Since the initial report by Oegema et al. [4], additional cases have confirmed the association of biallelic INTS1 variants with a rare autosomal recessive neurodevelopmental disorder [9,10,11], now listed in the OMIM database as Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies (NDCAGF; #620148), although its phenotypic spectrum still appears to be incompletely defined. The gene discussed is INTS1; the disease is cataract.