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Opitz G/BBB syndrome

MONDO:0017138

Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS).

Also known as: Opitz G syndrome, Opitz G/BBB syndrome, Opitz GBBB syndrome, Opitz syndrome, Opitz-Frias syndrome, Opitz-GBBB syndrome, hypertelorism-oesophageal abnormality-hypospadias syndrome, hypospadias-dysphagia syndrome

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Sub-types of Opitz G/BBB syndrome

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