Succinic Semialdehyde Dehydrogenase Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - SSADHD