PedAM
Pediatric Disease Annotations & Medicines
| Disease | ciliopathy |
| Phenotype | C0032827|k deficiency |
| Sentences | 1 |
| PubMedID- 26206566 | Our results link deficiency in 17 of the ciliopathy genes to a variety of neurodevelopmental defects that may help us understand the diverse clinical features of ciliopathies, including cortical hypoplasia, ectopias and axonal fibre tract defects, and the resultant functional outcomes such as intellectual disabilities1419. |
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