Х-сцепленная осложненная дисгенезия мозолистого тела

A congenital, X-linked, clinical subtype of L1 syndrome, characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum. This subtype represents an unusual clinical presentation of the L1 syndrome spectrum in which no hydrocephalus, adducted thumbs, or absent speech are observed.