CUGC for Stromme syndrome and CENPF-related disorders

Abstract

Stromme syndrome Jejunal atresia with microcephaly and ocular anomalies. Apple peel syndrome with microcephaly and ocular anomalies. Ciliopathy phenotype. Primary microcephaly and intellectual disability. 1.2 OMIM# of the disease 243605. 1.3 Name of the analysed genes or DNA/ chromosome segments CENPF. 1.4 OMIM# of the gene(s) 600236. 1.5 Mutational spectrum Data according to published literature and HGMD database (https://portal.biobase-international.com). Exact figures of genotype-phenotype correlations and the full mutational spectrum of CENPF-related disorders are