cerebellar dysfunction with variable cognitive and behavioral abnormalities
Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).
MONDO:0019792
autosomal dominant cerebellar ataxia type I
is_a
CAMTA1-related disorder
exact
CANPMR
exact
cerebellar ataxia, nonprogressive, with intellectual disability
exact
cerebellar ataxia, nonprogressive, with mental retardation
exact
cerebellar dysfunction with variable cognitive and behavioral abnormalities
exact
non-progressive cerebellar ataxia with intellectual disability
exact
nonprogressive cerebellar ataxia with intellectual disability
exact
SPAC26H5.05