mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.
MONDO:0020046
autosomal recessive degenerative and progressive cerebellar ataxia
is_a
MONDO:0100512
mitochondrial DNA depletion syndrome, hepatocerebral form
is_a
IOSCA
exact
MTDPS7
related
OHAHA syndrome
exact
Ohaha syndrome
exact
SCA8 (formerly)
related
TWNK autosomal recessive degenerative and progressive cerebellar ataxia
exact
autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK
exact
mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
exact
mitochondrial DNA depletion syndrome type 7
exact
ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis
related
ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis
related
ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome
exact
spinocerebellar ataxia 8
related
spinocerebellar ataxia 8 (formerly)
related
spinocerebellar ataxia infantile with sensory neuropathy
related