C202606Level 6
Intellectual Developmental Disorder, Autosomal Dominant 18
**Semantic type:** Mental or Behavioral Dysfunction
**Definition:** An autosomal dominant neurodevelopmental syndrome caused by mutation(s) in the GATAD2B gene, encoding transcriptional repressor p66-beta. It is characterized by global developmental delay and intellectual impairment.
**Synonyms:** - GAND Syndrome - MRD18 - Mental Retardation, Autosomal Dominant 18
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