Phenotype #0000142000

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00179520
Associated disease	JBTS
Phenotype details	Developmental delay, ataxia Rod cone dystrophy, night blindness, progressive visual loss Recurrent UTI Renal scarring bilaterally Thermoregulation problems; episode of transverse myelitis
Diagnosis/Initial	Joubert syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Joubert syndrome
Age/Examination	21y (21 years)
Age/Diagnosis	21y
Age/Onset	00y06m
Phenotype/Onset	-
Protein	-
Owner name	John Sayer
Database submission license
Created by	John Sayer
Date created	2018-08-24 08:57:24 +02:00 (CEST)
Date last edited	2018-08-24 09:28:21 +02:00 (CEST)

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