Preferred Label : Corpus callosum agenesis - neuronopathy;
ICD-11 definition : Corpus callosum agenesis-neuronopathy is an early-onset disease characterized by a
delay in developmental milestones, a severe sensory-motor polyneuropathy with areflexia,
a variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive
impairment.;
ICD-11 synonym : Charlevoix disease; Andermann syndrome;
Origin ID : 1443432032;
Currated CISMeF NLP mapping
Corpus callosum agenesis-neuronopathy is an early-onset disease characterized by a
delay in developmental milestones, a severe sensory-motor polyneuropathy with areflexia,
a variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive
impairment.
