Aminoacylase 1 deficiency has a broad and variable clinical spectrum which differs widely between affected individuals. Reported clinical characteristics include (sometimes in single individuals only):
• Seizures
• Developmental delay
• Intellectual disability
• Speech delay
• Hypotonia
• Bradycardia
• Autism spectrum behaviour
• Microcephaly
• Sensorineural hearing deficit
• Speech delay
• Dystonia
ACY1