NCIt definition : An autosomal recessive condition caused by mutation(s) in the SMARCAL1 gene, encoding
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily
A-like protein 1. It is characterized by short stature, intrauterine growth restriction,
microdontia, depressed nasal bridge, skeletal dysplasia, immune complex nephritis
and immune deficiency.;