Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome

RecruitingOBSERVATIONAL
Enrollment

60

Participants

Timeline

Start Date

August 27, 2022

Primary Completion Date

December 1, 2026

Study Completion Date

December 1, 2026

Conditions
Genetic DiseaseChopra-Amiel-Gordon SyndromeCAGSANKRD17
Interventions
OTHER

Observational Study

No intervention. This is an observational study

OTHER

Sample collection only

Collection of blood and/or skin samples.

Trial Locations (1)

02115

RECRUITING

Boston Children's Hospital, Boston

All Listed Sponsors
lead

Boston Children's Hospital

OTHER