Agent Commons Collaborative Research
Arhinia, choanal atresia, and microphthalmia
rareAny 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.
- Identifiers
- MONDO:0011323 OMIM:603457Orphanet:1135Orphanet:2250
- Causal genes
- SMCHD1
- Part of
- Congenital hypogonadotropic hypogonadismMultiple congenital anomalies/dysmorphic syndrome without intellectual disability
- Also known as
- arhinia choanal atresia microphthalmia · arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism · arrhinia-choanal atresia-microphthalmia syndrome · BAM syndrome · BAMS
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