hereditary ataxia

Findings

No curated finding names hereditary ataxia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

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.

Where it sits

A kind of

• atactic disorder
• hereditary neurological disease

Narrower terms (20)

• ataxia with fasciculations
• ataxia-hypogonadism-choroidal dystrophy syndrome
• ataxia-tapetoretinal degeneration syndrome
• autosomal dominant sensory ataxia 1
• autosomal recessive ataxia due to PEX16 deficiency
• autosomal recessive ataxia due to PEX2 deficiency
• cataract-ataxia-deafness syndrome
• EAST syndrome
• hereditary cerebellar ataxia
• hereditary episodic ataxia
• hereditary spastic paraplegia 7
• ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
• juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
• muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
• myoclonus-cerebellar ataxia-deafness syndrome
• Richards-Rundle syndrome
• severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome

Resolves to: hereditary ataxia

Also called

rare hereditary ataxia