Goitrous cretinism with chromosomal aberration and defect in thyroglobulin synthesis.
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors; D002850:Chromatography, Gel; D002869:Chromosome Aberrations / Q000150:complications*; D025063:Chromosome Disorders; D003409:Congenital Hypothyroidism / Q000150:complications*; D004105:Diiodotyrosine / Q000652:urine; D006042:Goiter / Q000150:complications*; D006801:Humans; D005779:Immunodiffusion; D007457:Iodine Radioisotopes; D008297:Male; D009030:Mosaicism; D013954:Thyroglobulin / Q000096:biosynthesis*; D013960:Thyroid Function Tests; D013974:Thyroxine / Q000097:blood; D014284:Triiodothyronine / Q000097:blood; D014443:Tyrosine / Q000097:blood; D014461:Ultracentrifugation
D007457:Iodine Radioisotopes; D014284:Triiodothyronine; D014443:Tyrosine; D004105:Diiodotyrosine; D013954:Thyroglobulin; D013974:Thyroxine