neurodegeneration with brain iron accumulation 5

info · Genetic · ICD-10: G23.0

A neurodegeneration with brain iron accumulation that has_material_basis_in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23.

Signs and symptoms

Dystonia
Rigidity
Mental deterioration
Cerebral atrophy
Delayed speech and language development
Global developmental delay
Iron accumulation in brain
Dementia
Seizure
Delayed ability to walk

Also known as: BPAN; Beta-Propeller Protein-Associated Neurodegeneration; NBIA5; SENDA; Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood