Neurodegeneration with Brain Iron Accumulation 5

**Semantic type:** Disease or Syndrome

**Definition:** An X-linked dominant condition caused by mutation(s) in the WDR45 gene, encoding WD repeat domain phosphoinositide-interacting protein 4. it is characterized by global developmental delay in early childhood, and subsequent dystonia and dementia in young adulthood.

**Synonyms:** - BPAN - Beta-propeller Protein-associated Neurodegeneration - NBIA5