Trait

Abnormal earlobe

Clinical name: Abnormal earlobe morphology

An abnormality of the lobule of pinna.

HPO HP:0000363

Also called: Abnormality of ear lobe, Abnormality of earlobe, Abnormal lobe of ear, Abnormality of auricular lobule, Abnormality of lobulus auriculae
Body system: Abnormality of the ear

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29 genes linked to Abnormal earlobe

Changes in these genes cause rare conditions in which Abnormal earlobe 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
CUL4Bcullin 4B	Very often (80–99%)	In 1 condition
HYMAIhydatidiform mole associated and imprinted	Very often (80–99%)	In 1 condition
PLAGL1PLAG1 like zinc finger 1	Very often (80–99%)	In 1 condition
ATRATR checkpoint kinase	Often (30–79%)	In 1 condition
ATRIPATR interacting protein	Often (30–79%)	In 1 condition
BCRBCR activator of RhoGEF and GTPase	Often (30–79%)	In 1 condition
CENPEcentromere protein E	Often (30–79%)	In 1 condition
CEP152centrosomal protein 152	Often (30–79%)	In 1 condition
CEP295centrosomal protein 295	Often (30–79%)	In 1 condition
CEP63centrosomal protein 63	Often (30–79%)	In 1 condition
CPAPcentrosome assembly and centriole elongation protein	Often (30–79%)	In 1 condition
CRKLCRK like proto-oncogene, adaptor protein	Often (30–79%)	In 1 condition
DHCR2424-dehydrocholesterol reductase	Often (30–79%)	In 1 condition
DNA2DNA replication helicase/nuclease 2	Often (30–79%)	In 1 condition
MAPK1mitogen-activated protein kinase 1	Often (30–79%)	In 1 condition
NINninein	Often (30–79%)	In 1 condition
NSMCE2NSE2 SUMO ligase component of SMC5/6 complex	Often (30–79%)	In 1 condition
NUP85nucleoporin 85	Often (30–79%)	In 1 condition
PCNTpericentrin	Often (30–79%)	In 1 condition
PLK4polo like kinase 4	Often (30–79%)	In 1 condition
RBBP8RB binding protein 8, endonuclease	Often (30–79%)	In 1 condition
TRAIPTRAF interacting protein	Often (30–79%)	In 1 condition
COX7Bcytochrome c oxidase subunit 7B	Sometimes (5–29%)	In 1 condition
HCCSholocytochrome c synthase	Sometimes (5–29%)	In 1 condition
MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	Sometimes (5–29%)	In 1 condition
NDUFB11NADH:ubiquinone oxidoreductase subunit B11	Sometimes (5–29%)	In 1 condition
PORcytochrome p450 oxidoreductase	Sometimes (5–29%)	In 1 condition
RAC1Rac family small GTPase 1	Sometimes (5–29%)	In 1 condition
SLC26A2solute carrier family 26 member 2	Sometimes (5–29%)	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.

Narrower traits

Broader traits

Abnormally shaped ears

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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