SQSTM1-related multisystem proteinopathy
A group of disorders including Paget disease of bone (PBD), inclusion body myopathy (IBM), and less frequently frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Phenotypic presentation and severity are highly variable, and individuals within the same family may present with different associated conditions.
MONDO:0019052
inborn errors of metabolism
is_a
MONDO:0021179
proteostasis deficiencies
is_a
SQSTM1-related multisystem proteinopathy
exact