Term Name: | Abruzzo-Erickson syndrome |
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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 ) |