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Phelan-McDermid Syndrome

Phelan-McDermid Syndrome 1.4

Distribution 1.4 for Phelan-McDermid Syndrome (PMS) includes data from Study 115 (PI: Hallmayer), with 165 subjects from 55 families.

Standard Data & Documentation

  • Distribution Bundle [ or ]: Standard files across disorders, containing demographic, diagnostic, and pedigree information. RUCDR sample IDs (cell_id) and consent level are also provided. Bundle includes data dictionaries and change notes.
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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

  • 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.