Trait
Relatively large head
Clinical name: Relative macrocephaly
A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.
Summary
- Also called
- Disproportionately large head, Macrocephaly, relative
Reference genomeGRCh38hg38
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Get my Genome Test76 genes linked to Relatively large head
Changes in these genes cause rare conditions in which Relatively large head 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 |
|---|---|---|
| ACANaggrecan | Always | In 2 conditions |
| ACER3alkaline ceramidase 3 | Always | In 1 condition |
| APC2APC regulator of Wnt signaling pathway 2 | Always | In 1 condition |
| AXIN1axin 1 | Always | In 1 condition |
| BGNbiglycan | Always | In 1 condition |
| CCDC22CCC complex scaffolding subunit CCDC22 | Always | In 1 condition |
| CILK1ciliogenesis associated kinase 1 | Always | In 1 condition |
| CUL7cullin 7 | Always | In 1 condition |
| EIF4A2eukaryotic translation initiation factor 4A2 | Always | In 1 condition |
| HMGA2high mobility group AT-hook 2 | Always | In 2 conditions |
| IFT81intraflagellar transport 81 | Always | In 1 condition |
| IGF2insulin like growth factor 2 | Always | In 4 conditions |
| KDM6Blysine demethylase 6B | Always | In 1 condition |
| KICS2KICSTOR subunit 2 | Always | In 1 condition |
| MARK2microtubule affinity regulating kinase 2 | Always | In 1 condition |
| MRASmuscle RAS oncogene homolog | Always | In 1 condition |
| RNU5B-1RNA, U5B small nuclear 1 | Always | In 1 condition |
| SERPINH1serpin family H member 1 | Always | In 1 condition |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Always | In 1 condition |
| SONSON DNA and RNA binding protein | Always | In 2 conditions |
| SPOUT1SPOUT domain containing methyltransferase 1 | Always | In 1 condition |
| TNFRSF11BTNF receptor superfamily member 11b | Always | In 1 condition |
| VPS35LVPS35 endosomal protein sorting factor like | Always | In 1 condition |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Very often (80–99%) | In 1 condition |
| ITCHitchy E3 ubiquitin protein ligase | Very often (80–99%) | In 2 conditions |
| KRASKRas proto-oncogene, GTPase | Very often (80–99%) | In 2 conditions |
| NONOnon-POU domain containing octamer binding | Very often (80–99%) | In 2 conditions |
| PLAG1PLAG1 zinc finger | Very often (80–99%) | In 1 condition |
| POLR3ARNA polymerase III subunit A | Very often (80–99%) | In 1 condition |
| AHDC1AT-hook DNA binding motif containing 1 | Often (30–79%) | In 1 condition |
| APCAPC regulator of Wnt signaling pathway | Often (30–79%) | In 1 condition |
| CEP120centrosomal protein 120 | Often (30–79%) | In 1 condition |
| DOCK3dedicator of cytokinesis 3 | Often (30–79%) | In 1 condition |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Often (30–79%) | In 1 condition |
| GRB10growth factor receptor bound protein 10 | Often (30–79%) | In 1 condition |
| H19H19 imprinted maternally expressed transcript | Often (30–79%) | In 2 conditions |
| INPPL1inositol polyphosphate phosphatase like 1 | Often (30–79%) | In 1 condition |
| LAMA5laminin subunit alpha 5 | Often (30–79%) | In 1 condition |
| LBRlamin B receptor | Often (30–79%) | In 1 condition |
| LMNAlamin A/C | Often (30–79%) | In 1 condition |
Show 36 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| LZTR1leucine zipper like post translational regulator 1 | Often (30–79%) | In 2 conditions |
| MED12mediator complex subunit 12 | Often (30–79%) | In 1 condition |
| MITFmelanocyte inducing transcription factor | Often (30–79%) | In 1 condition |
| NXNnucleoredoxin | Often (30–79%) | In 1 condition |
| POLR1ARNA polymerase I subunit A | Often (30–79%) | In 1 condition |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Often (30–79%) | In 1 condition |
| RIT1Ras like without CAAX 1 | Often (30–79%) | In 1 condition |
| SNX14sorting nexin 14 | Often (30–79%) | In 2 conditions |
| SOX9SRY-box transcription factor 9 | Often (30–79%) | In 1 condition |
| ZMPSTE24zinc metallopeptidase STE24 | Often (30–79%) | In 1 condition |
| DHCR2424-dehydrocholesterol reductase | Sometimes (5–29%) | In 1 condition |
| DLK1delta like non-canonical Notch ligand 1 | Sometimes (5–29%) | In 1 condition |
| DPH1diphthamide biosynthesis 1 | Sometimes (5–29%) | In 1 condition |
| DPH2diphthamide biosynthesis 2 | Sometimes (5–29%) | In 1 condition |
| MEG3maternally expressed 3 | Sometimes (5–29%) | In 1 condition |
| POLEDNA polymerase epsilon, catalytic subunit | Sometimes (5–29%) | In 2 conditions |
| POP1POP1 ribonuclease P/MRP subunit | Sometimes (5–29%) | In 1 condition |
| RTL1retrotransposon Gag like 1 | Sometimes (5–29%) | In 1 condition |
| SATB2SATB homeobox 2 | Sometimes (5–29%) | In 1 condition |
| TONSLtonsoku like, DNA repair protein | Sometimes (5–29%) | In 2 conditions |
| USP7ubiquitin specific peptidase 7 | Sometimes (5–29%) | In 1 condition |
| USP9Xubiquitin specific peptidase 9 X-linked | Sometimes (5–29%) | In 1 condition |
| XYLT1xylosyltransferase 1 | Sometimes (5–29%) | In 2 conditions |
| ZFXzinc finger protein X-linked | Sometimes (5–29%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Not recorded | In 1 condition |
| CUL4Bcullin 4B | Not recorded | In 1 condition |
| FHfumarate hydratase | Not recorded | In 1 condition |
| IHHIndian hedgehog signaling molecule | Not recorded | In 1 condition |
| MAP2K1mitogen-activated protein kinase kinase 1 | Not recorded | In 1 condition |
| MAP2K2mitogen-activated protein kinase kinase 2 | Not recorded | In 1 condition |
| NF1neurofibromin 1 | Not recorded | In 1 condition |
| OBSL1obscurin like cytoskeletal adaptor 1 | Not recorded | In 1 condition |
| PCGF2polycomb group ring finger 2 | Not recorded | In 1 condition |
| PTDSS1phosphatidylserine synthase 1 | Not recorded | In 1 condition |
| THRAthyroid hormone receptor alpha | Not recorded | In 1 condition |
| TRIP11thyroid hormone receptor interactor 11 | 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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