Medicine:GATAD2B-associated neurodevelopmental disorder

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GATAD2B-associated neurodevelopmental disorder
Other namesGAND
SpecialtyMedical genetics
Usual onsetBirth
DurationLife-long
CausesMutation in the GATAD2B gene.
Preventionnone
PrognosisMedium, nearing good
Frequencyvery 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]

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