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.