Among them, biallelic pathogenic variants in TBCK (TBC1 domain containing kinase) have been shown to cause infantile hypotonia with psychomotor retardation and characteristic-facies 3 (IHRPF3, OMIM#616900), a severe early onset encephaloneuropathy mainly characterized by developmental delay, hypotonia, and facial dysmorphisms (Bhoj et al., 2016; Chong et al., 2016; Sumathipala et al., 2019). The gene discussed is TBCK; the disease is Global developmental delay.