Human HOXA1 syndromes
Human HOXA1 syndromes
Definition
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.
Also known as ABSD, Athabascan brainstem dysgenesis syndrome, Athabaskan brainstem dysgenesis syndrome, Navajo brainstem syndrome — per MONDO