The patient presented with two compound heterozygous variants c.1711_1712del; p.(Ala571ProfsTer8) and c.2755G > C; p.(Gly919Arg) in LAMA1. Bi-allelic mutation in LAMA1 causes a cerebellar dysplasia syndrome named as Poretti-Boltshauser syndrome (PBS) (MIM# 615960) [37]. Here, LAMA1 is linked to Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome.