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Laurin-Sandrow syndrome
Summary
- Synonym
-
- MIPduplication of fibuland ulna with absence of tibia and radius
- Sandrow syndrome
- TMIP
- miccor hands and feet with nasal defects
- mirror hands and feets-nasal defects syndrome
- mirror-image polydactyly
- tetramelic mirror-image polydactyly
- Definition
- A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3.
- Super Class
- autosomal dominant disease dysostosis
External Links
- Disease Ontology
- DOID:0111350
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q14055 | Collagen alpha-2(IX) chain |
