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Up to: Syndromic disease · Autosomal recessive disease

Human HOXA1 syndromes

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.

1 trial tagged with this condition →