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DOOR Syndrome | Rare Genetic Disorder - Glossary

Last Updated on Sep 20, 2018
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Glossary

Congenital: At birth

Onychodystrophy: Absence or reduced nail length

Osteodystrophy: Abnormal development of toes and fingers

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Sensorineural hearing loss: Hearing loss that occurs due to damage to the auditory nerve in the inner ear where the nerve transmits sound signals to the brain

Autosomal recessive: A term used to describe a gene on any chromosome other than the sex chromosomes, which produces its effect only when the gene is present in two copies; can also describe the effect of the gene itself

Triphalangy: An extra third bone in the thumb or the big toe

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