Egenskap
Development of small head that was not present at birth
Klinisk navn: Secondary microcephaly
Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.
Sammendrag
- Også kalt
- Acquired microcephaly, Deceleration of head growth, Microcephaly, acquired, Microcephaly, postnatal, Postnatal deceleration of head circumference, Postnatal microcephaly
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Få mitt Genome Test155 gener knyttet til Development of small head that was not present at birth
Endringer i disse genene forårsaker sjeldne tilstander der Development of small head that was not present at birth forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ADAM22ADAM metallopeptidase domain 22 | Alltid | I 1 tilstand |
| AMPD2adenosine monophosphate deaminase 2 | Alltid | I 1 tilstand |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Alltid | I 1 tilstand |
| ASPNATaspartate N-acetyltransferase | Alltid | I 1 tilstand |
| ATP5POATP synthase peripheral stalk subunit OSCP | Alltid | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Alltid | I 1 tilstand |
| BRAT1BRCA1 associated ATM activator 1 | Alltid | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Alltid | I 1 tilstand |
| CDK4cyclin dependent kinase 4 | Alltid | I 1 tilstand |
| COG2component of oligomeric golgi complex 2 | Alltid | I 2 tilstander |
| COG8component of oligomeric golgi complex 8 | Alltid | I 1 tilstand |
| DNM1dynamin 1 | Alltid | I 1 tilstand |
| DNM1Ldynamin 1L | Alltid | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Alltid | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Alltid | I 1 tilstand |
| FDXRferredoxin reductase | Alltid | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Alltid | I 1 tilstand |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Alltid | I 1 tilstand |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Alltid | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Alltid | I 1 tilstand |
| GCSHglycine cleavage system protein H | Alltid | I 1 tilstand |
| GINS3GINS complex subunit 3 | Alltid | I 1 tilstand |
| GLSglutaminase | Alltid | I 1 tilstand |
| GON4Lgon-4 like | Alltid | I 1 tilstand |
| GPT2glutamic--pyruvic transaminase 2 | Alltid | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Alltid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Alltid | I 1 tilstand |
| HSPD1heat shock protein family D (Hsp60) member 1 | Alltid | I 1 tilstand |
| IARS1isoleucyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alltid | I 1 tilstand |
| JAM3junctional adhesion molecule 3 | Alltid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KIF5Ckinesin family member 5C | Alltid | I 1 tilstand |
| MED17mediator complex subunit 17 | Alltid | I 1 tilstand |
| MFFmitochondrial fission factor | Alltid | I 2 tilstander |
| MOCS3molybdenum cofactor synthesis 3 | Alltid | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alltid | I 1 tilstand |
| PTRH2peptidyl-tRNA hydrolase 2 | Alltid | I 2 tilstander |
| PYCR2pyrroline-5-carboxylate reductase 2 | Alltid | I 1 tilstand |
Vis 115 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| RAB18RAB18, member RAS oncogene family | Alltid | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Alltid | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Alltid | I 1 tilstand |
| RFC4replication factor C subunit 4 | Alltid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| RNU6ATACRNA, U6atac small nuclear | Alltid | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Alltid | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Alltid | I 1 tilstand |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Alltid | I 1 tilstand |
| TAF2TATA-box binding protein associated factor 2 | Alltid | I 2 tilstander |
| TBC1D20TBC1 domain family member 20 | Alltid | I 1 tilstand |
| TBCDtubulin folding cofactor D | Alltid | I 2 tilstander |
| TCF4transcription factor 4 | Alltid | I 1 tilstand |
| TM2D3TM2 domain containing 3 | Alltid | I 1 tilstand |
| TMEM165transmembrane protein 165 | Alltid | I 1 tilstand |
| TOMM7translocase of outer mitochondrial membrane 7 | Alltid | I 1 tilstand |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Alltid | I 1 tilstand |
| TRAPPC9trafficking protein particle complex subunit 9 | Alltid | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Alltid | I 4 tilstander |
| VPS53VPS53 subunit of GARP complex | Alltid | I 1 tilstand |
| WARS1tryptophanyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| BCKDKbranched chain keto acid dehydrogenase kinase | Svært ofte (80–99 %) | I 1 tilstand |
| C2orf69chromosome 2 open reading frame 69 | Svært ofte (80–99 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Svært ofte (80–99 %) | I 2 tilstander |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| FRA10AC1FRA10A associated CGG repeat 1 | Svært ofte (80–99 %) | I 1 tilstand |
| HIKESHIheat shock protein nuclear import factor hikeshi | Svært ofte (80–99 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Svært ofte (80–99 %) | I 1 tilstand |
| PLPBPpyridoxal phosphate binding protein | Svært ofte (80–99 %) | I 1 tilstand |
| SLC18A2solute carrier family 18 member A2 | Svært ofte (80–99 %) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Svært ofte (80–99 %) | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Svært ofte (80–99 %) | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ACTG1actin gamma 1 | Ofte (30–79 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| ATP9AATPase phospholipid transporting 9A | Ofte (30–79 %) | I 1 tilstand |
| BNIP1BCL2 interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Ofte (30–79 %) | I 1 tilstand |
| CERT1ceramide transporter 1 | Ofte (30–79 %) | I 1 tilstand |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Ofte (30–79 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Ofte (30–79 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
| CTNNA2catenin alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Ofte (30–79 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| EXOC2exocyst complex component 2 | Ofte (30–79 %) | I 1 tilstand |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Ofte (30–79 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Ofte (30–79 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Ofte (30–79 %) | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Ofte (30–79 %) | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Ofte (30–79 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ofte (30–79 %) | I 2 tilstander |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Ofte (30–79 %) | I 1 tilstand |
| NACC1nucleus accumbens associated 1 | Ofte (30–79 %) | I 1 tilstand |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Ofte (30–79 %) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Ofte (30–79 %) | I 1 tilstand |
| NTNG1netrin G1 | Ofte (30–79 %) | I 1 tilstand |
| PMPCBpeptidase, mitochondrial processing subunit beta | Ofte (30–79 %) | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC1A4solute carrier family 1 member 4 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A12solute carrier family 25 member 12 | Ofte (30–79 %) | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Ofte (30–79 %) | I 1 tilstand |
| SLC9A6solute carrier family 9 member A6 | Ofte (30–79 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Ofte (30–79 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Ofte (30–79 %) | I 1 tilstand |
| UBTFupstream binding transcription factor | Ofte (30–79 %) | I 1 tilstand |
| UNC13Aunc-13 homolog A | Ofte (30–79 %) | I 1 tilstand |
| VPS50VPS50 subunit of EARP/GARPII complex | Ofte (30–79 %) | I 1 tilstand |
| WDR37WD repeat domain 37 | Ofte (30–79 %) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Ofte (30–79 %) | I 1 tilstand |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Ofte (30–79 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Ofte (30–79 %) | I 2 tilstander |
| CHMP1Acharged multivesicular body protein 1A | Noen ganger (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Noen ganger (5–29 %) | I 1 tilstand |
| COG6component of oligomeric golgi complex 6 | Noen ganger (5–29 %) | I 1 tilstand |
| CRLS1cardiolipin synthase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DCXdoublecortin | Noen ganger (5–29 %) | I 1 tilstand |
| DEGS1delta 4-desaturase, sphingolipid 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DOLKdolichol kinase | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Noen ganger (5–29 %) | I 1 tilstand |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MED16mediator complex subunit 16 | Noen ganger (5–29 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Noen ganger (5–29 %) | I 1 tilstand |
| PRORPprotein only RNase P catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SRSF1serine and arginine rich splicing factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TRAPPC12trafficking protein particle complex subunit 12 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Noen ganger (5–29 %) | I 1 tilstand |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| COQ9coenzyme Q9 | Ikke registrert | I 1 tilstand |
| DHFRdihydrofolate reductase | Ikke registrert | I 1 tilstand |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Ikke registrert | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Ikke registrert | I 1 tilstand |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Ikke registrert | I 1 tilstand |
| PLEKHG2pleckstrin homology and RhoGEF domain containing G2 | Ikke registrert | I 1 tilstand |
| PPT1palmitoyl-protein thioesterase 1 | Ikke registrert | I 1 tilstand |
| PSAT1phosphoserine aminotransferase 1 | Ikke registrert | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ikke registrert | I 1 tilstand |
| RUSC2RUN and SH3 domain containing 2 | Ikke registrert | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ikke registrert | I 1 tilstand |
| SLC12A5solute carrier family 12 member 5 | Ikke registrert | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Ikke registrert | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Ikke registrert | I 1 tilstand |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Ikke registrert | I 1 tilstand |
| WDR73WD repeat domain 73 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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Fra 449 $Gratis frakt · Resultater på 6–8 uker