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rhizomelic chondrodysplasia punctata
Summary
- Synonym
-
- Chondrodysplasia Punctata, Rhizomelic Form
- Definition
- A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity.
- Super Class
- autosomal recessive disease chondrodysplasia punctata
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00116 | Alkyldihydroxyacetonephosphate synthase, peroxisomal | |
| O15228 | Dihydroxyacetone phosphate acyltransferase |
