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C206522Level 6

Intellectual Developmental Disorder, Autosomal Dominant 52

**Semantic type:** Mental or Behavioral Dysfunction

**Definition:** An autosomal dominant subtype of intellectual developmental disorder caused by mutation(s) in the ASH1L gene, encoding histone-lysine N-methyltransferase ASH1L.

**Synonyms:** - MRD52 - Mental Retardation, Autosomal Dominant 52

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