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C198578Level 5

Female-Restricted Wieacker-Wolff Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An X-linked dominant condition caused by mutation(s) in the ZC4H2 gene, encoding zinc finger C4H2 domain-containing protein. It is characterized by neurogenic arthrogryposis resulting from decreased fetal movements. Additional features may include global developmental delay, peripheral neuropathy, and characteristic facies.

**Synonyms:** - WRWFFR

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