syndromic disease autosomal recessive disease human HOXA1 syndromes https://github.com/monarch-initiative/mondo/issues/1377 https://www.malacards.org/card/athabaskan_brainstem_dysgenesis_syndrome OMIM:601536 ABDS MONDO:0011099 Athabaskan brainstem dysgenesis syndrome Bosley Salih Alorainy syndrome Orphanet:69739 Athabascan brainstem dysgenesis syndrome GARD:0008333 ABSD Athabaskan brainstem dysgenesis Human HOXA1 syndromes is characterized by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive. MEDGEN:330410 UMLS:C1832215 DOID:0050682 BSAS Navajo brainstem syndrome SCTID:720518006 Athabaskan brainstem dysgenesis syndrome