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:

Willemsen et al 2013

Tim Aroon et al 2017

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

de Ligt at al 2012

Last modified
2 January 2021
Abbreviation
MRD18
OMIM

# 615074 Mental retardation, autosomal dominant 18

ORPHA

ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

Patient Organization

Helping Hands for GAND

Supports individuals and families affected by GATAD2B-associated neurodevelopmental disorder (GAND), to increase awareness, and to work toward research and treatment...

Disease
Symptom
a tubular-shaped nose, narrow palpebral fissures, thin hair, periorbital fullness, strabismus, hypertelorism (wide distance of inner corners of the eye), a short philtrum (connection lower...
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