has material basis in germline mutation in KMT2D syndromic disease hereditary disease choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome https://github.com/monarch-initiative/mondo/issues/7560 https://www.malacards.org/card/branchial_arch_abnormalities_choanal_atresia_athelia_hearing_loss_and_hypothyroidism_syndrome OMIM:620186 UMLS:C5680310 MONDO:0035651 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. MEDGEN:1830104 Orphanet:589856 branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome GARD:0022366 KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome BCAHH