cat-eye syndrome
Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.
MONDO:0002254
syndromic disease
is_a
CAT eye syndrome
exact
CES
exact
Cat Eye Syndrome
exact
cat-eye syndrome (Type I)
exact