autosomal recessive spinocerebellar ataxia 12
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.
MONDO:0018446
autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome
is_a
SCAR12
exact
WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome
exact
WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
exact
autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX
exact
autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX
exact
autosomal recessive spinocerebellar ataxia 12
exact
autosomal recessive spinocerebellar ataxia type 12
exact
spinocerebellar ataxia with mental retardation and epilepsy
related
spinocerebellar ataxia, autosomal recessive 12
related
spinocerebellar ataxia, autosomal recessive type 12
exact