Phenotype #0000334140

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00444890
Associated disease	CTRCT
Phenotype details	see paper; ..., bilateral dense central nuclear, intellectual disability, large teeth, dysmorphic facies; brother HCD 11.25 AXL 20.88, aphakic glaucoma, 3y-Baerveldt tube; father cerulean cataracts HCD 12 AXL 24.5
Diagnosis/Initial	cataract
Inheritance	Familial, X-linked
Diagnosis/Definite	CTCRT40
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-12-28 19:27:56 +01:00 (CET)
Date last edited	N/A

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