Phenotype #0000142001

Global Variome shared LOVD

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

Individual ID	00179521
Associated disease	JBTS
Phenotype details	Developmental delay, ataxia Rod cone dystrophy, night blindness, progressive visual loss Normal renal USS Thermoregulation problems; sleep apnoea
Diagnosis/Initial	Joubert syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Joubert Syndrome
Age/Examination	12y (12 years)
Age/Diagnosis	12y
Age/Onset	00y06m
Phenotype/Onset	-
Protein	-
Owner name	John Sayer
Database submission license
Created by	John Sayer
Date created	2018-08-24 09:12:35 +02:00 (CEST)
Date last edited	2018-08-24 09:28:11 +02:00 (CEST)

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