PedAM
Pediatric Disease Annotations & Medicines
| Disease | severe combined immunodeficiency |
| Phenotype | C0018784|sensorineural deafness |
| Sentences | 1 |
| PubMedID- 24666435 | Ak2 gene mutation has been found in patients with reticular dysgenesis, a most severe form of scid (human severe combined immunodeficiencies) which may lead to bilateral sensorineural deafness in affected newborns. |
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