Professionals

Luscan-Lumish syndrome is characterized by mild to severe intellectual disability, behavioural abnormalities, such as autism spectrum disorder, with overgrowth and macrocephaly.

RAPAS has been associated with profound intellectual disability, microcephaly, failure to thrive, and multiple congenital anomalies.

Additionally, there are some affected individuals who have developmental delays/ intellectual disability with normal growth without multiple congenital anomlies.

SETD2-NDD is rare and has been reported in the medical literature in less than 35 individuals worldwide. SETD2-releated disorder is inherited in an autosomal dominant pattern. It usually results from a de novo mutation, although inheritance from a parent who is mosaic for the variant has been described.