Phenotype #0000051384

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00065278
Associated disease	?
Diagnosis/Initial	Inherited optic neuropathies (IONs)
Diagnosis/Definite	-
Phenotype details	Severely reduced visual acuity (HP:0001141); Photophobia (HP:0000613); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138)
Inheritance	Familial, autosomal recessive
Age/Examination	52y (52 years)
Age/Diagnosis	-
Age/Onset	01y-05y
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Pieter Klap
Database submission license	No license selected
Created by	Pieter Klap
Date created	2016-05-25 13:56:37 +02:00 (CEST)
Date last edited	2022-06-08 08:22:02 +02:00 (CEST)

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