Hypomyelinating Leukodystrophy-22

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by mutation(s) in the CLDN11 gene, encoding claudin-11. It is characterized by global developmental delay, mild impaired intellectual development, limited ability to walk, and hypomyelinating leukodystrophy on MRI.

**Synonyms:** - HLD22