Distinct familial syndrome of severe to profound mental retardation, spastic paraplegia with contrasting axial hypotonia, short stature and distinct craniofacial appearance with nasal hypoplasia.

Fryns J P, Devriendt K, Detroch C, Decock P

Centre for Human Genetics, University of Leuven, Belgium.

Genet Couns. 1998;9(1):51-4.

Abstract

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