Phenotype #0000353663

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00468511
Associated disease	CTRCT
Phenotype details	total cataract; symmetrical opacities; skeletal defects, brittle hair, facial dysmorphisms, delayed tooth eruption, scoliosis, funnel chest, developmental delay
Diagnosis/Initial	bilateral cataract
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CLSD
Age/Examination	-
Age/Diagnosis	-
Age/Onset	1y
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

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