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Phelan-McDermid Syndrome

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Phelan-McDermid Syndrome 1.6

Phelan McDermid Syndrome (PMS) version 1.6 released new iPSCs from 34 subjects already present in the Phelan McDermid Syndrome (PMS) collection, generated by a secondary investigator (Ilyas Singec). Those records are now cross-listed in the iPSC distribution and supplemental files. Detailed information regarding these iPSCs can be found in the Additional Files section on the iPSC download page. The distribution total is 165 subjects, 134 with DNA available.

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.