Trait
Flattening of the skull base
Clinical name: Platybasia
A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.
Summary
- Also called
- Increased basal angle of skull base, Obtuse basal angle of skull base
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Flattening of the skull base, and the rest of your genome, with one test.
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Get my Genome Test20 genes linked to Flattening of the skull base
Changes in these genes cause rare conditions in which Flattening of the skull base 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 |
|---|---|---|
| ARVCFARVCF delta catenin family member | Very often (80–99%) | In 1 condition |
| COMTcatechol-O-methyltransferase | Very often (80–99%) | In 1 condition |
| GP1BBglycoprotein Ib platelet subunit beta | Very often (80–99%) | In 1 condition |
| HIRAhistone cell cycle regulator | Very often (80–99%) | In 1 condition |
| JMJD1Cjumonji domain containing 1C | Very often (80–99%) | In 1 condition |
| RREB1ras responsive element binding protein 1 | Very often (80–99%) | In 1 condition |
| SEC24CSEC24 homolog C, COPII component | Very often (80–99%) | In 1 condition |
| TBX1T-box transcription factor 1 | Very often (80–99%) | In 1 condition |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Very often (80–99%) | In 1 condition |
| ZIC1Zic family zinc finger 1 | Very often (80–99%) | In 1 condition |
| ZIC4Zic family zinc finger 4 | Very often (80–99%) | In 1 condition |
| KDM6Blysine demethylase 6B | Often (30–79%) | In 1 condition |
| LBRlamin B receptor | Often (30–79%) | In 1 condition |
| NOTCH2notch receptor 2 | Often (30–79%) | In 1 condition |
| SIK3SIK family kinase 3 | Often (30–79%) | In 1 condition |
| SH2B1SH2B adaptor protein 1 | Sometimes (5–29%) | In 1 condition |
| COL1A1collagen type I alpha 1 chain | Not recorded | In 1 condition |
| COL1A2collagen type I alpha 2 chain | Not recorded | In 1 condition |
| FLNBfilamin B | Not recorded | In 1 condition |
| NOTCH3notch receptor 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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