/X-linked complicated corpus callosum dysgenesis

X-linked complicated corpus callosum dysgenesis

Rare Disease

MONDO:0010569

Also Known As

corpus callosum, partial agenesis of, X-linked recessiveX-linked complicated corpus callosum agenesisX-linked partial agenesis of corpus callosumX-linked partial corpus callosum agenesiscorpus callosum, partial agenesis of, X-linked

Definition

X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.