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Features include always present findings: Posteriorly rotated ears. 49 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 9 | Inability to walk, Absent speech, Dysarthria |
Muscles |
ZC4H2 function has not been fully characterized.
Wieacker-Wolff syndrome, female-restricted is associated with mutations in the ZC4H2 gene on chromosome X.
Genetic testing for ZC4H2 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature.
No clinical trials have been registered for Wieacker-Wolff syndrome, female-restricted.
2 publications have been identified in PubMed for Wieacker-Wolff syndrome, female-restricted. Research spans Review / Meta-Analysis (50%) and Epidemiology / Natural History (50%).
van de Velde S (2026). [PMID: 41077824](https://pubmed.ncbi.nlm.nih.gov/41077824/). *Clin Genet*. [Review / Meta-Analysis]
Arkar Silan U (2025). [PMID: 40771987](https://pubmed.ncbi.nlm.nih.gov/40771987/). *Front Neurol*. [Epidemiology / Natural History]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:44 AM UTC
Online Mendelian Inheritance in Man
Common questions about Wieacker-Wolff syndrome, female-restricted
7
Achilles tendon contracture, Flexion contracture, Hip contracture |
Head and neck | 5 | U-Shaped upper lip vermilion, Cleft palate, Microcephaly |
Digestive system | 2 | Feeding difficulties, Difficulty swallowing (dysphagia) |
Arms and legs | 2 | Radial deviation of the hand, Rocker bottom foot |
Eyes | 2 | Oculomotor apraxia, Ptosis |
Bones and joints | 2 | Sideways curvature of the spine (scoliosis), Excessive outward curvature of the upper spine (kyphosis) |
Growth and development | 1 | Short stature |
Kidneys and urinary system | 1 | Urinary incontinence |
Pregnancy and birth | 1 | Fetal akinesia sequence |