The association of Blackfan-Diamond syndrome, physical abnormalities, and an abnormality of chromosome 1.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000741:Anemia, Aplastic / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002900:Chromosomes, Human, 1-3; D004913:Erythrocytes, Abnormal; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male