Arthrogryposis multiplex congenita-7 (AMC7) is an X-linked recessive disorder characterized by the development of joint contractures in utero. Affected fetuses may also have subcutaneous edema and dysmorphic facial features. Pregnancies with affected fetuses detected by prenatal ultrasound are usually terminated due to the severity of the disorder (Tamhankar et al., 2021).
For a discussion of genetic heterogeneity of AMC, see AMC1 (617468). [from OMIM]
Also known as: AMC7, CXorf3, MRX12, MRX35, THO2, XLID12, dJ506G2.1, hTREX120, THOC2
Summary: THO complex subunit 2
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