Phenotype #0000309869

Individual ID 00418532
Associated disease BBS
Phenotype details retinal dystrophy: yes; body mass index: 30.3; obesity: yes; hypogonadism: yes; renal abnormality: no; secondary features: speech disability: yes; strabismus, cataract, astigmatism: no; dental anomaly: yes; gastrointestinal problems: no; menstruation in females: -; ophthalmic examinations: best corrected visual acuity and refraction right, left eye: -4.75-1.75 x 10 4/10, -4.75-3.00 x 10 3/10; fundus appearance: attenuated arterioles, pale optic disc
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Bardet-Biedl syndrome (BBS)
Age/Examination 11y (11 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 2022-09-29 21:13:27 +02:00 (CEST)
Date last edited N/A

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