New ocular findings in a patient with a novel pathogenic variant in the FBXO11 gene.

Abstract excerpt

Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) is a recently described autosomal dominant entity caused by pathogenic variants, mostly de novo, in the FBXO11 gene. It presents in the first years of life with highly variable clinical manifestations. The main features of IDDFBA include borderline-to-severe intellectual disability, behavioral problems, hypotonia,...

Topics

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• Eye Abnormalities
• F-Box Proteins
• Intellectual Disability
• Muscle Hypotonia
• Phenotype