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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:0006610 | Wide intermamillary distance |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum |
| HP:0007833 | Anterior chamber synechiae |
| HP:0007957 | Corneal opacity |
| HP:0008569 | Microtia, second degree |
| HP:0008678 | Renal hypoplasia/aplasia |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0008873 | Disproportionate short-limb short stature |
| HP:0008897 | Postnatal growth retardation |
| HP:0008905 | Rhizomelia |
