | In 1 aandoening |
| BRCA1BRCA1 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRCA2BRCA2 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRIP1BRCA1 interacting DNA helicase 1 | Soms (5–29%) | In 1 aandoening |
| CDC42BPBCDC42 binding protein kinase beta | Soms (5–29%) | In 1 aandoening |
| CHRNGcholinergic receptor nicotinic gamma subunit | Soms (5–29%) | In 1 aandoening |
| CNOT3CCR4-NOT transcription complex subunit 3 | Soms (5–29%) | In 1 aandoening |
| DHCR2424-dehydrocholesterol reductase | Soms (5–29%) | In 1 aandoening |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Soms (5–29%) | In 1 aandoening |
| EBF3EBF transcription factor 3 | Soms (5–29%) | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Soms (5–29%) | In 1 aandoening |
| ERMARDER membrane associated RNA degradation | Soms (5–29%) | In 1 aandoening |
| FAAP100FA core complex associated protein 100 | Soms (5–29%) | In 1 aandoening |
| FANCAFA complementation group A | Soms (5–29%) | In 1 aandoening |
| FANCBFA complementation group B | Soms (5–29%) | In 1 aandoening |
| FANCCFA complementation group C | Soms (5–29%) | In 1 aandoening |
| FANCD2FA complementation group D2 | Soms (5–29%) | In 1 aandoening |
| FANCEFA complementation group E | Soms (5–29%) | In 1 aandoening |
| FANCFFA complementation group F | Soms (5–29%) | In 1 aandoening |
| FANCGFA complementation group G | Soms (5–29%) | In 1 aandoening |
| FANCIFA complementation group I | Soms (5–29%) | In 1 aandoening |
| FANCLFA complementation group L | Soms (5–29%) | In 1 aandoening |
| FANCMFA complementation group M | Soms (5–29%) | In 1 aandoening |
| FKTNfukutin | Soms (5–29%) | In 1 aandoening |
| H3-3BH3.3 histone B | Soms (5–29%) | In 1 aandoening |
| IL11RAinterleukin 11 receptor subunit alpha | Soms (5–29%) | In 1 aandoening |
| ITCHitchy E3 ubiquitin protein ligase | Soms (5–29%) | In 2 aandoeningen |
| KATNB1katanin regulatory subunit B1 | Soms (5–29%) | In 1 aandoening |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Soms (5–29%) | In 1 aandoening |
| KDM6Blysine demethylase 6B | Soms (5–29%) | In 1 aandoening |
| KMT2Alysine methyltransferase 2A | Soms (5–29%) | In 1 aandoening |
| KMT2Dlysine methyltransferase 2D | Soms (5–29%) | In 1 aandoening |
| LGI1leucine rich glioma inactivated 1 | Soms (5–29%) | In 1 aandoening |
| LTBP4latent transforming growth factor beta binding protein 4 | Soms (5–29%) | In 1 aandoening |
| MAD2L2mitotic arrest deficient 2 like 2 | Soms (5–29%) | In 1 aandoening |
| MADDMAP kinase activating death domain | Soms (5–29%) | In 1 aandoening |
| MAP2K1mitogen-activated protein kinase kinase 1 | Soms (5–29%) | In 1 aandoening |
| MAP2K2mitogen-activated protein kinase kinase 2 | Soms (5–29%) | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Soms (5–29%) | In 1 aandoening |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Soms (5–29%) | In 1 aandoening |
| MSL3MSL complex subunit 3 | Soms (5–29%) | In 1 aandoening |
| MTM1myotubularin 1 | Soms (5–29%) | In 2 aandoeningen |
| MYH3myosin heavy chain 3 | Soms (5–29%) | In 1 aandoening |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NDE1nudE neurodevelopment protein 1 | Soms (5–29%) | In 1 aandoening |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Soms (5–29%) | In 1 aandoening |
| OFD1OFD1 centriole and centriolar satellite protein | Soms (5–29%) | In 1 aandoening |
| PALB2partner and localizer of BRCA2 | Soms (5–29%) | In 1 aandoening |
| PCDHGC4protocadherin gamma subfamily C, 4 | Soms (5–29%) | In 1 aandoening |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Soms (5–29%) | In 1 aandoening |
| PTENphosphatase and tensin homolog | Soms (5–29%) | In 2 aandoeningen |
| RAD51RAD51 recombinase | Soms (5–29%) | In 1 aandoening |
| RAD51CRAD51 paralog C | Soms (5–29%) | In 1 aandoening |
| RELNreelin | Soms (5–29%) | In 1 aandoening |
| RFWD3ring finger and WD repeat domain 3 | Soms (5–29%) | In 1 aandoening |
| RFX7regulatory factor X7 | Soms (5–29%) | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Soms (5–29%) | In 1 aandoening |
| RYR1ryanodine receptor 1 | Soms (5–29%) | In 1 aandoening |
| SCNM1sodium channel modifier 1 | Soms (5–29%) | In 1 aandoening |
| SLX4SLX4 structure-specific endonuclease subunit | Soms (5–29%) | In 1 aandoening |
| SMAD2SMAD family member 2 | Soms (5–29%) | In 1 aandoening |
| SNAP29synaptosome associated protein 29 | Soms (5–29%) | In 1 aandoening |
| SPTBN1spectrin beta, non-erythrocytic 1 | Soms (5–29%) | In 1 aandoening |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Soms (5–29%) | In 1 aandoening |
| TGFB3transforming growth factor beta 3 | Soms (5–29%) | In 1 aandoening |
| TRIP12thyroid hormone receptor interactor 12 | Soms (5–29%) | In 1 aandoening |
| UBE2Tubiquitin conjugating enzyme E2 T | Soms (5–29%) | In 1 aandoening |
| XRCC2X-ray repair cross complementing 2 | Soms (5–29%) | In 1 aandoening |
| YY1YY1 transcription factor | Soms (5–29%) | In 2 aandoeningen |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Zelden (1–4%) | In 1 aandoening |
| FGF9fibroblast growth factor 9 | Zelden (1–4%) | In 1 aandoening |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Zelden (1–4%) | In 1 aandoening |
| ALPLalkaline phosphatase, biomineralization associated | Niet vastgelegd | In 1 aandoening |
| ARSBarylsulfatase B | Niet vastgelegd | In 1 aandoening |
| ATRXATRX chromatin remodeler | Niet vastgelegd | In 1 aandoening |
| BLMBLM RecQ like helicase | Niet vastgelegd | In 1 aandoening |
| CNTN1contactin 1 | Niet vastgelegd | In 1 aandoening |
| CNTNAP1contactin associated protein 1 | Niet vastgelegd | In 1 aandoening |
| DYMdymeclin | Niet vastgelegd | In 1 aandoening |
| EXOC6Bexocyst complex component 6B | Niet vastgelegd | In 1 aandoening |
| FBN2fibrillin 2 | Niet vastgelegd | In 1 aandoening |
| GLI3GLI family zinc finger 3 | Niet vastgelegd | In 1 aandoening |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Niet vastgelegd | In 1 aandoening |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Niet vastgelegd | In 1 aandoening |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Niet vastgelegd | In 1 aandoening |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Niet vastgelegd | In 1 aandoening |
| IDSiduronate 2-sulfatase | Niet vastgelegd | In 1 aandoening |
| KMT2Elysine methyltransferase 2E (inactive) | Niet vastgelegd | In 1 aandoening |
| KPTNkaptin, actin binding protein | Niet vastgelegd | In 1 aandoening |
| MAGEL2MAGE family member L2 | Niet vastgelegd | In 1 aandoening |
| MKRN3makorin ring finger protein 3 | Niet vastgelegd | In 1 aandoening |
| NPAP1nuclear pore associated protein 1 | Niet vastgelegd | In 1 aandoening |
| ORC4origin recognition complex subunit 4 | Niet vastgelegd | In 1 aandoening |
| PWAR1Prader Willi/Angelman region RNA 1 | Niet vastgelegd | In 1 aandoening |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Niet vastgelegd | In 1 aandoening |
| RAB39BRAB39B, member RAS oncogene family | Niet vastgelegd | In 1 aandoening |
| SLC6A9solute carrier family 6 member 9 | Niet vastgelegd | In 1 aandoening |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Niet vastgelegd | In 1 aandoening |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Niet vastgelegd | In 1 aandoening |
| TRIM37tripartite motif containing 37 | 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.
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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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