Disease

Abruzzo-Erickson 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.
Synonyms
  • CHARGE-like syndrome, X-linked
  • cleft palate-coloboma-deafness syndrome
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

Associated Alleles

Associated Models