Global Variome shared LOVD

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Phenotype #0000315309 Individual ID 00424102 Associated disease - Phenotype details medical and ophthalmological history: myopia; revelant family history: progressive myopia; symptoms at time of diagnosis: nyctalopia and reduced visual field; best corrected visual acuity right, left eye: 5/400, 5/400; fundus examination: narrowed blood vessels, little RPE changes in the periphery and perifoveal pigmentation with macular atrophy Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 28y (28 years) Age/Diagnosis 8y Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-11-16 21:10:04 +01:00 (CET) Date last edited N/A

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