A familial syndrome characterized by peculiar facies, small stature, chromosomal aberrations and aminoacriduria.
D000015:Abnormalities, Multiple / Q000235:genetics; D000741:Anemia, Aplastic / Q000235:genetics; D001827:Body Height; D002648:Child; D002869:Chromosome Aberrations; D003241:Consanguinity; D005145:Face; D005260:Female; D006801:Humans; D007136:Immunoglobulins / Q000032:analysis; D007484:Iowa; D007938:Leukemia / Q000235:genetics; D008297:Male; D009426:Netherlands / Q000208:ethnology; D010375:Pedigree; D000608:Renal Aminoacidurias / Q000235:genetics*; D013577:Syndrome; D013736:Testicular Neoplasms / Q000235:genetics; D013953:Thymus Neoplasms / Q000235:genetics; D009396:Wilms Tumor / Q000235:genetics; D014983:Xeroderma Pigmentosum / Q000235:genetics
D007136:Immunoglobulins