human HOXA1 syndromes multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome Bosley-Salih-Alorainy syndrome https://github.com/monarch-initiative/mondo/issues/5507 https://www.malacards.org/card/bosley_salih_alorainy_syndrome Orphanet:69737 Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation. MONDO:0019075 BSAS icd11.foundation:1771217937 MEDGEN:321908 GARD:0016684 UMLS:C1832216