As of 2025, and since the initial description of the syndrome in 2004, eight affected individuals have been reported. At least six of them exhibit severe to profound global neurodevelopmental delay, detectable before the age of two years and often associated with hypotonia.
Epilepsy developed in at least four patients during childhood, most commonly within the first year of life. In at least three cases, the epilepsy was drug-resistant. Early-onset visual impairment due to macular or chorioretinal atrophy has been documented in at least five individuals. Growth retardation has been reported in at least six patients. Severe scoliosis was noted in at least four individuals.
Additional, less frequent features have also been reported, although without confirmed causal association with the genetic defect: chronic liver cytolysis with hepatic insufficiency, nephrocalcinosis, and coarctation of the aorta.
This is an ultra-rare disease. Transmission is, to date, exclusively autosomal recessive, caused by biallelic loss-of-function variants in the ATIC gene.