spinocerebellar ataxia type 34
A subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.
MONDO:0019270
erythrokeratoderma
is_a
MONDO:0019792
autosomal dominant cerebellar ataxia type I
is_a
MONDO:0100118
hereditary skin disorder
is_a
Erythrokeratodermia with Ataxia
exact
Giroux Barbeau syndrome
related
SCA34
exact
erythrokeratodermia - ataxia
related
erythrokeratodermia with ataxia
exact
spinocerebellar ataxia 34
related
spinocerebellar ataxia and erythrokeratodermia
exact
spinocerebellar ataxia type 34
exact
SPAC1639.01c SPAC1B2.03c