Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome.

Francesca Nardecchia Rosalba CarrozzoAlice InnocentiAlessandra TorracoValerio ZaccariaTeresa RizzaFrancesco PisaniEnrico BertiniVincenzo Leuzzi

Published in: Annals of clinical and translational neurology (2024)

Reviewed cases point toward clustering around two prevalent phenotypes: an early-onset presentation with severe fatal encephalopathy and a late milder presentation with global developmental delay/ID and cardiopathy, with the latter as, is the main feature. Our patients showed an intermediate phenotype with intrafamilial variability.

Keyphrases

early onset
end stage renal disease
newly diagnosed
chronic kidney disease
ejection fraction
late onset
prognostic factors
deep learning
single cell
intellectual disability
patient reported
neural network