Patients with phenotypic abnormalities reflected in imaging data, such as facial dysmorphic signs, and with suspected rare underlying genetic disease as the cause should be included.
Conditions
Interventions
Group 1: Patients with phenotypic abnormalities reflected in image data, such as facial dysmorphic signs, and with suspected rare underlying genetic disease should be included in the study.
Medical im
Sponsors
Institut für Humangenetik und Genommedizin Uniklinik RWTH Aachen
Eligibility
Sex/Gender
All
Age
7 Years to No maximum
Inclusion criteria
Inclusion criteria: Patients with phenotypic abnormalities reflected in imaging data, such as facial dysmorphic signs, and with suspected rare underlying genetic disease as the cause will be included.
Exclusion criteria
Exclusion criteria: If there are no phenotypic abnormalities or no patient consent, inclusion in the study is not possible.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The aim of the study is to investigate and improve the quality of currently available image analysis methods. To this end, approximately 150 patients per year, in total approx. 750 patients to be included in the study. | — |
Countries
Germany
Contacts
Public ContactMiriam Elbracht
Institut für Humangenetik und Genommedizin Uniklinik RWTH Aachen
Outcome results
None listed