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GATAD2B-associated neurodevelopmental disorder
Medical condition From Wikipedia, the free encyclopedia
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GATAD2B-associated neurodevelopmental disorder is a rare genetic neurodevelopmental disorder which is characterized by severe intellectual disabilities, speech delays, hypotonia and facial dysmorphia.[1]
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Signs and symptoms
The following is a list of all the symptoms:[2]
- 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.[3]
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.[4][5]
Epidemiology
78 cases have been described in medical literature.[6]
References
Further reading
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