BabelNet

bn:00177846n

Noun Concept

Categories: DNA replication and repair-deficiency disorders, Genodermatoses, Rare syndromes, Systemic atrophies primarily affecting the central nervous system, Neurodegenerative disorders

ataxia telangiectasia ataxia–telangiectasia A-T AT At, Complementation Group a

Ataxia–telangiectasia, also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, is a rare, neurodegenerative, autosomal recessive disease causing severe disability. Wikipedia

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Ataxia–telangiectasia, also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, is a rare, neurodegenerative, autosomal recessive disease causing severe disability. Wikipedia

An immunodeficiency disorder Wikipedia Disambiguation

A rare, neurodegenerative, autosomal recessive human disease causing severe disability Wikidata

A rare neurodegenerative inherited disease causing severe disability, characterized by poor coordination and telangiectasia to small dilated blood vessels. Wiktionary

IS A

rare disease

autosomal recessive cerebellar ataxia

GENETIC ASSOCIATION

ATM serine/threonine kinase

HEALTH SPECIALTY

neurology

medical genetics

SYMPTOMS

Thymic hypoplasia

Wikipedia

ataxia–telangiectasia