PedAM
Pediatric Disease Annotations & Medicines
| Disease | spinal muscular atrophy |
| Phenotype | C0035229|respiratory insufficiency |
| Sentences | 2 |
| PubMedID- 24373183 | Cl7 (a 7-year-old who died from spinal muscular atrophy type i-c with chronic respiratory insufficiency) and cl16 (a 16-year-old who died after head trauma) were provided by the non-profit organization, human & animal bridging research organization (chiba, japan). |
| PubMedID- 19879173 | A homozygous mutation in the sco2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency. |
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