has material basis in germline mutation in SLC12A6 agenesis of the corpus callosum with peripheral neuropathy https://www.malacards.org/card/agenesis_of_the_corpus_callosum_with_peripheral_neuropathy hereditary motor and sensory neuropathy with agenesis of the corpus callosum icd11.foundation:1443432032 DOID:0060600 agenesis of corpus callosum with polyneuropathy corpus callosum agenesis-neuronopathy syndrome agenesis of corpus callosum with peripheral neuropathy HMSN/ACC 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. Andermann syndrome Orphanet:1496 UMLS:C0795950 agenesis of corpus callosum with neuronopathy MONDO:0000902 MESH:C536446 corpus callosum agenesis neuronopathy Charlevoix disease MEDGEN:162893 OMIM:218000 GARD:0001537 peripheral neuropathy associated with agenesis of the corpus callosum ACCPN DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy SCTID:702439002 inherited neurodegenerative disorder