You are using an outdated browser. Please upgrade your browser to improve your experience.

severe neurodegenerative syndrome with lipodystrophy

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A neurodegenerative disease characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade, hyperactive behavior, seizures, tremor and ataxic gait. Patients may show a mild or typical lipodystrophic appearance.
Mondo Term and Equivalent IDs
MONDO:0014402:  severe neurodegenerative syndrome with lipodystrophy
Orphanet:363400: 
UMLS:C4014700: