Leigh syndrome with nephrotic syndrome

Disease Export to PDF
Name:
Leigh syndrome with nephrotic syndrome
Description:
A rare, genetic neurometabolic disease characterized by encephalomyopathy (including developmental delay, nystagmus, progressive ataxia, dystonia, amyotrophy, visual loss, sensorineural deafness, seizures) and bilateral, symmetrical lesions in the basal ganglia or brainstem on imaging, associated with nephrotic syndrome.
ORPHAcode:
255249
Synonyms:
Infantile subacute necrotizing encephalopathy with nephrotic syndrome
Leigh disease with nephrotic syndrome
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
01 May 2022 - 06:55