has material basis in germline mutation in CDH11 syndromic intellectual disability syndromic disease hereditary disease Elsahy-Waters syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/elsahy_waters_syndrome DOID:0080631 BSG syndrome hypospadias-hypertelorism-coloboma and deafness syndrome MESH:C537084 OMIM:211380 branchio-skeleto-genital syndrome ESWS Elsahy-Waters syndrome OMIM:603463 brachioskeletogenital syndrome ELSAHY-Waters syndrome Orphanet:1299 GARD:0000955 MESH:C566373 Orphanet:157788 MONDO:0008885 hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss SCTID:719097002 An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971. UMLS:C0809936 MEDGEN:923028 multiple congenital anomalies/dysmorphic syndrome-intellectual disability