Recommended Phenotypes Panel

integrating Deep phenotyping with genetic analysis for Rare disease Evaluation And Measurement Strategies

1. Specific phenotypes 2. Minor indications 3. Beyond common phenotypes 4. Quantitative phenotypes 5. Mosaic findings

6. Familial phenotyping 7. Prenatal phenotyping 8. Dynamic phenotyping 9. Dual molecular diagnosis

Feedback Box

Issues / Questions

Recommendations / Suggestions

Other Comments

We acknowledge all feedback from experts all over the world:

Ying S. Zou from Johns Hopkins University School of Medicine.

Christian Marshall, Anna Szuto and Yiming Wang from Hospital for Sick Children (SickKids).

Notes:

We will regularly update and add relevant phenotypes in these nine strategic categories based on the references/resources. If you have some suggestion or recommended phenotypes, please contact: dr.wunan@pumch.cn or guozhuang_li@outlook.com.