Phenotype Library | Search Phenotypes

Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia (MONDO:0008842)

A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.

Overview

Category

nervous system disorder

Ontology ID

MONDO:0008842

Internal:10109

Synonyms

AOA1

APTX oculomotor apraxia or related oculomotor disease

ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

oculomotor apraxia or related oculomotor disease caused by mutation in APTX

EAOH

EOCA-HA

ataxia, adult-onset, with oculomotor apraxia

ataxia-oculomotor apraxia 1

ataxia-oculomotor apraxia syndrome

ataxia-oculomotor apraxia type 1

ataxia-telangiectasia-like syndrome

cerebellar ataxia, early-onset, with hypoalbuminemia

early-onset ataxia with oculomotor apraxia and hypoalbuminemia

early-onset cerebellar ataxia with hypoalbuminemia

Mapped terms

DOID:0050754

GARD:0009283

MEDGEN:395301

MESH:C538013

NANDO:1200051

OMIM:208920

Orphanet:1168

UMLS:C1859598

Child terms

Unknown children.

Results

Cookie consent