Phenotype #0000093253

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00117865
Associated disease	CCTRCT
Phenotype details	see paper; ..., isolated congenital cataract, otherwise normal ophthalmologic and systemic examination; no evidence of cardiomyopathy, skeletal myopathy or lactic acidosis
Diagnosis/Initial	congenital cataract
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CTRCT38
Age/Examination	17y (17 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Fowzan Alkuraya
Database submission license	No license selected
Created by	Fowzan Alkuraya
Date created	2012-02-13 17:17:46 +01:00 (CET)
Date last edited	2023-11-14 14:11:59 +01:00 (CET)

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