Notably, the disruption of the NALCN gene is associated with two distinct conditions: the autosomal dominant CLIFAHDD syndrome and the recessive IHPRF1 (OMIM #615419), which presents with infantile hypotonia, psychomotor retardation, and characteristic facial features. The gene discussed is NALCN; the disease is congenital contractures of the limbs and face, hypotonia, and developmental delay.