Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome

Definition

A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, non-inherited, progressive, post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (e.g. hand washing/rubbing). Additional features include developmental delay, seizures and behavioral disturbances, such as self injury and unexplained crying episodes.