Cecha
Decreased muscle tone in infant
Nazwa kliniczna: Floppy infant
Floppiness/hypotonia is defined as reduced resistance to passive movement of joints. Physical examination of floppy/hypotonic infants shows head lag, lack of shoulder and elbow muscle contraction on traction response, inability to tighten the shoulder girdle muscles (or slipping through) when held under the axillae, scarf sign (when the arm is pulled to the opposite side, the arm wraps around the neck with the elbow crossing midline), hyperdorsiflexion of the feet, easy apposition of the thumb against the forearm, feet touching the cheek with ease and without discomfort, frog leg position, and inverted U sign on ventral suspension (head, arms, and legs hanging down without elbow or knee flexion and the trunk rounded in a dome shape).
Podsumowanie
- Znana także jako
- Hypotonia early, Hypotonia in infancy, Hypotonia, early, Infantile hypotonia, Infantile muscular hypotonia
- Układ organizmu
- Abnormality of the musculoskeletal system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Decreased muscle tone in infant, and the rest of your genome, with one test.
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Zamawiam Genome Test205 genów powiązanych z Decreased muscle tone in infant
Zmiany w tych genach powodują rzadkie choroby, w których występuje Decreased muscle tone in infant. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| COG8component of oligomeric golgi complex 8 | Zawsze | W 2 chorobach |
| DSTdystonin | Zawsze | W 1 chorobie |
| KDM6Blysine demethylase 6B | Zawsze | W 1 chorobie |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Zawsze | W 1 chorobie |
| MECP2methyl-CpG binding protein 2 | Zawsze | W 2 chorobach |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Zawsze | W 2 chorobach |
| SIAH1siah E3 ubiquitin protein ligase 1 | Zawsze | W 1 chorobie |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Zawsze | W 2 chorobach |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Bardzo często (80–99%) | W 1 chorobie |
| ASXL3ASXL transcriptional regulator 3 | Bardzo często (80–99%) | W 1 chorobie |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Bardzo często (80–99%) | W 2 chorobach |
| ATP6V1AATPase H+ transporting V1 subunit A | Bardzo często (80–99%) | W 1 chorobie |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Bardzo często (80–99%) | W 1 chorobie |
| B4GALT1beta-1,4-galactosyltransferase 1 | Bardzo często (80–99%) | W 1 chorobie |
| COG5component of oligomeric golgi complex 5 | Bardzo często (80–99%) | W 1 chorobie |
| DCHS1dachsous cadherin-related 1 | Bardzo często (80–99%) | W 1 chorobie |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Bardzo często (80–99%) | W 1 chorobie |
| ERMARDER membrane associated RNA degradation | Bardzo często (80–99%) | W 1 chorobie |
| FAT4FAT atypical cadherin 4 | Bardzo często (80–99%) | W 1 chorobie |
| FKRPfukutin related protein | Bardzo często (80–99%) | W 1 chorobie |
| GAAalpha glucosidase | Bardzo często (80–99%) | W 1 chorobie |
| GLB1galactosidase beta 1 | Bardzo często (80–99%) | W 1 chorobie |
| GMPPBGDP-mannose pyrophosphorylase B | Bardzo często (80–99%) | W 1 chorobie |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Bardzo często (80–99%) | W 1 chorobie |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Bardzo często (80–99%) | W 1 chorobie |
| MAGEL2MAGE family member L2 | Bardzo często (80–99%) | W 1 chorobie |
| MAN1B1mannosidase alpha class 1B member 1 | Bardzo często (80–99%) | W 1 chorobie |
| NACC1nucleus accumbens associated 1 | Bardzo często (80–99%) | W 1 chorobie |
| NTNG2netrin G2 | Bardzo często (80–99%) | W 1 chorobie |
| PGAP2post-GPI attachment to proteins 2 | Bardzo często (80–99%) | W 1 chorobie |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Bardzo często (80–99%) | W 1 chorobie |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Bardzo często (80–99%) | W 1 chorobie |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Bardzo często (80–99%) | W 1 chorobie |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Bardzo często (80–99%) | W 1 chorobie |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Bardzo często (80–99%) | W 1 chorobie |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Bardzo często (80–99%) | W 1 chorobie |
| POMT1protein O-mannosyltransferase 1 | Bardzo często (80–99%) | W 1 chorobie |
| POMT2protein O-mannosyltransferase 2 | Bardzo często (80–99%) | W 1 chorobie |
| PRMT7protein arginine methyltransferase 7 | Bardzo często (80–99%) | W 1 chorobie |
| RAI1retinoic acid induced 1 | Bardzo często (80–99%) | W 1 chorobie |
Pokaż jeszcze 165 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| SIM1SIM bHLH transcription factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| SLC35A2solute carrier family 35 member A2 | Bardzo często (80–99%) | W 1 chorobie |
| SYT1synaptotagmin 1 | Bardzo często (80–99%) | W 1 chorobie |
| UGT1A1UDP glucuronosyltransferase family 1 member A1 | Bardzo często (80–99%) | W 1 chorobie |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Bardzo często (80–99%) | W 1 chorobie |
| AASSaminoadipate-semialdehyde synthase | Często (30–79%) | W 1 chorobie |
| ACADSacyl-CoA dehydrogenase short chain | Często (30–79%) | W 1 chorobie |
| ADARadenosine deaminase RNA specific | Często (30–79%) | W 1 chorobie |
| ADAT3adenosine deaminase tRNA specific 3 | Często (30–79%) | W 1 chorobie |
| ADGRG1adhesion G protein-coupled receptor G1 | Często (30–79%) | W 1 chorobie |
| ADNPactivity dependent neuroprotector homeobox | Często (30–79%) | W 1 chorobie |
| AFG2AAAA ATPase AFG2A | Często (30–79%) | W 1 chorobie |
| AHCYadenosylhomocysteinase | Często (30–79%) | W 1 chorobie |
| ARID1AAT-rich interaction domain 1A | Często (30–79%) | W 1 chorobie |
| ARID1BAT-rich interaction domain 1B | Często (30–79%) | W 1 chorobie |
| ARID2AT-rich interaction domain 2 | Często (30–79%) | W 1 chorobie |
| ARXaristaless related homeobox | Często (30–79%) | W 1 chorobie |
| ASAH1N-acylsphingosine amidohydrolase 1 | Często (30–79%) | W 1 chorobie |
| ATP10AATPase phospholipid transporting 10A (putative) | Często (30–79%) | W 1 chorobie |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Często (30–79%) | W 2 chorobach |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Często (30–79%) | W 1 chorobie |
| CASKcalcium/calmodulin dependent serine protein kinase | Często (30–79%) | W 2 chorobach |
| CDKL5cyclin dependent kinase like 5 | Często (30–79%) | W 1 chorobie |
| CDONcell adhesion associated, oncogene regulated | Często (30–79%) | W 4 chorobach |
| CPEcarboxypeptidase E | Często (30–79%) | W 1 chorobie |
| CRIPTOcripto, EGF-CFC family member | Często (30–79%) | W 4 chorobach |
| CWF19L1CWF19 like cell cycle control factor 1 | Często (30–79%) | W 1 chorobie |
| DAG1dystroglycan 1 | Często (30–79%) | W 1 chorobie |
| DEAF1DEAF1 transcription factor | Często (30–79%) | W 1 chorobie |
| DISP1dispatched RND transporter family member 1 | Często (30–79%) | W 4 chorobach |
| DLL1delta like canonical Notch ligand 1 | Często (30–79%) | W 4 chorobach |
| DMXL2Dmx like 2 | Często (30–79%) | W 1 chorobie |
| DNMT3ADNA methyltransferase 3 alpha | Często (30–79%) | W 1 chorobie |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Często (30–79%) | W 1 chorobie |
| DPF2double PHD fingers 2 | Często (30–79%) | W 1 chorobie |
| DPYDdihydropyrimidine dehydrogenase | Często (30–79%) | W 1 chorobie |
| EBF3EBF transcription factor 3 | Często (30–79%) | W 2 chorobach |
| FGF8fibroblast growth factor 8 | Często (30–79%) | W 4 chorobach |
| FGFR1fibroblast growth factor receptor 1 | Często (30–79%) | W 2 chorobach |
| FGFR3fibroblast growth factor receptor 3 | Często (30–79%) | W 2 chorobach |
| FOXH1forkhead box H1 | Często (30–79%) | W 4 chorobach |
| GAS1growth arrest specific 1 | Często (30–79%) | W 4 chorobach |
| GATAD2BGATA zinc finger domain containing 2B | Często (30–79%) | W 1 chorobie |
| GLI2GLI family zinc finger 2 | Często (30–79%) | W 4 chorobach |
| GLYCTKglycerate kinase | Często (30–79%) | W 1 chorobie |
| GNAO1G protein subunit alpha o1 | Często (30–79%) | W 1 chorobie |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Często (30–79%) | W 1 chorobie |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Często (30–79%) | W 1 chorobie |
| GRM7glutamate metabotropic receptor 7 | Często (30–79%) | W 1 chorobie |
| GTPBP3GTP binding protein 3, mitochondrial | Często (30–79%) | W 1 chorobie |
| ITCHitchy E3 ubiquitin protein ligase | Często (30–79%) | W 1 chorobie |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Często (30–79%) | W 1 chorobie |
| KDM6Alysine demethylase 6A | Często (30–79%) | W 1 chorobie |
| KMT2Dlysine methyltransferase 2D | Często (30–79%) | W 1 chorobie |
| LGI1leucine rich glioma inactivated 1 | Często (30–79%) | W 1 chorobie |
| LRP5LDL receptor related protein 5 | Często (30–79%) | W 1 chorobie |
| MAFMAF bZIP transcription factor | Często (30–79%) | W 1 chorobie |
| MED12mediator complex subunit 12 | Często (30–79%) | W 1 chorobie |
| MOGSmannosyl-oligosaccharide glucosidase | Często (30–79%) | W 1 chorobie |
| MPDU1mannose-P-dolichol utilization defect 1 | Często (30–79%) | W 1 chorobie |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Często (30–79%) | W 2 chorobach |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Często (30–79%) | W 1 chorobie |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Często (30–79%) | W 1 chorobie |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Często (30–79%) | W 1 chorobie |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Często (30–79%) | W 1 chorobie |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Często (30–79%) | W 1 chorobie |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Często (30–79%) | W 1 chorobie |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Często (30–79%) | W 1 chorobie |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Często (30–79%) | W 2 chorobach |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Często (30–79%) | W 1 chorobie |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Często (30–79%) | W 1 chorobie |
| MYT1Lmyelin transcription factor 1 like | Często (30–79%) | W 1 chorobie |
| NAGSN-acetylglutamate synthase | Często (30–79%) | W 1 chorobie |
| NEU1neuraminidase 1 | Często (30–79%) | W 1 chorobie |
| NEUROD2neuronal differentiation 2 | Często (30–79%) | W 1 chorobie |
| NKX2-1NK2 homeobox 1 | Często (30–79%) | W 1 chorobie |
| NODALnodal growth differentiation factor | Często (30–79%) | W 4 chorobach |
| NUP54nucleoporin 54 | Często (30–79%) | W 1 chorobie |
| NUP62nucleoporin 62 | Często (30–79%) | W 1 chorobie |
| OCA2OCA2 melanosomal transmembrane protein | Często (30–79%) | W 1 chorobie |
| PACS1phosphofurin acidic cluster sorting protein 1 | Często (30–79%) | W 1 chorobie |
| PI4KAphosphatidylinositol 4-kinase alpha | Często (30–79%) | W 1 chorobie |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Często (30–79%) | W 1 chorobie |
| PLCH1phospholipase C eta 1 | Często (30–79%) | W 1 chorobie |
| PNKPpolynucleotide kinase 3'-phosphatase | Często (30–79%) | W 1 chorobie |
| POGZpogo transposable element derived with ZNF domain | Często (30–79%) | W 1 chorobie |
| PTCH1patched 1 | Często (30–79%) | W 4 chorobach |
| RAC1Rac family small GTPase 1 | Często (30–79%) | W 1 chorobie |
| RHOBTB2Rho related BTB domain containing 2 | Często (30–79%) | W 1 chorobie |
| RPL10ribosomal protein L10 | Często (30–79%) | W 1 chorobie |
| SATB2SATB homeobox 2 | Często (30–79%) | W 1 chorobie |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Często (30–79%) | W 2 chorobach |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Często (30–79%) | W 2 chorobach |
| SHHsonic hedgehog signaling molecule | Często (30–79%) | W 4 chorobach |
| SIK1salt inducible kinase 1 | Często (30–79%) | W 1 chorobie |
| SIX3SIX homeobox 3 | Często (30–79%) | W 4 chorobach |
| SLC25A22solute carrier family 25 member 22 | Często (30–79%) | W 1 chorobie |
| SLC32A1solute carrier family 32 member 1 | Często (30–79%) | W 1 chorobie |
| SLC7A7solute carrier family 7 member 7 | Często (30–79%) | W 1 chorobie |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Często (30–79%) | W 1 chorobie |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Często (30–79%) | W 1 chorobie |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Często (30–79%) | W 1 chorobie |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Często (30–79%) | W 1 chorobie |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Często (30–79%) | W 1 chorobie |
| SMC1Astructural maintenance of chromosomes 1A | Często (30–79%) | W 1 chorobie |
| SMSspermine synthase | Często (30–79%) | W 1 chorobie |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Często (30–79%) | W 1 chorobie |
| SONSON DNA and RNA binding protein | Często (30–79%) | W 1 chorobie |
| SOX11SRY-box transcription factor 11 | Często (30–79%) | W 1 chorobie |
| SOX4SRY-box transcription factor 4 | Często (30–79%) | W 1 chorobie |
| SRD5A3steroid 5 alpha-reductase 3 | Często (30–79%) | W 1 chorobie |
| SRPX2sushi repeat containing protein X-linked 2 | Często (30–79%) | W 1 chorobie |
| STAG2STAG2 cohesin complex component | Często (30–79%) | W 2 chorobach |
| STILSTIL centriolar assembly protein | Często (30–79%) | W 4 chorobach |
| TBC1D24TBC1 domain family member 24 | Często (30–79%) | W 1 chorobie |
| TBCDtubulin folding cofactor D | Często (30–79%) | W 1 chorobie |
| TELO2telomere maintenance 2 | Często (30–79%) | W 1 chorobie |
| TGIF1TGFB induced factor homeobox 1 | Często (30–79%) | W 4 chorobach |
| TNNT1troponin T1, slow skeletal type | Często (30–79%) | W 1 chorobie |
| TRIM8tripartite motif containing 8 | Często (30–79%) | W 1 chorobie |
| UBA1ubiquitin like modifier activating enzyme 1 | Często (30–79%) | W 1 chorobie |
| UBE3Aubiquitin protein ligase E3A | Często (30–79%) | W 4 chorobach |
| USP9Xubiquitin specific peptidase 9 X-linked | Często (30–79%) | W 1 chorobie |
| ZEB2zinc finger E-box binding homeobox 2 | Często (30–79%) | W 2 chorobach |
| ZIC2Zic family zinc finger 2 | Często (30–79%) | W 4 chorobach |
| CDC42cell division cycle 42 | Czasami (5–29%) | W 1 chorobie |
| CLCN4Cl-/H+ antiporter 4 | Czasami (5–29%) | W 1 chorobie |
| CLTCL1clathrin heavy chain like 1 | Czasami (5–29%) | W 1 chorobie |
| DLK1delta like non-canonical Notch ligand 1 | Czasami (5–29%) | W 1 chorobie |
| DOLKdolichol kinase | Czasami (5–29%) | W 1 chorobie |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Czasami (5–29%) | W 1 chorobie |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Czasami (5–29%) | W 1 chorobie |
| GNB1G protein subunit beta 1 | Czasami (5–29%) | W 1 chorobie |
| H19H19 imprinted maternally expressed transcript | Czasami (5–29%) | W 1 chorobie |
| H4C5H4 clustered histone 5 | Czasami (5–29%) | W 1 chorobie |
| IGF2insulin like growth factor 2 | Czasami (5–29%) | W 1 chorobie |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Czasami (5–29%) | W 1 chorobie |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Czasami (5–29%) | W 1 chorobie |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Czasami (5–29%) | W 1 chorobie |
| KIF15kinesin family member 15 | Czasami (5–29%) | W 1 chorobie |
| MEG3maternally expressed 3 | Czasami (5–29%) | W 1 chorobie |
| MTRFRmitochondrial translation release factor in rescue | Czasami (5–29%) | W 1 chorobie |
| NEK1NIMA related kinase 1 | Czasami (5–29%) | W 1 chorobie |
| OPLAH5-oxoprolinase, ATP-hydrolysing | Czasami (5–29%) | W 1 chorobie |
| PCDH19protocadherin 19 | Czasami (5–29%) | W 1 chorobie |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Czasami (5–29%) | W 1 chorobie |
| PRDM5PR/SET domain 5 | Czasami (5–29%) | W 1 chorobie |
| RTL1retrotransposon Gag like 1 | Czasami (5–29%) | W 1 chorobie |
| SARDHsarcosine dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Czasami (5–29%) | W 1 chorobie |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Czasami (5–29%) | W 1 chorobie |
| SLC19A3solute carrier family 19 member 3 | Czasami (5–29%) | W 1 chorobie |
| TRAPPC11trafficking protein particle complex subunit 11 | Czasami (5–29%) | W 2 chorobach |
| TUBB2Btubulin beta 2B class IIb | Czasami (5–29%) | W 1 chorobie |
| UBTFupstream binding transcription factor | Czasami (5–29%) | W 1 chorobie |
| WDR83OSWD repeat domain 83 opposite strand | Czasami (5–29%) | W 1 chorobie |
| ZNF469zinc finger protein 469 | Czasami (5–29%) | W 1 chorobie |
| ACADVLacyl-CoA dehydrogenase very long chain | Rzadko (1–4%) | W 1 chorobie |
| BMP2bone morphogenetic protein 2 | Rzadko (1–4%) | W 1 chorobie |
| ATRXATRX chromatin remodeler | Nie odnotowano | W 2 chorobach |
| COL5A1collagen type V alpha 1 chain | Nie odnotowano | W 1 chorobie |
| GAMTguanidinoacetate N-methyltransferase | Nie odnotowano | W 1 chorobie |
| PEX13peroxisomal biogenesis factor 13 | Nie odnotowano | W 1 chorobie |
| SUOXsulfite oxidase | Nie odnotowano | W 1 chorobie |
| TRPS1transcriptional repressor GATA binding 1 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
Jeden test. Odpowiedzi na całe życie.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni