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Merkmal
Thin corpus callosum
An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).
Zusammenfassung
- Auch genannt
- Small corpus callosum, Thinning of the corpus callosum
- Körpersystem
- Abnormality of the nervous system
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Lesen Sie die Gene aus, die mit Thin corpus callosum zusammenhängen, und den Rest Ihres Genoms, mit einem einzigen Test.
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Meinen Genome Test bestellen72 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.
- Epilepsy (Full Panel)Reads 22 of these genesATP6AP2DNM1FLNAGABRA1KCNT2PUM1About this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 7 of these genesMINPP1TSEN15EXOSC3EXOSC8EXOSC9SLC25A46About this report →
- Inherited Neurodegenerative DisordersReads 28 of these genesABHD16AAP5Z1ATP11ADNM1LFLVCR1FTH1About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 6 of these genesRNU4-2TBCKTRA2BAFG2AMYT1LNFIBAbout this report →
Show 68 more reports
- Intellectual DisabilityReads 19 of these genesATP6AP2KDM6BAHDC1DYRK1AHIVEP2MED23About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 4 of these genesKIF2ATUBBTUBB3TUBG1About this report →
- TubulinopathiesReads 2 of these genesTUBBTUBB3About this report →
- ADCY5-Related DyskinesiaReads 1 of these genesADCY5About this report →
- Asparagine Synthetase DeficiencyReads 1 of these genesASNSAbout this report →
- ATP1A2-Related Fetal Akinesia with PolymicrogyriaReads 1 of these genesATP1A2About this report →
- BRAT1-Related Neurodevelopmental Disorder with Cerebellar AtrophyReads 1 of these genesBRAT1About this report →
- Bryant-Li-Bhoj Neurodevelopmental Syndrome (H3-3A)Reads 1 of these genesH3-3AAbout this report →
- DIAPH1-Related Microcephaly, Seizures and Cortical BlindnessReads 1 of these genesDIAPH1About this report →
- ECHS1 DeficiencyReads 1 of these genesECHS1About this report →
- FDXR-Related Mitochondrial DisorderReads 1 of these genesFDXRAbout this report →
- GM1 Gangliosidosis and Morquio B SyndromeReads 1 of these genesGLB1About this report →
- Jaberi-Elahi SyndromeReads 1 of these genesGTPBP2About this report →
- KAT6B-Related DisordersReads 1 of these genesKAT6BAbout this report →
- MED27-Related Neurodevelopmental DisorderReads 1 of these genesMED27About this report →
- POLR3B-Related DisorderReads 1 of these genesPOLR3BAbout this report →
- Skraban-Deardorff SyndromeReads 1 of these genesWDR26About this report →
- Snijders Blok-Campeau SyndromeReads 1 of these genesCHD3About this report →
- TNR-Related Neurodevelopmental Disorder with SpasticityReads 1 of these genesTNRAbout this report →
- UNC13A-Related Neurodevelopmental DisordersReads 1 of these genesUNC13AAbout this report →
- Hereditary Spastic ParaplegiaReads 8 of these genesABHD16AAP5Z1NT5C2PLP1SPG21AMFRAbout this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 4 of these genesATP11APLP1POLR3BRNF220About this report →
- Primary Mitochondrial DiseaseReads 9 of these genesCARS2LYRM7POLG2TEFMCOQ4FBXL4About this report →
- Spinal Muscular AtrophyReads 4 of these genesTSEN15EXOSC3EXOSC8VRK1About this report →
- Disorders of Glycine & Serine MetabolismReads 2 of these genesGCSHSLC1A4About this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 1 of these genesNOTCH3About this report →
- Encephalopathy due to Mitochondrial and Peroxisomal Fission DefectReads 1 of these genesDNM1LAbout this report →
- Other Inherited LeukodystrophiesReads 6 of these genesATP11APLP1POLR3BRNF220DARS2NKX6-2About this report →
- Lissencephaly Spectrum DisordersReads 3 of these genesCEP85LMACF1TUBG1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 9 of these genesFDXRPOLR3BCOQ4ECHS1FBXL4GFM1About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 3 of these genesOTX2ROBO1GLI2About this report →
- Coffin-Siris SyndromeReads 2 of these genesARID2SMARCC2About this report →
- Familial Hemiplegic MigraineReads 1 of these genesATP1A2About this report →
- Monogenic Early-Onset OsteoporosisReads 1 of these genesCOPB2About this report →
- Mucolipidoses (ML II, ML III and ML IV)Reads 1 of these genesGNPTABAbout this report →
- Hereditary Optic NeuropathyReads 2 of these genesDNM1LATP1A3About this report →
- Congenital Disorders of GlycosylationReads 5 of these genesATP6AP2ALG2DHRSXPIGLPGAP3About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 3 of these genesPUM1ATP1A3ITPR1About this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 1 of these genesREREAbout this report →
- Molybdenum Cofactor & Isolated Sulfite Oxidase DeficiencyReads 1 of these genesMOCS2About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesNSD1About this report →
- GPI Anchor Biosynthesis DefectsReads 2 of these genesPIGLPGAP3About this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 3 of these genesFLVCR1AHI1WWOXAbout this report →
- Lysosomal Storage DiseaseReads 3 of these genesAP5Z1GLB1GNPTABAbout this report →
- Congenital Myasthenic SyndromeReads 2 of these genesALG2SYT2About this report →
- Congenital Cranial Dysinnervation DisordersReads 1 of these genesTUBB3About this report →
- Leigh SyndromeReads 3 of these genesECHS1FBXL4GFM1About this report →
- Familial Glucocorticoid DeficiencyReads 1 of these genesMRAPAbout this report →
- Inherited ThrombocytopeniasReads 2 of these genesRAP1BDIAPH1About this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 1 of these genesITPR1About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 1 of these genesNSD1About this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 1 of these genesFTH1About this report →
- Hypogonadotropic HypogonadismReads 2 of these genesOTX2ROBO1About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesFLNAAbout this report →
- Parkinson DiseaseReads 1 of these genesSYNJ1About this report →
- Hypertrophic CardiomyopathyReads 2 of these genesMAP2K2NSD1About this report →
- Cutis LaxaReads 1 of these genesATP6V1AAbout this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesHHATAbout this report →
- Distal MyopathiesReads 1 of these genesDNAJB4About this report →
- Charcot-Marie-Tooth DiseaseReads 2 of these genesPOLR3BVRK1About this report →
- Noonan SyndromeReads 1 of these genesMAP2K2About this report →
- Hearing Loss and DeafnessReads 2 of these genesATP11ADIAPH1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesOTX2About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesATP1A3About this report →
- Joubert Syndrome And Related DisordersReads 1 of these genesAHI1About this report →
- Retinitis PigmentosaReads 1 of these genesFLVCR1About this report →
Lesen Sie die Gene aus, die mit Thin corpus callosum zusammenhängen, und den Rest Ihres Genoms, mit einem einzigen Test.
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Meinen Genome Test bestellen186 Gene mit Thin corpus callosum verknüpft
Veränderungen in diesen Genen verursachen seltene Erkrankungen, bei denen Thin corpus callosum auftritt. Die meisten Menschen mit diesem Merkmal haben keine dieser Erkrankungen, und ein Gen auf dieser Liste sagt nichts über das eigene Genom einer Person aus.
| Gen | Wie häufig es auftritt | Erkrankungen |
|---|---|---|
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Immer | In 1 Erkrankung |
| ADCY5adenylate cyclase 5 | Immer | In 1 Erkrankung |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Immer | In 1 Erkrankung |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Immer | In 1 Erkrankung |
| ARID2AT-rich interaction domain 2 | Immer | In 1 Erkrankung |
| ATP11AATPase phospholipid transporting 11A | Immer | In 1 Erkrankung |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Immer | In 1 Erkrankung |
| BCAS3BCAS3 microtubule associated cell migration factor | Immer | In 1 Erkrankung |
| BORCS8BLOC-1 related complex subunit 8 | Immer | In 1 Erkrankung |
| CAMLGcalcium modulating ligand | Immer | In 1 Erkrankung |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Immer | In 1 Erkrankung |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Immer | In 1 Erkrankung |
| CLCN3Cl-/H+ antiporter 3 | Immer | In 2 Erkrankungen |
| COG3component of oligomeric golgi complex 3 | Immer | In 1 Erkrankung |
| DNAJB4DnaJ heat shock protein family (Hsp40) member B4 | Immer | In 1 Erkrankung |
| DNM1dynamin 1 | Immer | In 1 Erkrankung |
| DNM1Ldynamin 1L | Immer | In 1 Erkrankung |
| DVL1dishevelled segment polarity protein 1 | Immer | In 1 Erkrankung |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Immer | In 1 Erkrankung |
| EIF4A2eukaryotic translation initiation factor 4A2 | Immer | In 1 Erkrankung |
| FDXRferredoxin reductase | Immer | In 1 Erkrankung |
| FLNAfilamin A | Immer | In 1 Erkrankung |
| FLVCR1FLVCR choline and heme transporter 1 | Immer | In 1 Erkrankung |
| FTH1ferritin heavy chain 1 | Immer | In 1 Erkrankung |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Immer | In 1 Erkrankung |
| GCSHglycine cleavage system protein H | Immer | In 1 Erkrankung |
| GET4guided entry of tail-anchored proteins factor 4 | Immer | In 1 Erkrankung |
| GOLGA2golgin A2 | Immer | In 1 Erkrankung |
| GON4Lgon-4 like | Immer | In 1 Erkrankung |
| GTF3C3general transcription factor IIIC subunit 3 | Immer | In 1 Erkrankung |
| GTPBP1GTP binding protein 1 | Immer | In 1 Erkrankung |
| GTPBP2GTP binding protein 2 | Immer | In 1 Erkrankung |
| KCNT2potassium sodium-activated channel subfamily T member 2 | Immer | In 1 Erkrankung |
| KDM6Blysine demethylase 6B | Immer | In 1 Erkrankung |
| KIF2Akinesin family member 2A | Immer | In 1 Erkrankung |
| KLHL20kelch like family member 20 | Immer | In 1 Erkrankung |
| LRRC7leucine rich repeat containing 7 | Immer | In 1 Erkrankung |
| LYRM7LYR motif containing 7 | Immer | In 1 Erkrankung |
| MAP2K2mitogen-activated protein kinase kinase 2 | Immer | In 1 Erkrankung |
| MOCS2molybdenum cofactor synthesis 2 | Immer | In 1 Erkrankung |
146 weitere Gene anzeigen
| Gen | Wie häufig es auftritt | Erkrankungen |
|---|---|---|
| MRAPmelanocortin 2 receptor accessory protein | Immer | In 1 Erkrankung |
| MSL2MSL complex subunit 2 | Immer | In 1 Erkrankung |
| NOTCH3notch receptor 3 | Immer | In 1 Erkrankung |
| NSD1nuclear receptor binding SET domain protein 1 | Immer | In 1 Erkrankung |
| NT5C25'-nucleotidase, cytosolic II | Immer | In 1 Erkrankung |
| NUDT2nudix hydrolase 2 | Immer | In 1 Erkrankung |
| OTX2orthodenticle homeobox 2 | Immer | In 1 Erkrankung |
| PLP1proteolipid protein 1 | Immer | In 1 Erkrankung |
| POLG2DNA polymerase gamma 2, accessory subunit | Immer | In 1 Erkrankung |
| POLR1ARNA polymerase I subunit A | Immer | In 1 Erkrankung |
| POLR3BRNA polymerase III subunit B | Immer | In 1 Erkrankung |
| PTBP1polypyrimidine tract binding protein 1 | Immer | In 1 Erkrankung |
| PUM1pumilio RNA binding family member 1 | Immer | In 1 Erkrankung |
| RAB11BRAB11B, member RAS oncogene family | Immer | In 1 Erkrankung |
| RAP1BRAP1B, member of RAS oncogene family | Immer | In 1 Erkrankung |
| RBSNrabenosyn, RAB effector | Immer | In 1 Erkrankung |
| RNF220ring finger protein 220 | Immer | In 1 Erkrankung |
| RNU4-2RNA, U4 small nuclear 2 | Immer | In 1 Erkrankung |
| RNU5B-1RNA, U5B small nuclear 1 | Immer | In 1 Erkrankung |
| ROBO1roundabout guidance receptor 1 | Immer | In 1 Erkrankung |
| SLC1A4solute carrier family 1 member 4 | Immer | In 1 Erkrankung |
| SNAPINSNAP associated protein | Immer | In 1 Erkrankung |
| SPG21SPG21 abhydrolase domain containing, maspardin | Immer | In 1 Erkrankung |
| SPOUT1SPOUT domain containing methyltransferase 1 | Immer | In 1 Erkrankung |
| SV2Asynaptic vesicle glycoprotein 2A | Immer | In 1 Erkrankung |
| TBCKTBC1 domain containing kinase | Immer | In 1 Erkrankung |
| TEFMtranscription elongation factor, mitochondrial | Immer | In 1 Erkrankung |
| TMEM63Btransmembrane protein 63B | Immer | In 1 Erkrankung |
| DOHHdeoxyhypusine hydroxylase | Sehr häufig (80–99 %) | In 1 Erkrankung |
| HID1HID1 domain containing | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PGBD5piggyBac transposable element derived 5 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PLAAphospholipase A2 activating protein | Sehr häufig (80–99 %) | In 1 Erkrankung |
| AHDC1AT-hook DNA binding motif containing 1 | Häufig (30–79 %) | In 1 Erkrankung |
| AHI1Abelson helper integration site 1 | Häufig (30–79 %) | In 1 Erkrankung |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Häufig (30–79 %) | In 1 Erkrankung |
| AMFRautocrine motility factor receptor | Häufig (30–79 %) | In 1 Erkrankung |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Häufig (30–79 %) | In 1 Erkrankung |
| ATP6V1AATPase H+ transporting V1 subunit A | Häufig (30–79 %) | In 1 Erkrankung |
| BRAT1BRCA1 associated ATM activator 1 | Häufig (30–79 %) | In 1 Erkrankung |
| BRF1BRF1 general transcription factor IIIB subunit | Häufig (30–79 %) | In 1 Erkrankung |
| CCDC47coiled-coil domain containing 47 | Häufig (30–79 %) | In 1 Erkrankung |
| CEP85Lcentrosomal protein 85L | Häufig (30–79 %) | In 1 Erkrankung |
| CFAP20cilia and flagella associated protein 20 | Häufig (30–79 %) | In 1 Erkrankung |
| COPB2coat protein complex I subunit beta 2 | Häufig (30–79 %) | In 1 Erkrankung |
| COQ4coenzyme Q4 | Häufig (30–79 %) | In 1 Erkrankung |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Häufig (30–79 %) | In 1 Erkrankung |
| DHRSXdehydrogenase/reductase X-linked | Häufig (30–79 %) | In 1 Erkrankung |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Häufig (30–79 %) | In 1 Erkrankung |
| ECHS1enoyl-CoA hydratase, short chain 1 | Häufig (30–79 %) | In 1 Erkrankung |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Häufig (30–79 %) | In 1 Erkrankung |
| ESAMendothelial cell adhesion molecule | Häufig (30–79 %) | In 1 Erkrankung |
| FA2Hfatty acid 2-hydroxylase | Häufig (30–79 %) | In 1 Erkrankung |
| FAAP100FA core complex associated protein 100 | Häufig (30–79 %) | In 1 Erkrankung |
| FEM1Bfem-1 homolog B | Häufig (30–79 %) | In 1 Erkrankung |
| GLULglutamate-ammonia ligase | Häufig (30–79 %) | In 1 Erkrankung |
| HHAThedgehog acyltransferase | Häufig (30–79 %) | In 1 Erkrankung |
| HIVEP2HIVEP zinc finger 2 | Häufig (30–79 %) | In 1 Erkrankung |
| IBA57iron-sulfur cluster assembly factor IBA57 | Häufig (30–79 %) | In 1 Erkrankung |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Häufig (30–79 %) | In 1 Erkrankung |
| KAT6Blysine acetyltransferase 6B | Häufig (30–79 %) | In 1 Erkrankung |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Häufig (30–79 %) | In 1 Erkrankung |
| KPNA3karyopherin subunit alpha 3 | Häufig (30–79 %) | In 1 Erkrankung |
| LMBRD2LMBR1 domain containing 2 | Häufig (30–79 %) | In 1 Erkrankung |
| MACF1microtubule actin crosslinking factor 1 | Häufig (30–79 %) | In 1 Erkrankung |
| MAST3microtubule associated serine/threonine kinase 3 | Häufig (30–79 %) | In 1 Erkrankung |
| MED23mediator complex subunit 23 | Häufig (30–79 %) | In 1 Erkrankung |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Häufig (30–79 %) | In 1 Erkrankung |
| NKX6-2NK6 homeobox 2 | Häufig (30–79 %) | In 1 Erkrankung |
| OTUD7AOTU deubiquitinase 7A | Häufig (30–79 %) | In 1 Erkrankung |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Häufig (30–79 %) | In 1 Erkrankung |
| POGZpogo transposable element derived with ZNF domain | Häufig (30–79 %) | In 1 Erkrankung |
| PRUNE1prune exopolyphosphatase 1 | Häufig (30–79 %) | In 1 Erkrankung |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Häufig (30–79 %) | In 1 Erkrankung |
| RBL2RB transcriptional corepressor like 2 | Häufig (30–79 %) | In 1 Erkrankung |
| REREarginine-glutamic acid dipeptide repeats | Häufig (30–79 %) | In 1 Erkrankung |
| RNU2-2RNA, U2 small nuclear 2 | Häufig (30–79 %) | In 1 Erkrankung |
| RPS6KC1ribosomal protein S6 kinase C1 | Häufig (30–79 %) | In 1 Erkrankung |
| SLC35B2solute carrier family 35 member B2 | Häufig (30–79 %) | In 1 Erkrankung |
| SLC4A10solute carrier family 4 member 10 | Häufig (30–79 %) | In 1 Erkrankung |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Häufig (30–79 %) | In 1 Erkrankung |
| TBCBtubulin folding cofactor B | Häufig (30–79 %) | In 1 Erkrankung |
| TIAM1TIAM Rac1 associated GEF 1 | Häufig (30–79 %) | In 1 Erkrankung |
| TMEM147transmembrane protein 147 | Häufig (30–79 %) | In 1 Erkrankung |
| TRA2Btransformer 2 beta homolog | Häufig (30–79 %) | In 1 Erkrankung |
| TSEN15tRNA splicing endonuclease subunit 15 | Häufig (30–79 %) | In 1 Erkrankung |
| TUBBtubulin beta class I | Häufig (30–79 %) | In 1 Erkrankung |
| TUBB3tubulin beta 3 class III | Häufig (30–79 %) | In 1 Erkrankung |
| TUBG1tubulin gamma 1 | Häufig (30–79 %) | In 1 Erkrankung |
| UBE3Cubiquitin protein ligase E3C | Häufig (30–79 %) | In 1 Erkrankung |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Häufig (30–79 %) | In 1 Erkrankung |
| UNC13Aunc-13 homolog A | Häufig (30–79 %) | In 2 Erkrankungen |
| VPS4Avacuolar protein sorting 4 homolog A | Häufig (30–79 %) | In 1 Erkrankung |
| WWOXWW domain containing oxidoreductase | Häufig (30–79 %) | In 1 Erkrankung |
| ZNF526zinc finger protein 526 | Häufig (30–79 %) | In 1 Erkrankung |
| AFG2AAAA ATPase AFG2A | Manchmal (5–29 %) | In 1 Erkrankung |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| CDK10cyclin dependent kinase 10 | Manchmal (5–29 %) | In 1 Erkrankung |
| CHD3chromodomain helicase DNA binding protein 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| CHKAcholine kinase alpha | Manchmal (5–29 %) | In 1 Erkrankung |
| CLTCclathrin heavy chain | Manchmal (5–29 %) | In 1 Erkrankung |
| CNTNAP2contactin associated protein 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Manchmal (5–29 %) | In 1 Erkrankung |
| DIAPH1diaphanous related formin 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| EXOSC3exosome component 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| EXOSC8exosome component 8 | Manchmal (5–29 %) | In 1 Erkrankung |
| EXOSC9exosome component 9 | Manchmal (5–29 %) | In 1 Erkrankung |
| FBXL4F-box and leucine rich repeat protein 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| FBXO28F-box protein 28 | Manchmal (5–29 %) | In 1 Erkrankung |
| FRYLFRY like transcription coactivator | Manchmal (5–29 %) | In 1 Erkrankung |
| GFM1G elongation factor mitochondrial 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| GLB1galactosidase beta 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| GLI2GLI family zinc finger 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Manchmal (5–29 %) | In 1 Erkrankung |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| H1-4H1.4 linker histone, cluster member | Manchmal (5–29 %) | In 1 Erkrankung |
| HDAC4histone deacetylase 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| KDM2Blysine demethylase 2B | Manchmal (5–29 %) | In 1 Erkrankung |
| LGI1leucine rich glioma inactivated 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| LIG3DNA ligase 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| MAN2C1mannosidase alpha class 2C member 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| MAU2MAU2 sister chromatid cohesion factor | Manchmal (5–29 %) | In 1 Erkrankung |
| MED16mediator complex subunit 16 | Manchmal (5–29 %) | In 1 Erkrankung |
| MED27mediator complex subunit 27 | Manchmal (5–29 %) | In 1 Erkrankung |
| MYT1Lmyelin transcription factor 1 like | Manchmal (5–29 %) | In 1 Erkrankung |
| NAXDNAD(P)HX dehydratase | Manchmal (5–29 %) | In 1 Erkrankung |
| NFIBnuclear factor I B | Manchmal (5–29 %) | In 1 Erkrankung |
| NRCAMneuronal cell adhesion molecule | Manchmal (5–29 %) | In 1 Erkrankung |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| POLRMTRNA polymerase mitochondrial | Manchmal (5–29 %) | In 1 Erkrankung |
| SLC25A46solute carrier family 25 member 46 | Manchmal (5–29 %) | In 1 Erkrankung |
| SLC32A1solute carrier family 32 member 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| SLITRK2SLIT and NTRK like family member 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Manchmal (5–29 %) | In 1 Erkrankung |
| SYNJ1synaptojanin 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| SYT2synaptotagmin 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| TNRtenascin R | Manchmal (5–29 %) | In 1 Erkrankung |
| VRK1VRK serine/threonine kinase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| WDR26WD repeat domain 26 | Manchmal (5–29 %) | In 1 Erkrankung |
| WSB2WD repeat and SOCS box containing 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| CTCFCCCTC-binding factor | Selten (1–4 %) | In 1 Erkrankung |
| H3-3AH3.3 histone A | Selten (1–4 %) | In 1 Erkrankung |
| PI4KAphosphatidylinositol 4-kinase alpha | Nicht erfasst | In 1 Erkrankung |
Wie häufig dieses Merkmal bei Menschen mit einer der Erkrankungen auftritt, die mit dem Gen in Verbindung stehen, und zwar der höchste Wert unter ihnen, so wie ihn die Human Phenotype Ontology erfasst. Diese Seiten beschreiben Merkmale und die dazugehörige Forschung; sie stellen keine Diagnose dar. Fragen zu Symptomen richten Sie bitte an Ihre Ärztin, Ihren Arzt oder eine genetische Beratung.
Untergeordnete Merkmale
Übergeordnete Merkmale
Woher diese Angaben stammen
- Die Human Phenotype Ontology, Version 2026-09-01: das Merkmal, seine Bezeichnungen, seine Definition und die damit verknüpften Gene. Weitere Informationen finden Sie unter hpo.jax.org.
- Datenstand 2026.10.19-9814e911.
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