Požymis
Long face
Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
Santrauka
- Taip pat vadinama
- Elongation of face, Increased height of face, Increased length of face, Vertical elongation of face, Vertical enlargement of face, Vertical overgrowth of face, Increased vertical dimension of face, Long facies, Vertical excess of face, Vertical Facial Excess, Vertical hyperplasia of face
- Kūno sistema
- Abnormality of head or neck
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Long face, and the rest of your genome, with one test.
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Įsigyti savo Genome Test272 genų susiję su Long face
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Long face. 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 |
|---|---|---|
| ANKHANKH inorganic pyrophosphate transport regulator | Visada | 1 ligoje |
| APC2APC regulator of Wnt signaling pathway 2 | Visada | 2 ligose |
| CEP57centrosomal protein 57 | Visada | 1 ligoje |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Visada | 1 ligoje |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Visada | 1 ligoje |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Visada | 1 ligoje |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Visada | 1 ligoje |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Visada | 2 ligose |
| FEM1Bfem-1 homolog B | Visada | 1 ligoje |
| GON4Lgon-4 like | Visada | 1 ligoje |
| GTF3C3general transcription factor IIIC subunit 3 | Visada | 1 ligoje |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Visada | 2 ligose |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Visada | 1 ligoje |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| MAP2K2mitogen-activated protein kinase kinase 2 | Visada | 2 ligose |
| MED12mediator complex subunit 12 | Visada | 2 ligose |
| NONOnon-POU domain containing octamer binding | Visada | 2 ligose |
| PAK1p21 (RAC1) activated kinase 1 | Visada | 1 ligoje |
| PHF8PHD finger protein 8 | Visada | 2 ligose |
| PPFIA3PPFI scaffold protein A3 | Visada | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Visada | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Visada | 2 ligose |
| SLC2A10solute carrier family 2 member 10 | Visada | 2 ligose |
| SMAD2SMAD family member 2 | Visada | 2 ligose |
| SNAP29synaptosome associated protein 29 | Visada | 2 ligose |
| STRADASTE20 related adaptor alpha | Visada | 1 ligoje |
| TPRKBTP53RK binding protein | Visada | 1 ligoje |
| TRAIPTRAF interacting protein | Visada | 1 ligoje |
| TSPAN7tetraspanin 7 | Visada | 1 ligoje |
| UBAP2Lubiquitin associated protein 2 like | Visada | 1 ligoje |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Visada | 1 ligoje |
| AIPAHR interacting HSP90 co-chaperone | Labai dažnai (80–99%) | 1 ligoje |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Labai dažnai (80–99%) | 3 ligose |
| ASPHaspartate beta-hydroxylase | Labai dažnai (80–99%) | 1 ligoje |
| B3GLCTbeta 3-glucosyltransferase | Labai dažnai (80–99%) | 2 ligose |
| BCAS3BCAS3 microtubule associated cell migration factor | Labai dažnai (80–99%) | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Labai dažnai (80–99%) | 1 ligoje |
| FRA10AC1FRA10A associated CGG repeat 1 | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 232 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| GPR101G protein-coupled receptor 101 | Labai dažnai (80–99%) | 1 ligoje |
| KAT6Alysine acetyltransferase 6A | Labai dažnai (80–99%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| MGPmatrix Gla protein | Labai dažnai (80–99%) | 2 ligose |
| NBASNBAS subunit of NRZ tethering complex | Labai dažnai (80–99%) | 1 ligoje |
| NFIXnuclear factor I X | Labai dažnai (80–99%) | 2 ligose |
| NHSNHS actin remodeling regulator | Labai dažnai (80–99%) | 2 ligose |
| NKAPNFKB activating protein | Labai dažnai (80–99%) | 1 ligoje |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Labai dažnai (80–99%) | 2 ligose |
| PQBP1polyglutamine binding protein 1 | Labai dažnai (80–99%) | 4 ligose |
| SLC9A6solute carrier family 9 member A6 | Labai dažnai (80–99%) | 2 ligose |
| STEEP1STING1 ER exit protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| ACTA1actin alpha 1, skeletal muscle | Dažnai (30–79%) | 3 ligose |
| AHI1Abelson helper integration site 1 | Dažnai (30–79%) | 2 ligose |
| APCAPC regulator of Wnt signaling pathway | Dažnai (30–79%) | 1 ligoje |
| ARL13BARF like GTPase 13B | Dažnai (30–79%) | 1 ligoje |
| ARL3ARF like GTPase 3 | Dažnai (30–79%) | 1 ligoje |
| ARMC9armadillo repeat containing 9 | Dažnai (30–79%) | 1 ligoje |
| ARVCFARVCF delta catenin family member | Dažnai (30–79%) | 1 ligoje |
| ASXL2ASXL transcriptional regulator 2 | Dažnai (30–79%) | 1 ligoje |
| B9D1B9 domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| B9D2B9 domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| BORCS8BLOC-1 related complex subunit 8 | Dažnai (30–79%) | 1 ligoje |
| BRWD3bromodomain and WD repeat domain containing 3 | Dažnai (30–79%) | 1 ligoje |
| CAMTA1calmodulin binding transcription activator 1 | Dažnai (30–79%) | 2 ligose |
| CBY1chibby 1, beta catenin antagonist | Dažnai (30–79%) | 1 ligoje |
| CC2D2Acoiled-coil and C2 domain containing 2A | Dažnai (30–79%) | 2 ligose |
| CEP104centrosomal protein 104 | Dažnai (30–79%) | 1 ligoje |
| CEP120centrosomal protein 120 | Dažnai (30–79%) | 2 ligose |
| CEP290centrosomal protein 290 | Dažnai (30–79%) | 1 ligoje |
| CEP41centrosomal protein 41 | Dažnai (30–79%) | 2 ligose |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Dažnai (30–79%) | 1 ligoje |
| CHRNGcholinergic receptor nicotinic gamma subunit | Dažnai (30–79%) | 2 ligose |
| COMTcatechol-O-methyltransferase | Dažnai (30–79%) | 1 ligoje |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Dažnai (30–79%) | 2 ligose |
| CSPP1centrosome and spindle pole associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| DDR2discoidin domain receptor tyrosine kinase 2 | Dažnai (30–79%) | 1 ligoje |
| DOCK3dedicator of cytokinesis 3 | Dažnai (30–79%) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Dažnai (30–79%) | 1 ligoje |
| EBF3EBF transcription factor 3 | Dažnai (30–79%) | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Dažnai (30–79%) | 2 ligose |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Dažnai (30–79%) | 2 ligose |
| FAM149B1family with sequence similarity 149 member B1 | Dažnai (30–79%) | 1 ligoje |
| FGF3fibroblast growth factor 3 | Dažnai (30–79%) | 3 ligose |
| FILIP1filamin A interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| FMR1fragile X messenger ribonucleoprotein 1 | Dažnai (30–79%) | 2 ligose |
| GP1BBglycoprotein Ib platelet subunit beta | Dažnai (30–79%) | 1 ligoje |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Dažnai (30–79%) | 1 ligoje |
| HIRAhistone cell cycle regulator | Dažnai (30–79%) | 1 ligoje |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Dažnai (30–79%) | 3 ligose |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Dažnai (30–79%) | 1 ligoje |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Dažnai (30–79%) | 1 ligoje |
| IFT74intraflagellar transport 74 | Dažnai (30–79%) | 1 ligoje |
| INPP5Einositol polyphosphate-5-phosphatase E | Dažnai (30–79%) | 3 ligose |
| JMJD1Cjumonji domain containing 1C | Dažnai (30–79%) | 1 ligoje |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| KATNIPkatanin interacting protein | Dažnai (30–79%) | 1 ligoje |
| KCNK9potassium two pore domain channel subfamily K member 9 | Dažnai (30–79%) | 1 ligoje |
| KIAA0586KIAA0586 | Dažnai (30–79%) | 1 ligoje |
| KIAA0753KIAA0753 | Dažnai (30–79%) | 2 ligose |
| KIF7kinesin family member 7 | Dažnai (30–79%) | 1 ligoje |
| MID2midline 2 | Dažnai (30–79%) | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Dažnai (30–79%) | 2 ligose |
| MRASmuscle RAS oncogene homolog | Dažnai (30–79%) | 1 ligoje |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Dažnai (30–79%) | 2 ligose |
| MYH3myosin heavy chain 3 | Dažnai (30–79%) | 1 ligoje |
| MYPNmyopalladin | Dažnai (30–79%) | 2 ligose |
| NPHP1nephrocystin 1 | Dažnai (30–79%) | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Dažnai (30–79%) | 2 ligose |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Dažnai (30–79%) | 2 ligose |
| OTUD6BOTU deubiquitinase 6B | Dažnai (30–79%) | 2 ligose |
| PCGF2polycomb group ring finger 2 | Dažnai (30–79%) | 1 ligoje |
| PDE6Dphosphodiesterase 6D | Dažnai (30–79%) | 2 ligose |
| PIBF1progesterone immunomodulatory binding factor 1 | Dažnai (30–79%) | 1 ligoje |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Dažnai (30–79%) | 1 ligoje |
| PMM2phosphomannomutase 2 | Dažnai (30–79%) | 1 ligoje |
| POU4F1POU class 4 homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Dažnai (30–79%) | 1 ligoje |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Dažnai (30–79%) | 1 ligoje |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Dažnai (30–79%) | 1 ligoje |
| RIC1RIC1 partner of RAB6A GEF complex | Dažnai (30–79%) | 1 ligoje |
| RPGRIP1LRPGRIP1 like | Dažnai (30–79%) | 2 ligose |
| RREB1ras responsive element binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| RUSC2RUN and SH3 domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Dažnai (30–79%) | 2 ligose |
| SEC24CSEC24 homolog C, COPII component | Dažnai (30–79%) | 1 ligoje |
| SLC12A6solute carrier family 12 member 6 | Dažnai (30–79%) | 1 ligoje |
| SLC16A2solute carrier family 16 member 2 | Dažnai (30–79%) | 1 ligoje |
| SLC9A7solute carrier family 9 member A7 | Dažnai (30–79%) | 1 ligoje |
| SMAD3SMAD family member 3 | Dažnai (30–79%) | 2 ligose |
| SMSspermine synthase | Dažnai (30–79%) | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Dažnai (30–79%) | 1 ligoje |
| TAF1TATA-box binding protein associated factor 1 | Dažnai (30–79%) | 2 ligose |
| TBX1T-box transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| TCTN1tectonic family member 1 | Dažnai (30–79%) | 1 ligoje |
| TCTN2tectonic family member 2 | Dažnai (30–79%) | 1 ligoje |
| TCTN3tectonic family member 3 | Dažnai (30–79%) | 2 ligose |
| TET3tet methylcytosine dioxygenase 3 | Dažnai (30–79%) | 1 ligoje |
| TMEM138transmembrane protein 138 | Dažnai (30–79%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Dažnai (30–79%) | 2 ligose |
| TMEM218transmembrane protein 218 | Dažnai (30–79%) | 1 ligoje |
| TMEM231transmembrane protein 231 | Dažnai (30–79%) | 2 ligose |
| TMEM237transmembrane protein 237 | Dažnai (30–79%) | 3 ligose |
| TMEM67transmembrane protein 67 | Dažnai (30–79%) | 2 ligose |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Dažnai (30–79%) | 1 ligoje |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Dažnai (30–79%) | 1 ligoje |
| TPM2tropomyosin 2 | Dažnai (30–79%) | 3 ligose |
| TPM3tropomyosin 3 | Dažnai (30–79%) | 5 ligose |
| TSHZ3teashirt zinc finger homeobox 3 | Dažnai (30–79%) | 1 ligoje |
| UBE3Bubiquitin protein ligase E3B | Dažnai (30–79%) | 2 ligose |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Dažnai (30–79%) | 1 ligoje |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Dažnai (30–79%) | 1 ligoje |
| WNT7AWnt family member 7A | Dažnai (30–79%) | 1 ligoje |
| ZNF423zinc finger protein 423 | Dažnai (30–79%) | 1 ligoje |
| ZNF711ZFX family zinc finger ZNF711 | Dažnai (30–79%) | 1 ligoje |
| ADAT3adenosine deaminase tRNA specific 3 | Kartais (5–29%) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Kartais (5–29%) | 1 ligoje |
| AKT1AKT serine/threonine kinase 1 | Kartais (5–29%) | 2 ligose |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Kartais (5–29%) | 1 ligoje |
| ANKRD11ankyrin repeat domain 11 | Kartais (5–29%) | 1 ligoje |
| ATAD3AATPase family AAA domain containing 3A | Kartais (5–29%) | 2 ligose |
| ATG7autophagy related 7 | Kartais (5–29%) | 1 ligoje |
| BCORL1BCL6 corepressor like 1 | Kartais (5–29%) | 1 ligoje |
| BCRBCR activator of RhoGEF and GTPase | Kartais (5–29%) | 1 ligoje |
| BIN1bridging integrator 1 | Kartais (5–29%) | 2 ligose |
| CAPRIN1cell cycle associated protein 1 | Kartais (5–29%) | 1 ligoje |
| CDC42BPBCDC42 binding protein kinase beta | Kartais (5–29%) | 1 ligoje |
| CLCN3Cl-/H+ antiporter 3 | Kartais (5–29%) | 1 ligoje |
| COG3component of oligomeric golgi complex 3 | Kartais (5–29%) | 1 ligoje |
| CPSF3cleavage and polyadenylation specific factor 3 | Kartais (5–29%) | 1 ligoje |
| CRKLCRK like proto-oncogene, adaptor protein | Kartais (5–29%) | 1 ligoje |
| CUX1cut like homeobox 1 | Kartais (5–29%) | 1 ligoje |
| DHX30DExH-box helicase 30 | Kartais (5–29%) | 1 ligoje |
| EXTL3exostosin like glycosyltransferase 3 | Kartais (5–29%) | 1 ligoje |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| FRYLFRY like transcription coactivator | Kartais (5–29%) | 1 ligoje |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Kartais (5–29%) | 1 ligoje |
| HIVEP2HIVEP zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| IFT56intraflagellar transport 56 | Kartais (5–29%) | 1 ligoje |
| ITGA7integrin subunit alpha 7 | Kartais (5–29%) | 1 ligoje |
| KBTBD13kelch repeat and BTB domain containing 13 | Kartais (5–29%) | 1 ligoje |
| KDM2Blysine demethylase 2B | Kartais (5–29%) | 1 ligoje |
| KLHL41kelch like family member 41 | Kartais (5–29%) | 1 ligoje |
| KMT2Blysine methyltransferase 2B | Kartais (5–29%) | 1 ligoje |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Kartais (5–29%) | 1 ligoje |
| MAN1B1mannosidase alpha class 1B member 1 | Kartais (5–29%) | 2 ligose |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Kartais (5–29%) | 1 ligoje |
| MAPK1mitogen-activated protein kinase 1 | Kartais (5–29%) | 1 ligoje |
| MAPRE2microtubule associated protein RP/EB family member 2 | Kartais (5–29%) | 1 ligoje |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Kartais (5–29%) | 1 ligoje |
| MEIS2Meis homeobox 2 | Kartais (5–29%) | 1 ligoje |
| MSL2MSL complex subunit 2 | Kartais (5–29%) | 1 ligoje |
| MTM1myotubularin 1 | Kartais (5–29%) | 2 ligose |
| MYL2myosin light chain 2 | Kartais (5–29%) | 1 ligoje |
| NEBnebulin | Kartais (5–29%) | 1 ligoje |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Kartais (5–29%) | 1 ligoje |
| NF1neurofibromin 1 | Kartais (5–29%) | 1 ligoje |
| NKX6-2NK6 homeobox 2 | Kartais (5–29%) | 1 ligoje |
| NRCAMneuronal cell adhesion molecule | Kartais (5–29%) | 1 ligoje |
| PCDHGC4protocadherin gamma subfamily C, 4 | Kartais (5–29%) | 1 ligoje |
| POLA1DNA polymerase alpha 1, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Kartais (5–29%) | 1 ligoje |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Kartais (5–29%) | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Kartais (5–29%) | 1 ligoje |
| PURApurine rich element binding protein A | Kartais (5–29%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| RPL10ribosomal protein L10 | Kartais (5–29%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Kartais (5–29%) | 1 ligoje |
| SATB2SATB homeobox 2 | Kartais (5–29%) | 3 ligose |
| SELENONselenoprotein N | Kartais (5–29%) | 1 ligoje |
| SETBP1SET binding protein 1 | Kartais (5–29%) | 1 ligoje |
| SGCGsarcoglycan gamma | Kartais (5–29%) | 1 ligoje |
| SLC4A10solute carrier family 4 member 10 | Kartais (5–29%) | 1 ligoje |
| SLF2SMC5/6 complex localization factor 2 | Kartais (5–29%) | 1 ligoje |
| SMC5structural maintenance of chromosomes 5 | Kartais (5–29%) | 1 ligoje |
| SOX6SRY-box transcription factor 6 | Kartais (5–29%) | 1 ligoje |
| SPEGstriated muscle enriched protein kinase | Kartais (5–29%) | 1 ligoje |
| SPENspen family transcriptional repressor | Kartais (5–29%) | 1 ligoje |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Kartais (5–29%) | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Kartais (5–29%) | 1 ligoje |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Kartais (5–29%) | 1 ligoje |
| TBCBtubulin folding cofactor B | Kartais (5–29%) | 1 ligoje |
| TGFB3transforming growth factor beta 3 | Kartais (5–29%) | 1 ligoje |
| TMEM147transmembrane protein 147 | Kartais (5–29%) | 1 ligoje |
| TNNT1troponin T1, slow skeletal type | Kartais (5–29%) | 1 ligoje |
| TONSLtonsoku like, DNA repair protein | Kartais (5–29%) | 1 ligoje |
| TTC5tetratricopeptide repeat domain 5 | Kartais (5–29%) | 1 ligoje |
| TTNtitin | Kartais (5–29%) | 1 ligoje |
| VMA22vacuolar ATPase assembly factor VMA22 | Kartais (5–29%) | 1 ligoje |
| WSB2WD repeat and SOCS box containing 2 | Kartais (5–29%) | 1 ligoje |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| ACBD6acyl-CoA binding domain containing 6 | Retai (1–4 %) | 1 ligoje |
| CLCN4Cl-/H+ antiporter 4 | Retai (1–4 %) | 2 ligose |
| CTCFCCCTC-binding factor | Retai (1–4 %) | 1 ligoje |
| MMACHCmetabolism of cobalamin associated C | Retai (1–4 %) | 2 ligose |
| ASXL1ASXL transcriptional regulator 1 | Neužfiksuota | 1 ligoje |
| ATP7AATPase copper transporting alpha | Neužfiksuota | 1 ligoje |
| BCORBCL6 corepressor | Neužfiksuota | 1 ligoje |
| C12orf57chromosome 12 open reading frame 57 | Neužfiksuota | 1 ligoje |
| CCDC174coiled-coil domain containing 174 | Neužfiksuota | 1 ligoje |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Neužfiksuota | 1 ligoje |
| COL3A1collagen type III alpha 1 chain | Neužfiksuota | 1 ligoje |
| DDX3XDEAD-box helicase 3 X-linked | Neužfiksuota | 1 ligoje |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Neužfiksuota | 1 ligoje |
| FBN1fibrillin 1 | Neužfiksuota | 1 ligoje |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Neužfiksuota | 1 ligoje |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Neužfiksuota | 1 ligoje |
| MOCS1molybdenum cofactor synthesis 1 | Neužfiksuota | 1 ligoje |
| MOCS2molybdenum cofactor synthesis 2 | Neužfiksuota | 1 ligoje |
| MUSKmuscle associated receptor tyrosine kinase | Neužfiksuota | 1 ligoje |
| NFIBnuclear factor I B | Neužfiksuota | 1 ligoje |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Neužfiksuota | 1 ligoje |
| OPHN1oligophrenin 1 | Neužfiksuota | 1 ligoje |
| PBX1PBX homeobox 1 | Neužfiksuota | 1 ligoje |
| PIGKphosphatidylinositol glycan anchor biosynthesis class K | Neužfiksuota | 1 ligoje |
| POC1APOC1 centriolar protein A | Neužfiksuota | 1 ligoje |
| PRDX1peroxiredoxin 1 | Neužfiksuota | 1 ligoje |
| RAB39BRAB39B, member RAS oncogene family | Neužfiksuota | 1 ligoje |
| RAPSNreceptor associated protein of the synapse | Neužfiksuota | 1 ligoje |
| RECQL4RecQ like helicase 4 | Neužfiksuota | 1 ligoje |
| SETD2SET domain containing 2, histone lysine methyltransferase | Neužfiksuota | 1 ligoje |
| SIX1SIX homeobox 1 | Neužfiksuota | 1 ligoje |
| SLC6A8solute carrier family 6 member 8 | Neužfiksuota | 1 ligoje |
| SRCAPSnf2 related CREBBP activator protein | Neužfiksuota | 1 ligoje |
| TCF20transcription factor 20 | Neužfiksuota | 1 ligoje |
| TLK2tousled like kinase 2 | Neužfiksuota | 1 ligoje |
| XRCC4X-ray repair cross complementing 4 | 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.
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