NEDFASB is characterized by cerebral malformations, seizures, global developmental delay, moderate-to-severe intellectual disability, and severe sleep disturbance such as night walking. Individuals are moderately short, and some have microcephaly. All individuals showed disruptive behavior. Facial dysmorphism such as round face, flat facial profile, depressed nasal bridge, downturned corners of the mouth, and prognathism are common. Cleft or high-arched palate can also be seen. Individuals present with genitourinary anomalies such as cryptorchidism, hypospadias, horseshoe kidney, and vesico-ureteral reflux. On imaging, cerebellar atrophy and anomalies of the corpus callosum can be seen.
KAT5