| Metadata | |
|---|---|
| ID | DOID:0090015 |
| Name | Cenani-Lenz syndactyly syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/18978656, https://www.ncbi.nlm.nih.gov/pubmed/20381006, https://www.ncbi.nlm.nih.gov/pubmed/6279340 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
syndactyly type 7 [EXACT] |
| Parent Relationships |
is_a dysostosis |