A: The variant NC_000022.11:g.38716788A>G in gene GTPBP1 is classified as 'Pathogenic' for Neurodevelopmental_disorder_with_characteristic_facial_and_ectodermal_features_and_tetraparesis_1. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0975745,MedGen:C5975340,OMIM:620888. Review status: no assertion criteria provided.