Ruhi Shah

An Adult Presentation of KIF11 ‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42-year-old female presenting with a de novo single-amino ac...