Phenotype #0000142002

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00179522
Associated disease	JBTS
Phenotype details	Developmental delay, ataxia Rod cone dystrophy, night blindness, progressive visual loss, oculomotor apraxia Recurrent UTI Unequal kidney size
Diagnosis/Initial	Joubert syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Joubert syndrome
Age/Examination	09y (9 years)
Age/Diagnosis	09y
Age/Onset	00y06m
Phenotype/Onset	-
Protein	-
Owner name	John Sayer
Database submission license
Created by	John Sayer
Date created	2018-08-24 09:16:30 +02:00 (CEST)
Date last edited	2018-08-24 09:27:43 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.