Hypomyelinating Leukodystrophy-18

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the DEGS1 gene, encoding sphingolipid delta(4)-desaturase DES1. It is characterized by the onset of global developmental delay usually in early infancy. Affected individuals may also have poor psychomotor development, poor or absent speech, dystonia, and spasticity.

**Synonyms:** - HLD18