PedAM
Pediatric Disease Annotations & Medicines
| Disease | cerebellar ataxia |
| Phenotype | C0016719|friedreich\'s ataxia |
| Sentences | 1 |
| PubMedID- 23200550 | This limitation is particularly important in neurology with many conditions such as huntington's disease, myotonic dystrophy, friedreich's ataxia and forms of spinocerebellar ataxia occurring due to trinucleotide repeat expansions [30,31] and hence disorders with a similar genotypic abnormality may not be detected with exome sequencing. |
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