A: The variant NC_000020.11:g.50892526G>A in gene ADNP is classified as 'Pathogenic/Likely_pathogenic' for Inborn_genetic_diseases|Global_developmental_delay|Decreased_response_to_growth_hormone_stimulation_test|Abnormality_of_the_dentition|Stereotypic_movement_disorder|Aggressive_behavior|Hypothyroidism|Seizure|Corpus_callosum,_agenesis_of|ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder|not_provided. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MeSH:D030342,MedGen:C0950123|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:0000824,Human_Phenotype_Ontology:HP:0000861,Human_Phenotype_Ontology:HP:0008195,Human_Phenotype_Ontology:HP:0008206,MedGen:C5539399|Human_Phenotype_Ontology:HP:0000164,Human_Phenotype_Ontology:HP:0001567,Human_Phenotype_Ontology:HP:0006296,Human_Phenotype_Ontology:HP:0006348,MedGen:C0262444|MONDO:MONDO:0002265,MedGen:C0038273|Human_Phenotype_Ontology:HP:0000718,Human_Phenotype_Ontology:HP:0006919,MedGen:C0001807|Human_Phenotype_Ontology:HP:0000821,Human_Phenotype_Ontology:HP:0003222,Human_Phenotype_Ontology:HP:0008203,MONDO:MONDO:0005420,MedGen:C0020676|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200|MONDO:MONDO:0014379,MedGen:C4014538,OMIM:615873,Orphanet:404448|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.