Opitz GBBB syndrome (DOID:0080697)
Alliance: disease page
Synonyms: Opitz G/BBB Syndrome; Opitz GBBB syndrome type I
Alt IDs: OMIM:300000, KEGG:H00583
Definition: A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22.