PedAM
Pediatric Disease Annotations & Medicines
| Disease | microphthalmia |
| Phenotype | C0456909|blindness |
| Sentences | 1 |
| PubMedID- 21633365 | Based on the mutational screening of 109 patients with pediatric vitreoretinopathies, wu and co-authors defined a genotype-phenotype correlation, in which the ndp mutations disrupt the cysteine-knot motif resulting in severe retinal dysgenesis and a diagnosis of norrie disease, whereas patients with noncysteine mutations have varying degrees of avascular peripheral retina, extraretinal vasculature, and subretinal exudate.32 in family pkdf740, congenital blindness due to microphthalmia co-segregated with mild to profound, progressive hearing loss. |
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