Trait
Cranial defect
Clinical name: Calvarial skull defect
A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.
Summary
- Also called
- Skull defect
Reference genomeGRCh38hg38
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Get my Genome Test28 genes linked to Cranial defect
Changes in these genes cause rare conditions in which Cranial defect 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 |
|---|---|---|
| ALX4ALX homeobox 4 | Always | In 2 conditions |
| POLR1ARNA polymerase I subunit A | Always | In 1 condition |
| ARHGAP31Rho GTPase activating protein 31 | Very often (80–99%) | In 2 conditions |
| BMS1BMS1 ribosome biogenesis factor | Very often (80–99%) | In 1 condition |
| COL18A1collagen type XVIII alpha 1 chain | Very often (80–99%) | In 1 condition |
| DLL4delta like canonical Notch ligand 4 | Very often (80–99%) | In 3 conditions |
| DOCK6dedicator of cytokinesis 6 | Very often (80–99%) | In 1 condition |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Very often (80–99%) | In 1 condition |
| ITGB4integrin subunit beta 4 | Very often (80–99%) | In 1 condition |
| NOTCH1notch receptor 1 | Very often (80–99%) | In 1 condition |
| PAK2p21 (RAC1) activated kinase 2 | Very often (80–99%) | In 1 condition |
| PLECplectin | Very often (80–99%) | In 1 condition |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Very often (80–99%) | In 1 condition |
| UBA2ubiquitin like modifier activating enzyme 2 | Very often (80–99%) | In 1 condition |
| CPLX1complexin 1 | Often (30–79%) | In 1 condition |
| CTBP1C-terminal binding protein 1 | Often (30–79%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Often (30–79%) | In 1 condition |
| LBRlamin B receptor | Often (30–79%) | In 1 condition |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Often (30–79%) | In 1 condition |
| NELFAnegative elongation factor complex member A | Often (30–79%) | In 1 condition |
| NSD2nuclear receptor binding SET domain protein 2 | Often (30–79%) | In 1 condition |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Often (30–79%) | 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 |
| KCTD1potassium channel tetramerization domain containing 1 | Sometimes (5–29%) | In 1 condition |
| WNT7AWnt family member 7A | Sometimes (5–29%) | In 1 condition |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | 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.
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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