NTAN1 and neurodevelopmental disorder: 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.