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Phelan-McDermid Syndrome

Meaning

Phelan-McDermid Syndrome is a rare, complex neurodevelopmental disorder caused by a deletion or mutation on the distal long arm of chromosome 22, specifically involving the SHANK3 gene. The syndrome is clinically characterized by neonatal hypotonia, global developmental delay, absent or severely delayed speech, and features of autism spectrum disorder. While primarily neurological, the phenotype often includes associated systemic issues, placing it within the scope of hormonal and metabolic health.