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
14 May 2020
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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