Bassam Al Hallak

A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.

A. Ekici, R. Abou Jamra, F. Bernier, 2014, American journal of human genetics.

Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain

D. Wieczorek, J. Altmüller, Yun Li, 2022, Clinical genetics.