severe neurodegenerative syndrome with lipodystrophy
MONDO:0020087
hereditary lipodystrophy
is_a
MONDO:0024237
inherited neurodegenerative disorder
is_a
MONDO:0100198
Mendelian encephalopathy
is_a
PELD
related
encephalopathy, progressive, with or without lipodystrophy
related
severe neurodegenerative syndrome due to BSCL2 deficiency
exact
SPAC3A11.04