DEAF1-associated neurodevelopmental disorder

Disease Overview

A neurodevelopmental disorder characterized predominantly by intellectual disability, speech delay, motor delay, autism, sleep disturbances, and a high pain threshold. This disorder may be inherited in an autosomal dominant or autosomal recessive manner, likely due to mono-allelic variant resulting in altered function and bi-allelic variants resulting in loss of function , respectively.(PMID: 30923367). It includes:

• intellectual disability-epilepsy-extrapyramidal syndrome (Exact Synonym: neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures)
• intellectual disability, autosomal dominant 24 (Exact Synonyms: autosomal dominant intellectual disability 24
  autosomal dominant non-syndromic intellectual disability caused by mutation in DEAF1
  DEAF1 autosomal dominant non-syndromic intellectual disability
  intellectual disability, autosomal dominant 24
  intellectual disability, autosomal dominant type 24
  MRD24 and Vulto-van Silfout-de Vries syndrome)