Female-Restricted Wieacker-Wolff Syndrome

Preferred Label : Female-Restricted Wieacker-Wolff Syndrome;

NCIt synonyms : WRWFFR;

NCIt 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.;

NCI Metathesaurus CUI : CL1639541;

Details

Origin ID

C198578;

Currated CISMeF NLP mapping
- Wieacker-wolff syndrome, female-restricted [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]

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