Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis-1 (NEDFET1) is an autosomal recessive disorder characterized by profound neurodevelopmental impairment, microcephaly, pathognomonic craniofacial features, ectodermal defects, and tetraparesis (Salpietro et al., 2024). Also see Jaberi-Elahi Syndrome (JABELS; 617988), a similar disorder caused by mutation in the GTPBP2 gene (607434). [from OMIM]