has material basis in germline mutation in disease has feature APTX ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia https://github.com/monarch-initiative/mondo/issues/5347 https://www.malacards.org/card/ataxia_early_onset_with_oculomotor_apraxia_and_hypoalbuminemia OMIM:208920 MONDO:0008842 AOA1 oculomotor apraxia or related oculomotor disease caused by mutation in APTX A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia. Orphanet:1168 APTX oculomotor apraxia or related oculomotor disease Editor note: see PMID:17094036 for a discussion of relationship to CoQ10 deficiency. This is not a primary CoQ10 deficiency, EOCA-HA GARD:0009283 UMLS:C1859598 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MESH:C538013 DOID:0050754 early-onset cerebellar ataxia with hypoalbuminemia early-onset ataxia with oculomotor apraxia and hypoalbuminemia EAOH NANDO:1200051 MEDGEN:395301 ataxia-telangiectasia-like disorder coenzyme Q10 deficiency DNA repair disease