Facial involvement was also observed (e.g., glutaric aciduria type 1, mitochondrial ATP synthase F0 subunit 6 deficiency, OPA3 deficiency, metachromatic leukodystrophy, 6-pyruvoyl-tetrahydropterin synthase deficiency and hereditary ceruloplasmin deficiency), often in combination with other regions such as the limbs, trunk, or neck. Here, OPA3 is linked to metachromatic leukodystrophy.