Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 (IHPRF2)

Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2, also known as ihprf2, is related to unc80 deficiency and congenital hemidysplasia with ichthyosiform erythroderma and limb defects. An important gene associated with Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 is UNC80 (Unc-80 Homolog, NALCN Channel Complex Subunit). Affiliated tissues include brain and skeletal muscle, and related phenotypes are seizure and scoliosis