Agenesis of the corpus callosum with peripheral neuropathy
MONDO:0000902Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.
Also known as: Andermann syndrome, Charlevoix disease, agenesis of the corpus callosum with peripheral neuropathy, corpus callosum agenesis-neuronopathy syndrome, hereditary motor and sensory neuropathy with agenesis of the corpus callosum, peripheral neuropathy associated with agenesis of the corpus callosum, ACCPN, HMSN/ACC
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