Požymis
Decreased muscle tone in infant
Klinikinis pavadinimas: 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).
Santrauka
- Taip pat vadinama
- Hypotonia early, Hypotonia in infancy, Hypotonia, early, Infantile hypotonia, Infantile muscular hypotonia
- Kūno sistema
- Abnormality of the musculoskeletal system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Decreased muscle tone in infant. 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 |
|---|---|---|
| COG8component of oligomeric golgi complex 8 | Visada | 2 ligose |
| DSTdystonin | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Visada | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Visada | 2 ligose |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Visada | 2 ligose |
| SIAH1siah E3 ubiquitin protein ligase 1 | Visada | 1 ligoje |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Visada | 2 ligose |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| ASXL3ASXL transcriptional regulator 3 | Labai dažnai (80–99%) | 1 ligoje |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Labai dažnai (80–99%) | 2 ligose |
| ATP6V1AATPase H+ transporting V1 subunit A | Labai dažnai (80–99%) | 1 ligoje |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Labai dažnai (80–99%) | 1 ligoje |
| B4GALT1beta-1,4-galactosyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| COG5component of oligomeric golgi complex 5 | Labai dažnai (80–99%) | 1 ligoje |
| DCHS1dachsous cadherin-related 1 | Labai dažnai (80–99%) | 1 ligoje |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Labai dažnai (80–99%) | 1 ligoje |
| ERMARDER membrane associated RNA degradation | Labai dažnai (80–99%) | 1 ligoje |
| FAT4FAT atypical cadherin 4 | Labai dažnai (80–99%) | 1 ligoje |
| FKRPfukutin related protein | Labai dažnai (80–99%) | 1 ligoje |
| GAAalpha glucosidase | Labai dažnai (80–99%) | 1 ligoje |
| GLB1galactosidase beta 1 | Labai dažnai (80–99%) | 1 ligoje |
| GMPPBGDP-mannose pyrophosphorylase B | Labai dažnai (80–99%) | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Labai dažnai (80–99%) | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| MAGEL2MAGE family member L2 | Labai dažnai (80–99%) | 1 ligoje |
| MAN1B1mannosidase alpha class 1B member 1 | Labai dažnai (80–99%) | 1 ligoje |
| NACC1nucleus accumbens associated 1 | Labai dažnai (80–99%) | 1 ligoje |
| NTNG2netrin G2 | Labai dažnai (80–99%) | 1 ligoje |
| PGAP2post-GPI attachment to proteins 2 | Labai dažnai (80–99%) | 1 ligoje |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Labai dažnai (80–99%) | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Labai dažnai (80–99%) | 1 ligoje |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Labai dažnai (80–99%) | 1 ligoje |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Labai dažnai (80–99%) | 1 ligoje |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Labai dažnai (80–99%) | 1 ligoje |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Labai dažnai (80–99%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| POMT2protein O-mannosyltransferase 2 | Labai dažnai (80–99%) | 1 ligoje |
| PRMT7protein arginine methyltransferase 7 | Labai dažnai (80–99%) | 1 ligoje |
| RAI1retinoic acid induced 1 | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 165 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| SIM1SIM bHLH transcription factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| SLC35A2solute carrier family 35 member A2 | Labai dažnai (80–99%) | 1 ligoje |
| SYT1synaptotagmin 1 | Labai dažnai (80–99%) | 1 ligoje |
| UGT1A1UDP glucuronosyltransferase family 1 member A1 | Labai dažnai (80–99%) | 1 ligoje |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Labai dažnai (80–99%) | 1 ligoje |
| AASSaminoadipate-semialdehyde synthase | Dažnai (30–79%) | 1 ligoje |
| ACADSacyl-CoA dehydrogenase short chain | Dažnai (30–79%) | 1 ligoje |
| ADARadenosine deaminase RNA specific | Dažnai (30–79%) | 1 ligoje |
| ADAT3adenosine deaminase tRNA specific 3 | Dažnai (30–79%) | 1 ligoje |
| ADGRG1adhesion G protein-coupled receptor G1 | Dažnai (30–79%) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Dažnai (30–79%) | 1 ligoje |
| AFG2AAAA ATPase AFG2A | Dažnai (30–79%) | 1 ligoje |
| AHCYadenosylhomocysteinase | Dažnai (30–79%) | 1 ligoje |
| ARID1AAT-rich interaction domain 1A | Dažnai (30–79%) | 1 ligoje |
| ARID1BAT-rich interaction domain 1B | Dažnai (30–79%) | 1 ligoje |
| ARID2AT-rich interaction domain 2 | Dažnai (30–79%) | 1 ligoje |
| ARXaristaless related homeobox | Dažnai (30–79%) | 1 ligoje |
| ASAH1N-acylsphingosine amidohydrolase 1 | Dažnai (30–79%) | 1 ligoje |
| ATP10AATPase phospholipid transporting 10A (putative) | Dažnai (30–79%) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Dažnai (30–79%) | 2 ligose |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Dažnai (30–79%) | 1 ligoje |
| CASKcalcium/calmodulin dependent serine protein kinase | Dažnai (30–79%) | 2 ligose |
| CDKL5cyclin dependent kinase like 5 | Dažnai (30–79%) | 1 ligoje |
| CDONcell adhesion associated, oncogene regulated | Dažnai (30–79%) | 4 ligose |
| CPEcarboxypeptidase E | Dažnai (30–79%) | 1 ligoje |
| CRIPTOcripto, EGF-CFC family member | Dažnai (30–79%) | 4 ligose |
| CWF19L1CWF19 like cell cycle control factor 1 | Dažnai (30–79%) | 1 ligoje |
| DAG1dystroglycan 1 | Dažnai (30–79%) | 1 ligoje |
| DEAF1DEAF1 transcription factor | Dažnai (30–79%) | 1 ligoje |
| DISP1dispatched RND transporter family member 1 | Dažnai (30–79%) | 4 ligose |
| DLL1delta like canonical Notch ligand 1 | Dažnai (30–79%) | 4 ligose |
| DMXL2Dmx like 2 | Dažnai (30–79%) | 1 ligoje |
| DNMT3ADNA methyltransferase 3 alpha | Dažnai (30–79%) | 1 ligoje |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Dažnai (30–79%) | 1 ligoje |
| DPF2double PHD fingers 2 | Dažnai (30–79%) | 1 ligoje |
| DPYDdihydropyrimidine dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| EBF3EBF transcription factor 3 | Dažnai (30–79%) | 2 ligose |
| FGF8fibroblast growth factor 8 | Dažnai (30–79%) | 4 ligose |
| FGFR1fibroblast growth factor receptor 1 | Dažnai (30–79%) | 2 ligose |
| FGFR3fibroblast growth factor receptor 3 | Dažnai (30–79%) | 2 ligose |
| FOXH1forkhead box H1 | Dažnai (30–79%) | 4 ligose |
| GAS1growth arrest specific 1 | Dažnai (30–79%) | 4 ligose |
| GATAD2BGATA zinc finger domain containing 2B | Dažnai (30–79%) | 1 ligoje |
| GLI2GLI family zinc finger 2 | Dažnai (30–79%) | 4 ligose |
| GLYCTKglycerate kinase | Dažnai (30–79%) | 1 ligoje |
| GNAO1G protein subunit alpha o1 | Dažnai (30–79%) | 1 ligoje |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Dažnai (30–79%) | 1 ligoje |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Dažnai (30–79%) | 1 ligoje |
| GRM7glutamate metabotropic receptor 7 | Dažnai (30–79%) | 1 ligoje |
| GTPBP3GTP binding protein 3, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| ITCHitchy E3 ubiquitin protein ligase | Dažnai (30–79%) | 1 ligoje |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Dažnai (30–79%) | 1 ligoje |
| KDM6Alysine demethylase 6A | Dažnai (30–79%) | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Dažnai (30–79%) | 1 ligoje |
| LGI1leucine rich glioma inactivated 1 | Dažnai (30–79%) | 1 ligoje |
| LRP5LDL receptor related protein 5 | Dažnai (30–79%) | 1 ligoje |
| MAFMAF bZIP transcription factor | Dažnai (30–79%) | 1 ligoje |
| MED12mediator complex subunit 12 | Dažnai (30–79%) | 1 ligoje |
| MOGSmannosyl-oligosaccharide glucosidase | Dažnai (30–79%) | 1 ligoje |
| MPDU1mannose-P-dolichol utilization defect 1 | Dažnai (30–79%) | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Dažnai (30–79%) | 2 ligose |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Dažnai (30–79%) | 1 ligoje |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Dažnai (30–79%) | 1 ligoje |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Dažnai (30–79%) | 1 ligoje |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Dažnai (30–79%) | 1 ligoje |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Dažnai (30–79%) | 1 ligoje |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Dažnai (30–79%) | 1 ligoje |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Dažnai (30–79%) | 1 ligoje |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Dažnai (30–79%) | 2 ligose |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Dažnai (30–79%) | 1 ligoje |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Dažnai (30–79%) | 1 ligoje |
| MYT1Lmyelin transcription factor 1 like | Dažnai (30–79%) | 1 ligoje |
| NAGSN-acetylglutamate synthase | Dažnai (30–79%) | 1 ligoje |
| NEU1neuraminidase 1 | Dažnai (30–79%) | 1 ligoje |
| NEUROD2neuronal differentiation 2 | Dažnai (30–79%) | 1 ligoje |
| NKX2-1NK2 homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| NODALnodal growth differentiation factor | Dažnai (30–79%) | 4 ligose |
| NUP54nucleoporin 54 | Dažnai (30–79%) | 1 ligoje |
| NUP62nucleoporin 62 | Dažnai (30–79%) | 1 ligoje |
| OCA2OCA2 melanosomal transmembrane protein | Dažnai (30–79%) | 1 ligoje |
| PACS1phosphofurin acidic cluster sorting protein 1 | Dažnai (30–79%) | 1 ligoje |
| PI4KAphosphatidylinositol 4-kinase alpha | Dažnai (30–79%) | 1 ligoje |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Dažnai (30–79%) | 1 ligoje |
| PLCH1phospholipase C eta 1 | Dažnai (30–79%) | 1 ligoje |
| PNKPpolynucleotide kinase 3'-phosphatase | Dažnai (30–79%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Dažnai (30–79%) | 1 ligoje |
| PTCH1patched 1 | Dažnai (30–79%) | 4 ligose |
| RAC1Rac family small GTPase 1 | Dažnai (30–79%) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| RPL10ribosomal protein L10 | Dažnai (30–79%) | 1 ligoje |
| SATB2SATB homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Dažnai (30–79%) | 2 ligose |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Dažnai (30–79%) | 2 ligose |
| SHHsonic hedgehog signaling molecule | Dažnai (30–79%) | 4 ligose |
| SIK1salt inducible kinase 1 | Dažnai (30–79%) | 1 ligoje |
| SIX3SIX homeobox 3 | Dažnai (30–79%) | 4 ligose |
| SLC25A22solute carrier family 25 member 22 | Dažnai (30–79%) | 1 ligoje |
| SLC32A1solute carrier family 32 member 1 | Dažnai (30–79%) | 1 ligoje |
| SLC7A7solute carrier family 7 member 7 | Dažnai (30–79%) | 1 ligoje |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Dažnai (30–79%) | 1 ligoje |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Dažnai (30–79%) | 1 ligoje |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Dažnai (30–79%) | 1 ligoje |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Dažnai (30–79%) | 1 ligoje |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Dažnai (30–79%) | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Dažnai (30–79%) | 1 ligoje |
| SMSspermine synthase | Dažnai (30–79%) | 1 ligoje |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Dažnai (30–79%) | 1 ligoje |
| SONSON DNA and RNA binding protein | Dažnai (30–79%) | 1 ligoje |
| SOX11SRY-box transcription factor 11 | Dažnai (30–79%) | 1 ligoje |
| SOX4SRY-box transcription factor 4 | Dažnai (30–79%) | 1 ligoje |
| SRD5A3steroid 5 alpha-reductase 3 | Dažnai (30–79%) | 1 ligoje |
| SRPX2sushi repeat containing protein X-linked 2 | Dažnai (30–79%) | 1 ligoje |
| STAG2STAG2 cohesin complex component | Dažnai (30–79%) | 2 ligose |
| STILSTIL centriolar assembly protein | Dažnai (30–79%) | 4 ligose |
| TBC1D24TBC1 domain family member 24 | Dažnai (30–79%) | 1 ligoje |
| TBCDtubulin folding cofactor D | Dažnai (30–79%) | 1 ligoje |
| TELO2telomere maintenance 2 | Dažnai (30–79%) | 1 ligoje |
| TGIF1TGFB induced factor homeobox 1 | Dažnai (30–79%) | 4 ligose |
| TNNT1troponin T1, slow skeletal type | Dažnai (30–79%) | 1 ligoje |
| TRIM8tripartite motif containing 8 | Dažnai (30–79%) | 1 ligoje |
| UBA1ubiquitin like modifier activating enzyme 1 | Dažnai (30–79%) | 1 ligoje |
| UBE3Aubiquitin protein ligase E3A | Dažnai (30–79%) | 4 ligose |
| USP9Xubiquitin specific peptidase 9 X-linked | Dažnai (30–79%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Dažnai (30–79%) | 2 ligose |
| ZIC2Zic family zinc finger 2 | Dažnai (30–79%) | 4 ligose |
| CDC42cell division cycle 42 | Kartais (5–29%) | 1 ligoje |
| CLCN4Cl-/H+ antiporter 4 | Kartais (5–29%) | 1 ligoje |
| CLTCL1clathrin heavy chain like 1 | Kartais (5–29%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| DOLKdolichol kinase | Kartais (5–29%) | 1 ligoje |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Kartais (5–29%) | 1 ligoje |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Kartais (5–29%) | 1 ligoje |
| GNB1G protein subunit beta 1 | Kartais (5–29%) | 1 ligoje |
| H19H19 imprinted maternally expressed transcript | Kartais (5–29%) | 1 ligoje |
| H4C5H4 clustered histone 5 | Kartais (5–29%) | 1 ligoje |
| IGF2insulin like growth factor 2 | Kartais (5–29%) | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Kartais (5–29%) | 1 ligoje |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Kartais (5–29%) | 1 ligoje |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Kartais (5–29%) | 1 ligoje |
| KIF15kinesin family member 15 | Kartais (5–29%) | 1 ligoje |
| MEG3maternally expressed 3 | Kartais (5–29%) | 1 ligoje |
| MTRFRmitochondrial translation release factor in rescue | Kartais (5–29%) | 1 ligoje |
| NEK1NIMA related kinase 1 | Kartais (5–29%) | 1 ligoje |
| OPLAH5-oxoprolinase, ATP-hydrolysing | Kartais (5–29%) | 1 ligoje |
| PCDH19protocadherin 19 | Kartais (5–29%) | 1 ligoje |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Kartais (5–29%) | 1 ligoje |
| PRDM5PR/SET domain 5 | Kartais (5–29%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Kartais (5–29%) | 1 ligoje |
| SARDHsarcosine dehydrogenase | Kartais (5–29%) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Kartais (5–29%) | 1 ligoje |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Kartais (5–29%) | 1 ligoje |
| SLC19A3solute carrier family 19 member 3 | Kartais (5–29%) | 1 ligoje |
| TRAPPC11trafficking protein particle complex subunit 11 | Kartais (5–29%) | 2 ligose |
| TUBB2Btubulin beta 2B class IIb | Kartais (5–29%) | 1 ligoje |
| UBTFupstream binding transcription factor | Kartais (5–29%) | 1 ligoje |
| WDR83OSWD repeat domain 83 opposite strand | Kartais (5–29%) | 1 ligoje |
| ZNF469zinc finger protein 469 | Kartais (5–29%) | 1 ligoje |
| ACADVLacyl-CoA dehydrogenase very long chain | Retai (1–4 %) | 1 ligoje |
| BMP2bone morphogenetic protein 2 | Retai (1–4 %) | 1 ligoje |
| ATRXATRX chromatin remodeler | Neužfiksuota | 2 ligose |
| COL5A1collagen type V alpha 1 chain | Neužfiksuota | 1 ligoje |
| GAMTguanidinoacetate N-methyltransferase | Neužfiksuota | 1 ligoje |
| PEX13peroxisomal biogenesis factor 13 | Neužfiksuota | 1 ligoje |
| SUOXsulfite oxidase | Neužfiksuota | 1 ligoje |
| TRPS1transcriptional repressor GATA binding 1 | 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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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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