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Opitz GBBB syndrome
Summary
- Synonym
-
- Opitz G/BBB Syndrome
- 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.
- Super Class
- X-linked recessive disease syndrome
External Links
- Disease Ontology
- DOID:0080697
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
