Likewise, oculocutaneous albinism type IA (OMIM#203100; N = 6/30; 20%), congenital hearing loss due to biallelic GJB2 gene variant (OMIM#220290; N = 8/29; 27.6%), retinitis pigmentosa (N = 5/20; 25%) and congenital adrenal hyperplasia (CAH) (OMIM#201910; N = 16/20; 80%) represented the highest cases under the dermatological, congenital deafness, ophthalmic and endocrine groups, respectively. The gene discussed is GJB2; the disease is oculocutaneous albinism type 1A.