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De novo partial 2p duplication with postmortem description |
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| Authors: | Peter K. A. Genes John M. Opitz |
| Abstract: | A new syndrome characterized by sensorineural hearing loss (beginning in early infancy), progressive optic nerve atrophy, and dementia (beginning in adult-hood) is described in 3 males in the same family. This is probably an X-linked recessive trait. |
| Keywords: | dementia nerve deafness optic nerve atrophy X-linked recessive trait |