Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation associated with KIF11 pathogenic variant: case report and genotype-phenotype correlation analysis.

Abstract excerpt

BACKGROUND: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) is a rare autosomal dominant disease caused by variants in the KIF11 gene. Additionally, recent advances in genetic testing have led to the increasing identification of KIF11 gene variants in FEVR patients. Harboring similar point variants in the KIF11 gene, patients exhibit striking variability in clinical...

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