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Phelan-McDermid Syndrome

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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 & Documentation

  • Distribution Bundle [ or ]: 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.
  • .

Additional Data Files

Clinical Instruments

Other

  • Phenotypic Data [ or ] Includes demographics, diagnoses, body measurements, brain scan data, medical & developmental questionnaire data, and summary data from ADI-R, ADOS, Mullen, SRS instruments. Additional subjects for study 115 can be found in the iPSC collection.

Study 115 — Exploring the Neuronal Phenotype of Autism Spectrum Disorders Using iPSCs

  • Phenotypic Data [ or ] Includes demographics, diagnoses, body measurements, brain scan data, medical & developmental questionnaire data, and summary data from ADI-R, ADOS, Mullen, SRS instruments. Additional subjects for study 115 can be found in the iPSC collection.