label: Succinic Semialdehyde Dehydrogenase Deficiency
label_lc: succinic semialdehyde dehydrogenase deficiency
description: An autosomal recessive condition caused by mutation(s) in the ALDH5A1 gene, encoding succinate-semialdehyde dehydrogenase, mitochondrial. It is characterized by intellectual disability, developmental delay, and hypotonia.