Trait
Abnormal shape of midbrain
Clinical name: Abnormal midbrain morphology
An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct.
Summary
- Also called
- Abnormality of the midbrain, Abnormality of midbrain morphology, Abnormality of the mesencephalon
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Abnormal shape of midbrain, and the rest of your genome, with one test.
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Get my Genome Test18 genes linked to Abnormal shape of midbrain
Changes in these genes cause rare conditions in which Abnormal shape of midbrain 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 |
|---|---|---|
| CDONcell adhesion associated, oncogene regulated | Often (30–79%) | In 1 condition |
| CRIPTOcripto, EGF-CFC family member | Often (30–79%) | In 1 condition |
| DISP1dispatched RND transporter family member 1 | Often (30–79%) | In 1 condition |
| DLL1delta like canonical Notch ligand 1 | Often (30–79%) | In 1 condition |
| FGF8fibroblast growth factor 8 | Often (30–79%) | In 1 condition |
| FOXH1forkhead box H1 | Often (30–79%) | In 1 condition |
| GALCgalactosylceramidase | Often (30–79%) | In 1 condition |
| GAS1growth arrest specific 1 | Often (30–79%) | In 1 condition |
| GLI2GLI family zinc finger 2 | Often (30–79%) | In 1 condition |
| NODALnodal growth differentiation factor | Often (30–79%) | In 1 condition |
| PTCH1patched 1 | Often (30–79%) | In 1 condition |
| SHHsonic hedgehog signaling molecule | Often (30–79%) | In 1 condition |
| SIX3SIX homeobox 3 | Often (30–79%) | In 1 condition |
| STILSTIL centriolar assembly protein | Often (30–79%) | In 1 condition |
| TGIF1TGFB induced factor homeobox 1 | Often (30–79%) | In 1 condition |
| ZIC2Zic family zinc finger 2 | Often (30–79%) | In 1 condition |
| BRF1BRF1 general transcription factor IIIB subunit | Sometimes (5–29%) | In 1 condition |
| SLC35A2solute carrier family 35 member A2 | 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.
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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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