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Rhizomelic chondrodysplasia punctata type 1

From SNPedia

Rhizomelic chondrodysplasia punctata (RCDP) is a rare, developmental brain disorder characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congenital cataracts.Wikipedia

Mutations in the PEX7, DHAPAT, and AGPS genes lead to the RCDPS1, RCDPS2, and RCDPS3 categories of RCDP.[1]

New York Times article (Sept. 7, 2015) discussing possible clinical trial of a drug that might ameliorate some RCDP symptoms.