Phenotype #0000304652

Individual ID 00412660
Associated disease BBS
Phenotype details 14y: best corrected visual acuity right/left eye: 0.6 / 0.6; full field electroretinography (right eye only), light adapted: non-recordable, dark adapted: non-recordable; flash visual evoked potentials: abnormal; additional ocular findings: strabismus both eyes; extra-ocular findings: intellectual disability, attention deficit/hyperactivity disorder; 23y: best corrected visual acuity right/left eye: 0.1 / 0.1; ophthalmoscopic findings: optic disc pallor, attenuated retinal blood vessels, bone-spicule pigmentation
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Bardet-Biedl syndrome
Age/Examination 23y (23 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-07-01 20:13:43 +02:00 (CEST)
Date last edited N/A

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