PedAM
Pediatric Disease Annotations & Medicines
| Disease | cataract |
| Phenotype | C0028738|nystagmus |
| Sentences | 2 |
| PubMedID- 22025896 | Purpose: familial nystagmus complicated with cataract and iris anomalies are genetically heterogeneous, and the pathophysiological mechanisms remain unclear. |
| PubMedID- 21972112 | In adcc, p.ser129arg described in this study is the first mutation of crybb1 identified not in exon 6, which is responsible for bilateral dense nuclear cataract with microcornea and nystagmus in all affected members. |
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