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Peters plus syndrome
Summary
- Synonym
-
- Krause-Kivlin syndrome
- Peters anomaly-short limb dwarfism syndrome
- Peters-plus syndrome
- Definition
- A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability.
- Super Class
- syndrome
External Links
- Disease Ontology
- DOID:0080201
- Mondo Disease Ontology
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q6Y288 | Beta-1,3-glucosyltransferase |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8BHT6 | Beta-1,3-glucosyltransferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000347 | Micrognathia |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000384 | Preauricular skin tag |
| HP:0000405 | Conductive hearing impairment |
| HP:0000463 | Anteverted nares |
| HP:0000465 | Webbed neck |
| HP:0000470 | Short neck |
| HP:0000482 | Microcornea |
| HP:0000501 | Glaucoma |
| HP:0000504 | Abnormality of vision |
