Arthrogryposis, distal, type 2B3
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Sign InDescription
Distal arthrogryposis type 2B3 (DA2B3) is characterized by facial dysmorphism and congenital joint contractures with predominantly distal involvement. Some patients exhibit muscle weakness (Tajsharghi et al., 2008). Considerable inter- and intrafamilial variability has been reported (Xu et al., 2018).
Mode of Inheritance
- Autosomal dominant inheritance
VARIANTS
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