Arhinia, choanal atresia, and microphthalmia
MONDO:0011323Any 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
11 clinical trials for this condition and its sub-types.
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Disease
(618)
Hereditary disease
(172)
Endocrine system disorder
(61)
Hypogonadism
(41)
Hereditary endocrine growth disease
(23)
Hypogonadotropic hypogonadism
(15)
Human disease
(14)
Reproductive system disorder
(13)
Developmental defect during embryogenesis
(7)
Disease of genetic or genomic mechanism
(2)