CA5A and Neurodevelopmental delay: A pathogenic homozygous loss of 16.5 kb (exons 3-7) in CA5A gene (chr16:87921735-87,938,510 NM_001739.2) was identified in all the three children with the parents and healthy siblings carrying the variant in heterozygous state.<h4>Conclusion</h4>CA-VA deficiency may present with non-specific neurodevelopmental delay without metabolic decompensation.