Intellectual disability (ID) refers to deficits in mental abilities, social 
behavior, and motor skills to perform activities of daily living as compared to 
peers. Numerous genetic and environmental factors may be responsible for ID. We 
report on elucidation of molecular basis for syndromic ID associated with 
ptosis, polydactyly, and MRI features suggestive of Joubert syndrome using 
homozygosity mapping followed by exome sequencing. The analysis revealed a novel 
synonymous variation p.T293T (c.879G>A) which leads to a splicing defect in 
ARMC9 gene. The variant is present in conserved region of ARM domain of ARMC9 
protein, which is predicted to form a platform for protein interaction. This 
domain is likely to be altered in patient due to splicing defect caused by this 
synonymous variation. Our report of variant in ARMC9 Leading to Joubert syndrome 
phenotype (JS30), elucidates the genetic heterogeneity of Joubert syndrome, and 
expands the gene list for ciliopathies.