choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities.
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
BCAHH
exact
KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
exact
branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
exact