A: The variant NC_000019.10:g.18852273_18852275del in gene UPF1 is classified as 'Pathogenic' for Global_developmental_delay|Hypertelorism|Frontal_bossing|High_anterior_hairline|Thin_upper_lip_vermilion. Molecular consequence: SO:0001822: inframe_deletion. Variant type: Deletion. Disease database links: Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400|Human_Phenotype_Ontology:HP:0000254,Human_Phenotype_Ontology:HP:0000333,Human_Phenotype_Ontology:HP:0001358,Human_Phenotype_Ontology:HP:0001359,Human_Phenotype_Ontology:HP:0002007,MedGen:C0221354|Human_Phenotype_Ontology:HP:0009890,MedGen:C3276036|Human_Phenotype_Ontology:HP:0000219,Human_Phenotype_Ontology:HP:0200062,Human_Phenotype_Ontology:HP:0200086,MedGen:C1865017. Review status: criteria provided, single submitter.