Rare Disease Library

Autosomal recessive cerebellar ataxia

ARCA

Autosomal recessive ataxia due to ubiquinone deficiency

ARCA2 · Autosomal recessive ataxia due to coenzyme Q10 deficiency

Autosomal recessive ataxia, Beauce type

SCAR8 · ARCA1

SMARCA2-related blepharophimosis-intellectual disability syndrome

SMARCA4-deficient sarcoma of thorax

SMARCA4-deficient thoracic sarcoma

Anomalous aortic origin of the right coronary artery

R-ACAOS · Right coronary artery from left aortic sinus

Autosomal recessive congenital ichthyosis

ARCI

Autosomal recessive cutis laxa type 1

ARCL1 · Autosomal recessive cutis laxa with severe systemic involvement

Autosomal recessive cutis laxa type 2

Cutis laxa with joint laxity and developmental delay · ARCL2