Additional Disease Briefs

NORD Summit 2026 Banner Ad

ataxia-telangiectasia-like disorder 2

Also known as: ATLD2, PCNA-related progressive neurodegenerative photosensitivity syndrome, ataxia-telangiectasia-like disorder 2, ataxia-telangiectasia-like disorder type 2


ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

Also known as: AOA1, APTX oculomotor apraxia or related oculomotor disease, EAOH, EOCA-HA, ataxia with oculomotor apraxia type 1, ataxia, adult-onset, with oculomotor apraxia, ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 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, oculomotor apraxia or related oculomotor disease caused by mutation in APTX




atelosteogenesis type II

Also known as: AO2, AOII, De 50A Chapelle dysplasia, De la Chapelle dysplasia, atelosteogenesis II, atelosteogenesis type 2, atelosteogenesis type II, atelosteogenesis, type 2, atelosteogenesis, type II, neonatal osseous dysplasia 1, neonatal osseous dysplasia type 1