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

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

Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome is a rare, genetic, syndromic intellectual disability disorder 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.

Other condition names

  • IQSEC2-related syndromic intellectual disability

Inheritance type

X-linked recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
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