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hypoplastic or aplastic tibia with polydactyly
Summary
- Synonym
-
- Werner mesomelic syndrome
- absence of tibia with polydactyly
- absent tibia-polydactyly syndrome
- hypoplastic tibiae-postaxial polydactyly syndrome
- tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
- Definition
- A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 gene on chromosome 7q36.3.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0111564
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
