FeaturedCase ReportMedical Genetics
Clinical manifestations of Armfield syndrome in females with heterozygous FAM50A variants and skewed X-chromosome inactivation.
Neurol SciOct 24, 2026Open access
A Spanish female patient presented with macrocephaly, global developmental delay, and leukoencephalopathy. Whole-exome sequencing identified a novel de novo heterozygous FAM50A variant, c.905 A > T (p.His302Leu).
Clinical pearl
Consider FAM50A-related MRXSA in females with developmental delay and compatible findings; RNA expression analysis can help assess the significance of a heterozygous variant and skewed X-chromosome inactivation.