Patient S2 had a variant c.1340 C>T (p.Ala447Val) (“likely pathogenic” registered in ClinVar) and a previously reported variant c.3365 C>T (p.Pro1122Leu) (20) in TBCD, a gene linked to progressive encephalopathy with brain atrophy and thin corpus callosum (PEBAT, OMIM:617193). The gene discussed is TBCD; the disease is Brain atrophy.