Global Variome shared LOVD

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Phenotype #0000278948 Individual ID 00385152 Associated disease - Phenotype details HP:0000510 Rod-cone dystrophy; HP:0001256 Intellectual disability, mild; HP:0011098 Verbal dyspraxia; HP:0001270 Motor delay; HP:0001156 Brachydactyly; HP:0001159 Syndactyly; HP:0000483 Astigmatism; HP:0011003 Severe Myopia; HP:0000098 Tall stature; HP:0025502 Overweight; Diagnosis/Initial Bardet-Biedl syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl syndrome Age/Examination 22y1m (22 years, 1 month) 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 2021-10-08 17:29:22 +02:00 (CEST) Date last edited N/A

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