Phenotype #0000334350

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00445097
Associated disease	CTRCT
Phenotype details	nuclear cataract; atrial septal defect, ventricular septal defect; patent foramen oval, bilateral 2nd-3rd toe syndactyly, simian crease, secondary microcephaly, central hypothyreosis; aphakic glaucoma
Diagnosis/Initial	cataract
Inheritance	Isolated (sporadic)
Diagnosis/Definite	MCOPS2
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-01-02 18:58:09 +01:00 (CET)
Date last edited	N/A

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