Global Variome shared LOVD

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Phenotype #0000304547 Individual ID 00412552 Associated disease - Phenotype details body mass index: 33.8; retinal degeneration; no polydactyly; obesity: Yes; intellectual disability; hypogonadism; renal anomalies: left kidney: focal caliectasis in upper and interpolar region; additional features: elevated liver enzymes, hypodontia, speech disability, gynaecomastia Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl-like syndrome Age/Examination 20y (20 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 2022-06-30 13:58:35 +02:00 (CEST) Date last edited N/A

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