A: The variant NC_000022.11:g.41141226A>T in gene EP300 is classified as 'Uncertain_significance' for Menke-Hennekam_syndrome_2|Intellectual_disability,_moderate|Primary_microcephaly|Synophrys|Hirsutism|Short_stature|Myopia|Hypotonia. Molecular consequence: SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0020769,MedGen:C5193035,OMIM:618333|Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351|Human_Phenotype_Ontology:HP:0011451,MedGen:C2677180|Human_Phenotype_Ontology:HP:0000664,Human_Phenotype_Ontology:HP:0002210,MedGen:C0431447|Human_Phenotype_Ontology:HP:0001007,MedGen:C0019572|Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588|Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700|Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827. Review status: criteria provided, single submitter.