eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | spinal muscular atrophy |
| Comorbidity | C0029124|optic atrophy |
| Sentences | 1 |
| PubMedID- 23298926 | Isolated exon 8 deletion in type 1 spinal muscular atrophy with bilateral optic atrophy: unusual genetic mutation leading to unusual manifestation. |
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