atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.
MONDO:0015650
epilepsy syndrome
excluded_subClassOf
MONDO:0003847
hereditary disease
is_a
Feigenbaum Bergeron Richardson syndrome
related
Feigenbaum-Bergeron-Richardson syndrome
exact
premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder
related