Neurodevelopmental Disorder with Hypotonia, Impaired Language, and Dysmorphic Features (NEDHILD)

Neurodevelopmental Disorder with Hypotonia, Impaired Language, and Dysmorphic Features, also known as intellectual developmental disorder, autosomal dominant 40, formerly, is related to autosomal dominant intellectual developmental disorder 40. An important gene associated with Neurodevelopmental Disorder with Hypotonia, Impaired Language, and Dysmorphic Features is CHAMP1 (Chromosome Alignment Maintaining Phosphoprotein 1). Affiliated tissues include brain and lung, and related phenotypes are intellectual disability and high palate