cerebellar dysfunction with variable cognitive and behavioral abnormalities
Findings
No curated finding names cerebellar dysfunction with variable cognitive and behavioral abnormalities yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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).
Definition from the Mondo Disease Ontology (MONDO:0013886), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
73 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Hippocampal atrophyHPOHP:0410170
- 4 of 4 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Broad foreheadHPOHP:0000337
- 12 of 13 reported patients
- Unsteady gaitHPOHP:0002317
- 12 of 14 reported patients
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CAMTA1HGNC:18806
- Definitive · Ambry Genetics · Autosomal dominant · 2023
- Definitive · ClinGen · Autosomal dominant · 2023
- Definitive · G2P · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: cerebellar dysfunction with variable cognitive and behavioral abnormalities
- Also called
- CAMTA1-related disorderCANPMRcerebellar ataxia, nonprogressive, with intellectual disabilitycerebellar ataxia, nonprogressive, with mental retardationnon-progressive cerebellar ataxia with intellectual disabilitynonprogressive cerebellar ataxia with intellectual disability