One patient with CHMP1A (frameshift, c.128_129dup) displayed with consanguinity, microcephaly, development delay, regression, seizure, intellectual disability, brainstem findings (hyperacusis, ptosis), cerebellar deficits (nystagmus, intentional tremor), visual abnormality (decreased visual acuity, blurry vision), tetraplagia, axial hypotonia and distal hypertonia, spastic gait disorder, cardiovascular (patent ductus arteriosus, patent foramen ovale), musculoskeletal (pes ecinovarus) findings, EEG, and VEP/ERG abnormalities. Here, CHMP1A is linked to Intellectual disability.