label: arhinia, choanal atresia, and microphthalmia
label_lc: arhinia, choanal atresia, and microphthalmia
description: Any syndromic disease characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence that occurs due to variation in the SMCHD1 gene.