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agenesis of the corpus callosum with peripheral neuropathy

Disease Summary
Associated Targets (1)


Mondo Description Corpus 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.
Uniprot Description A disease that is characterized by severe progressive sensorimotor neuropathy, mental retardation, dysmorphic features and complete or partial agenesis of the corpus callosum.
Disease Ontology Description A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has material basis in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14.
Mondo Term and Equivalent IDs
MONDO:0000902:  agenesis of the corpus callosum with peripheral neuropathy