burn-mckeown syndrome Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term). (Orphanet Rare Disease Ontology, Orphanet_1200)
External Link http://www.omim.org/entry/608572
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1 genes associated with the burn-mckeown syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
TXNL4A thioredoxin-like 4A