/severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

Rare Disease

MONDO:0014034

Also Known As

GAND syndromeMRD18autosomal dominant intellectual disability 18autosomal dominant mental retardation 18intellectual disability, autosomal dominant type 18mental retardation, autosomal dominant type 18severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeGATAD2B-associated neurodevelopmental disorderautosomal dominant non-syndromic intellectual disability 18intellectual disability, autosomal dominant 18mental retardation, autosomal dominant 18

Definition

An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3.