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

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Synonyms: IQSEC2-related syndromic intellectual disability

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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