Abruzzo-Erickson syndrome (DOID:0111826)
Alliance: disease page
Synonyms: CHARGE-like syndrome, X-linked; cleft palate-coloboma-deafness syndrome
Alt IDs: OMIM:302905, MESH:C535559, ORDO:921, UMLS_CUI:C1844862
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.