Autosomal recessive spondylometaphyseal dysplasia, Megarbane type

MONDO:0013223

Any 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

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