The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.

Amanda NagyFrancine MolaySarah HargadonClaudia Brito PiresNatalie GrantLizbeth De La Rosa AbreuJin Yun ChenPrecilla D'SouzaEllen MacnamaraCynthia TifftCatherine BeckerClaudio Melo De GusmaoVikram KhuranaAnn M NeumeyerFlorian S Eichler

Published in: Orphanet journal of rare diseases (2024)

TBL1XR1-related disorder encompasses a spectrum of clinical presentations, marked by early developmental delay ranging in severity, with a subset of patients experiencing developmental regression in later childhood.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
prognostic factors
genome wide
copy number
young adults
brain injury
patient reported