Pathogenic variants of the zinc finger MIZ-type containing 1 (ZMIZ1, OMIM#607159) could cause the occurrence of a rare syndromic disease, neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) with an autosomal dominant (AD) mode of inheritance. The gene discussed is ZMIZ1; the disease is neurodevelopmental disorder.