Further Delineation of the De Santo Shinawi Syndrome Phenotype Using a Series of Individuals Carrying a Pathogenic Variant of the WAC Gene

RecruitingOBSERVATIONAL
Enrollment

50

Participants

Timeline

Start Date

November 7, 2024

Primary Completion Date

November 30, 2027

Study Completion Date

November 30, 2027

Conditions
WACDeSanto-Shinawi SyndromeDESSHWAC SYNDROMEOMIM#616708ORPHA:466943
Trial Locations (1)

63000

RECRUITING

Clermont-Ferrand University Hospital, Clermont-Ferrand

All Listed Sponsors
lead

University Hospital, Clermont-Ferrand

OTHER