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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