GenTIGSA Gene Database on Rare Genetic Disorders
Ataxia, Early-onset, With Oculomotor Apraxia And Hypoalbuminemia  
Disease Aliases (24)

Aoa

Aoa1

Aoa1 (ataxia oculomotor apraxia type 1)

Aptx oculomotor apraxia or related oculomotor disease

Ataxia, adult-onset, with oculomotor apraxia

Ataxia-oculomotor apraxia 1

Ataxia-oculomotor apraxia syndrome

Ataxia-telangiectasia-like syndrome

Adult onset ataxia with oculomotor apraxia

Ataxia oculomotor apraxia type 1

Ataxia with oculomotor apraxia 1

Ataxia with oculomotor apraxia type 1

Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

Ataxia-oculomotor apraxia type 1

Autosomal recessive ataxia with oculomotor apraxia type 1

Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1

Cerebellar ataxia, early-onset, with hypoalbuminemia

Eaoh

Eoca-ha

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia

Early-onset ataxia with oculomotor apraxia and hypoalbuminemia

Early-onset cerebellar ataxia with hypoalbuminemia

Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; eaoh

Oculomotor apraxia or related oculomotor disease caused by mutation in aptx

Associated Genes (1)
 

NCBI-RefSeq:  APTX   (Aprataxin)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations