Global Variome shared LOVD

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Phenotype #0000308696 Individual ID 00417186 Associated disease EVR1 Phenotype details whole family description: manifested ophthalmic features within the first decade of life, most severely visually disabled by the second decade; untreated members of this family had bilateral cicatrized tractional retinal detachments with subretinal cholesterol crystals and chronic intraretinal exudates, no asymptomatic carriers of this mutation were identified, but only 6 affecteds had DNA analysis Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite familial exudative vitreoretinopathy Age/Examination - 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 2022-09-13 15:10:40 +02:00 (CEST) Date last edited N/A

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