What is TMCO1 defect syndrome? Understanding the Rare Genetic Disorder
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4 min read
Identified in 2010, TMCO1 defect syndrome is a rare autosomal recessive condition characterized by distinctive craniofacial features, intellectual disability, and skeletal anomalies. The disorder stems from mutations in the TMCO1 gene, which are known to cause significant developmental issues by disrupting fundamental cellular processes.
