Global Variome shared LOVD

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Phenotype #0000304668 Individual ID 00412676 Associated disease BBS Phenotype details suspected retinitis pigmentosa - fixes and follows objects, small optic disk with mild pallor, grayish retinal discoloration in mid-periphery; intellectual disability: moderate; short stature: yes, percentile 3-5% (129 cm; weight (kg): 29.5 (percentile 25-50%); obesity - calculated BMI kg/m2: BMI-for-age at the 68th percentile; genu valgum; varum Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl syndrome Age/Examination 10y (10 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 2022-07-02 09:23:50 +02:00 (CEST) Date last edited N/A

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