Global Variome shared LOVD

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Phenotype #0000309204 Individual ID 00417836 Associated disease BBS Phenotype details night blindness; visual impairment: visual acuity right/left eye: not available; retinal vascular attenuation, mild pigmentary disturbance; visual field: could not be tested; refractive error:+3.75/-2; +3.0/-2, hypermetropic astigmatism; weight (kg):28, truncal obesity, round facies; height (cm): 109; polydactyly: hands brachydactyly, feet-polydactyly, syndactyly; genital system (genital malformation, secondary sex characteristics): none; intellectual impairment or delayed development: delayed motor development and speech delay-attention deficit disorder with poor concentration*; renal anomalies: no renal anomalies on ultrasound scan Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl syndrome (BBS) Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset 4y Phenotype/Onset night blindness Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-09-26 11:46:56 +02:00 (CEST) Date last edited N/A

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