Trait
Encephalocele
A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.
Summary
- Also called
- Bifid skull, Cranium bifidum
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test94 genes linked to Encephalocele
Changes in these genes cause rare conditions in which Encephalocele 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 |
|---|---|---|
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Always | In 1 condition |
| TCTN2tectonic family member 2 | Always | In 3 conditions |
| ALX4ALX homeobox 4 | Very often (80–99%) | In 3 conditions |
| B9D1B9 domain containing 1 | Very often (80–99%) | In 2 conditions |
| B9D2B9 domain containing 2 | Very often (80–99%) | In 2 conditions |
| CC2D2Acoiled-coil and C2 domain containing 2A | Very often (80–99%) | In 3 conditions |
| CEP290centrosomal protein 290 | Very often (80–99%) | In 4 conditions |
| CSPP1centrosome and spindle pole associated protein 1 | Very often (80–99%) | In 3 conditions |
| FGFR1fibroblast growth factor receptor 1 | Very often (80–99%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Very often (80–99%) | In 3 conditions |
| RPGRIP1RPGR interacting protein 1 | Very often (80–99%) | In 2 conditions |
| RPGRIP1LRPGRIP1 like | Very often (80–99%) | In 3 conditions |
| TCTN1tectonic family member 1 | Very often (80–99%) | In 2 conditions |
| TCTN3tectonic family member 3 | Very often (80–99%) | In 2 conditions |
| TMEM107transmembrane protein 107 | Very often (80–99%) | In 1 condition |
| TMEM216transmembrane protein 216 | Very often (80–99%) | In 4 conditions |
| TMEM231transmembrane protein 231 | Very often (80–99%) | In 2 conditions |
| TMEM237transmembrane protein 237 | Very often (80–99%) | In 5 conditions |
| TMEM67transmembrane protein 67 | Very often (80–99%) | In 3 conditions |
| TXNDC15thioredoxin domain containing 15 | Very often (80–99%) | In 1 condition |
| ZSWIM6zinc finger SWIM-type containing 6 | Very often (80–99%) | In 2 conditions |
| AIPL1AIP like 1 HSP90 co-chaperone | Often (30–79%) | In 1 condition |
| ALMS1ALMS1 centrosome and basal body associated protein | Often (30–79%) | In 1 condition |
| ALX3ALX homeobox 3 | Often (30–79%) | In 1 condition |
| CABP4calcium binding protein 4 | Often (30–79%) | In 1 condition |
| CRB1crumbs cell polarity complex component 1 | Often (30–79%) | In 1 condition |
| CRXcone-rod homeobox | Often (30–79%) | In 1 condition |
| GDF6growth differentiation factor 6 | Often (30–79%) | In 1 condition |
| GUCY2Dguanylate cyclase 2D, retinal | Often (30–79%) | In 1 condition |
| IFT140intraflagellar transport 140 | Often (30–79%) | In 1 condition |
| IMPDH1inosine monophosphate dehydrogenase 1 | Often (30–79%) | In 1 condition |
| IQCB1IQ motif containing B1 | Often (30–79%) | In 1 condition |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Often (30–79%) | In 1 condition |
| LCA5lebercilin LCA5 | Often (30–79%) | In 1 condition |
| LRATlecithin retinol acyltransferase | Often (30–79%) | In 1 condition |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Often (30–79%) | In 1 condition |
| OTX2orthodenticle homeobox 2 | Often (30–79%) | In 1 condition |
| PAK2p21 (RAC1) activated kinase 2 | Often (30–79%) | In 1 condition |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Often (30–79%) | In 1 condition |
| PRPH2peripherin 2 | Often (30–79%) | In 1 condition |
Show 54 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| RD3RD3 regulator of GUCY2D | Often (30–79%) | In 1 condition |
| RDH12retinol dehydrogenase 12 | Often (30–79%) | In 1 condition |
| RPE65retinoid isomerohydrolase RPE65 | Often (30–79%) | In 1 condition |
| SPATA7spermatogenesis associated 7 | Often (30–79%) | In 1 condition |
| TUBB4Btubulin beta 4B class IVb | Often (30–79%) | In 1 condition |
| TULP1TUB like protein 1 | Often (30–79%) | In 1 condition |
| USP45ubiquitin specific peptidase 45 | Often (30–79%) | In 1 condition |
| AHI1Abelson helper integration site 1 | Sometimes (5–29%) | In 2 conditions |
| ARHGAP31Rho GTPase activating protein 31 | Sometimes (5–29%) | In 2 conditions |
| ARL13BARF like GTPase 13B | Sometimes (5–29%) | In 1 condition |
| ARL3ARF like GTPase 3 | Sometimes (5–29%) | In 1 condition |
| ARMC9armadillo repeat containing 9 | Sometimes (5–29%) | In 1 condition |
| CBY1chibby 1, beta catenin antagonist | Sometimes (5–29%) | In 1 condition |
| CEP104centrosomal protein 104 | Sometimes (5–29%) | In 1 condition |
| CEP120centrosomal protein 120 | Sometimes (5–29%) | In 3 conditions |
| CEP41centrosomal protein 41 | Sometimes (5–29%) | In 2 conditions |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| DLL4delta like canonical Notch ligand 4 | Sometimes (5–29%) | In 1 condition |
| DOCK6dedicator of cytokinesis 6 | Sometimes (5–29%) | In 1 condition |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Sometimes (5–29%) | In 1 condition |
| FGFR3fibroblast growth factor receptor 3 | Sometimes (5–29%) | In 1 condition |
| FLNAfilamin A | Sometimes (5–29%) | In 1 condition |
| FRAS1Fraser extracellular matrix complex subunit 1 | Sometimes (5–29%) | In 2 conditions |
| FREM2FRAS1 related extracellular matrix 2 | Sometimes (5–29%) | In 1 condition |
| GRIP1glutamate receptor interacting protein 1 | Sometimes (5–29%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Sometimes (5–29%) | In 1 condition |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Sometimes (5–29%) | In 1 condition |
| IFT74intraflagellar transport 74 | Sometimes (5–29%) | In 1 condition |
| INPP5Einositol polyphosphate-5-phosphatase E | Sometimes (5–29%) | In 2 conditions |
| KATNIPkatanin interacting protein | Sometimes (5–29%) | In 1 condition |
| KIAA0586KIAA0586 | Sometimes (5–29%) | In 1 condition |
| KIAA0753KIAA0753 | Sometimes (5–29%) | In 1 condition |
| NOTCH1notch receptor 1 | Sometimes (5–29%) | In 1 condition |
| NPHP1nephrocystin 1 | Sometimes (5–29%) | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Sometimes (5–29%) | In 1 condition |
| PDE6Dphosphodiesterase 6D | Sometimes (5–29%) | In 1 condition |
| PIBF1progesterone immunomodulatory binding factor 1 | Sometimes (5–29%) | In 1 condition |
| POLR1BRNA polymerase I subunit B | Sometimes (5–29%) | In 1 condition |
| POLR1CRNA polymerase I and III subunit C | Sometimes (5–29%) | In 1 condition |
| POLR1DRNA polymerase I and III subunit D | Sometimes (5–29%) | In 1 condition |
| POMT2protein O-mannosyltransferase 2 | Sometimes (5–29%) | In 1 condition |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Sometimes (5–29%) | In 1 condition |
| SUFUSUFU negative regulator of hedgehog signaling | Sometimes (5–29%) | In 1 condition |
| TCOF1treacle ribosome biogenesis factor 1 | Sometimes (5–29%) | In 1 condition |
| TMEM138transmembrane protein 138 | Sometimes (5–29%) | In 2 conditions |
| TMEM218transmembrane protein 218 | Sometimes (5–29%) | In 1 condition |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Sometimes (5–29%) | In 1 condition |
| ZIC1Zic family zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| ZIC4Zic family zinc finger 4 | Sometimes (5–29%) | In 1 condition |
| ZNF423zinc finger protein 423 | Sometimes (5–29%) | In 1 condition |
| CRPPACDP-L-ribitol pyrophosphorylase A | Not recorded | In 1 condition |
| FKTNfukutin | Not recorded | In 1 condition |
| FLNBfilamin B | Not recorded | In 1 condition |
| MSX2msh homeobox 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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