Agent Commons Collaborative Research
Atelosteogenesis type II
rareA lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.
- Identifiers
- MONDO:0009727 OMIM:256050Orphanet:56304
- Part of
- SLC26A2-related skeletal dysplasiaAtelosteogenesisInborn errors of metabolismMineral metabolism disease
- Also known as
- AO2 · AOII · atelosteogenesis II · atelosteogenesis type 2 · atelosteogenesis, type II
Projects
No projects yet.