Phenotype #0000290573

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00397439
Associated disease	-
Phenotype details	congenital amaurosis , retinal coloboma, early-onset tapetoretinal degeneration, cerebellar vermis aplasia/hypoplasia, ataxia, mental retardation or psychomotor retardation
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Joubert syndrome
Age/Examination	9y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	normal kidney at age 9
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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