Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2018 Dec 20;21(8):1719–1725. doi: 10.1038/s41436-018-0404-y

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

© The Author(s) 2018

Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License, which permits any non-commercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. If you remix, transform, or build upon this article or a part thereof, you must distribute your contributions under the same license as the original. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/.

PMC Copyright notice

Fig. 1 — Distribution of the hybrid facial features in the PACS1, PPM1D, and PHIP data sets. The t-distributed stochastic neighbor embedding (t-SNE) plots of the (a) PACS1, (b) PPM1D, and (c) PHIP data set analyzed using our novel hybrid model show that faces of patients with the same novel intellectual disability (ID) syndrome are located close together within a group of age-, gender-, and ethnicity-matched controls. Four individuals with a missense variant of uncertain significance in the PHIP gene are compared with 12 individuals with a presumed loss-of-function variant in PHIP, showing significant similarity to the PHIP facial phenotype for individuals A and D.