Rhizomelic chondrodysplasia punctata type 1
At a minimum, these SNPs are known to be related, and others may also be
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
New York Times article (Sept. 7, 2015) discussing possible clinical trial of a drug that might ameliorate some RCDP symptoms.