Trait
Big head present at birth
Clinical name: Macrocephaly at birth
The presence of an abnormally large skull with onset at birth.
Summary
- Also called
- Big head present since birth, Big skull present at birth, Big skull present since birth, Congenital large head, Large head present at birth, Large head present since birth, Large skull present at birth, Large skull present since birth, Big cranium present at birth, Big cranium present since birth, Congenital large cranium, Congenital large skull, Congenital macrocephaly, Head circumference large for gestational age, Large cranium present at birth, Large cranium present since birth
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page$trait$nameRead the genes linked to Big head present at birth, and the rest of your genome, with one test.
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Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
- Congenital MyopathiesReads 3 of these genesBIN1DNM2RYR1About this report →
- Thyroid Hormone Resistance, Transport & Metabolism DefectsReads 1 of these genesSLC16A2About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesNSD1About this report →
Show 8 more reports
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 1 of these genesNSD1About this report →
- Myofibrillar MyopathiesReads 1 of these genesRYR1About this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGNAbout this report →
- Hypertrophic CardiomyopathyReads 1 of these genesNSD1About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesDNM2About this report →
- Congenital Disorders of GlycosylationReads 1 of these genesPIGNAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 1 of these genesDNM2About this report →
- Intellectual DisabilityReads 1 of these genesSLC16A2About this report →
Read the genes linked to Big head present at birth, and the rest of your genome, with one test.
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Get my Genome Test11 genes linked to Big head present at birth
Changes in these genes cause rare conditions in which Big head present at birth 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 |
|---|---|---|
| CILK1ciliogenesis associated kinase 1 | Always | In 1 condition |
| NSD1nuclear receptor binding SET domain protein 1 | Always | In 1 condition |
| BIN1bridging integrator 1 | Often (30–79%) | In 1 condition |
| DNM2dynamin 2 | Often (30–79%) | In 1 condition |
| MTMR14myotubularin related protein 14 | Often (30–79%) | In 1 condition |
| MYF6myogenic factor 6 | Often (30–79%) | In 1 condition |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Often (30–79%) | In 1 condition |
| RYR1ryanodine receptor 1 | Often (30–79%) | In 1 condition |
| FOCADfocadhesin | Sometimes (5–29%) | In 1 condition |
| ODC1ornithine decarboxylase 1 | Sometimes (5–29%) | In 1 condition |
| SLC16A2solute carrier family 16 member 2 | 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 2026.10.19-9814e911.
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