Global Variome shared LOVD

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

Phenotype #0000245690 Individual ID 00327398 Associated disease BBS1 Inheritance Familial, autosomal recessive Diagnosis/Initial Nonsyndromic Retinitis Pigmentosa Age/Examination 12y (12 years) Diagnosis/Definite Bardet-Biedl Syndrome Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details Fundus/History: Mild pigment mottling in macular Ocular Coherence Tomography: Parafoveal loss of the ellipsoid zone Electroretinogram: Rod-cone dystrophy; cone flicker reduced ; 10 Hz dim flicker not recordable Protein - Owner name Lance P Doucette Database submission license No license selected Created by Lance P Doucette Date created 2021-01-20 21:17:59 +01:00 (CET) Date last edited 2021-01-21 13:36:05 +01:00 (CET)

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