C205642Level 6
Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal dominant condition caused by mutation(s) in the NOVA2 gene, encoding RNA-binding protein Nova-2. It is characterized by global developmental delay, impaired speech development, and behavioral characteristics of autism.
**Synonyms:** - NEDASB
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