What are the signs and symptoms?
Children with TRAPPC6B-related syndrome usually show symptoms from a very early age.
Nearly all children will have:
• Small head (microcephaly): The head is smaller than average, noticed at birth or in early infancy, reflecting reduced brain growth
• Developmental delay: Children reach milestones such as sitting, standing, and walking later than expected
• Intellectual disability:Learning and understanding are significantly affected, ranging from moderate to severe
• Speech and language difficulties:Many children have very limited speech or are non-verbal; understanding language is usually better than speaking
• Epilepsy (seizures): Seizures often start in infancy or early childhood and may be of different types
Many children will also have:
• Autistic features: Limited eye contact, difficulty with social interactions, repetitive movements (e.g., hand flapping or rocking)
• Low muscle tone (hypotonia):Muscles may feel floppy, making movement more difficult
• Brain changes on MRI scan:Reduced brain volume, thin corpus callosum, changes in the cerebellum
Some children may also have:
• Stiffness of the limbs (spasticity) or abnormal movements (dystonia)
• Behavioral challenges: hyperactivity, self-injurious behavior, or aggression
• Mild facial differences (variable and not always present)
The severity of symptoms varies between children, even within the same family.
TRAPPC6B