autosomal recessive Parkinson disease 14
A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
MONDO:0018329
obsolete persistent combined dystonia (obsolete MONDO:0018329)
excluded_subClassOf
MONDO:0008199
late-onset Parkinson disease
is_a
MONDO:0017998
PLA2G6-associated neurodegeneration
is_a
PARK14
exact
PLA2G6 hereditary late onset Parkinson disease
exact
PLA2G6-related dystonia-parkinsonism
exact
Parkinson disease 14, autosomal recessive
related
autosomal recessive Parkinson disease type 14
exact
dystonia-parkinsonism, Paisan-Ruiz type
exact
hereditary late onset Parkinson disease caused by mutation in PLA2G6
exact