autosomal dominant cerebellar ataxia type I
MONDO:0019792Mondo
Findings
No curated finding names autosomal dominant cerebellar ataxia type I yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.
Definition from the Mondo Disease Ontology (MONDO:0019792), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
- Narrower terms (30)
- autosomal dominant cerebellar ataxia, deafness and narcolepsy
- cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
- cerebellar dysfunction with variable cognitive and behavioral abnormalities
- Machado-Joseph disease
- neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism
- spinocerebellar ataxia 46
- spinocerebellar ataxia type 1
- spinocerebellar ataxia type 12
- spinocerebellar ataxia type 13
- spinocerebellar ataxia type 14
- spinocerebellar ataxia type 15/16
- spinocerebellar ataxia type 17
- spinocerebellar ataxia type 18
- spinocerebellar ataxia type 19/22
- spinocerebellar ataxia type 2
- spinocerebellar ataxia type 20
- spinocerebellar ataxia type 21
- spinocerebellar ataxia type 23
- spinocerebellar ataxia type 25
- spinocerebellar ataxia type 27
- spinocerebellar ataxia type 28
- spinocerebellar ataxia type 29
Other names
4 names
Resolves to: autosomal dominant cerebellar ataxia type I
- Also called
- ADCA1ADCAIautosomal dominant cerebellar ataxia type 1cerebellar plus syndrome