Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Definition
An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3.
Also known as autosomal dominant intellectual disability 18, GAND syndrome, intellectual disability, autosomal dominant type 18, mental retardation, autosomal dominant type 18, MRD18, severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome — per MONDO