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autosomal dominant Opitz G/BBB syndrome

Disease Summary
Associated Targets (1)


Mondo Description Autosomal dominant form of Opitz G/BBB syndrome.
Uniprot Description A form of Opitz GBBB syndrome, a congenital midline malformation syndrome characterized by hypertelorism, genital-urinary defects such as hypospadias in males and splayed labia in females, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay and congenital heart defects.
Mondo Term and Equivalent IDs
MONDO:0007779:  autosomal dominant Opitz G/BBB syndrome