agenesis of corpus callosum
Summary: Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.
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- Cheyuo C, Radwan W, Ahn J, Gyure K, Qaiser R, Tomboc P. Biallelic PMS2 Mutation and Heterozygous DICER1 Mutation Presenting as Constitutional Mismatch Repair Deficiency With Corpus Callosum Agenesis: Case Report and Review of Literature. J Pediatr Hematol Oncol. 2017;39:e381-e387 pubmed publisher..This report is the first to allude to a possible interaction of the mismatch repair system with DICER1 to cause corpus callosum agenesis. ..
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