Phenotype #0000304542

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00412547
Associated disease	-
Phenotype details	body mass index: not determined; retinal degeneration; polydactyly; obesity: not determined; no intellectual disability; hypogonadism; renal anomalies: none; additional features: elevated liver enzymes, abnormal electrocardiogram, gynaecomastia
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl syndrome
Age/Examination	40y (40 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-06-30 13:58:35 +02:00 (CEST)
Date last edited	N/A

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