Phenotype #0000144089

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00183353
Associated disease	CTRCT
Phenotype details	9m-cataract (R+L), no light perception, no iris coloboma, microcornea (L+R), horizontal and rotatory nystagmus (L+R), accurate corneal diameter measurements could not be obtained
Diagnosis/Initial	cataract
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	23y (23 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-10-23 17:49:08 +02:00 (CEST)
Date last edited	N/A

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