His clinical diagnosis could possibly be confounded by the likely presence of two molecular diagnoses: compound heterozygous variants in GLDC and an inherited frameshift variant in TCOF1, a gene associated with Treacher Collins syndrome-1 (OMIM #154500) and possibly responsible for the down-slanting eyes, everted lateral eyelids, and malar hypoplasia. Here, GLDC is linked to Treacher Collins syndrome 1.