Trait
Arrhinencephaly
A defect of development of the brain characterized by congenital absence of the part of the brain that includes the olfactory bulbs, tracts, and other structures associated with the sense of smell.
Summary
- Also called
- Arhinencephaly
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
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Get my Genome Test35 genes linked to Arrhinencephaly
Changes in these genes cause rare conditions in which Arrhinencephaly 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 |
|---|---|---|
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 1 condition |
| ADARadenosine deaminase RNA specific | Very often (80–99%) | In 1 condition |
| IFIH1interferon induced with helicase C domain 1 | Very often (80–99%) | In 1 condition |
| LSM11LSM11, U7 small nuclear RNA associated | Very often (80–99%) | In 1 condition |
| RNASEH2Aribonuclease H2 subunit A | Very often (80–99%) | In 1 condition |
| RNASEH2Bribonuclease H2 subunit B | Very often (80–99%) | In 1 condition |
| RNASEH2Cribonuclease H2 subunit C | Very often (80–99%) | In 1 condition |
| RNU7-1RNA, U7 small nuclear 1 | Very often (80–99%) | In 1 condition |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Very often (80–99%) | In 1 condition |
| TREX1three prime repair exonuclease 1 | Very often (80–99%) | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Often (30–79%) | In 2 conditions |
| KIF14kinesin family member 14 | Often (30–79%) | In 2 conditions |
| SF3B4splicing factor 3b subunit 4 | Often (30–79%) | In 1 condition |
| VAC14VAC14 component of PIKFYVE complex | Often (30–79%) | In 1 condition |
| ARVCFARVCF delta catenin family member | Sometimes (5–29%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Sometimes (5–29%) | In 1 condition |
| COMTcatechol-O-methyltransferase | Sometimes (5–29%) | In 1 condition |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| FANCBFA complementation group B | Sometimes (5–29%) | In 1 condition |
| FUZfuzzy planar cell polarity protein | Sometimes (5–29%) | In 1 condition |
| GP1BBglycoprotein Ib platelet subunit beta | Sometimes (5–29%) | In 1 condition |
| HIRAhistone cell cycle regulator | Sometimes (5–29%) | In 1 condition |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Sometimes (5–29%) | In 2 conditions |
| JMJD1Cjumonji domain containing 1C | Sometimes (5–29%) | In 1 condition |
| KIF7kinesin family member 7 | Sometimes (5–29%) | In 1 condition |
| RREB1ras responsive element binding protein 1 | Sometimes (5–29%) | In 1 condition |
| SEC24CSEC24 homolog C, COPII component | Sometimes (5–29%) | In 1 condition |
| SMOC1SPARC related modular calcium binding 1 | Sometimes (5–29%) | In 1 condition |
| TBX1T-box transcription factor 1 | Sometimes (5–29%) | In 1 condition |
| TCTN3tectonic family member 3 | Sometimes (5–29%) | In 1 condition |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Sometimes (5–29%) | In 1 condition |
| VANGL1VANGL planar cell polarity protein 1 | Sometimes (5–29%) | In 1 condition |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Rarely (1–4%) | In 1 condition |
| GLI3GLI family zinc finger 3 | Rarely (1–4%) | In 1 condition |
| TBC1D24TBC1 domain family member 24 | 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.
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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