Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures (NEDDFAS)

Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures, is also known as neddfas. An important gene associated with Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures is EMC10 (ER Membrane Protein Complex Subunit 10). Affiliated tissues include brain and eye, and related phenotypes are nystagmus and global developmental delay