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

Disease 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.


Classification level: Disorder
  • Synonym(s):
    • IQSEC2-related syndromic intellectual disability
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 309530
  • UMLS: C4751568
  • MeSH: -
  • GARD: -
  • MedDRA: -
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