However, mutations in the AP3D1 gene are associated with Hermansky–Pudlak syndrome type 10 (HPS10), but there is a lack of oculocutaneous albinism, neurologic disorders, bleeding diathesis from platelet granule deficiency, and lack of any pathogenic HPS10 gene variants, since our patient had a variant in AP3D1, not homozygous mutation [8]. Here, AP3D1 is linked to nervous system disorder.