Athabascan brainstem dysgenesis syndrome

Definition:

Athabascan brainstem dysgenesis syndrome (ABDS) are HOXA1-related disorders marked by restricted ocular motility, sensorineural deafness, cerebrovascular malformations, and mental retardation. Cardiac malformations are also present in patients with these disorders.

References:

[1]. Steve Holve, et al. Athabascan brainstem dysgenesis syndrome. Am J Med Genet A. 2003 Jul 15;120A(2):169-73. [Content Brief]

[2]. T M Bosley, et al. Clinical characterization of the HOXA1 syndrome BSAS variant. Neurology. 2007 Sep 18;69(12):1245-53. [Content Brief]

[3]. Thomas M Bosley, et al. The clinical spectrum of homozygous HOXA1 mutations. Am J Med Genet A. 2008 May 15;146A(10):1235-40. [Content Brief]

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