Phenotype #0000333614

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00444361
Associated disease	RD
Phenotype details	see paper; ..., retinal dystrophy; bilateral iris and retinal coloboma, unilateral microphthalmia; acne-like skin manifestations
Diagnosis/Initial	retinal dystrophy, ocular colobomata
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	RDCCAS
Age/Examination	25y (25 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-12-23 14:41:51 +01:00 (CET)
Date last edited	N/A

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