Published data, particularly the cohort described by Pan et al., indicate that pathogenic FRYL variants are usually associated with more severe phenotypes, including developmental delay/intellectual disability, central nervous system anomalies, psychiatric conditions, dysmorphic features, shortened long bones (mesomelia), as well as cardiovascular, genitourinary, gastrointestinal, and ocular anomalies [7]. This evidence concerns the gene FRYL and Global developmental delay.