Trait
Abnormal shape of brainstem
Clinical name: Abnormal brainstem morphology
An anomaly of the brainstem.
Summary
- Also called
- Abnormality of brainstem morphology, Abnormality of the brainstem
- 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 brainstem, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test52 genes linked to Abnormal shape of brainstem
Changes in these genes cause rare conditions in which Abnormal shape of brainstem 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 |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Always | In 1 condition |
| SCO2synthesis of cytochrome C oxidase 2 | Always | In 1 condition |
| NAGAalpha-N-acetylgalactosaminidase | Very often (80–99%) | In 1 condition |
| TUBA1Atubulin alpha 1a | Very often (80–99%) | In 1 condition |
| TUBB2Btubulin beta 2B class IIb | Very often (80–99%) | In 2 conditions |
| TUBB3tubulin beta 3 class III | Very often (80–99%) | In 1 condition |
| ANGPTL6angiopoietin like 6 | Often (30–79%) | In 1 condition |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Often (30–79%) | In 1 condition |
| CDONcell adhesion associated, oncogene regulated | Often (30–79%) | In 4 conditions |
| CHD2chromodomain helicase DNA binding protein 2 | Often (30–79%) | In 1 condition |
| COL3A1collagen type III alpha 1 chain | Often (30–79%) | In 1 condition |
| CRIPTOcripto, EGF-CFC family member | Often (30–79%) | In 4 conditions |
| CUX2cut like homeobox 2 | Often (30–79%) | In 1 condition |
| DAG1dystroglycan 1 | Often (30–79%) | In 1 condition |
| DISP1dispatched RND transporter family member 1 | Often (30–79%) | In 4 conditions |
| DLL1delta like canonical Notch ligand 1 | Often (30–79%) | In 4 conditions |
| DNM1dynamin 1 | Often (30–79%) | In 1 condition |
| ENGendoglin | Often (30–79%) | In 1 condition |
| FGF8fibroblast growth factor 8 | Often (30–79%) | In 4 conditions |
| FGFR1fibroblast growth factor receptor 1 | Often (30–79%) | In 2 conditions |
| FKRPfukutin related protein | Often (30–79%) | In 1 condition |
| FOXH1forkhead box H1 | Often (30–79%) | In 4 conditions |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Often (30–79%) | In 1 condition |
| GAS1growth arrest specific 1 | Often (30–79%) | In 4 conditions |
| GLI2GLI family zinc finger 2 | Often (30–79%) | In 4 conditions |
| GMPPBGDP-mannose pyrophosphorylase B | Often (30–79%) | In 1 condition |
| LAMA1laminin subunit alpha 1 | Often (30–79%) | In 1 condition |
| MAPK10mitogen-activated protein kinase 10 | Often (30–79%) | In 1 condition |
| NODALnodal growth differentiation factor | Often (30–79%) | In 4 conditions |
| PLCH1phospholipase C eta 1 | Often (30–79%) | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Often (30–79%) | In 1 condition |
| POMKprotein O-mannose kinase | Often (30–79%) | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Often (30–79%) | In 1 condition |
| POMT2protein O-mannosyltransferase 2 | Often (30–79%) | In 1 condition |
| PTCH1patched 1 | Often (30–79%) | In 4 conditions |
| RANBP2RAN binding protein 2 | Often (30–79%) | In 1 condition |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Often (30–79%) | In 1 condition |
| SHHsonic hedgehog signaling molecule | Often (30–79%) | In 4 conditions |
| SIX3SIX homeobox 3 | Often (30–79%) | In 4 conditions |
| SMC1Astructural maintenance of chromosomes 1A | Often (30–79%) | In 1 condition |
Show 12 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| STAG2STAG2 cohesin complex component | Often (30–79%) | In 2 conditions |
| STILSTIL centriolar assembly protein | Often (30–79%) | In 4 conditions |
| TGFBR3transforming growth factor beta receptor 3 | Often (30–79%) | In 1 condition |
| TGIF1TGFB induced factor homeobox 1 | Often (30–79%) | In 4 conditions |
| THSD1thrombospondin type 1 domain containing 1 | Often (30–79%) | In 1 condition |
| ZIC2Zic family zinc finger 2 | Often (30–79%) | In 4 conditions |
| ATXN1ataxin 1 | Sometimes (5–29%) | In 1 condition |
| CILK1ciliogenesis associated kinase 1 | Sometimes (5–29%) | In 1 condition |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Sometimes (5–29%) | In 1 condition |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Sometimes (5–29%) | In 1 condition |
| FMR1fragile X messenger ribonucleoprotein 1 | Sometimes (5–29%) | In 1 condition |
| PDHXpyruvate dehydrogenase complex component X | 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.
Narrower traits
- Atrophy/Degeneration affecting the brainstem38 genes
- Brain stem compression14 genes
- Abnormal pons morphology10 genes
- Abnormal brainstem MRI signal intensity9 genes
- Kinked brainstem6 genes
- Brainstem dysplasia4 genes
- Abnormal medulla oblongata morphology3 genes
- Abnormal brainstem white matter morphology1 gene
- Enlarged tectum1 gene
- Midline brainstem cleft1 gene
- Absent/small brainstem
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.
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks