Arhinia, choanal atresia, and microphthalmia

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.

Also known as: BAMS, Bosma Arhinia Microphthalmia Syndrome, Bosma Henkin Christiansen syndrome, Bosma arhinia microphthalmia syndrome, Bosma arhinia-microphthalmia syndrome, Bosma-Henkin-Christiansen syndrome, arhinia choanal atresia microphthalmia, arrhinia-choanal atresia-microphthalmia syndrome

1 clinical trial for this condition and its sub-types, 1 tagged with Arhinia, choanal atresia, and microphthalmia itself.