Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar Hypoplasia (NEDFACH)

Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar Hypoplasia, is also known as nedfach. An important gene associated with Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar Hypoplasia is EXOC2 (Exocyst Complex Component 2). Affiliated tissues include cerebellum and brain, and related phenotypes are hypertelorism and flexion contracture