Interestingly, whilst the patient referred for attention difficulties, speech delay and dysmorphic features also harboured a maternally inherited, putatively pathogenic duplication, affecting part of the IL1RAPL1 gene (Xp21.2), the patient with a specific diagnosis of ASD and learning difficulties did not carry any additional genomic imbalance, which could suggest the involvement of the NTAN1 gene in the aetiology of the neurodevelopmental disorder. The gene discussed is IL1RAPL1; the disease is neurodevelopmental disorder.