NEDESBA is a rare neurodevelopmental condition characterised primarily by a neurodevelopmental and neurodegenerative decline.
Many of the affected children with TRAPPC4 genetic ‘errors have some or all of the clinical features:
• Seizures or fits
• Slower learning of skills (developmental delay)
• Smaller brain and head s (microcephaly)
• Problems with limb movements
• Unusual facial structure (dysmorphism)
This disease is progressive in some children, so their condition worsens with time.
TRAPPC4