has material basis in germline mutation in CAMTA1 cerebellar dysfunction with variable cognitive and behavioral abnormalities https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/6163 https://www.malacards.org/card/cerebellar_dysfunction_with_variable_cognitive_and_behavioral_abnormalities cerebellar ataxia, nonprogressive, with mental retardation UMLS:C3553661 SCTID:723441001 non-progressive cerebellar ataxia with intellectual disability Orphanet:314647 GARD:0017429 CAMTA1-related disorder cerebellar dysfunction with variable cognitive and behavioral abnormalities CANPMR DOID:0050998 cerebellar ataxia, nonprogressive, with intellectual disability MEDGEN:766575 OMIM:614756 nonprogressive cerebellar ataxia with intellectual disability 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:0013886 autosomal dominant cerebellar ataxia type I