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 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.