Decreased penetrance

Decreased penetrance

Individuals who inherit a changed disease gene but do not develop symptoms.
Mentioned in: Tourette Syndrome
Gale Encyclopedia of Medicine. Copyright 2008 The Gale Group, Inc. All rights reserved.
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Complex CDHs, which account for approximately 5% of cases of familial CDH, are often associated with midline fusion defects such as neural tube defects, cleft lip and palate, and omphalocele, e.g., Donnai-Barrow syndrome inherited in an autosomal recessive (AR) manner [5], Matthew-Wood syndrome [6], and an autosomal dominant (AD) disorder with decreased penetrance and/or variable expressivity with GATA4 or ZEP4 mutation [7, 8].

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