Article
Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.
European journal of medical genetics - 1 Aug 2018
Moortgat Stéphanie, Lederer Damien, Deprez Marie, Buzatu Marga, Clapuyt Philippe, Boulanger Sébastien, Benoit Valérie, Mary Sandrine, Guichet Agnès, Ziegler Alban, Colin Estelle, Bonneau Dominique, Maystadt Isabelle
Abstract excerpt
Mutations in the oligophrenin 1 gene (OPHN1) have been identified in patients with X-linked intellectual disability (XLID) associated with cerebellar hypoplasia and ventriculomegaly, suggesting it could be a recognizable syndromic intellectual disability (ID). Affected individuals share additional clinical features including speech delay, seizures, strabismus, behavioral difficulties, and slight facial...
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