label: Mental Retardation, Autosomal Dominant 28
label_lc: mental retardation, autosomal dominant 28
description: An autosomal dominant condition caused by mutation(s) in the ADNP gene, encoding activity-dependent neuroprotector homeobox protein. It is characterized by impaired intellectual development, motor delay, autism spectrum disorder, facial dysmorphisms, hypotonia, congenital heart disease, visual difficulties, and gastrointestinal issues.