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ENBosma Arhinia Microphthalmia Syndrome (BAMS)
Alias:
Arhinia, Choanal Atresia, Microphthalmia, and Hypogonadotropic Hypogonadism
Arhinia Choanal Atresia Microphthalmia
Bams
Hyposmia-Nasal and Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Arhinia, Choanal Atresia, and Microphthalmia
Arrhinia with Choanal Atresia and Microphthalmia Syndrome
Arhinia, Choanal Atresia, Microphthalmia, Bosma Type
Congenital Absence of Nose and Anterior Nasopharynx
Bosma Arhinia-Microphthalmia Syndrome
Bosma-Henkin-Christiansen Syndrome
Bosma Henkin Christiansen Syndrome
Ruprecht Majewski Syndrome
Gifford-Bosma Syndrome
Bosma Syndrome
Bam Syndrome
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Bosma Arhinia Microphthalmia Syndrome, also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism, is related to microphthalmia and muscular dystrophy. An important gene associated with Bosma Arhinia Microphthalmia Syndrome is SMCHD1 (Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1). Affiliated tissues include olfactory bulb and eye, and related phenotypes are cataract and inguinal hernia
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