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Up to: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability · Congenital hypogonadotropic hypogonadism
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.
This condition has no sub-types.