autosomal recessive spinocerebellar ataxia 14
Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).
MONDO:0015244
autosomal recessive cerebellar ataxia
is_a
Ataxie spinocérébelleuse à début infantile avec retard psychomoteur
exact
SCAR14
exact
SPARCA
exact
SPARCA1
exact
SPTBN2 autosomal recessive cerebellar ataxia
exact
autosomal recessive cerebellar ataxia caused by mutation in SPTBN2
exact
autosomal recessive cerebellar ataxia-cognitive defect syndrome
exact
autosomal recessive spinocerebellar ataxia type 14
exact
infantile-onset spinocerebellar ataxia-psychomotor delay syndrome
exact
spectrin-associated autosomal recessive cerebellar ataxia type 1
exact
spinocerebellar ataxia, autosomal recessive 14
related
spinocerebellar ataxia, autosomal recessive type 14
exact