Phenotype #0000278952

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00385156
Associated disease	-
Phenotype details	HP:0000556 Retinal dystrophy; HP:0010442 Polydactyly; HP:0001249 Intellectual disability; HP:0001513 Obesity; HP:0000750 Delayed speech and language development; HP:0000662 Nyctalopia; HP:0011003 Severe Myopia;
Diagnosis/Initial	Bardet-Biedl syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl syndrome
Age/Examination	8y (8 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2021-10-08 17:29:22 +02:00 (CEST)
Date last edited	N/A

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