Autosomal dominant mental retardation-18
The name of this condition comprises GATAD2B ‘syndrome’ or GAND as well as ‘severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome’.
The cause is a loss of function of the GATA2B gene by a chromosomal (1q21.3) microdeletion resulting in the absence of the gene or a loss of function of the gene (the gene is present but not working due to a defect).
Missing one copy of the GATAD2B gene causes a distinctive phenotype with childhood hypotonia, severe intellectual disability, limited speech, tubular-shaped nose with broad nasal tip, short philtrum, sparse hair and strabismus.
The GATAD2B gene has been found to lead to synaptic undergrowth:
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
# 615074 Mental retardation, autosomal dominant 18
ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Supports individuals and families affected by GATAD2B-associated neurodevelopmental disorder (GAND), to increase awareness, and to work toward research and treatment...