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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:0011220 | Prominent forehead |
| HP:0012745 | Short palpebral fissure |
| HP:0100819 | Intestinal fistula |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000059 | Hypoplastic labia majora |
| HP:0000089 | Renal hypoplasia |
| HP:0000200 | Short lingual frenulum |
| HP:0000233 | Thin vermilion border |
| HP:0000256 | Macrocephaly |
| HP:0000260 | Wide anterior fontanel |
