Phenotype #0000353656

Global Variome shared LOVD

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

Individual ID	00468504
Associated disease	CTRCT
Phenotype details	thin cataract, fibrotic nuclear cataract; symmetrical opacities; decreased height, muscular defects
Diagnosis/Initial	bilateral cataract
Inheritance	Familial, X-linked recessive
Diagnosis/Definite	OCRL
Age/Examination	-
Age/Diagnosis	-
Age/Onset	0y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-11-09 20:53:28 +01:00 (CET)
Date last edited	N/A

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