leukoencephalopathy, diffuse hereditary, with spheroids 1
A rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.
MONDO:0019046
leukodystrophy
is_a
MONDO:0030796
leukoencephalopathy, hereditary diffuse, with spheroids
is_a
MONDO:0100632
CSF1R-related disorder
is_a
ALSP
exact
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia
exact
CSF1R-related ALSP
exact
CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
exact
FPSG
exact
GPSC
exact
HDLS
broad
POLD
exact
adult-onset leukodystrophy with neuroaxonal spheroids
related
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
exact
autosomal dominant leukoencephalopathy with neuroaxonal spheroids
exact
dementia, familial, Neumann type
exact
familial dementia, Neumann type
exact
familial progressive subcortical gliosis
exact
gliosis, familial progressive subcortical
exact
hereditary diffuse leukoencephalopathy with axonal spheroids
related
hereditary diffuse leukoencephalopathy with spheroids
broad
leukoencephalopathy with neuroaxonal spheroids, autosomal dominant
exact
leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia
exact
leukoencephalopathy, diffuse hereditary, with spheroids
broad
leukoencephalopathy, hereditary diffuse, with spheroids
broad
neuroaxonal leukodystrophy
related
pigmentary orthochromatic leukodystrophy
exact
subcortical gliosis of Neumann
exact