Pathogenic variants in the CERT1 cause a multisystem disorder centered on mental retardation. Not all individuals with a variant in the CERT1 gene have following phenotypes:
• Intellectual disability
• Motor delay
• Autism spectrum disorder
• Brain abnormalities
o Delayed myelination of the cerebrum
o Hypoplasia of the corpus callosum
o Leukodystrophy
• Seizure
• Failure to thrive
• Hypotonia
• Torticollis
• Scoliosis
CERT1