Opitz GBBB syndrome

Term ID

DOID:0080697

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. (7)

References

• GARD:193
• KEGG:H00583
• OMIM:300000

Ontology

Human Disease   ( DOID:0080697 )