Phenotype #0000347621

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00459545
Associated disease	RD
Phenotype details	see paper; ..., 1d-poor vision; visual acuity counting ﬁngers (OU), roving nystagmus, bilateral severe retinal dystrophy; older sister poor visionboth eyes, early childhood retinitis pigmentosa, keratoconus
Diagnosis/Initial	neurodevelopmental delay
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LCA8
Age/Examination	19y (19 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-01-09 16:10:04 +01:00 (CET)
Date last edited	N/A

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