Trait
Progressively abnormally small cranium
Clinical name: Progressive microcephaly
Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.
Summary
- Also called
- Progressively abnormally small skull, Microcephaly, postnatal, progressive, Microcephaly, progressive
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Progressively abnormally small cranium, and the rest of your genome, with one test.
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Get my Genome Test94 genes linked to Progressively abnormally small cranium
Changes in these genes cause rare conditions in which Progressively abnormally small cranium is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ACBD5acyl-CoA binding domain containing 5 | Always | In 1 condition |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Always | In 2 conditions |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Always | In 1 condition |
| CDC42cell division cycle 42 | Always | In 1 condition |
| COG7component of oligomeric golgi complex 7 | Always | In 2 conditions |
| FOXG1forkhead box G1 | Always | In 1 condition |
| GOLGA2golgin A2 | Always | In 1 condition |
| GOT2glutamic-oxaloacetic transaminase 2 | Always | In 1 condition |
| GTPBP2GTP binding protein 2 | Always | In 1 condition |
| NAPBNSF attachment protein beta | Always | In 1 condition |
| PCDH12protocadherin 12 | Always | In 1 condition |
| PLAAphospholipase A2 activating protein | Always | In 1 condition |
| QARS1glutaminyl-tRNA synthetase 1 | Always | In 1 condition |
| RNF113Aring finger protein 113A | Always | In 1 condition |
| SNAP29synaptosome associated protein 29 | Always | In 1 condition |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Always | In 1 condition |
| STAMBPSTAM binding protein | Always | In 1 condition |
| TM2D3TM2 domain containing 3 | Always | In 1 condition |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Always | In 1 condition |
| TSEN15tRNA splicing endonuclease subunit 15 | Always | In 2 conditions |
| TSEN2tRNA splicing endonuclease subunit 2 | Always | In 2 conditions |
| TSEN54tRNA splicing endonuclease subunit 54 | Always | In 2 conditions |
| TUBGCP2tubulin gamma complex component 2 | Always | In 1 condition |
| VARS1valyl-tRNA synthetase 1 | Always | In 1 condition |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Very often (80–99%) | In 3 conditions |
| ATP6V1AATPase H+ transporting V1 subunit A | Very often (80–99%) | In 1 condition |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Very often (80–99%) | In 1 condition |
| BCKDKbranched chain keto acid dehydrogenase kinase | Very often (80–99%) | In 1 condition |
| CASKcalcium/calmodulin dependent serine protein kinase | Very often (80–99%) | In 2 conditions |
| CDC45cell division cycle 45 | Very often (80–99%) | In 1 condition |
| DIAPH1diaphanous related formin 1 | Very often (80–99%) | In 1 condition |
| MECP2methyl-CpG binding protein 2 | Very often (80–99%) | In 2 conditions |
| PYCR2pyrroline-5-carboxylate reductase 2 | Very often (80–99%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Very often (80–99%) | In 1 condition |
| SLC2A1solute carrier family 2 member 1 | Very often (80–99%) | In 1 condition |
| SMPD4sphingomyelin phosphodiesterase 4 | Very often (80–99%) | In 1 condition |
| TOE1target of EGR1, exonuclease | Very often (80–99%) | In 1 condition |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Often (30–79%) | In 1 condition |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Often (30–79%) | In 1 condition |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Often (30–79%) | In 1 condition |
Show 54 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Often (30–79%) | In 1 condition |
| EMC1ER membrane protein complex subunit 1 | Often (30–79%) | In 1 condition |
| EXOSC3exosome component 3 | Often (30–79%) | In 2 conditions |
| EXOSC8exosome component 8 | Often (30–79%) | In 1 condition |
| EXOSC9exosome component 9 | Often (30–79%) | In 1 condition |
| FAR1fatty acyl-CoA reductase 1 | Often (30–79%) | In 1 condition |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Often (30–79%) | In 1 condition |
| LAMB2laminin subunit beta 2 | Often (30–79%) | In 1 condition |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Often (30–79%) | In 1 condition |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Often (30–79%) | In 1 condition |
| PUS3pseudouridine synthase 3 | Often (30–79%) | In 1 condition |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Often (30–79%) | In 2 conditions |
| SLC25A46solute carrier family 25 member 46 | Often (30–79%) | In 1 condition |
| SLC39A14solute carrier family 39 member 14 | Often (30–79%) | In 1 condition |
| TSEN34tRNA splicing endonuclease subunit 34 | Often (30–79%) | In 1 condition |
| VRK1VRK serine/threonine kinase 1 | Often (30–79%) | In 1 condition |
| ZSWIM6zinc finger SWIM-type containing 6 | Often (30–79%) | In 1 condition |
| CC2D1Acoiled-coil and C2 domain containing 1A | Sometimes (5–29%) | In 1 condition |
| COG1component of oligomeric golgi complex 1 | Sometimes (5–29%) | In 2 conditions |
| COG8component of oligomeric golgi complex 8 | Sometimes (5–29%) | In 1 condition |
| DOLKdolichol kinase | Sometimes (5–29%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sometimes (5–29%) | In 1 condition |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sometimes (5–29%) | In 1 condition |
| EXTL3exostosin like glycosyltransferase 3 | Sometimes (5–29%) | In 1 condition |
| GLYCTKglycerate kinase | Sometimes (5–29%) | In 1 condition |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Sometimes (5–29%) | In 1 condition |
| ISCA1iron-sulfur cluster assembly 1 | Sometimes (5–29%) | In 1 condition |
| LGI3leucine rich repeat LGI family member 3 | Sometimes (5–29%) | In 1 condition |
| MPC1mitochondrial pyruvate carrier 1 | Sometimes (5–29%) | In 1 condition |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Rarely (1–4%) | In 1 condition |
| ACO2aconitase 2 | Not recorded | In 1 condition |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Not recorded | In 1 condition |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Not recorded | In 1 condition |
| BRAT1BRCA1 associated ATM activator 1 | Not recorded | In 1 condition |
| CDKL5cyclin dependent kinase like 5 | Not recorded | In 1 condition |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Not recorded | In 1 condition |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Not recorded | In 1 condition |
| MDH1malate dehydrogenase 1 | Not recorded | In 1 condition |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Not recorded | In 1 condition |
| PCLOpiccolo presynaptic cytomatrix protein | Not recorded | In 1 condition |
| PNKPpolynucleotide kinase 3'-phosphatase | Not recorded | In 1 condition |
| PNPOpyridoxamine 5'-phosphate oxidase | Not recorded | In 1 condition |
| POMKprotein O-mannose kinase | Not recorded | In 1 condition |
| PPT1palmitoyl-protein thioesterase 1 | Not recorded | In 1 condition |
| PTRH2peptidyl-tRNA hydrolase 2 | Not recorded | In 1 condition |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| RNASEH2Aribonuclease H2 subunit A | Not recorded | In 1 condition |
| RNASEH2Cribonuclease H2 subunit C | Not recorded | In 1 condition |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Not recorded | In 1 condition |
| SLC1A4solute carrier family 1 member 4 | Not recorded | In 1 condition |
| TREX1three prime repair exonuclease 1 | Not recorded | In 1 condition |
| VPS53VPS53 subunit of GARP complex | Not recorded | In 1 condition |
| WWOXWW domain containing oxidoreductase | Not recorded | In 1 condition |
| ZNHIT3zinc finger HIT-type containing 3 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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