Individuals affected by BTOP generally present with epilepsy (seizures) with visual hallucinations. Anomalies of brain development called polymicrogyria can be seen on brain imaging. Psychiatric anomalies such as behavioural problems and aggressivity are also common.
Individuals affected by CMT4J present with asymmetric muscle weakness. Motor and sensory dysfunction is common. The clinical presentations are variable, and the disease onset ranges from early childhood to late adulthood.
Individuals affected by ALS11 present with adult-onset motor findings, such as asymmetric muscle weakness.
Individuals affected by YVS generally present with structural brain anomalies. Sparse and pale hair, and distinctive facial features are common. Individuals have various skeletal anomalies.
FIG4