Abruzzo-Erickson syndrome

Term ID

DOID:0111826

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. (2)

References

• GARD:360
• MESH:C535559
• OMIM:302905
• ORDO:921
• SNOMEDCT_US_2023_03_01:718574003
• UMLS_CUI:C1844862

Ontology

Human Disease   ( DOID:0111826 )