Phenotype #0000304666

Individual ID 00412674
Associated disease BBS
Phenotype details strabismus, best corrected visual acuity right, left eye: hand motion 15cm, light perception; retinitis pigmentosa - nyctalopia 28y; optic atrophy, attenuated vessels, gray atrophic retina, diffuse coarse pigment clumps &bone spicules, macular edema, mild posterior subcapsular cataract; intellectual disability: severe; short stature: yes, 149 cm; weight (kg): 62; obesity - calculated BMI kg/m2: no, but overweight - 27.9; genu valgum; varum
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Bardet-Biedl syndrome
Age/Examination 47y (47 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 2022-07-02 09:23:50 +02:00 (CEST)
Date last edited N/A

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