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Abruzzo-Erickson syndrome
DOID:0111826
Summary
Associated Genes
Associated Alleles
Associated Models
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.
[1]
[2]
Synonyms
CHARGE-like syndrome, X-linked
cleft palate-coloboma-deafness syndrome
Cross References
GARD:360
MESH:C535559
Show All 6
Parent Terms
syndrome
X-linked monogenic disease
Child Terms
None
Sources of Associations
RGD
MGI
ZFIN
FB
WB
SGD
Associated Genes
Associated Alleles
Associated Models
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