PedAM
Pediatric Disease Annotations & Medicines
| Disease | cerebellar hypoplasia |
| Phenotype | C0011847|diabetes |
| Sentences | 1 |
| PubMedID- 24843749 | Neurod1 also functions as an activator of both gck and insulin (ins)43. in humans, a homozygous mutation leads to permanent neonatal diabetes associated with cerebellar hypoplasia, learning difficulties, profound sensorineural deafness, and visual impairment as a result of severe myopia and retinal dystrophy44. |
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