Phenotype #0000352230

Global Variome shared LOVD

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

	Curator: Global Variome, with Curator vacancy

Individual ID	00466866
Associated disease	CLN5
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	developmental regression
Age/Examination	09y (9 years)
Diagnosis/Definite	CLN5
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Phenotype details	-
Protein	-
Owner name	Tadashi Kaname
Database submission license
Created by	Tadashi Kaname
Date created	2025-09-26 08:32:44 +02:00 (CEST)
Date last edited	2025-10-06 12:15:35 +02:00 (CEST)

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