TCF7L2-related neurodevelopmental disorder

A neurodevelopmental disorder caused by a variation in the TCF7L2 gene. This disorder is characterised by speech delay, craniofacial dysmorphism, ophthalmologic conditions including myopia, autism, intellectual disability, attention deficit hyperactivity disorder, and orthopaedic abnormalities. Phenotypic severity is variable and does not cluster by variant type or genomic locus.