Hypotonia, Infantile, with Psychomotor Retardation (IHPMR)

Hypotonia, Infantile, with Psychomotor Retardation, also known as severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome, is related to hypotonia-speech impairment-severe cognitive delay syndrome and hypotonia, infantile, with psychomotor retardation and characteristic facies 1. An important gene associated with Hypotonia, Infantile, with Psychomotor Retardation is CCDC174 (Coiled-Coil Domain Containing 174), and among its related pathways/superpathways is Ion channel transport. Affiliated tissues include eye and brain, and related phenotypes are increased variability in muscle fiber diameter and global developmental delay