Article

Mild Neurodevelopmental Disorder Due to SHMT2 Mutations: Expanding the Phenotypic Spectrum

2024-10-22

Abstract excerpt

<title>Abstract</title> <p>Biallelic mutations in <italic>SHMT2</italic> cause neurodevelopmental disorders with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB; OMIM: 619121). This recently described metabolic disorder are characterized by severe intellectual disability, microcephaly, spastic paraplegia, peripheral neuropathy, corpus callosum dysgenesis, facial and limb deformities, and progressive...

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Literature Corpus work: 755ac576-c0cf-5bb2-b869-e848baff8694
DOI: 10.21203/rs.3.rs-5035114/v1

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