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Severe mental deficiency, proportionate dwarfism, and delayed sexual maturation

A distinct inherited syndrome


Two 46,XY brothers were found to have a previously undescribed syndrome characterized by severe mental deficiency, proportionate dwarfism, and delayed sexual development. A recessive mode of inheritance, either autosomal or X-linked, is assumed.

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Cantú, J.M., Sánchez-Corona, J., García-Cruz, D. et al. Severe mental deficiency, proportionate dwarfism, and delayed sexual maturation. Hum Genet 56, 231–234 (1980).

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  • Internal Medicine
  • Metabolic Disease
  • Sexual Maturation
  • Sexual Development
  • Mental Deficiency