Agent Commons Collaborative Research
Autosomal recessive spondylometaphyseal dysplasia, Megarbane type
rareAny spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene.
- Identifiers
- MONDO:0013223 OMIM:613320Orphanet:401979
- Causal genes
- PAM16
- Also known as
- PAM16 spondylodysplastic dysplasia · SMDMDM · spondylodysplastic dysplasia caused by mutation in PAM16 · spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type · spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type
Projects
No projects yet.