Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities (NEDFBA) is characterized by developmental delay with variably impaired intellectual development with speech delay, behavioral abnormalities, and nonrecurrent dysmorphic facial features. Additional features may include hypotonia, skeletal anomalies such as scoliosis or pectus defects, and visual problems such as strabismus and myopia (Bogaert et al., 2023). [from
OMIM]