Kenmerk
Decreased muscle tone in infant
Klinische naam: 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).
Samenvatting
- Ook bekend als
- Hypotonia early, Hypotonia in infancy, Hypotonia, early, Infantile hypotonia, Infantile muscular hypotonia
- Lichaamssysteem
- Abnormality of the musculoskeletal system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Decreased muscle tone in infant 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 |
|---|---|---|
| COG8component of oligomeric golgi complex 8 | Altijd | In 2 aandoeningen |
| DSTdystonin | Altijd | In 1 aandoening |
| KDM6Blysine demethylase 6B | Altijd | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Altijd | In 1 aandoening |
| MECP2methyl-CpG binding protein 2 | Altijd | In 2 aandoeningen |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Altijd | In 2 aandoeningen |
| SIAH1siah E3 ubiquitin protein ligase 1 | Altijd | In 1 aandoening |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Altijd | In 2 aandoeningen |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| ASXL3ASXL transcriptional regulator 3 | Heel vaak (80–99%) | In 1 aandoening |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Heel vaak (80–99%) | In 2 aandoeningen |
| ATP6V1AATPase H+ transporting V1 subunit A | Heel vaak (80–99%) | In 1 aandoening |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Heel vaak (80–99%) | In 1 aandoening |
| B4GALT1beta-1,4-galactosyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| COG5component of oligomeric golgi complex 5 | Heel vaak (80–99%) | In 1 aandoening |
| DCHS1dachsous cadherin-related 1 | Heel vaak (80–99%) | In 1 aandoening |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Heel vaak (80–99%) | In 1 aandoening |
| ERMARDER membrane associated RNA degradation | Heel vaak (80–99%) | In 1 aandoening |
| FAT4FAT atypical cadherin 4 | Heel vaak (80–99%) | In 1 aandoening |
| FKRPfukutin related protein | Heel vaak (80–99%) | In 1 aandoening |
| GAAalpha glucosidase | Heel vaak (80–99%) | In 1 aandoening |
| GLB1galactosidase beta 1 | Heel vaak (80–99%) | In 1 aandoening |
| GMPPBGDP-mannose pyrophosphorylase B | Heel vaak (80–99%) | In 1 aandoening |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Heel vaak (80–99%) | In 1 aandoening |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| MAGEL2MAGE family member L2 | Heel vaak (80–99%) | In 1 aandoening |
| MAN1B1mannosidase alpha class 1B member 1 | Heel vaak (80–99%) | In 1 aandoening |
| NACC1nucleus accumbens associated 1 | Heel vaak (80–99%) | In 1 aandoening |
| NTNG2netrin G2 | Heel vaak (80–99%) | In 1 aandoening |
| PGAP2post-GPI attachment to proteins 2 | Heel vaak (80–99%) | In 1 aandoening |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Heel vaak (80–99%) | In 1 aandoening |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Heel vaak (80–99%) | In 1 aandoening |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Heel vaak (80–99%) | In 1 aandoening |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Heel vaak (80–99%) | In 1 aandoening |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Heel vaak (80–99%) | In 1 aandoening |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Heel vaak (80–99%) | In 1 aandoening |
| POMT1protein O-mannosyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| POMT2protein O-mannosyltransferase 2 | Heel vaak (80–99%) | In 1 aandoening |
| PRMT7protein arginine methyltransferase 7 | Heel vaak (80–99%) | In 1 aandoening |
| RAI1retinoic acid induced 1 | Heel vaak (80–99%) | In 1 aandoening |
Toon nog 165 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| SIM1SIM bHLH transcription factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| SLC35A2solute carrier family 35 member A2 | Heel vaak (80–99%) | In 1 aandoening |
| SYT1synaptotagmin 1 | Heel vaak (80–99%) | In 1 aandoening |
| UGT1A1UDP glucuronosyltransferase family 1 member A1 | Heel vaak (80–99%) | In 1 aandoening |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Heel vaak (80–99%) | In 1 aandoening |
| AASSaminoadipate-semialdehyde synthase | Vaak (30–79%) | In 1 aandoening |
| ACADSacyl-CoA dehydrogenase short chain | Vaak (30–79%) | In 1 aandoening |
| ADARadenosine deaminase RNA specific | Vaak (30–79%) | In 1 aandoening |
| ADAT3adenosine deaminase tRNA specific 3 | Vaak (30–79%) | In 1 aandoening |
| ADGRG1adhesion G protein-coupled receptor G1 | Vaak (30–79%) | In 1 aandoening |
| ADNPactivity dependent neuroprotector homeobox | Vaak (30–79%) | In 1 aandoening |
| AFG2AAAA ATPase AFG2A | Vaak (30–79%) | In 1 aandoening |
| AHCYadenosylhomocysteinase | Vaak (30–79%) | In 1 aandoening |
| ARID1AAT-rich interaction domain 1A | Vaak (30–79%) | In 1 aandoening |
| ARID1BAT-rich interaction domain 1B | Vaak (30–79%) | In 1 aandoening |
| ARID2AT-rich interaction domain 2 | Vaak (30–79%) | In 1 aandoening |
| ARXaristaless related homeobox | Vaak (30–79%) | In 1 aandoening |
| ASAH1N-acylsphingosine amidohydrolase 1 | Vaak (30–79%) | In 1 aandoening |
| ATP10AATPase phospholipid transporting 10A (putative) | Vaak (30–79%) | In 1 aandoening |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Vaak (30–79%) | In 2 aandoeningen |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Vaak (30–79%) | In 1 aandoening |
| CASKcalcium/calmodulin dependent serine protein kinase | Vaak (30–79%) | In 2 aandoeningen |
| CDKL5cyclin dependent kinase like 5 | Vaak (30–79%) | In 1 aandoening |
| CDONcell adhesion associated, oncogene regulated | Vaak (30–79%) | In 4 aandoeningen |
| CPEcarboxypeptidase E | Vaak (30–79%) | In 1 aandoening |
| CRIPTOcripto, EGF-CFC family member | Vaak (30–79%) | In 4 aandoeningen |
| CWF19L1CWF19 like cell cycle control factor 1 | Vaak (30–79%) | In 1 aandoening |
| DAG1dystroglycan 1 | Vaak (30–79%) | In 1 aandoening |
| DEAF1DEAF1 transcription factor | Vaak (30–79%) | In 1 aandoening |
| DISP1dispatched RND transporter family member 1 | Vaak (30–79%) | In 4 aandoeningen |
| DLL1delta like canonical Notch ligand 1 | Vaak (30–79%) | In 4 aandoeningen |
| DMXL2Dmx like 2 | Vaak (30–79%) | In 1 aandoening |
| DNMT3ADNA methyltransferase 3 alpha | Vaak (30–79%) | In 1 aandoening |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Vaak (30–79%) | In 1 aandoening |
| DPF2double PHD fingers 2 | Vaak (30–79%) | In 1 aandoening |
| DPYDdihydropyrimidine dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| EBF3EBF transcription factor 3 | Vaak (30–79%) | In 2 aandoeningen |
| FGF8fibroblast growth factor 8 | Vaak (30–79%) | In 4 aandoeningen |
| FGFR1fibroblast growth factor receptor 1 | Vaak (30–79%) | In 2 aandoeningen |
| FGFR3fibroblast growth factor receptor 3 | Vaak (30–79%) | In 2 aandoeningen |
| FOXH1forkhead box H1 | Vaak (30–79%) | In 4 aandoeningen |
| GAS1growth arrest specific 1 | Vaak (30–79%) | In 4 aandoeningen |
| GATAD2BGATA zinc finger domain containing 2B | Vaak (30–79%) | In 1 aandoening |
| GLI2GLI family zinc finger 2 | Vaak (30–79%) | In 4 aandoeningen |
| GLYCTKglycerate kinase | Vaak (30–79%) | In 1 aandoening |
| GNAO1G protein subunit alpha o1 | Vaak (30–79%) | In 1 aandoening |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Vaak (30–79%) | In 1 aandoening |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Vaak (30–79%) | In 1 aandoening |
| GRM7glutamate metabotropic receptor 7 | Vaak (30–79%) | In 1 aandoening |
| GTPBP3GTP binding protein 3, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| ITCHitchy E3 ubiquitin protein ligase | Vaak (30–79%) | In 1 aandoening |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Vaak (30–79%) | In 1 aandoening |
| KDM6Alysine demethylase 6A | Vaak (30–79%) | In 1 aandoening |
| KMT2Dlysine methyltransferase 2D | Vaak (30–79%) | In 1 aandoening |
| LGI1leucine rich glioma inactivated 1 | Vaak (30–79%) | In 1 aandoening |
| LRP5LDL receptor related protein 5 | Vaak (30–79%) | In 1 aandoening |
| MAFMAF bZIP transcription factor | Vaak (30–79%) | In 1 aandoening |
| MED12mediator complex subunit 12 | Vaak (30–79%) | In 1 aandoening |
| MOGSmannosyl-oligosaccharide glucosidase | Vaak (30–79%) | In 1 aandoening |
| MPDU1mannose-P-dolichol utilization defect 1 | Vaak (30–79%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Vaak (30–79%) | In 2 aandoeningen |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Vaak (30–79%) | In 1 aandoening |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Vaak (30–79%) | In 1 aandoening |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Vaak (30–79%) | In 1 aandoening |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Vaak (30–79%) | In 1 aandoening |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Vaak (30–79%) | In 1 aandoening |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Vaak (30–79%) | In 1 aandoening |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Vaak (30–79%) | In 1 aandoening |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Vaak (30–79%) | In 2 aandoeningen |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Vaak (30–79%) | In 1 aandoening |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Vaak (30–79%) | In 1 aandoening |
| MYT1Lmyelin transcription factor 1 like | Vaak (30–79%) | In 1 aandoening |
| NAGSN-acetylglutamate synthase | Vaak (30–79%) | In 1 aandoening |
| NEU1neuraminidase 1 | Vaak (30–79%) | In 1 aandoening |
| NEUROD2neuronal differentiation 2 | Vaak (30–79%) | In 1 aandoening |
| NKX2-1NK2 homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| NODALnodal growth differentiation factor | Vaak (30–79%) | In 4 aandoeningen |
| NUP54nucleoporin 54 | Vaak (30–79%) | In 1 aandoening |
| NUP62nucleoporin 62 | Vaak (30–79%) | In 1 aandoening |
| OCA2OCA2 melanosomal transmembrane protein | Vaak (30–79%) | In 1 aandoening |
| PACS1phosphofurin acidic cluster sorting protein 1 | Vaak (30–79%) | In 1 aandoening |
| PI4KAphosphatidylinositol 4-kinase alpha | Vaak (30–79%) | In 1 aandoening |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Vaak (30–79%) | In 1 aandoening |
| PLCH1phospholipase C eta 1 | Vaak (30–79%) | In 1 aandoening |
| PNKPpolynucleotide kinase 3'-phosphatase | Vaak (30–79%) | In 1 aandoening |
| POGZpogo transposable element derived with ZNF domain | Vaak (30–79%) | In 1 aandoening |
| PTCH1patched 1 | Vaak (30–79%) | In 4 aandoeningen |
| RAC1Rac family small GTPase 1 | Vaak (30–79%) | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| RPL10ribosomal protein L10 | Vaak (30–79%) | In 1 aandoening |
| SATB2SATB homeobox 2 | Vaak (30–79%) | In 1 aandoening |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Vaak (30–79%) | In 2 aandoeningen |
| SHHsonic hedgehog signaling molecule | Vaak (30–79%) | In 4 aandoeningen |
| SIK1salt inducible kinase 1 | Vaak (30–79%) | In 1 aandoening |
| SIX3SIX homeobox 3 | Vaak (30–79%) | In 4 aandoeningen |
| SLC25A22solute carrier family 25 member 22 | Vaak (30–79%) | In 1 aandoening |
| SLC32A1solute carrier family 32 member 1 | Vaak (30–79%) | In 1 aandoening |
| SLC7A7solute carrier family 7 member 7 | Vaak (30–79%) | In 1 aandoening |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Vaak (30–79%) | In 1 aandoening |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Vaak (30–79%) | In 1 aandoening |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Vaak (30–79%) | In 1 aandoening |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Vaak (30–79%) | In 1 aandoening |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Vaak (30–79%) | In 1 aandoening |
| SMC1Astructural maintenance of chromosomes 1A | Vaak (30–79%) | In 1 aandoening |
| SMSspermine synthase | Vaak (30–79%) | In 1 aandoening |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Vaak (30–79%) | In 1 aandoening |
| SONSON DNA and RNA binding protein | Vaak (30–79%) | In 1 aandoening |
| SOX11SRY-box transcription factor 11 | Vaak (30–79%) | In 1 aandoening |
| SOX4SRY-box transcription factor 4 | Vaak (30–79%) | In 1 aandoening |
| SRD5A3steroid 5 alpha-reductase 3 | Vaak (30–79%) | In 1 aandoening |
| SRPX2sushi repeat containing protein X-linked 2 | Vaak (30–79%) | In 1 aandoening |
| STAG2STAG2 cohesin complex component | Vaak (30–79%) | In 2 aandoeningen |
| STILSTIL centriolar assembly protein | Vaak (30–79%) | In 4 aandoeningen |
| TBC1D24TBC1 domain family member 24 | Vaak (30–79%) | In 1 aandoening |
| TBCDtubulin folding cofactor D | Vaak (30–79%) | In 1 aandoening |
| TELO2telomere maintenance 2 | Vaak (30–79%) | In 1 aandoening |
| TGIF1TGFB induced factor homeobox 1 | Vaak (30–79%) | In 4 aandoeningen |
| TNNT1troponin T1, slow skeletal type | Vaak (30–79%) | In 1 aandoening |
| TRIM8tripartite motif containing 8 | Vaak (30–79%) | In 1 aandoening |
| UBA1ubiquitin like modifier activating enzyme 1 | Vaak (30–79%) | In 1 aandoening |
| UBE3Aubiquitin protein ligase E3A | Vaak (30–79%) | In 4 aandoeningen |
| USP9Xubiquitin specific peptidase 9 X-linked | Vaak (30–79%) | In 1 aandoening |
| ZEB2zinc finger E-box binding homeobox 2 | Vaak (30–79%) | In 2 aandoeningen |
| ZIC2Zic family zinc finger 2 | Vaak (30–79%) | In 4 aandoeningen |
| CDC42cell division cycle 42 | Soms (5–29%) | In 1 aandoening |
| CLCN4Cl-/H+ antiporter 4 | Soms (5–29%) | In 1 aandoening |
| CLTCL1clathrin heavy chain like 1 | Soms (5–29%) | In 1 aandoening |
| DLK1delta like non-canonical Notch ligand 1 | Soms (5–29%) | In 1 aandoening |
| DOLKdolichol kinase | Soms (5–29%) | In 1 aandoening |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Soms (5–29%) | In 1 aandoening |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Soms (5–29%) | In 1 aandoening |
| GNB1G protein subunit beta 1 | Soms (5–29%) | In 1 aandoening |
| H19H19 imprinted maternally expressed transcript | Soms (5–29%) | In 1 aandoening |
| H4C5H4 clustered histone 5 | Soms (5–29%) | In 1 aandoening |
| IGF2insulin like growth factor 2 | Soms (5–29%) | In 1 aandoening |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Soms (5–29%) | In 1 aandoening |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Soms (5–29%) | In 1 aandoening |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Soms (5–29%) | In 1 aandoening |
| KIF15kinesin family member 15 | Soms (5–29%) | In 1 aandoening |
| MEG3maternally expressed 3 | Soms (5–29%) | In 1 aandoening |
| MTRFRmitochondrial translation release factor in rescue | Soms (5–29%) | In 1 aandoening |
| NEK1NIMA related kinase 1 | Soms (5–29%) | In 1 aandoening |
| OPLAH5-oxoprolinase, ATP-hydrolysing | Soms (5–29%) | In 1 aandoening |
| PCDH19protocadherin 19 | Soms (5–29%) | In 1 aandoening |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Soms (5–29%) | In 1 aandoening |
| PRDM5PR/SET domain 5 | Soms (5–29%) | In 1 aandoening |
| RTL1retrotransposon Gag like 1 | Soms (5–29%) | In 1 aandoening |
| SARDHsarcosine dehydrogenase | Soms (5–29%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Soms (5–29%) | In 1 aandoening |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Soms (5–29%) | In 1 aandoening |
| SLC19A3solute carrier family 19 member 3 | Soms (5–29%) | In 1 aandoening |
| TRAPPC11trafficking protein particle complex subunit 11 | Soms (5–29%) | In 2 aandoeningen |
| TUBB2Btubulin beta 2B class IIb | Soms (5–29%) | In 1 aandoening |
| UBTFupstream binding transcription factor | Soms (5–29%) | In 1 aandoening |
| WDR83OSWD repeat domain 83 opposite strand | Soms (5–29%) | In 1 aandoening |
| ZNF469zinc finger protein 469 | Soms (5–29%) | In 1 aandoening |
| ACADVLacyl-CoA dehydrogenase very long chain | Zelden (1–4%) | In 1 aandoening |
| BMP2bone morphogenetic protein 2 | Zelden (1–4%) | In 1 aandoening |
| ATRXATRX chromatin remodeler | Niet vastgelegd | In 2 aandoeningen |
| COL5A1collagen type V alpha 1 chain | Niet vastgelegd | In 1 aandoening |
| GAMTguanidinoacetate N-methyltransferase | Niet vastgelegd | In 1 aandoening |
| PEX13peroxisomal biogenesis factor 13 | Niet vastgelegd | In 1 aandoening |
| SUOXsulfite oxidase | Niet vastgelegd | In 1 aandoening |
| TRPS1transcriptional repressor GATA binding 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.
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- 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 2026.10.16-c6eea6bf.
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