A: The variant NC_000021.9:g.37486563C>T in gene DYRK1A is classified as 'Pathogenic' for Microcephaly|Absent_or_delayed_speech_development|Intellectual_disability|Deeply_set_eye|Feeding_difficulties|not_provided|Global_developmental_delay|Microphthalmia|Generalized-onset_seizure|Inborn_genetic_diseases|DYRK1A-related_intellectual_disability_syndrome. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563|MedGen:C3276611|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|Human_Phenotype_Ontology:HP:0000490,Human_Phenotype_Ontology:HP:0000663,MONDO:MONDO:0001210,MedGen:C0423224|Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466|MedGen:C3661900|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:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010|Human_Phenotype_Ontology:HP:0002197,Human_Phenotype_Ontology:HP:0002409,Human_Phenotype_Ontology:HP:0007114,Human_Phenotype_Ontology:HP:0007339,MedGen:C0234533|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013578,MedGen:C5568143,OMIM:614104,Orphanet:464306. Review status: criteria provided, multiple submitters, no conflicts.