Ataxia-telangiectasia-like disorder
MONDO:0011457An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia.
Also known as: ATLD, ataxia - telangiectasia-like disorder, ataxia-telangiectasia-like disorder type 1, ATLD1, ataxia-telangiectasia-like disorder 1
14 clinical trials for this condition and its sub-types.
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Disease
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Nervous system disorder
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Hereditary disease
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Neurodegenerative disease
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Central nervous system disorder
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Human disease
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Inherited neurodegenerative disorder
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Hereditary neurological disease
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Disease of genetic or genomic mechanism
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