Renpenning syndrome
Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.
Novel truncating mutations in the <span class="gene" id="15024694-0-34-71">polyglutamine tract binding protein 1</span> gene (<span class="gene" id="15024694-0-78-83">PQBP1</span>) cause <span class="disease" id="15024694-0-91-110">Renpenning syndrome</span> and X-linked mental retardation in another family with microcephaly.