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Cenani-Lenz syndactyly syndrome
Summary
- Synonym
-
- syndactyly type 7
- Definition
- A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11.
- Super Class
- dysostosis
External Links
- Disease Ontology
- DOID:0090015
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75874 | Isocitrate dehydrogenase [NADP] cytoplasmic | |
| P48735 | Isocitrate dehydrogenase [NADP], mitochondrial | |
| Q16394 | Exostosin-1 | |
| Q93063 | Exostosin-2 |
