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GM15850

^ http://www.ebi.ac.uk/efo/EFO_0006276


Clinically affected; ataxia; scoliosis; hypertrophic cardiomyopathy; slurred speech; homozygous for the GAA expansion in the frataxin gene with alleles of approximately 650 and 1030 repeats; brother of GM15849 and GM15851, son of GM15847 and GM15848. [ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern ]

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database cross reference

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