Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 (IHPRF3)

Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3, also known as ihprf3, is related to hypertelorism and macroglossia. An important gene associated with Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 is TBCK (TBC1 Domain Containing Kinase). Affiliated tissues include brain and skeletal muscle, and related phenotypes are neonatal hypotonia and severe muscular hypotonia