Kenmerk
Decreased facial muscle tone
Klinische naam: Facial hypotonia
Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).
Samenvatting
- Ook bekend als
- Low facial muscle tone, Reduced facial muscle tone, Hypotonic facies
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page$trait$nameLees de genen die aan Decreased facial muscle tone gekoppeld zijn, en de rest van uw genoom, met één test.
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Mijn Genome Test bestellen35 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 →
Lees de genen die aan Decreased facial muscle tone gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen57 genen gekoppeld aan Decreased facial muscle tone
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Decreased facial muscle tone 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 |
|---|---|---|
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Altijd | In 1 aandoening |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altijd | In 1 aandoening |
| GPC3glypican 3 | Altijd | In 1 aandoening |
| MECP2methyl-CpG binding protein 2 | Altijd | In 2 aandoeningen |
| NGLY1N-glycanase 1 | Altijd | In 2 aandoeningen |
| SATB2SATB homeobox 2 | Altijd | In 1 aandoening |
| SLC30A9solute carrier family 30 member 9 | Altijd | In 1 aandoening |
| UNC80unc-80 subunit of NALCN channel complex | Altijd | In 1 aandoening |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Heel vaak (80–99%) | In 1 aandoening |
| DMPKDM1 protein kinase | Heel vaak (80–99%) | In 1 aandoening |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Vaak (30–79%) | In 1 aandoening |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Vaak (30–79%) | In 2 aandoeningen |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Vaak (30–79%) | In 1 aandoening |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Vaak (30–79%) | In 2 aandoeningen |
| ASXL1ASXL transcriptional regulator 1 | Vaak (30–79%) | In 1 aandoening |
| FBXO22F-box protein 22 | Vaak (30–79%) | In 1 aandoening |
| GAAalpha glucosidase | Vaak (30–79%) | In 1 aandoening |
| KCNK4potassium two pore domain channel subfamily K member 4 | Vaak (30–79%) | In 1 aandoening |
| KDM4Blysine demethylase 4B | Vaak (30–79%) | In 1 aandoening |
| POGZpogo transposable element derived with ZNF domain | Vaak (30–79%) | In 2 aandoeningen |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Vaak (30–79%) | In 2 aandoeningen |
| RNU4-2RNA, U4 small nuclear 2 | Vaak (30–79%) | In 1 aandoening |
| STAG2STAG2 cohesin complex component | Vaak (30–79%) | In 1 aandoening |
| TET3tet methylcytosine dioxygenase 3 | Vaak (30–79%) | In 1 aandoening |
| XYLT2xylosyltransferase 2 | Vaak (30–79%) | In 1 aandoening |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Soms (5–29%) | In 1 aandoening |
| BORCS8BLOC-1 related complex subunit 8 | Soms (5–29%) | In 1 aandoening |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Soms (5–29%) | In 1 aandoening |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Soms (5–29%) | In 1 aandoening |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Soms (5–29%) | In 1 aandoening |
| MAN2B1mannosidase alpha class 2B member 1 | Soms (5–29%) | In 1 aandoening |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Soms (5–29%) | In 1 aandoening |
| MYOTmyotilin | Soms (5–29%) | In 1 aandoening |
| PAX7paired box 7 | Soms (5–29%) | In 1 aandoening |
| POU3F3POU class 3 homeobox 3 | Soms (5–29%) | In 1 aandoening |
| PURApurine rich element binding protein A | Soms (5–29%) | In 1 aandoening |
| RAB11BRAB11B, member RAS oncogene family | Soms (5–29%) | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Soms (5–29%) | In 1 aandoening |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Soms (5–29%) | In 1 aandoening |
Toon nog 17 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| SETSET nuclear proto-oncogene | Soms (5–29%) | In 1 aandoening |
| SLC1A3solute carrier family 1 member 3 | Soms (5–29%) | In 1 aandoening |
| SLC2A1solute carrier family 2 member 1 | Soms (5–29%) | In 1 aandoening |
| SRRM2serine/arginine repetitive matrix 2 | Soms (5–29%) | In 1 aandoening |
| STRADASTE20 related adaptor alpha | Soms (5–29%) | In 2 aandoeningen |
| YY1YY1 transcription factor | Soms (5–29%) | In 2 aandoeningen |
| ZSCAN10zinc finger and SCAN domain containing 10 | Soms (5–29%) | In 1 aandoening |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Zelden (1–4%) | In 1 aandoening |
| AMPD2adenosine monophosphate deaminase 2 | Niet vastgelegd | In 1 aandoening |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Niet vastgelegd | In 1 aandoening |
| DSEdermatan sulfate epimerase | Niet vastgelegd | In 1 aandoening |
| KDM5Clysine demethylase 5C | Niet vastgelegd | In 1 aandoening |
| PCGF2polycomb group ring finger 2 | Niet vastgelegd | In 1 aandoening |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Niet vastgelegd | In 1 aandoening |
| VPS13Bvacuolar protein sorting 13 homolog B | Niet vastgelegd | In 1 aandoening |
| ZBTB11zinc finger and BTB domain containing 11 | Niet vastgelegd | In 1 aandoening |
| ZMIZ1zinc finger MIZ-type containing 1 | 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.
Bredere kenmerken
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 2026.10.19-9814e911.
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