Due to the absence of systematic epidemiologic investigations, the precise prevalence of AHDS remains unknown[2] although it is believed to affect <1 in 1,000,000 individuals, predominantly males.[8] A study by Li et al, utilizing exome sequencing in children diagnosed with “cerebral palsy,” identified the SLC16A2 variant,[10] suggesting potential cases of AHDS disguised as cerebral palsy. Here, SLC16A2 is linked to Allan-Herndon-Dudley syndrome.