A: The variant NC_000019.10:g.49142976C>T in gene PPFIA3 is classified as 'Pathogenic/Likely_pathogenic' for PAUL-CHAO_NEURODEVELOPMENTAL_SYNDROME|not_provided|Neurodevelopmental_delay. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN379174,OMIM:621122|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738. Review status: criteria provided, multiple submitters, no conflicts.