Global Variome shared LOVD

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Phenotype #0000309870 Individual ID 00418533 Associated disease BBS Phenotype details retinal dystrophy: yes; body mass index: not applicable; obesity: yes; hypogonadism: not applicable; renal abnormality: yes; secondary features: speech disability: no; strabismus, cataract, astigmatism: posterior subcapsular cataract; dental anomaly: no; gastrointestinal problems: digestion problem; menstruation in females: regular; ophthalmic examinations: best corrected visual acuity and refraction right, left eye: - 2-3 x 160 counting fingers 20-, -4 -2 x 10 counting fingers 20-; fundus appearance: attenuated arterioles, pale optic disc, bone spicules, macular atrophy Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl syndrome (BBS) Age/Examination 19y (19 years) 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 2022-09-29 21:13:27 +02:00 (CEST) Date last edited N/A

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