WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females.

Abstract excerpt

Pathogenic variants of WD repeat domain 45 (WDR45) cause neurodegeneration with brain iron accumulation 5 (NBIA5), which is characterised by progressive neurological regression and brain iron accumulation in adulthood. Early diagnosis of NBIA5 patients is difficult because they often show only a non-specific developmental delay in childhood, but it is essential for lifelong medical management. We investigated 32...

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• Carrier Proteins
• Developmental Disabilities
• Infant
• Intellectual Disability
• Iron Metabolism Disorders