GATAD2B-associated neurodevelopmental disorder
From Wikipedia, the free encyclopedia
| GATAD2B-associated neurodevelopmental disorder | |
|---|---|
| Other names | GAND |
| Specialty | Medical genetics |
| Usual onset | Birth |
| Duration | Life-long |
| Causes | Mutation in the GATAD2B gene. |
| Prevention | none |
| Prognosis | Medium, nearing good |
| Frequency | very rare, only 78 cases have been described in medical literature |
| Deaths | - |
GATAD2B-associated neurodevelopmental disorder is a rare genetic neurodevelopmental disorder which is characterized by severe intellectual disabilities, speech delays, hypotonia and facial dysmorphia.[1]
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]