Trait
Anencephaly
Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development.
Summary
- Also called
- Embryonic anencephaly, Fetal anencephaly, Foetal anencephaly
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test30 genes linked to Anencephaly
Changes in these genes cause rare conditions in which Anencephaly 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 |
|---|---|---|
| NUAK2NUAK family kinase 2 | Always | In 1 condition |
| RPGRIP1LRPGRIP1 like | Always | In 2 conditions |
| TRIM36tripartite motif containing 36 | Always | In 1 condition |
| DACT1dishevelled binding antagonist of beta catenin 1 | Very often (80–99%) | In 1 condition |
| B9D2B9 domain containing 2 | Often (30–79%) | In 2 conditions |
| KIF7kinesin family member 7 | Often (30–79%) | In 2 conditions |
| B9D1B9 domain containing 1 | Sometimes (5–29%) | In 1 condition |
| CC2D2Acoiled-coil and C2 domain containing 2A | Sometimes (5–29%) | In 2 conditions |
| CEP290centrosomal protein 290 | Sometimes (5–29%) | In 2 conditions |
| CSPP1centrosome and spindle pole associated protein 1 | Sometimes (5–29%) | In 1 condition |
| HOXD13homeobox D13 | Sometimes (5–29%) | In 1 condition |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Sometimes (5–29%) | In 2 conditions |
| KIAA0586KIAA0586 | Sometimes (5–29%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Sometimes (5–29%) | In 2 conditions |
| RPGRIP1RPGR interacting protein 1 | Sometimes (5–29%) | In 1 condition |
| TBC1D32TBC1 domain family member 32 | Sometimes (5–29%) | In 1 condition |
| TCTN1tectonic family member 1 | Sometimes (5–29%) | In 1 condition |
| TCTN2tectonic family member 2 | Sometimes (5–29%) | In 1 condition |
| TCTN3tectonic family member 3 | Sometimes (5–29%) | In 1 condition |
| TMEM107transmembrane protein 107 | Sometimes (5–29%) | In 1 condition |
| TMEM216transmembrane protein 216 | Sometimes (5–29%) | In 2 conditions |
| TMEM231transmembrane protein 231 | Sometimes (5–29%) | In 1 condition |
| TMEM237transmembrane protein 237 | Sometimes (5–29%) | In 1 condition |
| TMEM67transmembrane protein 67 | Sometimes (5–29%) | In 1 condition |
| TXNDC15thioredoxin domain containing 15 | Sometimes (5–29%) | In 1 condition |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Not recorded | In 1 condition |
| FUZfuzzy planar cell polarity protein | Not recorded | In 1 condition |
| TBXTT-box transcription factor T | Not recorded | In 1 condition |
| VANGL1VANGL planar cell polarity protein 1 | Not recorded | In 1 condition |
| VANGL2VANGL planar cell polarity protein 2 | 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.
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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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