Trait
Abnormality of the eyelid
Clinical name: Abnormal eyelid morphology
An abnormality of the eyelids.
Summary
- Also called
- Abnormality of the eyelids
- Body system
- Abnormality of head or neck
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test55 genes linked to Abnormality of the eyelid
Changes in these genes cause rare conditions in which Abnormality of the eyelid 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 |
|---|---|---|
| CDH1cadherin 1 | Very often (80–99%) | In 1 condition |
| CTNND1catenin delta 1 | Very often (80–99%) | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Very often (80–99%) | In 1 condition |
| PEX6peroxisomal biogenesis factor 6 | Very often (80–99%) | In 1 condition |
| SLC25A24solute carrier family 25 member 24 | Very often (80–99%) | In 1 condition |
| SLC39A4solute carrier family 39 member 4 | Very often (80–99%) | In 1 condition |
| VPS13Bvacuolar protein sorting 13 homolog B | Very often (80–99%) | In 1 condition |
| ARVCFARVCF delta catenin family member | Often (30–79%) | In 1 condition |
| CHRNGcholinergic receptor nicotinic gamma subunit | Often (30–79%) | In 1 condition |
| COMTcatechol-O-methyltransferase | Often (30–79%) | In 1 condition |
| COX7Bcytochrome c oxidase subunit 7B | Often (30–79%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Often (30–79%) | In 1 condition |
| GP1BBglycoprotein Ib platelet subunit beta | Often (30–79%) | In 1 condition |
| HCCSholocytochrome c synthase | Often (30–79%) | In 1 condition |
| HIRAhistone cell cycle regulator | Often (30–79%) | In 1 condition |
| JMJD1Cjumonji domain containing 1C | Often (30–79%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Often (30–79%) | In 1 condition |
| MYH3myosin heavy chain 3 | Often (30–79%) | In 1 condition |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Often (30–79%) | In 1 condition |
| RREB1ras responsive element binding protein 1 | Often (30–79%) | In 1 condition |
| SEC24CSEC24 homolog C, COPII component | Often (30–79%) | In 1 condition |
| TBX1T-box transcription factor 1 | Often (30–79%) | In 1 condition |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Often (30–79%) | In 1 condition |
| BRCA1BRCA1 DNA repair associated | Sometimes (5–29%) | In 1 condition |
| BRCA2BRCA2 DNA repair associated | Sometimes (5–29%) | In 1 condition |
| BRIP1BRCA1 interacting DNA helicase 1 | Sometimes (5–29%) | In 1 condition |
| CD28CD28 molecule | Sometimes (5–29%) | In 1 condition |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Sometimes (5–29%) | In 1 condition |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Sometimes (5–29%) | In 1 condition |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Sometimes (5–29%) | In 1 condition |
| FAAP100FA core complex associated protein 100 | Sometimes (5–29%) | In 1 condition |
| FANCAFA complementation group A | Sometimes (5–29%) | In 1 condition |
| FANCBFA complementation group B | Sometimes (5–29%) | In 1 condition |
| FANCCFA complementation group C | Sometimes (5–29%) | In 1 condition |
| FANCD2FA complementation group D2 | Sometimes (5–29%) | In 1 condition |
| FANCEFA complementation group E | Sometimes (5–29%) | In 1 condition |
| FANCFFA complementation group F | Sometimes (5–29%) | In 1 condition |
| FANCGFA complementation group G | Sometimes (5–29%) | In 1 condition |
| FANCIFA complementation group I | Sometimes (5–29%) | In 1 condition |
| FANCLFA complementation group L | Sometimes (5–29%) | In 1 condition |
Show 15 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| FANCMFA complementation group M | Sometimes (5–29%) | In 1 condition |
| KIF11kinesin family member 11 | Sometimes (5–29%) | In 1 condition |
| MAD2L2mitotic arrest deficient 2 like 2 | Sometimes (5–29%) | In 1 condition |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Sometimes (5–29%) | In 1 condition |
| NBNnibrin | Sometimes (5–29%) | In 1 condition |
| PALB2partner and localizer of BRCA2 | Sometimes (5–29%) | In 1 condition |
| RAD51RAD51 recombinase | Sometimes (5–29%) | In 1 condition |
| RAD51CRAD51 paralog C | Sometimes (5–29%) | In 1 condition |
| RFWD3ring finger and WD repeat domain 3 | Sometimes (5–29%) | In 1 condition |
| SLX4SLX4 structure-specific endonuclease subunit | Sometimes (5–29%) | In 1 condition |
| TNFRSF1BTNF receptor superfamily member 1B | Sometimes (5–29%) | In 1 condition |
| UBE2Tubiquitin conjugating enzyme E2 T | Sometimes (5–29%) | In 1 condition |
| VAMP1vesicle associated membrane protein 1 | Sometimes (5–29%) | In 1 condition |
| XRCC2X-ray repair cross complementing 2 | Sometimes (5–29%) | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | 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.
Narrower traits
- Eye folds652 genes
- Corners of eye widely separated185 genes
- Everted eyelid63 genes
- Inflammation of eyelids62 genes
- Abnormal eyelashes43 genes
- Eyelid folded in31 genes
- Fullness of eyelids29 genes
- Eyelids stay open23 genes
- Euryblepharon19 genes
- Adhesion of eyelids16 genes
- Baggy eyes12 genes
- Palpebral thickening8 genes
- Epiblepharon7 genes
- Hooded eyelid6 genes
- Abnormality of the palpebral fissures3 genes
- Eyelid stuck to eyeball3 genes
- Eyelid nodules2 genes
- Corneopalpebral synechiae1 gene
- Multiple eyelid beaded papules1 gene
- Multiple eyelid margin cysts1 gene
- Abnormal levator palpebrae superioris morphology
- Eyelid retraction
- Failure of development of eyelid
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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