Global InformationAthabaskan brainstem dysgenesis syndrome information
| Athabaskan brainstem dysgenesis syndrome | |
|---|---|
| Other names | Athabascan brainstem dysgenesis syndrome, ABDS |
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| Athabaskan brainstem dysgenesis syndrome is an autosomal recessive disorder. | |
| Specialty | Medical genetics |
Athabaskan brainstem dysgenesis syndrome (ABDS) or Athabascan brainstem dysgenesis syndrome is an extremely rare genetic condition that affects the central nervous system's brainstem. It is characterized by a variety of varied traits, such as facial paresis, sensorineural deafness, congenital horizontal gaze palsy, central hypoventilation, and developmental delay.[1]
- ^ Holve, Steve; Friedman, Barbara; Hoyme, H. Eugene; Tarby, Theodore J.; Johnstone, Sharon J.; Erickson, Robert P.; Clericuzio, Carol L.; Cunniff, Christopher (2003). "Athabascan brainstem dysgenesis syndrome". American Journal of Medical Genetics Part A. 120A (2). Wiley: 169–173. doi:10.1002/ajmg.a.20087. ISSN 1552-4825.