Non-progressive cerebellar ataxia with intellectual disability
Engelsk navn: Non-progressive cerebellar ataxia with intellectual disability
Definisjon
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).
Fra Orphanet
ORPHA: 314647
Klassifiseringsnivå: Disorder
ICD-10: G11.0
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
