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| Disease found: | ZC4H2-Associated Rare Disorders (ZARD) |
| Current as of: | October 8, 2024 |
| Disease Overview: | Ultra-rare genetic condition with central and peripheral nervous system involvement caused by harmful mutations of the ZC4H2 gene. [more info] |
| Signs and Symptoms: | Contractures and deformities of foot joints, muscle degeneration, mild intellectual disability, spasticity, and seizures. [more info] |
| Diagnosis: | Genetic analysis showing ZC4H2 gene deletion [more info] |
| Treatment: | Symptomatic care |
| Clinical Management: | Symptomatic care |
| Referral: | Medical team of internists and pediatricians should include a genetic counselor. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | None is available, but can sign up to be notified when one becomes available |