Phenotype #0000284229

Individual ID 00390741
Associated disease -
Phenotype details Visual acuity right eye/left eye: 1/20_1/20, rare bone spicule shaped pigment deposits in the, mid periphery macular atrophy, macular atrophy
Diagnosis/Initial Bardet-Biedl syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 41y (41 years)
Age/Diagnosis -
Age/Onset 8y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-11-11 19:27:39 +01:00 (CET)
Date last edited N/A

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