Phelan-McDermid Syndrome 1.6
The Phelan-McDermid Syndrome (PMS) Distribution v1.6 was published on 2023-04-10. There are 165 subjects, 134 of whom have at least one biosample on record at the repository. The PMS collection includes 1 family study.
Standard Data & DocumentationDownload All
- Distribution Bundle [text or excel]: Standard files across disorders, containing demographic, diagnostic, and pedigree information. Sampled (formerly IBX) sample IDs (nrgr_bio_id) and consent level are also provided. Bundle includes data dictionaries.
- Study Descriptions.
- Pedigree Drawings.