Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 (IHPRF1)

Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1, also known as ihprf1, is related to hypotonia-speech impairment-severe cognitive delay syndrome and hypotonia, infantile, with psychomotor retardation and characteristic facies 2, and has symptoms including constipation and abnormal pyramidal signs. An important gene associated with Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 is NALCN (Sodium Leak Channel, Non-Selective). Affiliated tissues include skeletal muscle and eye, and related phenotypes are seizure and developmental regression