Trait
Abnormal shape of brain
Clinical name: Abnormal brain morphology
A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.
Summary
- Also called
- Abnormality of the brain, Abnormality of brain morphology
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
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Get my Genome Test39 genes linked to Abnormal shape of brain
Changes in these genes cause rare conditions in which Abnormal shape of brain 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 |
|---|---|---|
| MBTPS2membrane bound transcription factor peptidase, site 2 | Very often (80–99%) | In 1 condition |
| SONSON DNA and RNA binding protein | Very often (80–99%) | In 1 condition |
| TBK1TANK binding kinase 1 | Very often (80–99%) | In 1 condition |
| TICAM1TIR domain containing adaptor molecule 1 | Very often (80–99%) | In 1 condition |
| TLR3toll like receptor 3 | Very often (80–99%) | In 1 condition |
| TRAF3TNF receptor associated factor 3 | Very often (80–99%) | In 1 condition |
| TRAPPC9trafficking protein particle complex subunit 9 | Very often (80–99%) | In 1 condition |
| UNC93B1unc-93B1 regulator of TLR signaling | Very often (80–99%) | In 1 condition |
| WACWW domain containing adaptor with coiled-coil | Very often (80–99%) | In 1 condition |
| ADAT3adenosine deaminase tRNA specific 3 | Often (30–79%) | In 1 condition |
| ADNPactivity dependent neuroprotector homeobox | Often (30–79%) | In 1 condition |
| AFG2AAAA ATPase AFG2A | Often (30–79%) | In 1 condition |
| AHDC1AT-hook DNA binding motif containing 1 | Often (30–79%) | In 1 condition |
| CNOT1CCR4-NOT transcription complex subunit 1 | Often (30–79%) | In 1 condition |
| CPT2carnitine palmitoyltransferase 2 | Often (30–79%) | In 1 condition |
| DLL1delta like canonical Notch ligand 1 | Often (30–79%) | In 1 condition |
| FBXW7F-box and WD repeat domain containing 7 | Often (30–79%) | In 1 condition |
| FKRPfukutin related protein | Often (30–79%) | In 1 condition |
| GMPPBGDP-mannose pyrophosphorylase B | Often (30–79%) | In 1 condition |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Often (30–79%) | In 1 condition |
| LONP1lon peptidase 1, mitochondrial | Often (30–79%) | In 1 condition |
| MAN1B1mannosidase alpha class 1B member 1 | Often (30–79%) | In 1 condition |
| MTHFRmethylenetetrahydrofolate reductase | Often (30–79%) | In 1 condition |
| PACS1phosphofurin acidic cluster sorting protein 1 | Often (30–79%) | In 1 condition |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 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 |
| PRMT7protein arginine methyltransferase 7 | Often (30–79%) | In 1 condition |
| SOX5SRY-box transcription factor 5 | Often (30–79%) | In 1 condition |
| SPARTspartin | Often (30–79%) | In 1 condition |
| SRD5A3steroid 5 alpha-reductase 3 | Often (30–79%) | In 1 condition |
| THOC6THO complex subunit 6 | Often (30–79%) | In 1 condition |
| VANGL2VANGL planar cell polarity protein 2 | Often (30–79%) | In 1 condition |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Sometimes (5–29%) | In 1 condition |
| AUTS2activator of transcription and developmental regulator AUTS2 | Sometimes (5–29%) | In 1 condition |
| MID1midline 1 | Sometimes (5–29%) | In 1 condition |
| MMACHCmetabolism of cobalamin associated C | 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
- Brain degeneration202 genes
- Holoprosencephaly59 genes
- Abnormal shape of brainstem52 genes
- Abnormality of the cerebral blood vessels51 genes
- Abnormal shape of midbrain18 genes
- Brain neoplasm14 genes
- Iron accumulation in brain9 genes
- Abnormal pituitary gland morphology4 genes
- Kernicterus2 genes
- Abnormal cerebral ventricle morphology
- Abnormal pineal morphology
- Abnormal shape of forebrain
- Abnormal shape of hindbrain
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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