A: The variant NC_000022.11:g.42211702dup in gene TCF20 is classified as 'Pathogenic' for Pectus_excavatum|Intellectual_disability,_moderate|Generalized_hypotonia|Failure_to_thrive|Ptosis. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: Human_Phenotype_Ontology:HP:0000767,Human_Phenotype_Ontology:HP:0006613,Human_Phenotype_Ontology:HP:0006617,MONDO:MONDO:0008213,MedGen:C2051831,OMIM:169300|Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351|Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120|Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100|Human_Phenotype_Ontology:HP:0000508,MONDO:MONDO:0000728,MedGen:C0005745. Review status: criteria provided, single submitter.