AtlasTrait
Enlarged brain
Clinical name: Megalencephaly
Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).
Summary
- Also called
- Macrencephaly
- Body system
- Abnormality of the nervous system
AtlasThis page as data
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library(jsonlite)
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page <- fromJSON(url)
page$trait$nameRead the genes linked to Enlarged brain, and the rest of your genome, with one test.
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Get my Genome Test20 condition reports read genes linked to this trait
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.
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 5 of these genesCCND2AKT3MTORPIK3R2PIK3CAAbout this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 9 of these genesCDONDISP1GLI2PTCH1SHHSIX3About this report →
- Megalencephalic Leukoencephalopathy with Subcortical CystsReads 2 of these genesHEPACAMMLC1About this report →
- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
Show 16 more reports
- Canavan DiseaseReads 1 of these genesASPAAbout this report →
- Curry-Jones Syndrome (Mosaic SMO Syndrome)Reads 1 of these genesSMOAbout this report →
- DLL1-Related Neurodevelopmental DisorderReads 1 of these genesDLL1About this report →
- Feingold Syndrome Type 1Reads 1 of these genesMYCNAbout this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- Nevoid Basal Cell Carcinoma (Gorlin) SyndromeReads 1 of these genesPTCH1About this report →
- Syndromic CraniosynostosisReads 3 of these genesFGFR3SMOFGFR2About this report →
- Other Inherited LeukodystrophiesReads 4 of these genesHEPACAMMLC1EIF2B5ASPAAbout this report →
- Vanishing White Matter DiseaseReads 1 of these genesEIF2B5About this report →
- Heterotaxy & Laterality DefectsReads 1 of these genesNODALAbout this report →
- Autosomal Recessive Primary MicrocephalyReads 1 of these genesSTILAbout this report →
- Inherited Neurodegenerative DisordersReads 4 of these genesHEPACAMMLC1EIF2B5ASPAAbout this report →
- Intellectual DisabilityReads 3 of these genesSMSCRADDRAB39BAbout this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesSHHAbout this report →
- Hypogonadotropic HypogonadismReads 1 of these genesFGF8About this report →
- Epilepsy (Full Panel)Reads 1 of these genesSTRADAAbout this report →
Read the genes linked to Enlarged brain, and the rest of your genome, with one test.
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Get my Genome Test35 genes linked to Enlarged brain
Changes in these genes cause rare conditions in which Enlarged brain 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 |
|---|---|---|
| CCND2cyclin D2 | Always | In 2 conditions |
| HEPACAMhepatic and glial cell adhesion molecule | Always | In 3 conditions |
| MLC1modulator of VRAC current 1 | Always | In 1 condition |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Always | In 1 condition |
| AKT3AKT serine/threonine kinase 3 | Very often (80–99%) | In 1 condition |
| MTORmechanistic target of rapamycin kinase | Very often (80–99%) | In 2 conditions |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Very often (80–99%) | In 2 conditions |
| STRADASTE20 related adaptor alpha | Very often (80–99%) | In 2 conditions |
| EIF2B5eukaryotic translation initiation factor 2B subunit epsilon | Often (30–79%) | In 1 condition |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Often (30–79%) | In 2 conditions |
| ASPAaspartoacylase | Sometimes (5–29%) | In 1 condition |
| CDONcell adhesion associated, oncogene regulated | Sometimes (5–29%) | In 1 condition |
| CRIPTOcripto, EGF-CFC family member | Sometimes (5–29%) | In 1 condition |
| DISP1dispatched RND transporter family member 1 | Sometimes (5–29%) | In 1 condition |
| DLL1delta like canonical Notch ligand 1 | Sometimes (5–29%) | In 1 condition |
| DOT1LDOT1 like histone lysine methyltransferase | Sometimes (5–29%) | In 1 condition |
| FGF8fibroblast growth factor 8 | Sometimes (5–29%) | In 1 condition |
| FGFR3fibroblast growth factor receptor 3 | Sometimes (5–29%) | In 2 conditions |
| FOXH1forkhead box H1 | Sometimes (5–29%) | In 1 condition |
| GAS1growth arrest specific 1 | Sometimes (5–29%) | In 1 condition |
| GLI2GLI family zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| NODALnodal growth differentiation factor | Sometimes (5–29%) | In 1 condition |
| PTCH1patched 1 | Sometimes (5–29%) | In 1 condition |
| SHHsonic hedgehog signaling molecule | Sometimes (5–29%) | In 1 condition |
| SIX3SIX homeobox 3 | Sometimes (5–29%) | In 1 condition |
| SMOsmoothened, frizzled class receptor | Sometimes (5–29%) | In 1 condition |
| STILSTIL centriolar assembly protein | Sometimes (5–29%) | In 1 condition |
| TGIF1TGFB induced factor homeobox 1 | Sometimes (5–29%) | In 1 condition |
| ZIC2Zic family zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| SMSspermine synthase | Rarely (1–4%) | In 1 condition |
| CRADDCARD and death domain containing adaptor protein | Not recorded | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Not recorded | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Not recorded | In 1 condition |
| RAB39BRAB39B, member RAS oncogene family | Not recorded | In 1 condition |
| TBC1D7TBC1 domain family member 7 | 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 2026.10.19-9814e911.
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