Term Name: Abruzzo-Erickson syndrome
Synonyms: CHARGE-like syndrome, X-linked, cleft palate-coloboma-deafness syndrome
Definition: A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1.
Ontology: Human Disease [DOID:0111826]   ( DOID:0111826 )

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