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 )

Relationships
is a type of: syndrome X-linked recessive disease