hypomyelinating leukodystrophy 6
A leukodystrophy characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.
MONDO:0019046
leukodystrophy
is_a
MONDO:0800470
TUBB4A-related neurologic disorder
is_a
H-ABC
exact
HABC
exact
HLD6
exact
hypomyelinating leukodystrophy type 6
exact
hypomyelination with atrophy of basal ganglia and cerebellum
exact
leukodystrophy, hypomyelinating, 6
related
leukodystrophy, hypomyelinating, type 6
exact
SPBC26H8.07c