Trait
Small ears
Clinical name: Microtia
Underdevelopment of the external ear.
Summary
- Also called
- Underdeveloped ears, Bilateral microtia, Hypoplasia of the external ear, Hypoplastic ears, Hypoplastic pinna, Small pinnae
- Body system
- Abnormality of the ear
Reference genomeGRCh38hg38
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Get my Genome Test197 genes linked to Small ears
Changes in these genes cause rare conditions in which Small ears 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 |
|---|---|---|
| CDC6cell division cycle 6 | Always | In 1 condition |
| CDT1chromatin licensing and DNA replication factor 1 | Always | In 1 condition |
| CPAPcentrosome assembly and centriole elongation protein | Always | In 1 condition |
| DACT1dishevelled binding antagonist of beta catenin 1 | Always | In 2 conditions |
| DCHS1dachsous cadherin-related 1 | Always | In 2 conditions |
| DONSONDNA replication fork stabilization factor DONSON | Always | In 1 condition |
| EIF4A2eukaryotic translation initiation factor 4A2 | Always | In 1 condition |
| ERI1exoribonuclease 1 | Always | In 1 condition |
| FAT4FAT atypical cadherin 4 | Always | In 3 conditions |
| FGFR3fibroblast growth factor receptor 3 | Always | In 3 conditions |
| FOXI3forkhead box I3 | Always | In 1 condition |
| GINS3GINS complex subunit 3 | Always | In 1 condition |
| GMNNgeminin DNA replication inhibitor | Always | In 1 condition |
| HOXA2homeobox A2 | Always | In 2 conditions |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Always | In 1 condition |
| HSPA9heat shock protein family A (Hsp70) member 9 | Always | In 1 condition |
| ITGA6integrin subunit alpha 6 | Always | In 1 condition |
| KDM6Alysine demethylase 6A | Always | In 1 condition |
| KMT2Dlysine methyltransferase 2D | Always | In 2 conditions |
| LMNAlamin A/C | Always | In 1 condition |
| MAP1Bmicrotubule associated protein 1B | Always | In 1 condition |
| MCM5minichromosome maintenance complex component 5 | Always | In 1 condition |
| NINninein | Always | In 2 conditions |
| ORC1origin recognition complex subunit 1 | Always | In 1 condition |
| ORC4origin recognition complex subunit 4 | Always | In 1 condition |
| ORC6origin recognition complex subunit 6 | Always | In 1 condition |
| PLECplectin | Always | In 2 conditions |
| POLR1CRNA polymerase I and III subunit C | Always | In 2 conditions |
| PRIM1DNA primase subunit 1 | Always | In 1 condition |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Always | In 2 conditions |
| RIPK4receptor interacting serine/threonine kinase 4 | Always | In 1 condition |
| RPS28ribosomal protein S28 | Always | In 2 conditions |
| SALL1spalt like transcription factor 1 | Always | In 2 conditions |
| SIAH1siah E3 ubiquitin protein ligase 1 | Always | In 1 condition |
| STAG2STAG2 cohesin complex component | Always | In 2 conditions |
| TAF4TATA-box binding protein associated factor 4 | Always | In 1 condition |
| TSR2TSR2 ribosome maturation factor | Always | In 2 conditions |
| UBAP2Lubiquitin associated protein 2 like | Always | In 1 condition |
| ZSCAN10zinc finger and SCAN domain containing 10 | Always | In 1 condition |
| AGAaspartylglucosaminidase | Very often (80–99%) | In 1 condition |
Show 157 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| CDC45cell division cycle 45 | Very often (80–99%) | In 1 condition |
| CPLX1complexin 1 | Very often (80–99%) | In 1 condition |
| CTBP1C-terminal binding protein 1 | Very often (80–99%) | In 1 condition |
| DHODHdihydroorotate dehydrogenase (quinone) | Very often (80–99%) | In 1 condition |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Very often (80–99%) | In 2 conditions |
| FGF3fibroblast growth factor 3 | Very often (80–99%) | In 1 condition |
| HDAC8histone deacetylase 8 | Very often (80–99%) | In 1 condition |
| KCTD1potassium channel tetramerization domain containing 1 | Very often (80–99%) | In 2 conditions |
| LAS1LLAS1 like ribosome biogenesis factor | Very often (80–99%) | In 1 condition |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Very often (80–99%) | In 1 condition |
| NELFAnegative elongation factor complex member A | Very often (80–99%) | In 1 condition |
| NSD2nuclear receptor binding SET domain protein 2 | Very often (80–99%) | In 1 condition |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Very often (80–99%) | In 1 condition |
| POLA1DNA polymerase alpha 1, catalytic subunit | Very often (80–99%) | In 2 conditions |
| RSPO2R-spondin 2 | Very often (80–99%) | In 1 condition |
| SF3B4splicing factor 3b subunit 4 | Very often (80–99%) | In 2 conditions |
| TBX4T-box transcription factor 4 | Very often (80–99%) | In 1 condition |
| TWIST2twist family bHLH transcription factor 2 | Very often (80–99%) | In 1 condition |
| WNT3Wnt family member 3 | Very often (80–99%) | In 1 condition |
| BPTFbromodomain PHD finger transcription factor | Often (30–79%) | In 1 condition |
| CACHD1cache domain containing 1 | Often (30–79%) | In 1 condition |
| COG1component of oligomeric golgi complex 1 | Often (30–79%) | In 2 conditions |
| DLK1delta like non-canonical Notch ligand 1 | Often (30–79%) | In 1 condition |
| EDNRAendothelin receptor type A | Often (30–79%) | In 1 condition |
| FAAP100FA core complex associated protein 100 | Often (30–79%) | In 1 condition |
| FANCFFA complementation group F | Often (30–79%) | In 1 condition |
| FANCLFA complementation group L | Often (30–79%) | In 1 condition |
| FGF10fibroblast growth factor 10 | Often (30–79%) | In 2 conditions |
| FGFR2fibroblast growth factor receptor 2 | Often (30–79%) | In 4 conditions |
| FIG4FIG4 phosphoinositide 5-phosphatase | Often (30–79%) | In 1 condition |
| GLI3GLI family zinc finger 3 | Often (30–79%) | In 2 conditions |
| HYAL2hyaluronidase 2 | Often (30–79%) | In 1 condition |
| MAFMAF bZIP transcription factor | Often (30–79%) | In 2 conditions |
| MAN2C1mannosidase alpha class 2C member 1 | Often (30–79%) | In 1 condition |
| MED12mediator complex subunit 12 | Often (30–79%) | In 2 conditions |
| MEG3maternally expressed 3 | Often (30–79%) | In 1 condition |
| PCGF2polycomb group ring finger 2 | Often (30–79%) | In 1 condition |
| POLR1BRNA polymerase I subunit B | Often (30–79%) | In 1 condition |
| POLR1DRNA polymerase I and III subunit D | Often (30–79%) | In 2 conditions |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Often (30–79%) | In 1 condition |
| RECQLRecQ like helicase | Often (30–79%) | In 1 condition |
| RIC1RIC1 partner of RAB6A GEF complex | Often (30–79%) | In 1 condition |
| RPS26ribosomal protein S26 | Often (30–79%) | In 2 conditions |
| RTL1retrotransposon Gag like 1 | Often (30–79%) | In 1 condition |
| SF3B2splicing factor 3b subunit 2 | Often (30–79%) | In 1 condition |
| SPOPspeckle type BTB/POZ protein | Often (30–79%) | In 1 condition |
| TCOF1treacle ribosome biogenesis factor 1 | Often (30–79%) | In 2 conditions |
| TWIST1twist family bHLH transcription factor 1 | Often (30–79%) | In 3 conditions |
| UQCRHubiquinol-cytochrome c reductase hinge protein | Often (30–79%) | In 1 condition |
| ACTBactin beta | Sometimes (5–29%) | In 1 condition |
| ADNPactivity dependent neuroprotector homeobox | Sometimes (5–29%) | In 1 condition |
| AHDC1AT-hook DNA binding motif containing 1 | Sometimes (5–29%) | In 1 condition |
| BMP2bone morphogenetic protein 2 | Sometimes (5–29%) | In 1 condition |
| CASZ1castor zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| CHD5chromodomain helicase DNA binding protein 5 | Sometimes (5–29%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Sometimes (5–29%) | In 2 conditions |
| DBR1debranching RNA lariats 1 | Sometimes (5–29%) | In 1 condition |
| DHRS3dehydrogenase/reductase 3 | Sometimes (5–29%) | In 1 condition |
| EIF5Aeukaryotic translation initiation factor 5A | Sometimes (5–29%) | In 1 condition |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Sometimes (5–29%) | In 3 conditions |
| FBXO22F-box protein 22 | Sometimes (5–29%) | In 1 condition |
| FRAS1Fraser extracellular matrix complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| FREM2FRAS1 related extracellular matrix 2 | Sometimes (5–29%) | In 1 condition |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Sometimes (5–29%) | In 1 condition |
| GRIP1glutamate receptor interacting protein 1 | Sometimes (5–29%) | In 1 condition |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Sometimes (5–29%) | In 1 condition |
| HIVEP2HIVEP zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| HOXA13homeobox A13 | Sometimes (5–29%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Sometimes (5–29%) | In 1 condition |
| ITGB4integrin subunit beta 4 | Sometimes (5–29%) | In 1 condition |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Sometimes (5–29%) | In 1 condition |
| KIF15kinesin family member 15 | Sometimes (5–29%) | In 1 condition |
| LUZP1leucine zipper protein 1 | Sometimes (5–29%) | In 1 condition |
| MAPRE2microtubule associated protein RP/EB family member 2 | Sometimes (5–29%) | In 1 condition |
| MED16mediator complex subunit 16 | Sometimes (5–29%) | In 1 condition |
| MMP23Bmatrix metallopeptidase 23B | Sometimes (5–29%) | In 1 condition |
| NFIXnuclear factor I X | Sometimes (5–29%) | In 1 condition |
| PDPNpodoplanin | Sometimes (5–29%) | In 1 condition |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Sometimes (5–29%) | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Sometimes (5–29%) | In 1 condition |
| POLR1ARNA polymerase I subunit A | Sometimes (5–29%) | In 1 condition |
| PRDM16PR/SET domain 16 | Sometimes (5–29%) | In 1 condition |
| PRKCZprotein kinase C zeta | Sometimes (5–29%) | In 1 condition |
| RAB34RAB34, member RAS oncogene family | Sometimes (5–29%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Sometimes (5–29%) | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Sometimes (5–29%) | In 1 condition |
| ROR2ROR family WNT receptor 2 | Sometimes (5–29%) | In 1 condition |
| RPL17ribosomal protein L17 | Sometimes (5–29%) | In 1 condition |
| SEMA3Esemaphorin 3E | Sometimes (5–29%) | In 1 condition |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Sometimes (5–29%) | In 1 condition |
| SIM1SIM bHLH transcription factor 1 | Sometimes (5–29%) | In 1 condition |
| SIX1SIX homeobox 1 | Sometimes (5–29%) | In 2 conditions |
| SIX5SIX homeobox 5 | Sometimes (5–29%) | In 1 condition |
| SKISKI proto-oncogene | Sometimes (5–29%) | In 1 condition |
| SLC35C1solute carrier family 35 member C1 | Sometimes (5–29%) | In 1 condition |
| SLF2SMC5/6 complex localization factor 2 | Sometimes (5–29%) | In 1 condition |
| SMAD4SMAD family member 4 | Sometimes (5–29%) | In 1 condition |
| SPENspen family transcriptional repressor | Sometimes (5–29%) | In 1 condition |
| UBE4Bubiquitination factor E4B | Sometimes (5–29%) | In 1 condition |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Sometimes (5–29%) | In 1 condition |
| WBP4WW domain binding protein 4 | Sometimes (5–29%) | In 1 condition |
| ZMYM2zinc finger MYM-type containing 2 | Sometimes (5–29%) | In 1 condition |
| ADA2adenosine deaminase 2 | Rarely (1–4%) | In 1 condition |
| CTCFCCCTC-binding factor | Rarely (1–4%) | In 1 condition |
| GATA1GATA binding protein 1 | Rarely (1–4%) | In 1 condition |
| HEATR3HEAT repeat containing 3 | Rarely (1–4%) | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Rarely (1–4%) | In 1 condition |
| RPL11ribosomal protein L11 | Rarely (1–4%) | In 1 condition |
| RPL15ribosomal protein L15 | Rarely (1–4%) | In 1 condition |
| RPL18ribosomal protein L18 | Rarely (1–4%) | In 1 condition |
| RPL26ribosomal protein L26 | Rarely (1–4%) | In 1 condition |
| RPL27ribosomal protein L27 | Rarely (1–4%) | In 1 condition |
| RPL31ribosomal protein L31 | Rarely (1–4%) | In 1 condition |
| RPL35ribosomal protein L35 | Rarely (1–4%) | In 1 condition |
| RPL35Aribosomal protein L35a | Rarely (1–4%) | In 1 condition |
| RPL5ribosomal protein L5 | Rarely (1–4%) | In 1 condition |
| RPL8ribosomal protein L8 | Rarely (1–4%) | In 1 condition |
| RPL9ribosomal protein L9 | Rarely (1–4%) | In 1 condition |
| RPS10ribosomal protein S10 | Rarely (1–4%) | In 1 condition |
| RPS15Aribosomal protein S15a | Rarely (1–4%) | In 1 condition |
| RPS17ribosomal protein S17 | Rarely (1–4%) | In 1 condition |
| RPS19ribosomal protein S19 | Rarely (1–4%) | In 1 condition |
| RPS20ribosomal protein S20 | Rarely (1–4%) | In 1 condition |
| RPS24ribosomal protein S24 | Rarely (1–4%) | In 1 condition |
| RPS27ribosomal protein S27 | Rarely (1–4%) | In 1 condition |
| RPS29ribosomal protein S29 | Rarely (1–4%) | In 1 condition |
| RPS7ribosomal protein S7 | Rarely (1–4%) | In 1 condition |
| ZNF462zinc finger protein 462 | Rarely (1–4%) | In 1 condition |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Not recorded | In 1 condition |
| AMER1APC membrane recruitment protein 1 | Not recorded | In 1 condition |
| ATRXATRX chromatin remodeler | Not recorded | In 2 conditions |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Not recorded | In 1 condition |
| CHST3carbohydrate sulfotransferase 3 | Not recorded | In 2 conditions |
| CRPPACDP-L-ribitol pyrophosphorylase A | Not recorded | In 1 condition |
| FBXO11F-box protein 11 | Not recorded | In 1 condition |
| FKRPfukutin related protein | Not recorded | In 1 condition |
| FKTNfukutin | Not recorded | In 1 condition |
| GBA1glucosylceramidase beta 1 | Not recorded | In 1 condition |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Not recorded | In 1 condition |
| INTUinturned planar cell polarity protein | Not recorded | In 1 condition |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Not recorded | In 1 condition |
| LMBRD1LMBR1 domain containing 1 | Not recorded | In 1 condition |
| MBD5methyl-CpG binding domain protein 5 | Not recorded | In 1 condition |
| MSX2msh homeobox 2 | Not recorded | In 1 condition |
| PAK1p21 (RAC1) activated kinase 1 | Not recorded | In 1 condition |
| PAM16presequence translocase associated motor 16 | Not recorded | In 1 condition |
| PBX1PBX homeobox 1 | Not recorded | In 1 condition |
| PCNTpericentrin | Not recorded | In 1 condition |
| POC1APOC1 centriolar protein A | Not recorded | In 1 condition |
| POLEDNA polymerase epsilon, catalytic subunit | Not recorded | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Not recorded | In 1 condition |
| POMT2protein O-mannosyltransferase 2 | Not recorded | In 1 condition |
| RBM10RNA binding motif protein 10 | Not recorded | In 1 condition |
| RSPRY1ring finger and SPRY domain containing 1 | Not recorded | In 1 condition |
| SKIC3SKI3 subunit of superkiller complex | Not recorded | In 1 condition |
| TFAP2Atranscription factor AP-2 alpha | Not recorded | In 1 condition |
| TP63tumor protein p63 | 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 2026.10.16-c6eea6bf.
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