Phenotype #0000326739

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00436589
Associated disease	PPROM
Phenotype details	Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551
Diagnosis/Initial	Retinal dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	# 608051
Age/Examination	03y (3 years)
Age/Diagnosis	30y
Age/Onset	03y
Phenotype/Onset	3y
Protein	-
Owner name	Rocio Villafuerte-de la Cruz
Database submission license
Created by	Rocio Villafuerte-de la Cruz
Date created	2023-09-21 22:35:22 +02:00 (CEST)
Date last edited	2023-09-22 14:47:09 +02:00 (CEST)

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