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Egenskap
Decreased facial muscle tone
Klinisk navn: Facial hypotonia
Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).
Sammendrag
- Også kalt
- Low facial muscle tone, Reduced facial muscle tone, Hypotonic facies
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Denne siden som data
Legg til .json etter adressen til siden, eller be om application/json, for å lese den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/facial-hypotonia.json"
page <- fromJSON(url)
page$trait$nameDecreased facial muscle toneHP:0000297
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Les genene knyttet til Decreased facial muscle tone, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test35 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Hereditary Episodic AtaxiasReads 3 of these genesCACNA1ASCN2ASLC1A3About this report →
- Familial Hemiplegic MigraineReads 2 of these genesATP1A2CACNA1AAbout this report →
- Intellectual DisabilityReads 16 of these genesDYNC1H1MECP2SATB2CHAMP1ASXL1KDM4BAbout this report →
- ATP1A2-Related Fetal Akinesia with PolymicrogyriaReads 1 of these genesATP1A2About this report →
Show 31 more reports
- Beck-Fahrner SyndromeReads 1 of these genesTET3About this report →
- NGLY1 DeficiencyReads 1 of these genesNGLY1About this report →
- Pompe DiseaseReads 1 of these genesGAAAbout this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- Simpson-Golabi-Behmel SyndromeReads 1 of these genesGPC3About this report →
- Turnpenny-Fry SyndromeReads 1 of these genesPCGF2About this report →
- Epilepsy (Full Panel)Reads 10 of these genesMECP2ATP1A2ATP1A3CACNA1AGRIA3RHOBTB2About this report →
- Myotonic DystrophyReads 1 of these genesDMPKAbout this report →
- Inherited Neurodegenerative DisordersReads 10 of these genesDYNC1H1SLC30A9UNC80AP4B1AP4E1AP4M1About this report →
- Hereditary Spastic ParaplegiaReads 4 of these genesAP4B1AP4E1AP4M1AP4S1About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 2 of these genesRNU4-2ZBTB11About this report →
- VitreoretinopathyReads 2 of these genesDYNC1H1XYLT2About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 1 of these genesMAN2B1About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 2 of these genesATP1A3CACNA1AAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 2 of these genesATP1A3SLC2A1About this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 1 of these genesCACNA1AAbout this report →
- Hereditary Optic NeuropathyReads 1 of these genesATP1A3About this report →
- Myofibrillar MyopathiesReads 1 of these genesMYOTAbout this report →
- Lysosomal Storage DiseaseReads 2 of these genesGAAMAN2B1About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 1 of these genesDYNC1H1About this report →
- Distal MyopathiesReads 1 of these genesMYOTAbout this report →
- Ehlers-Danlos SyndromeReads 1 of these genesDSEAbout this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 1 of these genesAMPD2About this report →
- Spinal Muscular AtrophyReads 1 of these genesDYNC1H1About this report →
- Limb-Girdle Muscular DystrophyReads 1 of these genesMYOTAbout this report →
- Osteogenesis ImperfectaReads 1 of these genesXYLT2About this report →
- Hypertrophic CardiomyopathyReads 1 of these genesDMPKAbout this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesDYNC1H1About this report →
- Other Inherited LeukodystrophiesReads 1 of these genesALDH3A2About this report →
- Congenital Disorders of GlycosylationReads 1 of these genesDSEAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 1 of these genesDYNC1H1About this report →
Les genene knyttet til Decreased facial muscle tone, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test57 gener knyttet til Decreased facial muscle tone
Endringer i disse genene forårsaker sjeldne tilstander der Decreased facial muscle tone 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 |
|---|---|---|
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Alltid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alltid | I 1 tilstand |
| GPC3glypican 3 | Alltid | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Alltid | I 2 tilstander |
| NGLY1N-glycanase 1 | Alltid | I 2 tilstander |
| SATB2SATB homeobox 2 | Alltid | I 1 tilstand |
| SLC30A9solute carrier family 30 member 9 | Alltid | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Alltid | I 1 tilstand |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| DMPKDM1 protein kinase | Svært ofte (80–99 %) | I 1 tilstand |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Ofte (30–79 %) | I 1 tilstand |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Ofte (30–79 %) | I 2 tilstander |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Ofte (30–79 %) | I 1 tilstand |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Ofte (30–79 %) | I 2 tilstander |
| ASXL1ASXL transcriptional regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Ofte (30–79 %) | I 1 tilstand |
| GAAalpha glucosidase | Ofte (30–79 %) | I 1 tilstand |
| KCNK4potassium two pore domain channel subfamily K member 4 | Ofte (30–79 %) | I 1 tilstand |
| KDM4Blysine demethylase 4B | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 2 tilstander |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Ofte (30–79 %) | I 2 tilstander |
| RNU4-2RNA, U4 small nuclear 2 | Ofte (30–79 %) | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Ofte (30–79 %) | I 1 tilstand |
| TET3tet methylcytosine dioxygenase 3 | Ofte (30–79 %) | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Noen ganger (5–29 %) | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Noen ganger (5–29 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MYOTmyotilin | Noen ganger (5–29 %) | I 1 tilstand |
| PAX7paired box 7 | Noen ganger (5–29 %) | I 1 tilstand |
| POU3F3POU class 3 homeobox 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Noen ganger (5–29 %) | I 1 tilstand |
| RAB11BRAB11B, member RAS oncogene family | Noen ganger (5–29 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
Vis 17 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| SETSET nuclear proto-oncogene | Noen ganger (5–29 %) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SRRM2serine/arginine repetitive matrix 2 | Noen ganger (5–29 %) | I 1 tilstand |
| STRADASTE20 related adaptor alpha | Noen ganger (5–29 %) | I 2 tilstander |
| YY1YY1 transcription factor | Noen ganger (5–29 %) | I 2 tilstander |
| ZSCAN10zinc finger and SCAN domain containing 10 | Noen ganger (5–29 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjelden (1–4%) | I 1 tilstand |
| AMPD2adenosine monophosphate deaminase 2 | Ikke registrert | I 1 tilstand |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Ikke registrert | I 1 tilstand |
| DSEdermatan sulfate epimerase | Ikke registrert | I 1 tilstand |
| KDM5Clysine demethylase 5C | Ikke registrert | I 1 tilstand |
| PCGF2polycomb group ring finger 2 | Ikke registrert | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Ikke registrert | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Ikke registrert | I 1 tilstand |
| ZBTB11zinc finger and BTB domain containing 11 | Ikke registrert | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | 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.
Bredere egenskaper
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 2026.10.19-9814e911.
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