GATAD2B-associated neurodevelopmental disorder

GATAD2B-associated neurodevelopmental disorder is a rare genetic neurodevelopmental disorder which is characterized by severe intellectual disabilities, speech delays, hypotonia and facial dysmorphia.

Signs and symptoms

The following is a list of all the symptoms:

• Moderate to severe intellectual disabilities
• Speech delay
• Macrocephaly
• Childhood low muscle tone
• Feeding problems
• Variable cardiac anomalies
• Facial dysmorphisms

Additional symptoms include polyhydramnios and epilepsy.

Causes

This condition is caused by either (usually sporadic or de novo) alterations or a deletion of the GATAD2B gene, located in chromosome 1. In familial cases, inheritance is usually autosomal dominant.

Epidemiology

78 cases have been described in medical literature.

References

Further reading

Unique - Rare Chromosome Disorder Support Group. (2022). GATAD2B-associated neurodevelopmental disorder (GAND)/GATAD2B syndrome. https://rarechromo.org/media/information/Chromosome%20%201/GATAD2B-associated%20neurodevelopmental%20disorder%20(GAND)%20GATAD2B%20syndromeQFN.pdf