Mutation of TBC1 Domain containing kinase (TBCK) with associated intellectual disability and hypotonia

Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies-3 (IHPRF-3) Syndrome is a rare pathology occurring due to mutations in the TBC1 domain containing kinase (TBCK). This neurodevelopmental disorder presenting neurological dysmorphic feature including intellectual disability, limb craniofacial abnormalities. We present case of TBCK mutation variant (p.Gln164*), on Exon 6; this sequence change creates premature translational stop signal (p.Gln164*) TBCK, creating disrupted protein leading loss function. has not yet been reported genetic databases. need establish better understanding by reporting these novel so that complex patients can be successfully managed multidisciplinary teams. Keywords: hypotonia, Intellectual Gene mutation.