Phenotype #0000187802

Global Variome shared LOVD

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

Individual ID	00248834
Associated disease	SRTD
Diagnosis/Initial	Jeune syndrome
Diagnosis/Definite	JBTS-33
Phenotype details	see paper; ..., narrow thorax, pelvic bone malformation, retinal degeneration due to cone-rod dystrophy in childhood, no impairment renal function
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-07-28 13:59:18 +02:00 (CEST)
Date last edited	2019-07-28 14:12:44 +02:00 (CEST)

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