Phenotype #0000290580

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00397446
Associated disease	-
Phenotype details	cerebellar vermis aplasia/hypoplasia, ataxia
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Joubert syndrome
Age/Examination	>11y (later than 11 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	age of end-stage renal disease or significant redution in kidney function
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2021-12-21 17:42:30 +01:00 (CET)
Date last edited	N/A

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