- Source: 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
