First Insights Into the Phenotype and Genotype of Inherited Retinal Disorders in the Democratic Republic of Congo (DRC) Purpose/Introduction Inherited retinal disorders (IRD) are a highly heterogeneous group of retinal diseases often characterized by progressive bilateral degeneration of rod and cone photoreceptors. ...

An Early View: Can #AI support #dysmorphology in low-resource settings?

A newly published study evaluates D-Score, a facial analysis tool, in children with developmental disorders—showing strong diagnostic potential in DR Congo & Belgium.

onlinelibrary.wiley.com/doi/10.1111/...

Already had very interesting talks in the #Paleogenomics session and saw interesting (unsolved) clinical cases at the #dysmorphology workshop. Now on to the plenary opening…

#ESHG2024 #HumanGenetics #juhumgen #ESHG