has material basis in germline mutation in GPC4 hereditary disease Keipert syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/keipert_syndrome UMLS:C1850627 Keipert syndrome GARD:0000267 nasodigitoacoustic syndrome MONDO:0009720 NCIT:C186306 OMIM:255980 nasodigitoacoustic syndrome, formerly KPTS DOID:0111842 A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis. OMIM:301026 Orphanet:2662 MESH:C538337 SCTID:763774001 Keipert syndrome, X-linked recessive MEDGEN:338088 multiple congenital anomalies/dysmorphic syndrome without intellectual disability