Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000308380 Individual ID 00416870 Associated disease OPPG Phenotype details stage 2 FEVR (HP:0030490), osteopenia (HP:0000938); fundus: very small hard peripheral exudates; fluorescein angiography: evidence of stage 2A familial exudative vitreoretinopathy; dual energy X-ray absorptiometry: L1 to L4 bone mineral density: 1.033 g/ cm2 (Z-score: -1.5 SD) and left total femur and neck bone mineral density were 0.905 g/cm2 (Z-score: -1.3 SD) and 0.822 g/cm2 (Z score: -1.7 SD), respectively; familial exudative vitreoretinopathy stage right/left eye: 2A/2A; bone mineral density: osteopenia Diagnosis/Initial - Inheritance Familial Diagnosis/Definite osteoporosis-pseudoglioma syndrome (OPPG) Age/Examination 46y (46 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-09-08 21:04:11 +02:00 (CEST) Date last edited 2022-09-09 10:19:55 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.