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.

[3] 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.

[6] Unique - Rare Chromosome Disorder Support Group.

GATAD2B-associated neurodevelopmental disorder (GAND)/GATAD2B syndrome.