Trait
Progressively abnormally enlarging cranium
Clinical name: Progressive macrocephaly
The progressive development of an abnormally large skull.
Summary
- Also called
- Progressively abnormally enlarging skull, Macrocephaly, progressive
Reference genomeGRCh38hg38
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Get my Genome Test6 genes linked to Progressively abnormally enlarging cranium
Changes in these genes cause rare conditions in which Progressively abnormally enlarging 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 |
|---|---|---|
| GCDHglutaryl-CoA dehydrogenase | Often (30–79%) | In 1 condition |
| GFAPglial fibrillary acidic protein | Often (30–79%) | In 2 conditions |
| HEXBhexosaminidase subunit beta | Often (30–79%) | In 1 condition |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Not recorded | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Not recorded | In 2 conditions |
| PTENphosphatase and tensin homolog | 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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