Trait
Mild microcephaly
Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD).
Summary
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test19 genes linked to Mild microcephaly
Changes in these genes cause rare conditions in which Mild microcephaly 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 |
|---|---|---|
| CWF19L1CWF19 like cell cycle control factor 1 | Always | In 2 conditions |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Always | In 1 condition |
| THOC6THO complex subunit 6 | Very often (80–99%) | In 1 condition |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Often (30–79%) | In 1 condition |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Often (30–79%) | In 1 condition |
| RIC1RIC1 partner of RAB6A GEF complex | Often (30–79%) | In 1 condition |
| TRAPPC9trafficking protein particle complex subunit 9 | Often (30–79%) | In 1 condition |
| UBE3Aubiquitin protein ligase E3A | Often (30–79%) | In 2 conditions |
| ASPAaspartoacylase | Sometimes (5–29%) | In 1 condition |
| CEP85Lcentrosomal protein 85L | Sometimes (5–29%) | In 1 condition |
| COG6component of oligomeric golgi complex 6 | Sometimes (5–29%) | In 1 condition |
| DHRS3dehydrogenase/reductase 3 | Sometimes (5–29%) | In 1 condition |
| LEF1lymphoid enhancer binding factor 1 | Sometimes (5–29%) | In 1 condition |
| OCA2OCA2 melanosomal transmembrane protein | Sometimes (5–29%) | In 1 condition |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Sometimes (5–29%) | In 1 condition |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Sometimes (5–29%) | In 1 condition |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Sometimes (5–29%) | In 1 condition |
| SDHDsuccinate dehydrogenase complex subunit D | Sometimes (5–29%) | In 1 condition |
| GATA6GATA binding protein 6 | Rarely (1–4%) | 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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