DEAF1-associated neurodevelopmental disorder

A neurodevelopmental disorder characterized predominantly by intellectual disability, speech delay, motor delay, autism, sleep disturbances, and a high pain threshold. This disorder may be inherited in an autosomal dominant or autosomal recessive manner, likely due to mono-allelic variant resulting in altered function and bi-allelic variants resulting in loss of function, respectively.

1 clinical trial for this condition and its sub-types, 0 tagged with DEAF1-associated neurodevelopmental disorder itself.