Behr disease.
D000293:Adolescent; D001259:Ataxia / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D009896:Optic Atrophy / Q000235:genetics*; D010375:Pedigree; D001750:Urinary Bladder, Neurogenic / Q000235:genetics