Professionals

This rare autosomal dominant condition is characterised by global developmental delay, severe to profound intellectual disability, abnormal tone, structural abnormality on brain MRI such as polymicrogyria and callosal abnormality. Some individuals can have seizures, feeding difficulties and other congenital anomalies. Dysmorphic features are non-specific. All affected individuals have a missense variant. Maternal gonadal mosaicism has been observed once.