Clinical Characteristics

NEDFASB is characterized by brain malformations, seizures, global developmental delay (delay in learning skills compared to other children) particularly language delay or absent language, moderate-to-severe intellectual disability, and severe sleep disturbance such as night walking. Individuals are moderately short, and some have small head. All individuals showed uncooperative or defiant behaviour. Facial dysmorphism (abnormal differences in face structure) are common. Individuals present with genitourinary anomalies. On imaging, brain anomalies can be seen.