Phenotype #0000340214

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00451539
Associated disease	?
Diagnosis/Initial	Leber congenital amaurosis
Diagnosis/Definite	ODRMD
Phenotype details	no night vision; no perception light; nystagmus; bilateral corneal haze; no photophobia; bilateral microcornea
Inheritance	Familial, autosomal recessive
Age/Examination	42y (42 years)
Age/Diagnosis	-
Age/Onset	<1y
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Rabia Basharat
Database submission license
Created by	Johan den Dunnen
Date created	2024-06-10 15:00:36 +02:00 (CEST)
Date last edited	N/A

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