CLINICAL CHARACTERISTICS: Ceramide transporter (CerTra) syndrome is characterized by a spectrum of developmental delay, intellectual disability, neurobehavioral abnormalities (autism spectrum disorder, attention-deficit/hyperactivity disorder, self-injurious behavior), hypotonia, infant feeding difficulties, seizures, and brain abnormalities (most commonly involving white matter). Some individuals have poor weight gain, microcephaly, and developmental regression (predominantly affecting speech)….
