Phenotype #0000306972

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00415173
Associated disease	-
Phenotype details	refractive error: S+11 both eyes; best corrected visual acuity right, left eye: 2/5, 5/10; funduscopy: abnormal macular reflex, but no obvious macular fold; optical coherence tomography: a small macular retinal fold
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	posterior microphthalmia
Age/Examination	3y (3 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	high hyperopia
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-08-09 12:18:36 +02:00 (CEST)
Date last edited	N/A

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