/severe neurodegenerative syndrome with lipodystrophy

severe neurodegenerative syndrome with lipodystrophy

Rare Disease

MONDO:0014402

Also Known As

severe neurodegenerative syndrome due to BSCL2 deficiencyPELDencephalopathy, progressive, with or without lipodystrophy

Comprehensive, easy-to-understand information about this condition

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Gene data from MyGene.info • Click to view on NCBI Gene

Huntington disease and related disorders

MONDO:0000167

agenesis of the corpus callosum with peripheral neuropathy

MONDO:0000902

striatonigral degeneration

MONDO:0003122

angioid streaks of choroid

MONDO:0004882

congenital generalized lipodystrophy

MONDO:0006536

amyotrophic lateral sclerosis-parkinsonism-dementia complex

MONDO:0007104