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Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

What is Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome?

A rare, syndromic intellectual disability characterized by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported.

Inheritance type

Autosomal dominant

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
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