Autosomal recessive spondylometaphyseal dysplasia, Megarbane type
MONDO:0013223Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene.
Also known as: PAM16 spondylodysplastic dysplasia, spondylodysplastic dysplasia caused by mutation in PAM16, spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, SMDMDM, autosomal recessive spondylometaphyseal dysplasia, Mégarbané type, chondrodysplasia, Megarbane-Dagher-Melki type, spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type
35 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trials