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ENArrhinia-Choanal Atresia-Microphthalmia Syndrome
Alias:
Arrhinia with Choanal Atresia and Microphthalmia Syndrome
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Arrhinia-Choanal Atresia-Microphthalmia Syndrome, also known as arrhinia with choanal atresia and microphthalmia syndrome, is related to bosma arhinia microphthalmia syndrome. An important gene associated with Arrhinia-Choanal Atresia-Microphthalmia Syndrome is SMCHD1 (Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1). Related phenotypes are microphthalmia and midface retrusion
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