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.
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0015770
congenital hypogonadotropic hypogonadism
is_a
BAM syndrome
exact
BAMS
exact
Bosma Arhinia Microphthalmia Syndrome
exact
Bosma Henkin Christiansen syndrome
exact
Bosma arhinia microphthalmia syndrome
exact
Bosma arhinia-microphthalmia syndrome
exact
Bosma syndrome
exact
Bosma-Henkin-Christiansen syndrome
exact
Gifford-Bosma syndrome
exact
Ruprecht Majewski syndrome
exact
arhinia choanal atresia microphthalmia
exact
arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism
exact
arrhinia-choanal atresia-microphthalmia syndrome
exact
congenital absence of nose and anterior nasopharynx
related
hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
exact