Term Name: | Opitz GBBB syndrome |
---|---|
Synonyms: | Opitz GBBB syndrome type I |
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. |
Ontology: | Human Disease [DOID:0080697] ( DOID:0080697 ) |