Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder

A. Chaudhry, A. Noor, B. Degagne, K. Baker, L. A. Bok, A. F. Brady, D. Chitayat, B. H. Chung, C. Cytrynbaum, D. Dyment, I. Filges, B. Helm, H. T. Hutchison, L. J. B. Jeng, F. Laumonnier, C. R. Marshall, M. Menzel, S. Parkash, M. J. Parker, L. F. RaymondA. L. Rideout, W. Roberts, R. Rupps, I. Schanze, C. T. R. M. Schrander-Stumpel, M. D. Speevak, D. J. Stavropoulos, S. J. C. Stevens, E. R. A. Thomas, A. Toutain, S. Vergano, R. Weksberg, S. W. Scherer, J. B. Vincent, M. T. Carter*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)224-233
JournalClinical Genetics
Issue number3
Publication statusPublished - Sep 2015


  • autism spectrum disorder
  • intellectual disability
  • phenotype
  • PTCHD1
  • X-linked

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