SLC45A1-related disorder is rare with autosomal recessive inheritance. So far, five patients from three unrelated consanguineous families have been reported with homozygous SLC45A1 pathogenic variants and exhibit overlapping clinical features, mainly consisting of global developmental delay and intellectual disability, with variable presence of epilepsy, neuropsychiatric features, facial dysmorphisms, Dandy-Walker malformation and cardiac and renal anomalies.