Phenotype #0000304487

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00412485
Associated disease	-
Phenotype details	sensorineural features: retinal dystrophy; abnormalities of the hands and feet: none; obesity; intellectual disability; urogenital anomalies; other clinical features: macrocephaly
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl syndrome
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-06-29 13:33:34 +02:00 (CEST)
Date last edited	N/A

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