GAND syndrome

Term ID

DOID:0070048

Synonyms

• autosomal dominant intellectual developmental disorder 18
• autosomal dominant mental retardation 18
• autosomal dominant non-syndromic intellectual disability 18
• MRD18

Definition

An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3. (2)

References

• OMIM:615074

Ontology

Human Disease   ( DOID:0070048 )