Phenotype #0000282068

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00388527
Associated disease	-
Phenotype details	intellectual disability, rod-cone dystrophy, obesity, polydactyly, renal fibrosis, BMI: 23, strabismus, atrial septal defect, hearing impairment, astigmatism, intracranial hypertension
Diagnosis/Initial	Bardet-Biedl syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl syndrome
Age/Examination	9y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2021-11-04 13:39:46 +01:00 (CET)
Date last edited	N/A

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