BTOP is characterized by temporo-occipital polymicrogyria, epilepsy and psychiatric manifestations. It is inherited in an autosomal recessive manner. The disease was reported in one family.
CMT4J is characterized by a severe and early onset form of Charcot-Marie-Tooth disease with sensory and motor neurons involvement. It is inherited in an autosomal recessive manner.
ALS11 is a milder form of CMT4J. It is characterized by adult-onset corticospinal tract findings. It is inherited in an autosomal dominant manner. Five unrelated individuals have been reported.
YVS is characterized by cleidocranial dysplasia, digital anomalies, and severe neurological involvement. It is inherited in an autosomal recessive manner. Twenty-five cases from nineteen families have been reported.
FIG4