First Report of Mexican Patients with -Related Neurodevelopmental Disorder and Review of the -, -, and -Related Ophthalmological Manifestations.

Introduction: -related neurodevelopmental disorder (related NDD) is caused by pathogenic variants in the gene and is characterized by a distinctive facial appearance, intellectual disability, speech delay, seizures, feeding difficulties, cryptorchidism, hernias, and structural anomalies of the brain, heart, eye, and kidney. There is a marked facial resemblance and a common multisystem affectation with patients carrying pathogenic variants in the and genes, although they vary in terms of severity and eye involvement.

Case Presentation: Here, we describe 4 individuals with -related NDD from Mexico, all of them carrying a de novo variant c.